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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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
EPSTI1_chr13_42881388_42997241	42911266	CGCGCGCA others(19): Show CGCGCGCACGCGCGCACACGTGTGTGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02976.hp1 HG01891.hp1 HG02615.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0006	a0001c0001t0002g0191 a0001c0002t0006g0253 a0001c0002t0006g0257 a0001c0001t0002g0191 a0001c0002t0006g0253 a0001c0002t0006g0257	3	352	0.0085	-26	c.741 others(43): Show c.741+6249_741+6274delTCACACACGTGTGCGCGCGTGCGCGC	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	8/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42911276	CGCGCACA others(19): Show CGCGCACACGTGTGTGAGTGTGCACAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG03195.hp1 others(3): Show HG00735.hp2 HG00741.hp2 HG03195.hp1 NA18968.hp2 NA18998.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0008 a0001c0002 a0001c0003 a0002c0008	a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 a0002c0008t0054	a0001c0002t0001g0059 a0001c0002t0003g0229 a0001c0002t0003g0250 others(3): Show a0001c0002t0001g0059 a0001c0002t0003g0229 a0001c0002t0003g0250 a0001c0003t0003g0189 a0001c0003t0003g0192 a0002c0008t0054g0317	6	352	0.0171	-26	c.741 others(43): Show c.741+6239_741+6264delATGTGCACACTCACACACGTGTGCGC	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	8/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42942658	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0233 a0001c0002t0048g0233	1	352	0.0028	-26	c.563 others(45): Show c.563+11264_563+11289delAAAAAAAAAAAAAAAAAAAAAAAAAA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
ERAP1_chr5_96769484_96812945	96808187	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01257.hp1 HG01258.hp2 others(4): Show HG01168.hp1 HG01257.hp1 HG01258.hp2 HG02886.hp2 NA18949.hp1 NA18990.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0004 a0007c0008 a0002c0002 a0004c0004 a0007c0008	a0002c0002t0001 a0004c0004t0001 a0007c0008t0001 others(1): Show a0002c0002t0001 a0004c0004t0001 a0007c0008t0001 a0007c0008t0003	a0002c0002t0001g0001 a0002c0002t0001g0232 a0004c0004t0001g0281 others(3): Show a0002c0002t0001g0001 a0002c0002t0001g0232 a0004c0004t0001g0281 a0007c0008t0001g0053 a0007c0008t0003g0020 a0007c0008t0003g0021	7	416	0.0168	-26	c.-37 others(35): Show c.-371_-346delACACACACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211697096	TTTCTTAA others(19): Show TTTCTTAATGTATGTATACTCATCTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG03834.hp1 HG01243.hp1 HG02258.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015	a0001c0001t0009g0046 a0001c0001t0010g0022 a0001c0001t0015g0034 a0001c0001t0009g0046 a0001c0001t0010g0022 a0001c0001t0015g0034	3	56	0.0536	-26	c.148 others(45): Show c.1489+4845_1489+4870delGCAGATGAGTATACATACATTAAGAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	12/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211772812	TATATATA others(19): Show TATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG01243.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0009 a0001c0001t0010	a0001c0001t0009g0046 a0001c0001t0010g0022 a0001c0001t0009g0046 a0001c0001t0010g0022	2	56	0.0357	-26	c.556 others(45): Show c.556+15187_556+15212delGTGTATATATATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211773598	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp1 HG03471.hp1 HG02615.hp1 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0026 a0001c0001t0006g0039 a0001c0001t0022g0006 a0001c0001t0006g0026 a0001c0001t0006g0039 a0001c0001t0022g0006	3	56	0.0536	-26	c.556 others(45): Show c.556+14401_556+14426delTATATATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015087	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0028 a0001c0001t0020g0028	1	56	0.0179	-26	c.235 others(45): Show c.235-67497_235-67472delTTATATATATATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212373973	CATATATA others(19): Show CATATATATATATCCATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0038 a0001c0001t0024g0038	1	56	0.0179	-26	c.82+ others(45): Show c.82+164450_82+164475delATGGATATATATGGATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212446578	CATATATA others(19): Show CATATATATATATGTATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	56	0.0179	-26	c.82+ others(43): Show c.82+91845_82+91870delATATATATATATACATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65965372	GTTTTTTG others(19): Show GTTTTTTGTTGTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp1 HG03139.hp2 HG02572.hp1 HG03041.hp1 HG03139.