Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ESCO1_chr18_21524284_21605704	21540013	GAT GAT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(259): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0009 others(6): Show a0001c0001 a0002c0002 a0002c0009 a0002c0012 a0004c0007 a0005c0006 a0006c0011 a0007c0010 a0008c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0015 a0002c0009t0001 a0002c0012t0001 a0004c0007t0001 a0005c0006t0001 a0006c0011t0001 a0007c0010t0001 a0008c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(253): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0003g0139 a0001c0001t0003g0148 a0001c0001t0003g0163 a0001c0001t0004g0072 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0007g0042 a0001c0001t0007g0045 a0001c0001t0008g0191 a0001c0001t0013g0126 a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0192 a0002c0002t0001g0196 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0010g0298 a0002c0002t0011g0268 a0002c0002t0012g0195 a0002c0002t0014g0203 a0002c0002t0015g0269 a0002c0009t0001g0285 a0002c0012t0001g0220 a0004c0007t0001g0223 a0004c0007t0001g0224 a0005c0006t0001g0086 a0005c0006t0001g0107 a0006c0011t0001g0254 a0007c0010t0001g0199 a0008c0008t0001g0225	262	310	0.8452	-2	c.195 others(15): Show c.1954-6_1954-5delAT		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	8/11					chr18	TogoVar
ESCO1_chr18_21524284_21605704	21584446	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(104): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18946.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp1 NA19067.hp1 NA19070.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0009 a0002c0012 a0004c0007 a0006c0011 a0008c0008	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(9): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0015 a0002c0009t0001 a0002c0012t0001 a0004c0007t0001 a0006c0011t0001 a0008c0008t0001	a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0003t0002g0172 others(101): Show a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0186 a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0010g0298 a0002c0002t0011g0268 a0002c0002t0012g0195 a0002c0002t0015g0269 a0002c0009t0001g0285 a0002c0012t0001g0220 a0004c0007t0001g0223 a0004c0007t0001g0224 a0006c0011t0001g0254 a0008c0008t0001g0225	107	310	0.3452	1	c.-82 others(7): Show c.-824-7dupT		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11					chr18	TogoVar
ESCO1_chr18_21524284_21605704	21584446	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp1 HG02723.hp1 others(6): Show HG01167.hp2 HG01169.hp1 HG02723.hp1 HG02818.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03540.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0052 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0002c0004t0001g0204	9	310	0.0290	-1	c.-82 others(7): Show c.-824-7delT		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11					chr18	TogoVar
ESCO2_chr8_27769554_27810316	27788977	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19072.hp2 NA19072.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0017 a0008c0008t0017	a0008c0008t0017g0006 a0008c0008t0017g0006	1	380	0.0026	0	c.126 others(4): Show c.1262T>C	p.Val others(6): Show p.Val421Ala	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	7/11	1332/3754	1262/1806	421/601		chr8	TogoVar
ESCO2_chr8_27769554_27810316	27804983	CAAAAGAA others(323): Show CAAAAGAAGAGGCTTCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	splice_region_variant splice_region_variant	LOW	HG00140.hp1 HG00408.hp1 HG00438.hp2 others(124): Show HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0008 a0009 a0010	a0001c0001 a0001c0004 a0002c0002 others(6): Show a0001c0001 a0001c0004 a0002c0002 a0002c0009 a0003c0003 a0007c0012 a0008c0008 a0009c0011 a0010c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(20): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0031 a0001c0001t0035 a0001c0004t0021 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0017 a0002c0002t0021 a0002c0002t0032 a0002c0009t0001 a0003c0003t0012 a0003c0003t0018 a0003c0003t0033 a0003c0003t0034 a0007c0012t0007 a0008c0008t0017 a0009c0011t0001 a0010c0010t0001	a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0007g0006 others(81): Show a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0007g0006 a0001c0001t0007g0008 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0163 a0001c0001t0016g0016 a0001c0001t0016g0054 a0001c0001t0016g0055 