Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
DSG3_chr18_31442741_31483702	31457547	CTCTTTCT others(32): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0023 a0001c0007t0023	a0001c0007t0023g0161 a0001c0007t0023g0161	1	346	0.0029	-39	c.216 others(54): Show c.216+464_216+502delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTYMK_chr2_241670747_241691815	241689829	GCCTTCCA others(32): Show GCCTTCCAGAGGATGAAGGGGATTGTAGTAAGGAAGACCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(61): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00673.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02965.hp2 HG02976.hp2 HG03453.hp1 HG03471.hp2 HG04199.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp2 NA18989.hp2 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 a0001c0006t0003 a0002c0003t0003	a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0076 others(23): Show a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0125 a0001c0001t0001g0154 a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0041 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0096 a0001c0001t0007g0083 a0001c0001t0007g0085 a0001c0002t0002g0008 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0155 a0001c0006t0003g0082 a0002c0003t0003g0023 a0002c0003t0003g0157	64	420	0.1524	-39	c.-30 others(50): Show c.-3085_-3047delTGGTCTTCCTTACTACAATCCCCTTCATCCTCTG GAAGG	DTYMK	ENSG00000168393.13	transcript	ENST00000305784.7	protein_coding		3015		chr2	TogoVar
DTYMK_chr2_241670747_241691815	241689896	TAAGGAAG others(32): Show TAAGGAAGACCACCTTCCAGAGGATGAAGGGGATTGTAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp1 others(131): Show HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp2 NA18963.hp1 NA18966.hp1 NA18979.hp2 NA18980.hp1 NA18985.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19067.hp1 NA19070.hp2 NA19075.hp1 NA19076.hp1 NA19084.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0007 a0001c0001 a0001c0002 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0005c0007t0002	a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0032 others(44): Show a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0121 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0004g0122 a0001c0001t0006g0033 a0001c0001t0006g0123 a0001c0001t0006g0132 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0120 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0156 a0005c0007t0002g0148	134	420	0.3191	-39	c.-31 others(50): Show c.-3152_-3114delCCTACAATCCCCTTCATCCTCTGGAAGGTGGTCT TCCTT	DTYMK	ENSG00000168393.13	transcript	ENST00000305784.7	protein_coding		3082		chr2	TogoVar
DYNC1LI2_chr16_66715893_66756609	66755056	AGGGGAAA others(32): Show AGGGGAAAGACCACAAAATTGAATTCCAGTGATTTCCCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	340	0.0029	-39	c.-35 others(50): Show c.-3504_-3466delATGGGAAATCACTGGAATTCAATTTTGTGGTCTT TCCCC	DYNC1LI2	ENSG00000135720.13	transcript	ENST00000258198.7	protein_coding		3448		chr16	TogoVar
DYSF_chr2_71448561_71691763	71543087	CGCTCCTC others(32): Show CGCTCCTCACTTCCAGACGGGGCGGCTGCCGGGCGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0082 a0003c0082	a0003c0082t0003 a0003c0082t0003	a0003c0082t0003g0185 a0003c0082t0003g0185	1	192	0.0052	-39	c.148 others(58): Show c.1480+3862_1480+3900delAGACGGGGCGGCTGCCGGGCGGAGGG GCTCCTCACTTCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	16/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71543087	CGCTCCTC others(32): Show CGCTCCTCACTTCCAGACGGGGCGGCTGCCGGGCGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0088 a0003c0088	a0003c0088t0006 a0003c0088t0006	a0003c0088t0006g0192 a0003c0088t0006g0192	1	208	0.0048	-39	c.157 others(58): Show c.1576+3862_1576+3900delAGACGGGGCGGCTGCCGGGCGGAGGG GCTCCTCACTTCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	17/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECHS1_chr10_133357485_133378354	133375958	CCGTGCAT others(32): Show CCGTGCATTGAATAGGTTCCATTTCTATGAAATGTACAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	354	0.0028	-39	c.-26 others(50): Show c.-2664_-2626delTCTGTACATTTCATAGAAATGGAACCTATTCAAT GCACG	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding		2605		chr10	TogoVar