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0025 a0004c0005t0004 a0004c0005t0025	a0004c0005t0004g0009 a0004c0005t0004g0027 a0004c0005t0025g0012 a0004c0005t0004g0009 a0004c0005t0004g0027 a0004c0005t0025g0012	3	306	0.0098	-26	c.-57 others(45): Show c.-57-23256_-57-23231delGTTGTTTTTTTTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65989040	TTCTTCTT others(19): Show TTCTTCTTCGTTGTGATTAGAAGATTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(152): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0011 a0013 a0014 a0015 a0016	a0001c0001 a0001c0020 a0001c0021 others(9): Show a0001c0001 a0001c0020 a0001c0021 a0001c0022 a0003c0004 a0003c0025 a0006c0008 a0011c0019 a0013c0018 a0014c0023 a0015c0024 a0016c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0020t0001 a0001c0021t0001 a0001c0022t0009 a0003c0004t0001 a0003c0004t0017 a0003c0004t0021 a0003c0004t0023 a0003c0004t0026 a0003c0004t0027 a0003c0025t0001 a0006c0008t0003 a0011c0019t0001 a0013c0018t0001 a0014c0023t0001 a0015c0024t0022 a0016c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(152): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0003g0113 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0013g0100 a0001c0001t0013g0124 a0001c0001t0013g0125 a0001c0001t0014g0070 a0001c0001t0014g0071 a0001c0001t0020g0142 a0001c0001t0024g0158 a0001c0001t0028g0092 a0001c0020t0001g0117 a0001c0021t0001g0101 a0001c0022t0009g0035 a0003c0004t0001g0001 a0003c0004t0001g0089 a0003c0004t0001g0094 a0003c0004t0001g0105 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0122 a0003c0004t0001g0127 a0003c0004t0001g0128 a0003c0004t0001g0130 a0003c0004t0001g0131 a0003c0004t0001g0132 a0003c0004t0001g0134 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0140 a0003c0004t0001g0141 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0302 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0017g0121 a0003c0004t0021g0303 a0003c0004t0023g0304 a0003c0004t0026g0301 a0003c0004t0027g0139 a0003c0025t0001g0143 a0006c0008t0003g0084 a0011c0019t0001g0088 a0013c0018t0001g0049 a0014c0023t0001g0087 a0015c0024t0022g0146 a0016c0013t0001g0062	155	306	0.5065	-26	c.-10 others(41): Show c.-10+360_-10+385delCTTCTTCGTTGTGATTAGAAGATTCT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018473	TTATATAT others(19): Show TTATATATTATATATTATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0298 a0001c0002t0019g0298	1	306	0.0033	-26	c.534 others(43): Show c.534-2829_534-2804delTATATAATATATATTATATATTATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66065591	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02572.hp1 others(7): Show HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02818.hp1 HG03041.hp1 HG03486.hp1 HG03579.hp1 HG03579.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0007 a0004c0005 others(2): Show a0001c0001 a0001c0007 a0004c0005 a0004c0017 a0005c0006	a0001c0001t0006 a0001c0007t0012 a0004c0005t0004 others(2): Show a0001c0001t0006 a0001c0007t0012 a0004c0005t0004 a0004c0017t0004 a0005c0006t0015	a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0007t0012g0218 others(7): Show a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0007t0012g0218 a0001c0007t0012g0220 a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0027 a0004c0017t0004g0011 a0005c0006t0015g0225	10	306	0.0327	-26	c.363 others(45): Show c.3634-6534_3634-6509delGTGTGTGTGTGTGTGTGTGTGTGTGT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	991174	TGGGGGCG others(19): Show TGGGGGCGGGGCTAGGTGTCTCGCGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	162	0.0062	-26	c.-30 others(35): Show c.-304_-279delGGGGGCGGGGCTAGGTGTCTCGCGCA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding		48		chr12	TogoVar
ERC1_chr12_986223_1500931	1143329	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	162	0.0062	-26	c.173 others(45): Show c.1737+1569_1737+1594delGTGTGTGTGTGTGTGTGTGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196905	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0051 a0002c0006t0051	a0002c0006t0051g0081 a0002c0006t0051g0081	1	162	0.0062	-26	c.235 others(45): Show c.2351+6885_2351+6910delCACACACACACACACACACACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418565	TTTTCTTT others(19): Show TTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0140 a0002c0002t0140	a0002c0002t0140g0108 a0002c0002t0140g0108	1	162	0.0062	-26	c.302 others(47): Show c.3024+10344_3024+10369delCTTTCTTTCTTTCTTTCTTTCTTT CT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418615	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp1 HG03579.hp1 HG06807.hp1	a0007 a0008 a0007 a0008	a0007c0012 a0008c0011 a0007c0012 a0008c0011	a0007c0012t0073 a0008c0011t0044 a0007c0012t0073 a0008c0011t0044	a0007c0012t0073g0067 a0008c0011t0044g0068 a0007c0012t0073g0067 a0008c0011t0044g0068	2	162	0.0124	-26	c.302 others(47): Show c.3024+10370_3024+10395delTTCTTTCTTTCTTTCTTTCTTTCT TT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1440600	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02257.hp1 NA20129.hp2 others(1): Show HG01361.hp2 HG02257.