a0001c0001t0017g0026 a0001c0001t0017g0071 a0001c0001t0017g0072 a0001c0001t0020g0023 a0001c0001t0020g0056 a0001c0001t0020g0057 a0001c0001t0020g0058 a0001c0001t0031g0059 a0001c0001t0035g0023 a0001c0004t0021g0102 a0001c0004t0021g0103 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0004g0001 a0002c0002t0004g0003 a0002c0002t0004g0004 a0002c0002t0004g0007 a0002c0002t0004g0009 a0002c0002t0004g0018 a0002c0002t0004g0080 a0002c0002t0004g0086 a0002c0002t0004g0091 a0002c0002t0004g0092 a0002c0002t0004g0100 a0002c0002t0004g0101 a0002c0002t0007g0001 a0002c0002t0007g0081 a0002c0002t0007g0083 a0002c0002t0007g0094 a0002c0002t0017g0079 a0002c0002t0021g0001 a0002c0002t0032g0004 a0002c0009t0001g0029 a0003c0003t0012g0017 a0003c0003t0012g0024 a0003c0003t0012g0062 a0003c0003t0012g0063 a0003c0003t0012g0064 a0003c0003t0012g0065 a0003c0003t0018g0025 a0003c0003t0018g0066 a0003c0003t0018g0067 a0003c0003t0018g0069 a0003c0003t0033g0068 a0003c0003t0034g0061 a0007c0012t0007g0008 a0008c0008t0017g0006 a0009c0011t0001g0001 a0010c0010t0001g0001	127	380	0.3342	-330	c.15 others(11): Show c.1563_*1892del		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	11/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESCO2_chr8_27769554_27810316	27805287	CAAA CAAA	C C	splice_region_variant splice_region_variant	LOW	HG01358.hp1 HG01981.hp2 HG02055.hp1 others(8): Show HG01358.hp1 HG01981.hp2 HG02055.hp1 HG02148.hp2 HG02602.hp2 HG02717.hp2 HG03209.hp2 HG04184.hp2 NA18959.hp1 NA19087.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026	a0001c0001t0019g0038 a0001c0001t0019g0138 a0001c0001t0019g0141 others(8): Show a0001c0001t0019g0038 a0001c0001t0019g0138 a0001c0001t0019g0141 a0001c0001t0019g0142 a0001c0001t0019g0162 a0001c0001t0024g0153 a0001c0001t0024g0154 a0001c0001t0024g0155 a0001c0001t0026g0036 a0001c0001t0026g0158 a0001c0001t0026g0161	11	380	0.0290	-3	c.18 others(14): Show c.1877_*1879delAAA		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	11/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESCO2_chr8_27769554_27810316	27805287	CAAAA CAAAA	C C	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(45): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02451.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG03017.hp2 HG03209.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp2 NA18941.hp1 NA18949.hp2 NA18952.hp1 NA18956.hp1 NA18977.hp2 NA18980.hp1 NA18988.hp2 NA18998.hp1 NA19003.hp1 NA19074.hp1 NA19091.hp1 NA20129.hp1 NA20905.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0013 a0001c0001 a0011c0013	a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 others(4): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 a0001c0001t0025 a0001c0001t0036 a0001c0001t0037 a0011c0013t0005	a0001c0001t0005g0021 a0001c0001t0005g0034 a0001c0001t0005g0037 others(36): Show a0001c0001t0005g0021 a0001c0001t0005g0034 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0131 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0143 a0001c0001t0005g0145 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0010g0010 a0001c0001t0010g0042 a0001c0001t0010g0130 a0001c0001t0010g0146 a0001c0001t0010g0156 a0001c0001t0010g0157 a0001c0001t0010g0159 a0001c0001t0010g0160 a0001c0001t0022g0021 a0001c0001t0022g0129 a0001c0001t0022g0137 a0001c0001t0025g0123 a0001c0001t0025g0124 a0001c0001t0025g0125 a0001c0001t0036g0126 a0001c0001t0037g0132 a0011c0013t0005g0144	48	380	0.1263	-4	c.18 others(15): Show c.1876_*1879delAAAA		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	11/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESCO2_chr8_27769554_27810316	27805287	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	splice_region_variant splice_region_variant	LOW	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0242 a0001c0001t0051g0242	1	380	0.0026	-10	c.18 others(21): Show c.1870_*1879delAAAAAAAAAA		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	11/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESCO2_chr8_27769554_27810316	27805287	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	splice_region_variant splice_region_variant	LOW	HG00280.hp2 HG00639.hp2 HG01109.hp2 others(12): Show HG00280.hp2 HG00639.hp2 HG01109.hp2 HG01167.hp2 HG01261.hp2 HG01978.hp1 HG02055.hp2 HG03239.