EDNRA_chr4_147476097_147549954	147542210	CTTCCTCT others(32): Show CTTCCTCTCACCTACAGTGCCTTCCCTTTCTCTTGCACTT	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0049 a0001c0002t0005g0049	1	280	0.0036	-39	c.114 others(56): Show c.1144-267_1144-229delTTCCTCTCACCTACAGTGCCTTCCCTTT CTCTTGCACTT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	7/7			chr4	TogoVar
EDRF1_chr10_125714709_125769139	125753232	TGTGCCCT others(32): Show TGTGCCCTCTTTTCTAATTTCCACTAGAATGCCTGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	322	0.0031	-39	c.339 others(56): Show c.3393+319_3393+357delGTGCCCTCTTTTCTAATTTCCACTAGAA TGCCTGGGAGC	EDRF1	ENSG00000107938.18	transcript	ENST00000356792.9	protein_coding	23/24			chr10	TogoVar
EFCAB11_chr14_89789669_89959730	89944856	TTAATAAA others(32): Show TTAATAAATCTAATAAAATATTAGATTTTATTAGATCTAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02273.hp2 HG02280.hp2 others(5): Show HG01192.hp1 HG02273.hp2 HG02280.hp2 HG02717.hp2 HG02886.hp1 HG03139.hp1 HG03471.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0002t0002	a0001c0001t0005g0053 a0001c0001t0008g0175 a0001c0001t0008g0176 others(5): Show a0001c0001t0005g0053 a0001c0001t0008g0175 a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0178 a0001c0001t0008g0179 a0001c0001t0010g0180 a0001c0002t0002g0226	8	284	0.0282	-39	c.217 others(56): Show c.217+5202_217+5240delTTAGATCTAATAAAATCTAATATTTTAT TAGATTTATTA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	3/5			chr14	TogoVar
EFCAB12_chr3_129396321_129433636	129423043	ACAGACCT others(32): Show ACAGACCTATGATGCTGGTACTATGATTATGCCCATTTTG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	386	0.0026	-39	c.50- others(54): Show c.50-1279_50-1241delCAAAATGGGCATAATCATAGTACCAGCATC ATAGGTCTG	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	1/8			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137819614	ATTGAGGG others(32): Show ATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	170	0.0059	-39	c.354 others(58): Show c.3540+1477_3540+1515delTTGAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCTGAG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
EIPR1_chr2_3183970_3382818	3269337	ACACTCAG others(32): Show ACACTCAGTCATCGCACTCAGTCATCGCACTCAATCATCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01516.hp1 others(13): Show HG01106.hp1 HG01123.hp2 HG01516.hp1 HG01884.hp1 HG02015.hp1 HG02258.hp2 HG02559.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03942.hp1 NA18906.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0011 a0001c0001t0001g0245 a0001c0001t0002g0013 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0245 a0001c0001t0002g0013 a0001c0001t0002g0214 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0124 a0001c0002t0002g0142 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094	16	250	0.0640	-39	c.260 others(58): Show c.260-11921_260-11883delCGATGATTGAGTGCGATGACTGAGTG CGATGACTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3336884	AAAGGGAA others(32): Show AAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00639.hp1 others(28): Show HG00280.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG01069.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01978.hp2 HG01981.hp1 HG02723.hp2 HG02886.hp2 HG03130.hp2 HG03225.hp1 HG03834.hp2 HG03942.hp2 NA18747.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18963.hp2 NA18970.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp1 NA19064.hp2 NA19079.