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0033 a0001c0003t0022 a0001c0003t0046 others(1): Show a0001c0001t0033 a0001c0003t0022 a0001c0003t0046 a0001c0003t0088	a0001c0001t0033g0111 a0001c0003t0022g0114 a0001c0003t0046g0088 others(1): Show a0001c0001t0033g0111 a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021	4	162	0.0247	-26	c.302 others(45): Show c.3025-3919_3025-3894delTGTGTGTGTGTGTGTGTGTGTGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55720212	TTCTTCTT others(19): Show TTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	74	0.0135	-26	c.271 others(47): Show c.2712+14533_2712+14558delGAAGAAGAAGAAGAAGAAGAAGAA GA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56311233	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02647.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0013 a0001c0001t0001 a0001c0002t0013	a0001c0001t0001g0013 a0001c0002t0013g0074 a0001c0001t0001g0013 a0001c0002t0013g0074	2	74	0.0270	-26	c.658 others(45): Show c.658-14824_658-14799delTATAGAGAGAGAGAGAGAGAGAGAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45374289	GCACACAC others(19): Show GCACACACACACACGCACGCACGCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(54): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18965.hp1 NA19054.hp1 NA19056.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0013	a0001c0001 a0001c0016 a0002c0003 others(5): Show a0001c0001 a0001c0016 a0002c0003 a0002c0005 a0003c0026 a0004c0004 a0005c0011 a0013c0018	a0001c0001t0001 a0001c0001t0013 a0001c0016t0001 others(15): Show a0001c0001t0001 a0001c0001t0013 a0001c0016t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0015 a0002c0003t0019 a0002c0003t0022 a0002c0003t0023 a0002c0003t0037 a0002c0005t0003 a0002c0005t0008 a0002c0005t0020 a0003c0026t0009 a0004c0004t0001 a0004c0004t0002 a0005c0011t0001 a0013c0018t0017	a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0177 others(37): Show a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0013g0180 a0001c0001t0013g0181 a0001c0016t0001g0176 a0002c0003t0003g0003 a0002c0003t0003g0012 a0002c0003t0003g0065 a0002c0003t0003g0067 a0002c0003t0003g0080 a0002c0003t0003g0081 a0002c0003t0003g0089 a0002c0003t0003g0090 a0002c0003t0003g0092 a0002c0003t0003g0093 a0002c0003t0003g0094 a0002c0003t0003g0182 a0002c0003t0003g0183 a0002c0003t0003g0198 a0002c0003t0005g0011 a0002c0003t0005g0082 a0002c0003t0005g0085 a0002c0003t0005g0086 a0002c0003t0015g0023 a0002c0003t0019g0095 a0002c0003t0022g0083 a0002c0003t0023g0084 a0002c0003t0037g0191 a0002c0005t0003g0006 a0002c0005t0008g0088 a0002c0005t0020g0087 a0003c0026t0009g0200 a0004c0004t0001g0073 a0004c0004t0001g0091 a0004c0004t0002g0013 a0005c0011t0001g0050 a0013c0018t0017g0068	57	412	0.1384	-26	c.-37 others(37): Show c.-3775_-3750delTGTGCGTGCGTGCGTGTGTGTGTGTG	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		3717		chr19	TogoVar
ERCC6_chr10_49449470_49544121	49526089	ATTTATAT others(19): Show ATTTATATATTTATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18954.hp1 NA19077.hp2 others(1): Show HG03669.hp1 NA18954.hp1 NA19077.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0004 a0002c0002t0005	a0002c0002t0004g0051 a0002c0002t0004g0079 a0002c0002t0005g0036 others(1): Show a0002c0002t0004g0051 a0002c0002t0004g0079 a0002c0002t0005g0036 a0002c0002t0005g0052	4	388	0.0103	-26	c.653 others(43): Show c.653-1338_653-1313delAATATATAAATATATAAATATATAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526115	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02630.hp1 HG02809.hp2 others(2): Show HG01981.hp1 HG02630.