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0009 a0005c0006t0009 a0001c0001t0009 a0005c0006t0009	a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0033 others(7): Show a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0033 a0001c0001t0009g0117 a0001c0001t0009g0118 a0001c0001t0009g0119 a0001c0001t0009g0120 a0001c0001t0009g0121 a0005c0006t0009g0113 a0005c0006t0009g0114	15	380	0.0395	-11	c.18 others(22): Show c.1869_*1879delAAAAAAAAAAA		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	11/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESCO2_chr8_27769554_27810316	27805287	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	splice_region_variant splice_region_variant	LOW	HG01891.hp2 HG02818.hp1 HG03130.hp2 others(1): Show HG01891.hp2 HG02818.hp1 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0039 a0001c0001t0027 a0001c0001t0039	a0001c0001t0027g0035 a0001c0001t0027g0122 a0001c0001t0039g0152 a0001c0001t0027g0035 a0001c0001t0027g0122 a0001c0001t0039g0152	4	380	0.0105	-12	c.18 others(23): Show c.1868_*1879delAAAAAAAAAAAA		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	11/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESCO2_chr8_27769554_27810316	27805287	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	splice_region_variant splice_region_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0250 a0001c0001t0046g0250	1	380	0.0026	-16	c.18 others(27): Show c.1864_*1879delAAAAAAAAAAAAAAAA		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	11/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESD_chr13_46766256_46802161	46771495	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02738.hp1 HG02738.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0168 a0004c0006t0001g0168	1	406	0.0025	0	c.770 others(3): Show c.770G>A	p.Gly others(6): Show p.Gly257Asp	ESD	ENSG00000139684.15	transcript	ENST00000378720.8	protein_coding	10/10	882/1121	770/849	257/282		chr13	TogoVar
ESF1_chr20_13709325_13789919	13775270	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18993.hp1 NA19078.hp1 NA18993.hp1 NA19078.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0365 a0005c0009t0001g0366 a0005c0009t0001g0365 a0005c0009t0001g0366	2	390	0.0051	0	c.103 others(4): Show c.1036A>G	p.Ile others(6): Show p.Ile346Val	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	4/14	1119/3188	1036/2556	346/851		chr20	TogoVar
ESF1_chr20_13709325_13789919	13775869	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	390	0.0026	0	c.103 others(6): Show c.1035+4A>T		ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	3/13					chr20	TogoVar
ESM1_chr5_54972867_54990593	54981998	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0038 a0001c0006t0002g0038	1	446	0.0022	0	c.450 others(3): Show c.450G>A	p.Thr others(6): Show p.Thr150Thr	ESM1	ENSG00000164283.13	transcript	ENST00000381405.5	protein_coding	2/3	526/2096	450/555	150/184		chr5	TogoVar
ESPL1_chr12_53263299_53298638	53277466	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp1 HG02083.hp1 HG02135.hp2 others(4): Show HG02027.hp1 HG02083.hp1 HG02135.hp2 HG02523.hp2 HG03669.hp2 HG04228.hp2 NA18747.hp1	a0005 a0032 a0005 a0032	a0005c0009 a0005c0044 a0032c0039 a0005c0009 a0005c0044 a0032c0039	a0005c0009t0001 a0005c0044t0001 a0032c0039t0001 a0005c0009t0001 a0005c0044t0001 a0032c0039t0001	a0005c0009t0001g0023 a0005c0009t0001g0025 a0005c0009t0001g0049 others(3): Show a0005c0009t0001g0023 a0005c0009t0001g0025 a0005c0009t0001g0049 a0005c0009t0001g0050 a0005c0044t0001g0023 a0032c0039t0001g0060	7	334	0.0210	0	c.208 others(6): Show c.2086-4C>T		ESPL1	ENSG00000135476.12	transcript	ENST00000257934.9	protein_coding	9/30					chr12	TogoVar
ESPL1_chr12_53263299_53298638	53277821	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0035 a0035	a0035c0043 a0035c0043	a0035c0043t0001 a0035c0043t0001	a0035c0043t0001g0061 a0035c0043t0001g0061	1	334	0.0030	0	c.222 others(4): Show c.2225C>T	p.Ala others(6): Show p.Ala742Val	ESPL1	ENSG00000135476.12	transcript	ENST00000257934.9	protein_coding	11/31	2316/6618	2225/6363	742/2120		chr12	TogoVar