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0005t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 others(28): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0194 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0002g0010 a0001c0001t0002g0115 a0001c0001t0003g0015 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0009g0248 a0001c0005t0001g0104	31	250	0.1240	-39	c.259 others(56): Show c.259+1094_259+1132delCCCTTTTCCCTTCCCTTCCCTTTTCCCT TCCCTTCCCTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109148256	AGTCCCCC others(32): Show AGTCCCCCGAGTAGCTGGGATTACAGGCACCCACCACCAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG06807.hp2 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0019 others(21): Show a0001c0001 a0001c0002 a0001c0019 a0001c0022 a0001c0032 a0001c0035 a0001c0039 a0001c0040 a0002c0003 a0002c0006 a0002c0009 a0002c0020 a0002c0037 a0003c0004 a0003c0007 a0003c0031 a0003c0034 a0004c0008 a0004c0011 a0005c0012 a0005c0018 a0005c0021 a0006c0033 a0007c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0035 a0001c0002t0038 a0001c0019t0003 a0001c0022t0005 a0001c0032t0005 a0001c0035t0010 a0001c0039t0005 a0001c0040t0019 a0002c0003t0003 a0002c0003t0011 a0002c0003t0039 a0002c0006t0001 a0002c0009t0003 a0002c0009t0010 a0002c0020t0006 a0002c0037t0027 a0003c0004t0007 a0003c0007t0004 a0003c0031t0004 a0003c0034t0032 a0004c0008t0009 a0004c0008t0041 a0004c0011t0004 a0004c0011t0009 a0004c0011t0040 a0005c0012t0007 a0005c0018t0007 a0005c0021t0007 a0006c0033t0014 a0007c0036t0003	a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0056 others(116): Show a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0130 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0005g0013 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0115 a0001c0001t0005g0131 a0001c0002t0001g0137 a0001c0002t0001g0152 a0001c0002t0001g0158 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0001g0199 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0220 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0160 a0001c0002t0002g0166 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0183 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0197 a0001c0002t0002g0212 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0003g0139 a0001c0002t0003g0145 a0001c0002t0003g0153 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0182 a0001c0002t0003g0196 a0001c0002t0005g0149 a0001c0002t0005g0164 a0001c0002t0005g0177 a0001c0002t0005g0185 a0001c0002t0005g0190 a0001c0002t0005g0227 a0001c0002t0010g0211 a0001c0002t0013g0219 a0001c0002t0014g0159 a0001c0002t0035g0161 a0001c0002t0038g0144 a0001c0019t0003g0136 a0001c0019t0003g0179 a0001c0022t0005g0132 a0001c0032t0005g0184 a0001c0035t0010g0198 a0001c0039t0005g0169 a0001c0040t0019g0170 a0002c0003t0003g0079 a0002c0003t0003g0086 a0002c0003t0003g0089 a0002c0003t0011g0090 a0002c0003t0039g0112 a0002c0006t0001g0111 a0002c0009t0003g0116 a0002c0009t0003g0147 a0002c0009t0003g0222 a0002c0009t0010g0143 a0002c0020t0006g0171 a0002c0037t0027g0191 a0003c0004t0007g0087 a0003c0007t0004g0175 a0003c0007t0004g0186 a0003c0007t0004g0193 a0003c0007t0004g0194 a0003c0031t0004g0088 a0003c0034t0032g0165 a0004c0008t0009g0065 a0004c0008t0041g0059 a0004c0011t0004g0180 a0004c0011t0009g0163 a0004c0011t0040g0173 a0005c0012t0007g0091 a0005c0012t0007g0092 a0005c0018t0007g0221 a0005c0021t0007g0093 a0006c0033t0014g0200 a0007c0036t0003g0162	119	230	0.5174	-39	c.154 others(58): Show c.154-13636_154-13598delTCCCCCGAGTAGCTGGGATTACAGGC ACCCACCACCACG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELFN2_chr22_37362960_37432479	37399480	GGCCCACC others(32): Show GGCCCACCTCTCCCACCTCCACCGACCACGGGGACCACCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(70): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00733.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02486.hp1 HG02735.hp1 HG02976.