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp2	a0002 a0016 a0021 a0002 a0016 a0021	a0002c0012 a0002c0025 a0016c0028 others(1): Show a0002c0012 a0002c0025 a0016c0028 a0021c0026	a0002c0012t0014 a0002c0025t0014 a0016c0028t0001 others(1): Show a0002c0012t0014 a0002c0025t0014 a0016c0028t0001 a0021c0026t0030	a0002c0012t0014g0323 a0002c0012t0014g0325 a0002c0025t0014g0324 others(2): Show a0002c0012t0014g0323 a0002c0012t0014g0325 a0002c0025t0014g0324 a0016c0028t0001g0091 a0021c0026t0030g0330	5	388	0.0129	-26	c.653 others(43): Show c.653-1364_653-1339delTATATATATATATATATATATATAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526117	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0332 a0001c0005t0003g0332	1	388	0.0026	-26	c.653 others(43): Show c.653-1366_653-1341delTATATATATATATATATATATATATA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526089	ATTTATAT others(19): Show ATTTATATATTTATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18954.hp1 NA19077.hp1 HG03669.hp2 NA18954.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0077 a0002c0002t0002g0030 a0002c0002t0002g0077	3	402	0.0075	-26	c.653 others(43): Show c.653-1338_653-1313delAATATATAAATATATAAATATATAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526115	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02630.hp2 HG02809.hp2 others(2): Show HG01981.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0002c0016 a0001c0005 a0002c0003 a0002c0016	a0001c0005t0001 a0002c0003t0001 a0002c0016t0001 a0001c0005t0001 a0002c0003t0001 a0002c0016t0001	a0001c0005t0001g0207 a0002c0003t0001g0028 a0002c0016t0001g0086 a0001c0005t0001g0207 a0002c0003t0001g0028 a0002c0016t0001g0086	5	402	0.0124	-26	c.653 others(43): Show c.653-1364_653-1339delTATATATATATATATATATATATAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526117	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	402	0.0025	-26	c.653 others(43): Show c.653-1366_653-1341delTATATATATATATATATATATATATA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC8_chr5_60861454_60950070	60938040	CATACATA others(19): Show CATACATACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19076.hp1 HG02818.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0229 a0001c0001t0012g0184 a0001c0001t0009g0229 a0001c0001t0012g0184	2	302	0.0066	-26	c.77+ others(41): Show c.77+6866_77+6891delATATATATATATATATATGTATGTAT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938065	ATATATAT others(19): Show ATATATATATATATATATATATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(59): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp2 HG01074.hp2 HG01168.hp1 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02135.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03453.hp2 HG03491.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18986.hp2 NA18988.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19076.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0075 a0001c0004t0001 a0001c0004t0039 a0001c0004t0078 a0001c0007t0013	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0040 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0053 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0011g0093 a0001c0001t0011g0149 a0001c0001t0013g0126 a0001c0001t0013g0137 a0001c0001t0013g0148 a0001c0001t0013g0153 a0001c0001t0019g0132 a0001c0001t0019g0134 a0001c0001t0019g0159 a0001c0001t0035g0121 a0001c0001t0035g0127 a0001c0001t0036g0154 a0001c0001t0039g0123 a0001c0001t0062g0101 a0001c0001t0063g0136 a0001c0001t0064g0130 a0001c0001t0065g0144 a0001c0001t0066g0102 a0001c0001t0068g0133 a0001c0001t0069g0138 a0001c0001t0070g0122 a0001c0001t0075g0095 a0001c0004t0001g0100 a0001c0004t0001g0143 a0001c0004t0001g0160 a0001c0004t0039g0161 a0001c0004t0078g0187 a0001c0007t0013g0129	62	302	0.2053	-26	c.77+ others(41): Show c.77+6841_77+6866delATAAAATATATATATATATATATATA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938067	ATATATAT others(19): Show ATATATATATATATATATATTTTATTT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	302	0.0033	-26	c.77+ others(41): Show c.77+6839_77+6864delAAATAAAATATATATATATATATATA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
ERFL_chr19_41902704_41933449	41914853	CCCCCTCC others(19): Show CCCCCTCCACCATCTCTGTCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	330	0.0030	-26	c.-13 others(43): Show c.-13-1947_-13-1922delAGGGAGAGACAGAGATGGTGGAGGGG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914862	CCATCTCT others(19): Show CCATCTCTGTCTCTCCCTCCCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG04228.hp1 HG02818.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0041 a0001c0002t0002g0091 a0001c0001t0001g0041 a0001c0002t0002g0091	2	330	0.0061	-26	c.-13 others(43): Show c.-13-1956_-13-1931delATGGAGGGGAGGGAGAGACAGAGATG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERG28_chr14_75644791_75665876	75656279	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	420	0.0024	-26	c.133 others(43): Show c.133+1065_133+1090delGTGTGTGTGTGTGTGTGTGTGTGTGT	ERG28	ENSG00000133935.7	transcript	ENST00000256319.7	protein_coding	2/4			chr14	TogoVar