ESPL1_chr12_53263299_53298638	53290835	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(63): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02129.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02818.hp1 HG02970.hp1 HG03017.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 NA18947.hp2 NA18951.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18973.hp1 NA18981.hp1 NA18982.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19043.hp2 NA19063.hp2 NA19065.hp2 NA19076.hp2 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0012 a0014 a0016 a0019 a0020 a0022 a0028	a0001c0001 a0001c0002 a0002c0003 others(10): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0045 a0012c0014 a0014c0042 a0016c0040 a0016c0041 a0019c0047 a0020c0048 a0022c0023 a0028c0031	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 others(10): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0003c0004t0003 a0003c0045t0003 a0012c0014t0001 a0014c0042t0001 a0016c0040t0001 a0016c0041t0001 a0019c0047t0003 a0020c0048t0003 a0022c0023t0001 a0028c0031t0002	a0001c0001t0001g0074 a0001c0002t0001g0138 a0002c0003t0002g0017 others(50): Show a0001c0001t0001g0074 a0001c0002t0001g0138 a0002c0003t0002g0017 a0002c0003t0002g0018 a0002c0003t0002g0040 a0002c0003t0002g0042 a0002c0003t0002g0044 a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0003t0002g0165 a0002c0003t0002g0167 a0002c0003t0002g0168 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0192 a0002c0003t0002g0193 a0003c0004t0003g0010 a0003c0004t0003g0019 a0003c0004t0003g0045 a0003c0004t0003g0046 a0003c0004t0003g0194 a0003c0004t0003g0195 a0003c0004t0003g0196 a0003c0004t0003g0202 a0003c0004t0003g0203 a0003c0004t0003g0206 a0003c0004t0003g0207 a0003c0004t0003g0208 a0003c0045t0003g0210 a0012c0014t0001g0159 a0012c0014t0001g0161 a0012c0014t0001g0181 a0014c0042t0001g0070 a0016c0040t0001g0158 a0016c0041t0001g0160 a0019c0047t0003g0209 a0020c0048t0003g0205 a0022c0023t0001g0121 a0028c0031t0002g0040	66	334	0.1976	0	c.536 others(6): Show c.5365-6A>G		ESPL1	ENSG00000135476.12	transcript	ENST00000257934.9	protein_coding	24/30					chr12	TogoVar
ESPL1_chr12_53263299_53298638	53292968	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0016 a0016	a0016c0040 a0016c0040	a0016c0040t0001 a0016c0040t0001	a0016c0040t0001g0158 a0016c0040t0001g0158	1	334	0.0030	0	c.615 others(4): Show c.6159T>C	p.Gly others(7): Show p.Gly2053Gly	ESPL1	ENSG00000135476.12	transcript	ENST00000257934.9	protein_coding	30/31	6250/6618	6159/6363	2053/2120		chr12	TogoVar
ESPNL_chr2_238095340_238138287	238101936	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00639.hp2 HG00642.hp2 others(54): Show HG00323.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG02015.hp2 HG02040.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG03491.hp1 HG03688.hp2 HG03831.hp1 HG06807.hp2 NA18947.hp2 NA18953.hp2 NA18977.hp1 NA18980.hp1 NA18985.hp2 NA18990.hp1 NA18997.hp1 NA19005.hp1 NA19055.hp2 NA19057.hp1 NA19066.hp1 NA19085.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012 a0016 a0029 a0037 a0046	a0001c0033 a0001c0042 a0002c0020 others(13): Show a0001c0033 a0001c0042 a0002c0020 a0002c0058 a0003c0021 a0003c0041 a0004c0003 a0004c0057 a0004c0060 a0005c0014 a0006c0061 a0012c0063 a0016c0064 a0029c0059 a0037c0062 a0046c0130	a0001c0033t0004 a0001c0042t0003 a0001c0042t0006 others(14): Show a0001c0033t0004 a0001c0042t0003 a0001c0042t0006 a0002c0020t0002 a0002c0058t0005 a0003c0021t0001 a0003c0041t0006 a0004c0003t0005 a0004c0057t0005 a0004c0060t0005 a0005c0014t0001 a0006c0061t0003 a0012c0063t0004 a0016c0064t0001 a0029c0059t0005 a0037c0062t0005 a0046c0130t0002	a0001c0033t0004g0306 a0001c0033t0004g0316 a0001c0033t0004g0330 others(51): Show a0001c0033t0004g0306 a0001c0033t0004g0316 a0001c0033t0004g0330 a0001c0042t0003g0287 a0001c0042t0006g0317 a0002c0020t0002g0038 a0002c0020t0002g0284 a0002c0020t0002g0304 a0002c0020t0002g0310 a0002c0020t0002g0312 a0002c0058t0005g0321 a0003c0021t0001g0282 a0003c0021t0001g0288 a0003c0021t0001g0295 a0003c0021t0001g0297 a0003c0021t0001g0319 a0003c0021t0001g0331 a0003c0041t0006g0293 a0003c0041t0006g0300 a0004c0003t0005g0039 a0004c0003t0005g0040 a0004c0003t0005g0283 a0004c0003t0005g0285 a0004c0003t0005g0289 a0004c0003t0005g0291 a0004c0003t0005g0294 a0004c0003t0005g0298 a0004c0003t0005g0302 a0004c0003t0005g0303 a0004c0003t0005g0308 a0004c0003t0005g0309 a0004c0003t0005g0311 a0004c0003t0005g0315 a0004c0003t0005g0320 a0004c0003t0005g0323 a0004c0003t0005g0324 a0004c0003t0005g0326 a0004c0003t0005g0328 a0004c0003t0005g0332 a0004c0057t0005g0329 a0004c0060t0005g0290 a0005c0014t0001g0286 a0005c0014t0001g0292 a0005c0014t0001g0301 a0005c0014t0001g0305 a0005c0014t0001g0307 a0005c0014t0001g0325 a0005c0014t0001g0327 a0006c0061t0003g0296 a0012c0063t0004g0322 a0016c0064t0001g0299 a0029c0059t0005g0314 a0037c0062t0005g0313 a0046c0130t0002g0318	57	408	0.1397	0	c.295 others(5): Show c.295-5G>C		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	1/8					chr2	TogoVar