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18986.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp2 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19085.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0020 a0004c0012 a0006c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0053 a0001c0001t0064 a0001c0002t0004 a0001c0002t0006 a0001c0002t0022 a0001c0002t0076 a0001c0002t0090 a0001c0003t0001 a0001c0003t0012 a0001c0003t0020 a0001c0003t0034 a0001c0003t0092 a0001c0003t0094 a0001c0004t0010 a0001c0006t0001 a0001c0009t0002 a0001c0020t0002 a0004c0012t0001 a0006c0016t0002	a0001c0001t0002g0052 a0001c0001t0002g0111 a0001c0001t0002g0123 others(70): Show a0001c0001t0002g0052 a0001c0001t0002g0111 a0001c0001t0002g0123 a0001c0001t0002g0240 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0262 a0001c0001t0002g0267 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0003g0178 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0265 a0001c0001t0003g0269 a0001c0001t0003g0273 a0001c0001t0003g0282 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0009g0311 a0001c0001t0019g0258 a0001c0001t0024g0259 a0001c0001t0024g0260 a0001c0001t0026g0293 a0001c0001t0028g0276 a0001c0001t0053g0090 a0001c0001t0064g0310 a0001c0002t0004g0034 a0001c0002t0004g0038 a0001c0002t0004g0085 a0001c0002t0004g0238 a0001c0002t0004g0249 a0001c0002t0004g0254 a0001c0002t0004g0263 a0001c0002t0004g0290 a0001c0002t0006g0247 a0001c0002t0006g0253 a0001c0002t0006g0264 a0001c0002t0006g0266 a0001c0002t0006g0270 a0001c0002t0006g0271 a0001c0002t0006g0272 a0001c0002t0006g0280 a0001c0002t0022g0317 a0001c0002t0076g0035 a0001c0002t0090g0235 a0001c0003t0001g0022 a0001c0003t0001g0036 a0001c0003t0001g0109 a0001c0003t0001g0274 a0001c0003t0001g0313 a0001c0003t0012g0245 a0001c0003t0012g0308 a0001c0003t0020g0033 a0001c0003t0020g0039 a0001c0003t0034g0278 a0001c0003t0034g0279 a0001c0003t0092g0322 a0001c0003t0094g0008 a0001c0004t0010g0073 a0001c0004t0010g0179 a0001c0004t0010g0236 a0001c0004t0010g0246 a0001c0006t0001g0277 a0001c0009t0002g0112 a0001c0020t0002g0256 a0004c0012t0001g0243 a0006c0016t0002g0261	73	334	0.2186	-39	c.-46 others(60): Show c.-463+18250_-463+18288delTGGTGGTCCCCGTGGTCGGTGGAG GTGGGAGAGGTGGGC	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELFN2_chr22_37362960_37432479	37399519	AGCCCACC others(32): Show AGCCCACCTCTCCCACCTCCACCGACCACGGGGACCACCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02735.hp2 HG02818.hp1 others(8): Show HG01496.hp1 HG02735.hp2 HG02818.hp1 HG02965.hp1 HG03098.hp1 HG03654.hp1 HG04184.hp2 NA18612.hp1 NA18995.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0007	a0001c0001t0003 a0001c0001t0060 a0001c0002t0004 others(7): Show a0001c0001t0003 a0001c0001t0060 a0001c0002t0004 a0001c0002t0008 a0001c0002t0033 a0001c0002t0068 a0001c0003t0085 a0001c0003t0093 a0001c0006t0056 a0002c0007t0086	a0001c0001t0003g0084 a0001c0001t0003g0224 a0001c0001t0060g0226 others(8): Show a0001c0001t0003g0084 a0001c0001t0003g0224 a0001c0001t0060g0226 a0001c0002t0004g0010 a0001c0002t0008g0184 a0001c0002t0033g0198 a0001c0002t0068g0133 a0001c0003t0085g0189 a0001c0003t0093g0318 a0001c0006t0056g0220 a0002c0007t0086g0316	11	334	0.0329	-39	c.-46 others(60): Show c.-463+18211_-463+18249delCGGTGGTCCCCGTGGTCGGTGGAG GTGGGAGAGGTGGGC	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELFN2_chr22_37362960_37432479	37399558	GGCCCACC others(32): Show GGCCCACCTCTCCCACCTCCACCGACCACGGGGACCACCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03209.hp2 HG03453.hp2 others(3): Show HG01346.hp1 HG03209.hp2 HG03453.hp2 HG03831.hp2 NA19058.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0041	a0001c0001t0003g0140 a0001c0001t0005g0164 a0001c0003t0001g0055 others(3): Show a0001c0001t0003g0140 a0001c0001t0005g0164 a0001c0003t0001g0055 a0001c0003t0001g0138 a0001c0003t0001g0234 a0001c0003t0041g0163	6	334	0.0180	-39	c.