ESPNL_chr2_238095340_238138287	238104650	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0119 a0003c0119	a0003c0119t0012 a0003c0119t0012	a0003c0119t0012g0160 a0003c0119t0012g0160	1	408	0.0025	0	c.486 others(5): Show c.486-6C>G		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	2/8					chr2	TogoVar
ESPNL_chr2_238095340_238138287	238104848	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18941.hp1 NA18941.hp1	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0001 a0003c0035t0001	a0003c0035t0001g0218 a0003c0035t0001g0218	1	408	0.0025	0	c.672 others(5): Show c.672+6T>G		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	3/8					chr2	TogoVar
ESPN_chr1_6419776_6465944	6445661	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0207 a0001c0002t0003g0207	1	276	0.0036	0	c.119 others(6): Show c.1193-3C>T		ESPN	ENSG00000187017.18	transcript	ENST00000645284.1	protein_coding	6/12					chr1	TogoVar
ESPN_chr1_6419776_6465944	6451755	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	276	0.0036	0	c.206 others(6): Show c.2061+7G>A		ESPN	ENSG00000187017.18	transcript	ENST00000645284.1	protein_coding	9/12					chr1	TogoVar
ESR2_chr14_64223317_64299371	64233327	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(87): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01257.hp1 HG01891.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02280.hp2 HG02523.hp2 HG02615.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03927.hp2 HG04204.hp2 HG06807.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19090.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0002c0004 a0004c0013	a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 others(26): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0021 a0001c0001t0026 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0059 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0002t0018 a0001c0002t0019 a0001c0002t0032 a0001c0002t0053 a0001c0002t0054 a0001c0002t0056 a0001c0002t0058 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0003t0003 a0001c0003t0055 a0001c0015t0006 a0002c0004t0020 a0002c0004t0045 a0004c0013t0003	a0001c0001t0003g0031 a0001c0001t0005g0001 a0001c0001t0005g0011 others(84): Show a0001c0001t0003g0031 a0001c0001t0005g0001 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0019g0252 a0001c0001t0021g0245 a0001c0001t0021g0246 a0001c0001t0021g0247 a0001c0001t0026g0002 a0001c0001t0042g0023 a0001c0001t0043g0015 a0001c0001t0044g0016 a0001c0001t0059g0248 a0001c0002t0003g0048 a0001c0002t0003g0155 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0167 a0001c0002t0003g0169 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0006g0154 a0001c0002t0006g0158 a0001c0002t0006g0161 a0001c0002t0006g0163 a0001c0002t0006g0165 a0001c0002t0006g0166 a0001c0002t0006g0170 a0001c0002t0006g0174 a0001c0002t0006g0187 a0001c0002t0006g0188 a0001c0002t0006g0189 a0001c0002t0006g0193 a0001c0002t0006g0255 a0001c0002t0011g0204 a0001c0002t0011g0205 a0001c0002t0011g0206 a0001c0002t0011g0207 a0001c0002t0018g0168 a0001c0002t0018g0178 a0001c0002t0018g0179 a0001c0002t0019g0053 a0001c0002t0019g0054 a0001c0002t0032g0137 a0001c0002t0032g0201 a0001c0002t0053g0162 a0001c0002t0054g0139 a0001c0002t0056g0164 a0001c0002t0058g0138 a0001c0002t0060g0180 a0001c0002t0061g0173 a0001c0002t0062g0190 a0001c0002t0063g0076 a0001c0003t0003g0004 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0055g0059 a0001c0015t0006g0156 a0002c0004t0020g0314 a0002c0004t0020g0315 a0002c0004t0020g0316 a0002c0004t0045g0028 a0004c0013t0003g0183	90	368	0.2446	0	c.140 others(6): Show c.1407-4A>G		ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding	8/8					chr14	TogoVar
ESRP1_chr8_94636174_94712466	94705903	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG03942.hp2 NA18941.hp1 others(3): Show HG02451.hp1 HG03942.hp2 NA18941.hp1 NA19062.hp2 NA19082.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0040 a0001c0002t0002g0058 a0001c0002t0002g0079 others(3): Show a0001c0002t0002g0040 a0001c0002t0002g0058 a0001c0002t0002g0079 a0001c0002t0002g0089 a0001c0002t0002g0100 a0001c0004t0002g0007	6	374	0.0160	1	c.36 others(6): Show c.36-4dupT		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	15/15				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94705903	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01081.hp1 HG01993.hp2 others(19): Show HG01070.hp2 HG01081.hp1 HG01993.hp2 HG02109.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02809.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0256 others(19): Show a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0256 a0001c0001t0001g0361 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0254 a0001c0001t0004g0271 a0001c0001t0010g0005 a0001c0003t0001g0347 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0001g0351 a0001c0003t0001g0353 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0005t0001g0181 a0001c0005t0001g0182 a0001c0005t0001g0183 a0001c0005t0001g0184	22	374	0.0588	-2	c.36 others(13): Show c.36-5_*36-4delTT		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	15/15				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94705903	CTTT CTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(185): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18980.hp1 NA18981.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0003c0010 a0004c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0003c0010t0001 a0004c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(184): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0001g0087 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0370 a0001c0001t0003g0142 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0005g0274 a0001c0001t0005g0298 a0001c0001t0005g0302 a0001c0001t0005g0306 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0215 a0001c0001t0011g0136 a0001c0002t0001g0085 a0001c0002t0001g0097 a0001c0002t0001g0124 a0001c0003t0001g0318 a0001c0006t0001g0352 a0001c0007t0001g0344 a0001c0007t0001g0346 a0001c0009t0001g0150 a0001c0011t0001g0251 a0003c0010t0001g0321 a0004c0013t0001g0145	188	374	0.5027	-3	c.36 others(14): Show c.36-6_*36-4delTTT		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	15/15				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94705903	CTTTT CTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00558.hp1 HG00642.hp1 others(59): Show HG00140.hp1 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01517.hp1 HG01978.hp2 HG02004.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02965.hp1 HG03239.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18946.hp2 NA18949.hp1 NA18957.hp2 NA18962.hp1 NA18965.hp2 NA18972.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19060.hp1 NA19074.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001	a0001c0001t0001g0137 a0001c0001t0001g0198 a0001c0001t0001g0212 others(58): Show a0001c0001t0001g0137 a0001c0001t0001g0198 a0001c0001t0001g0212 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0009g0356 a0001c0002t0001g0014 a0001c0003t0001g0001 a0001c0003t0001g0088 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0151 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0326 a0001c0003t0001g0327 a0001c0003t0001g0328 a0001c0003t0001g0329 a0001c0003t0001g0330 a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0333 a0001c0003t0001g0334 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0337 a0001c0003t0001g0338 a0001c0003t0001g0339 a0001c0003t0001g0340 a0001c0003t0001g0341 a0001c0003t0001g0368 a0001c0003t0001g0369 a0001c0003t0001g0371 a0001c0006t0001g0345 a0001c0008t0001g0276	62	374	0.1658	-4	c.36 others(15): Show c.36-7_*36-4delTTTT		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	15/15				INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP2_chr16_68224033_68241127	68232819	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	274	0.0037	0	c.656 others(5): Show c.656-4T>C		ESRP2	ENSG00000103067.14	transcript	ENST00000473183.7	protein_coding	5/14					chr16	TogoVar
ESRRB_chr14_76371137_76506837	76376458	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	318	0.0031	0	c.50+ others(4): Show c.50+7G>T		ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	1/6					chr14	TogoVar
ESS2_chr22_19125279_19149651	19135061	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0031 a0007c0016t0031	a0007c0016t0031g0139 a0007c0016t0031g0139	1	432	0.0023	0	c.115 others(4): Show c.1150A>C	p.Ser others(6): Show p.Ser384Arg	ESS2	ENSG00000100056.12	transcript	ENST00000252137.11	protein_coding	9/10	1161/5359	1150/1431	384/476		chr22	TogoVar
ESS2_chr22_19125279_19149651	19142902	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0162 a0002c0003t0001g0162	1	432	0.0023	0	c.136 others(5): Show c.136-8C>T		ESS2	ENSG00000100056.12	transcript	ENST00000252137.11	protein_coding	1/9					chr22	TogoVar