-46 others(60): Show c.-463+18172_-463+18210delTGGTGGTCCCCGTGGTCGGTGGAG GTGGGAGAGGTGGGC	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELMO1_chr7_36847906_37453864	37192956	TTATATAT others(32): Show TTATATATATAGGAGATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	92	0.0109	-39	c.108 others(60): Show c.1086+18391_1086+18429delTATATATATATATATATATATATA TCTCCTATATATATA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELSPBP1_chr19_47989632_48030154	48016485	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0362 a0002c0002t0001g0362	1	388	0.0026	-39	c.355 others(54): Show c.355+449_355+487delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ENOSF1_chr18_665318_717630	667424	TGATGGAG others(32): Show TGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA18965.hp1 HG03540.hp1 NA18965.hp1	a0003 a0006 a0003 a0006	a0003c0007 a0006c0010 a0003c0007 a0006c0010	a0003c0007t0002 a0006c0010t0029 a0003c0007t0002 a0006c0010t0029	a0003c0007t0002g0391 a0006c0010t0029g0345 a0003c0007t0002g0391 a0006c0010t0029g0345	2	418	0.0048	-39	c.68 others(50): Show c.6842_*6880delTCCATCATCACCATCACCATCACCATCACCATCT CCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2893		chr18	TogoVar
ENOSF1_chr18_665318_717630	667430	AGATGGTG others(32): Show AGATGGTGATGGTGATGGTGATGGTGATGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA20752.hp2 HG04228.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0327 a0004c0008t0001g0386 a0001c0001t0001g0327 a0004c0008t0001g0386	2	418	0.0048	-39	c.68 others(50): Show c.6836_*6874delACCATCTCCATCATCACCATCACCATCACCATCA CCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2887		chr18	TogoVar
ENTPD8_chr9_137429364_137446357	137438500	TTAGAGGC others(32): Show TTAGAGGCATCTCCGGGGCTCAGGCGGCCTCCCGTGGCCA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0057 a0009c0024t0001g0057	1	392	0.0026	-39	c.-20 others(54): Show c.-20-234_-20-196delTGGCCACGGGAGGCCGCCTGAGCCCCGGAG ATGCCTCTA	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137438550	TCCGGGGC others(32): Show TCCGGGGCTCAGACGGCCTCCCGTGGCCATAGAGGCATCC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03471.hp1 HG01975.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0120 a0001c0001t0001g0123	2	392	0.0051	-39	c.-20 others(54): Show c.-20-284_-20-246delGGATGCCTCTATGGCCACGGGAGGCCGTCT GAGCCCCGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137438605	CCTCCCGT others(32): Show CCTCCCGTGGCCATAGAGGCATCCCCGGGGCTCAGACGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02717.hp2 HG04184.hp2 HG00099.hp1 HG02717.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0139 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0139	3	392	0.0077	-39	c.-20 others(54): Show c.-20-339_-20-301delACCGTCTGAGCCCCGGGGATGCCTCTATGG CCACGGGAG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
EPB41L4A_chr5_112157619_112424277	112353207	CAGCAGTG others(32): Show CAGCAGTGAACCAAGCATGCCTGTTGGCATGCTTGAACCA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0096 a0002c0003t0003g0096	1	228	0.0044	-39	c.100 others(58): Show c.100-45756_100-45718delTGGTTCAAGCATGCCAACAGGCATGC TTGGTTCACTGCT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109176027	TCCCTTGT others(32): Show TCCCTTGTCAATATCACACACACGCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG02280.hp1 others(13): Show HG00639.hp1 HG01192.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02976.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03942.hp1 NA18906.hp1 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0009 a0002c0003t0016 a0002c0003t0034 others(4): Show a0002c0003t0009 a0002c0003t0016 a0002c0003t0034 a0002c0005t0009 a0002c0005t0016 a0002c0005t0025 a0002c0005t0064	a0002c0003t0009g0162 a0002c0003t0016g0120 a0002c0003t0034g0310 others(13): Show a0002c0003t0009g0162 a0002c0003t0016g0120 a0002c0003t0034g0310 a0002c0005t0009g0132 a0002c0005t0009g0155 a0002c0005t0009g0158 a0002c0005t0009g0189 a0002c0005t0009g0190 a0002c0005t0009g0195 a0002c0005t0016g0047 a0002c0005t0016g0078 a0002c0005t0016g0125 a0002c0005t0025g0247 a0002c0005t0025g0252 a0002c0005t0025g0255 a0002c0005t0064g0245	16	318	0.0503	-39	c.263 others(56): Show c.2633+485_2633+523delTGTGTGTGTGTGTGTGCGTGTGTGTGAT ATTGACAAGGG	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	25/25			chr9	TogoVar