ESX1_chrX_104245038_104259933	104254582	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19067.hp1 NA19067.hp1	a0035 a0035	a0035c0038 a0035c0038	a0035c0038t0001 a0035c0038t0001	a0035c0038t0001g0077 a0035c0038t0001g0077	1	313	0.0032	-1	c.83- others(5): Show c.83-6delT		ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	1/3					chrX	TogoVar
ESYT1_chr12_56123267_56149674	56130931	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp2 HG03516.hp1 HG03130.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	2	370	0.0054	0	c.567 others(5): Show c.567+6T>C		ESYT1	ENSG00000139641.13	transcript	ENST00000394048.10	protein_coding	3/30					chr12	TogoVar
ESYT1_chr12_56123267_56149674	56134334	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG01175.hp1 HG01243.hp2 others(35): Show HG01074.hp1 HG01175.hp1 HG01243.hp2 HG01433.hp1 HG02056.hp2 HG02280.hp2 HG02698.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18941.hp1 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18979.hp1 NA18988.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19056.hp2 NA19058.hp1 NA19068.hp1 NA19077.hp1 NA19078.hp1 NA19084.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0024 others(18): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0005g0038 a0001c0001t0005g0109	38	370	0.1027	0	c.154 others(6): Show c.1546-8A>G		ESYT1	ENSG00000139641.13	transcript	ENST00000394048.10	protein_coding	14/30					chr12	TogoVar
ESYT1_chr12_56123267_56149674	56136899	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	370	0.0027	0	c.178 others(6): Show c.1782+6G>A		ESYT1	ENSG00000139641.13	transcript	ENST00000394048.10	protein_coding	16/30					chr12	TogoVar
ESYT2_chr7_158725997_158834509	158737041	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18972.hp1 NA18993.hp1 NA19010.hp2 NA18972.hp1 NA18993.hp1 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0258 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0258	3	370	0.0081	0	c.239 others(6): Show c.2399+7T>A		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	20/22					chr7	TogoVar
ESYT2_chr7_158725997_158834509	158741525	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18944.hp1 NA18963.hp2 NA19079.hp1 others(1): Show NA18944.hp1 NA18963.hp2 NA19079.hp1 NA19087.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0213 a0002c0009t0003g0214 a0002c0009t0003g0219 others(1): Show a0002c0009t0003g0213 a0002c0009t0003g0214 a0002c0009t0003g0219 a0002c0009t0003g0220	4	370	0.0108	0	c.216 others(4): Show c.2166A>G	p.Glu others(6): Show p.Glu722Glu	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	18/23	2257/5902	2166/2601	722/866		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158743523	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	370	0.0027	0	c.179 others(6): Show c.1794+6G>A		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	17/22					chr7	TogoVar
ESYT2_chr7_158725997_158834509	158743685	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(162): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18972.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0008	a0002c0002 a0002c0004 a0002c0009 others(12): Show a0002c0002 a0002c0004 a0002c0009 a0002c0010 a0002c0013 a0002c0020 a0002c0021 a0002c0022 a0002c0023 a0002c0027 a0003c0003 a0003c0016 a0003c0017 a0006c0026 a0008c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(31): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0012 a0002c0002t0018 a0002c0002t0035 a0002c0002t0038 a0002c0002t0040 a0002c0002t0042 a0002c0004t0001 a0002c0004t0003 a0002c0004t0037 a0002c0009t0003 a0002c0010t0002 a0002c0010t0006 a0002c0010t0041 a0002c0013t0002 a0002c0020t0003 a0002c0021t0002 a0002c0022t0022 a0002c0023t0039 a0002c0027t0044 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0012 a0003c0003t0019 a0003c0003t0021 a0003c0003t0023 a0003c0003t0026 a0003c0016t0004 a0003c0017t0002 a0006c0026t0002 a0008c0015t0004	a0002c0002t0001g0181 a0002c0002t0002g0037 a0002c0002t0002g0227 others(161): Show a0002c0002t0001g0181 a0002c0002t0002g0037 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0314 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0365 a0002c0002t0006g0003 a0002c0002t0006g0177 a0002c0002t0006g0184 a0002c0002t0012g0183 a0002c0002t0018g0143 a0002c0002t0018g0144 a0002c0002t0035g0313 a0002c0002t0038g0315 a0002c0002t0040g0255 a0002c0002t0042g0027 a0002c0004t0001g0205 a0002c0004t0001g0212 a0002c0004t0001g0215 a0002c0004t0001g0218 a0002c0004t0003g0196 a0002c0004t0003g0197 a0002c0004t0003g0198 a0002c0004t0003g0199 a0002c0004t0003g0200 a0002c0004t0003g0201 a0002c0004t0003g0202 a0002c0004t0003g0203 