EPCAM_chr2_47364311_47392020	47365500	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	450	0.0022	-39	c.-40 others(50): Show c.-4005_-3967delTATATATATATATATATATATATATATATATATA TTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3810		chr2	TogoVar
EPHA3_chr3_89102621_89487134	89211725	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTCCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0085 a0002c0005t0005g0085	1	200	0.0050	-39	c.814 others(56): Show c.814+1222_814+1260delCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221566875	AAGGAGAA others(32): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0226 a0001c0003t0003g0226	1	294	0.0034	-39	c.159 others(56): Show c.159+1804_159+1842delCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566918	AGGAGAAG others(32): Show AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG02055.hp2 others(1): Show HG00741.hp1 HG01106.hp1 HG02055.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0003t0001	a0001c0001t0001g0225 a0001c0001t0002g0277 a0001c0001t0015g0244 others(1): Show a0001c0001t0001g0225 a0001c0001t0002g0277 a0001c0001t0015g0244 a0001c0003t0001g0276	4	294	0.0136	-39	c.159 others(56): Show c.159+1761_159+1799delCCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA6_chr3_96809594_97766532	97693982	TTAAAGGT others(32): Show TTAAAGGTAATAGAAATAAAGAACTCCTTTGTATCCAGCA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	82	0.0122	-39	c.278 others(60): Show c.2785-26276_2785-26238delAAGGTAATAGAAATAAAGAACTCC TTTGTATCCAGCATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPN3_chr17_50527735_50548750	50534063	CCTTCCTT others(32): Show CCTTCCTTTCCTCCTCCCTTCTCTGCGCTTGGGCAGGCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(308): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.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 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.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 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.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 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0004 a0001c0012 others(18): Show a0001c0001 a0001c0004 a0001c0012 a0002c0002 a0002c0009 a0002c0016 a0002c0017 a0003c0003 a0004c0005 a0005c0006 a0006c0007 a0007c0010 a0008c0008 a0009c0011 a0010c0022 a0011c0014 a0012c0021 a0013c0013 a0014c0019 a0015c0018 a0016c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0004t0001 a0001c0004t0013 a0001c0012t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0014 a0002c0002t0015 a0002c0009t0005 a0002c0016t0001 a0002c0017t0005 a0003c0003t0001 a0003c0003t0003 a0003c0003t0008 a0004c0005t0001 a0005c0006t0010 a0006c0007t0003 a0007c0010t0012 a0008c0008t0001 a0009c0011t0001 a0010c0022t0001 a0011c0014t0001 a0012c0021t0001 a0013c0013t0001 a0014c0019t0001 a0015c0018t0001 a0016c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0003g0001 a0001c0001t0003g0063 a0001c0001t0003g0097 a0001c0001t0004g0006 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0054 a0001c0001t0004g0064 a0001c0001t0004g0080 a0001c0001t0004g0084 a0001c0001t0004g0096 a0001c0001t0004g0103 a0001c0001t0004g0108 a0001c0001t0006g0078 a0001c0001t0007g0001 a0001c0001t0009g0001 a0001c0001t0011g0004 a0001c0001t0016g0040 a0001c0001t0017g0004 a0001c0004t0001g0005 a0001c0004t0001g0046 a0001c0004t0001g0077 a0001c0004t0013g0005 a0001c0012t0001g0053 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0015 a0002c0002t0001g0021 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0072 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0068 a0002c0002t0005g0002 a0002c0002t0005g0022 a0002c0002t0005g0079 a0002c0002t0005g0087 a0002c0002t0005g0102 a0002c0002t0006g0011 a0002c0002t0006g0029 a0002c0002t0006g0082 a0002c0002t0014g0002 a0002c0002t0014g0065 a0002c0002t0015g0002 a0002c0002t0015g0024 a0002c0009t0005g0031 a0002c0016t0001g0002 a0002c0017t0005g0002 a0003c0003t0001g0052 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0062 a0003c0003t0008g0016 a0003c0003t0008g0107 a0004c0005t0001g0002 a0005c0006t0010g0038 a0005c0006t0010g0101 a0006c0007t0003g0028 a0006c0007t0003g0069 a0007c0010t0012g0045 a0007c0010t0012g0106 a0008c0008t0001g0002 a0009c0011t0001g0104 a0010c0022t0001g0051 a0011c0014t0001g0024 a0012c0021t0001g0042 a0013c0013t0001g0081 a0014c0019t0001g0001 a0015c0018t0001g0085 a0016c0015t0001g0033	311	350	0.8886	-39	c.-13 others(58): Show c.-137+1142_-137+1180delCGCTTGGGCAGGCTTCTTCCTTTCCT CCTCCCTTCTCTG	EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPS8L2_chr11_701231_732727	722905	CCCCCCAG others(32): Show CCCCCCAGCCCTGACACCCACCCCTCCCCAGTGCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0365 a0002c0009t0001g0365	1	406	0.0025	-39	c.134 others(56): Show c.1341+105_1341+143delCAGCCCTGACACCCACCCCTCCCCAGTG CTCCCCTCCCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42965714	TCTCCCTC others(32): Show TCTCCCTCTCCCTCTCCCTCGTCTCCCTCTCCCTCGTCTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19240.hp1 HG01496.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0007 a0001c0001t0002 a0001c0002t0007	a0001c0001t0002g0245 a0001c0002t0007g0244 a0001c0001t0002g0245 a0001c0002t0007g0244	2	352	0.0057	-39	c.332 others(56): Show c.332-1614_332-1576delGAGACGAGGGAGAGGGAGACGAGGGAGA GGGAGAGGGAG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERBB4_chr2_211370717_212543802	211622989	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0028 a0001c0001t0020g0028	1	56	0.0179	-39	c.220 others(56): Show c.2202+894_2202+932delATATATATATATATATATATATATATAT ATATATATATT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211622991	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp2 NA18522.hp2 HG02895.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026	a0001c0001t0019g0002 a0001c0001t0024g0038 a0001c0001t0026g0052 a0001c0001t0019g0002 a0001c0001t0024g0038 a0001c0001t0026g0052	3	56	0.0536	-39	c.220 others(56): Show c.2202+892_2202+930delATATATATATATATATATATATATATAT ATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015040	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG02145.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0024 a0001c0002t0001g0020 a0001c0001t0002g0024 a0001c0002t0001g0020	2	56	0.0357	-39	c.235 others(58): Show c.235-67463_235-67425delATATATATATATATATATATATATAT ATATATATATATT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015042	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	56	0.0179	-39	c.235 others(58): Show c.235-67465_235-67427delATATATATATATATATATATATATAT ATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65991670	ATAATCTT others(32): Show ATAATCTTAGCCTAGTTAGAATTAACCTATGTATATACAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0027 a0003c0004t0027	a0003c0004t0027g0139 a0003c0004t0027g0139	1	306	0.0033	-39	c.-9- others(54): Show c.-9-1038_-9-1000delAATCTTAGCCTAGTTAGAATTAACCTATGT ATATACATT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC2_chr3_55503311_56473467	55720114	CCTCCTCC others(32): Show CCTCCTCCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0045 a0001c0001t0010g0045	1	74	0.0135	-39	c.271 others(60): Show c.2712+14618_2712+14656delAAGAAGAAGAGGAAGAAGAAGAGG AAGAAGAAGGAGGAG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55720131	CTCTTCTT others(32): Show CTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03540.hp2 NA19043.hp2 HG02970.hp2 HG03540.