a0002c0004t0003g0206 a0002c0004t0003g0207 a0002c0004t0003g0209 a0002c0004t0003g0210 a0002c0004t0003g0211 a0002c0004t0003g0216 a0002c0004t0003g0217 a0002c0004t0003g0221 a0002c0004t0037g0208 a0002c0009t0003g0213 a0002c0009t0003g0214 a0002c0009t0003g0219 a0002c0009t0003g0220 a0002c0010t0002g0232 a0002c0010t0002g0233 a0002c0010t0006g0178 a0002c0010t0041g0228 a0002c0013t0002g0261 a0002c0013t0002g0293 a0002c0020t0003g0204 a0002c0021t0002g0305 a0002c0022t0022g0179 a0002c0023t0039g0182 a0002c0027t0044g0194 a0003c0003t0004g0015 a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0018 a0003c0003t0004g0332 a0003c0003t0004g0333 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0004g0336 a0003c0003t0004g0338 a0003c0003t0004g0339 a0003c0003t0004g0340 a0003c0003t0004g0341 a0003c0003t0004g0343 a0003c0003t0004g0344 a0003c0003t0004g0345 a0003c0003t0004g0346 a0003c0003t0004g0347 a0003c0003t0005g0248 a0003c0003t0005g0286 a0003c0003t0005g0323 a0003c0003t0005g0359 a0003c0003t0005g0360 a0003c0003t0005g0361 a0003c0003t0007g0325 a0003c0003t0007g0327 a0003c0003t0007g0329 a0003c0003t0007g0337 a0003c0003t0012g0321 a0003c0003t0019g0004 a0003c0003t0021g0331 a0003c0003t0023g0330 a0003c0003t0026g0358 a0003c0016t0004g0078 a0003c0017t0002g0322 a0006c0026t0002g0246 a0008c0015t0004g0342	165	370	0.4460	0	c.164 others(6): Show c.1645-7T>G		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22					chr7	TogoVar
ESYT2_chr7_158725997_158834509	158748189	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0138 a0001c0006t0001g0138	1	370	0.0027	0	c.164 others(6): Show c.1644+5T>C		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22					chr7	TogoVar
ESYT2_chr7_158725997_158834509	158799022	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02486.hp1 HG03453.hp1 others(1): Show HG01243.hp1 HG02486.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0299 others(1): Show a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0299 a0001c0001t0001g0318	4	370	0.0108	1	c.372 others(6): Show c.372+8dupT		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	2/22					chr7	TogoVar
ESYT3_chr3_138429616_138484925	138459261	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG03704.hp1 homoSapiens_chm13v2.hp1 HG01884.hp2 HG03704.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0016 a0003c0003t0001g0016	3	338	0.0089	0	c.648 others(5): Show c.648+8G>A		ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	5/22					chr3	TogoVar
ESYT3_chr3_138429616_138484925	138460034	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0015 a0001c0013t0015	a0001c0013t0015g0116 a0001c0013t0015g0116	1	338	0.0030	0	c.738 others(3): Show c.738G>A	p.Pro others(6): Show p.Pro246Pro	ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	6/23	921/5915	738/2661	246/886		chr3	TogoVar
ESYT3_chr3_138429616_138484925	138465419	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0063 a0003c0023t0001g0063	1	338	0.0030	0	c.116 others(4): Show c.1167C>G	p.Gly others(6): Show p.Gly389Gly	ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	10/23	1350/5915	1167/2661	389/886		chr3	TogoVar
ESYT3_chr3_138429616_138484925	138468716	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0002 a0010c0022t0001g0002	1	338	0.0030	0	c.137 others(4): Show c.1370C>T	p.Pro others(6): Show p.Pro457Leu	ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	13/23	1553/5915	1370/2661	457/886		chr3	TogoVar
ESYT3_chr3_138429616_138484925	138473634	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02738.hp2 HG02738.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0202 a0015c0018t0001g0202	1	338	0.0030	0	c.233 others(4): Show c.2336G>A	p.Arg others(6): Show p.Arg779Lys	ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	19/23	2519/5915	2336/2661	779/886		chr3	TogoVar
ESYT3_chr3_138429616_138484925	138476334	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp2 HG02735.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0178 a0012c0020t0001g0178	1	338	0.0030	0	c.257 others(6): Show c.2574+6T>G		ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	21/22					chr3	TogoVar
ESYT3_chr3_138429616_138484925	138476437	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp2 HG02735.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0178 a0012c0020t0001g0178	1	338	0.0030	0	c.257 others(6): Show c.2575-6A>T		ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	21/22					chr3	TogoVar

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