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0004t0001 a0003c0006t0004 a0001c0001t0001 a0001c0004t0001 a0003c0006t0004	a0001c0001t0001g0035 a0001c0004t0001g0028 a0003c0006t0004g0060 a0001c0001t0001g0035 a0001c0004t0001g0028 a0003c0006t0004g0060	3	74	0.0405	-39	c.271 others(60): Show c.2712+14601_2712+14639delAGAAGAAGAAGAAGAAGAAGAAGA AGAGGAAGAAGAAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERICH1_chr8_659200_736224	695778	TCCTCCCC others(32): Show TCCTCCCCATCAACCTGCACCTGTGCTGGCTCCTCTCACC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	378	0.0027	-39	c.170 others(56): Show c.170-3205_170-3167delGGTGAGAGGAGCCAGCACAGGTGCAGGT TGATGGGGAGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	695986	TCCTCCCC others(32): Show TCCTCCCCATCAGCCTGCGCCTGTGCTGGCTCCTCTCACC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0343 a0001c0002t0002g0343	1	378	0.0027	-39	c.170 others(56): Show c.170-3413_170-3375delGGTGAGAGGAGCCAGCACAGGCGCAGGC TGATGGGGAGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696096	TCCTCCCC others(32): Show TCCTCCCCATCAGCCTGCACCTGTGCTGGCTCCTCTCACC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG04184.hp1 others(2): Show HG00642.hp2 HG01361.hp2 HG04184.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0002t0001g0144 a0001c0002t0002g0338 a0001c0002t0002g0339 others(2): Show a0001c0002t0001g0144 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0347 a0001c0002t0005g0243	5	378	0.0132	-39	c.170 others(56): Show c.170-3523_170-3485delGGTGAGAGGAGCCAGCACAGGTGCAGGC TGATGGGGAGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696200	TCCTCCCC others(32): Show TCCTCCCCATCAGCCTGCGCCTGTGCTGGCTCCTCTCACC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19081.hp1 HG03041.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0116 a0001c0001t0001g0068 a0001c0001t0001g0116	2	378	0.0053	-39	c.170 others(56): Show c.170-3627_170-3589delGGTGAGAGGAGCCAGCACAGGCGCAGGC TGATGGGGAGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073506	ATATATAT others(32): Show ATATATATATGTATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18982.hp1 NA18999.hp1 others(1): Show NA18944.hp1 NA18982.hp1 NA18999.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0001g0422 a0001c0001t0001g0424 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0422 a0001c0001t0001g0424 a0001c0001t0002g0421	4	442	0.0091	-39	c.58+ others(54): Show c.58+8780_58+8818delTATATATATGTATATATATATATATATATA TATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ERP27_chr12_14909039_14943537	14940017	AGAAATAC others(32): Show AGAAATACAAAACACTTTTGAAAGAAATCAGAGGTGACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	402	0.0025	-39	c.-15 others(50): Show c.-1548_-1510delGTGTCACCTCTGATTTCTTTCAAAAGTGTTTTGT ATTTC	ERP27	ENSG00000139055.7	transcript	ENST00000266397.7	protein_coding		1481		chr12	TogoVar
ESPNL_chr2_238095340_238138287	238096412	AATGCCTT others(32): Show AATGCCTTCTGGCTTAATAGAACTCCCACGTGTCTCTACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0046 a0046	a0046c0130 a0046c0130	a0046c0130t0002 a0046c0130t0002	a0046c0130t0002g0318 a0046c0130t0002g0318	1	408	0.0025	-39	c.-40 others(50): Show c.-4007_-3969delATGCCTTCTGGCTTAATAGAACTCCCACGTGTCT CTACC	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		3927		chr2	TogoVar
ESPN_chr1_6419776_6465944	6447128	TGGCTGTG others(32): Show TGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0013 a0008c0022t0013	a0008c0022t0013g0034 a0008c0022t0013g0034	1	276	0.0036	-39	c.146 others(58): Show c.1464+1203_1464+1241delAGCCCCCTCCCGGCTGTGTGCGTCCC TCCGGGCTGTGTG	ESPN	ENSG00000187017.18	transcript	ENST00000645284.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar

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