ERI3_chr1_44216070_44360257	44342812	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19056.hp2 NA19009.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0338 a0001c0001t0001g0339	2	340	0.0059	-26	c.212 others(43): Show c.212-3516_212-3491delATATATATATATATATATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342841	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	340	0.0029	-26	c.212 others(43): Show c.212-3545_212-3520delAAAAAAAAAATATATATATATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	675184	GTGAGGAC others(19): Show GTGAGGACAGAGACGCGGCGCCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18950.hp1 HG03098.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0242 a0001c0002t0001g0074 a0001c0001t0001g0242 a0001c0002t0001g0074	2	378	0.0053	-26	c.305 others(43): Show c.305-1163_305-1138delGAGGGGGCGCCGCGTCTCTGTCCTCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675679	GTGAGGAC others(19): Show GTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	378	0.0027	-26	c.305 others(43): Show c.305-1658_305-1633delGAGGGGCCGCCGCGTCTCTGTCCTCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675706	GTGAGGAC others(19): Show GTGAGGACAGAGGCGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0261 a0001c0001t0002g0262	2	378	0.0053	-26	c.305 others(43): Show c.305-1685_305-1660delGAGGGGCCGCCGCGCCTCTGTCCTCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676061	GTGAGGAC others(19): Show GTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0340 a0001c0002t0002g0340	1	378	0.0027	-26	c.305 others(43): Show c.305-2040_305-2015delGAGGGGCCGCCGCGTCTCTGTCCTCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45606497	GTGTATGT others(19): Show GTGTATGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp2 HG02572.hp1 others(7): Show HG01192.hp2 HG02258.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp2	a0007 a0017 a0019 others(1): Show a0007 a0017 a0019 a0025	a0007c0008 a0007c0010 a0017c0018 others(2): Show a0007c0008 a0007c0010 a0017c0018 a0019c0023 a0025c0038	a0007c0008t0002 a0007c0010t0002 a0017c0018t0001 others(2): Show a0007c0008t0002 a0007c0010t0002 a0017c0018t0001 a0019c0023t0001 a0025c0038t0002	a0007c0008t0002g0031 a0007c0008t0002g0300 a0007c0010t0002g0011 others(6): Show a0007c0008t0002g0031 a0007c0008t0002g0300 a0007c0010t0002g0011 a0007c0010t0002g0104 a0007c0010t0002g0229 a0007c0010t0002g0231 a0017c0018t0001g0299 a0019c0023t0001g0230 a0025c0038t0002g0295	10	326	0.0307	-26	c.-59 others(43): Show c.-59+1041_-59+1066delTATATATATATATATATACACATACA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERO1A_chr14_52634915_52700558	52647142	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00621.hp2 others(83): Show HG00280.hp1 HG00438.hp2 HG00621.hp2 HG01069.hp1 HG01099.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18975.hp1 NA18981.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19086.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031	a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0020 others(77): Show a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0147 a0001c0001t0002g0155 a0001c0001t0002g0195 a0001c0001t0002g0225 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0275 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0307 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0375 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0003g0012 a0001c0001t0003g0029 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0329 a0001c0001t0007g0016 a0001c0001t0007g0080 a0001c0001t0007g0310 a0001c0001t0007g0335 a0001c0001t0007g0336 a0001c0001t0007g0341 a0001c0001t0007g0342 a0001c0001t0007g0344 a0001c0001t0016g0018 a0001c0001t0017g0268 a0001c0001t0018g0048 a0001c0001t0018g0128 a0001c0001t0030g0343 a0001c0001t0031g0340	86	398	0.2161	-26	c.112 others(43): Show c.1126-707_1126-682delAAAAAAAAAAAAAAAAAAAAAAAAAA	ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	13/15			chr14	TogoVar
ERO1B_chr1_236210101_236286958	236245520	GTGTGTGT others(19): Show GTGTGTGTATATATATGTGTGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0261 a0002c0002t0012g0261	1	396	0.0025	-26	c.432 others(43): Show c.432-2051_432-2026delTACATACACACATATATATACACACA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERV3-1_chr7_64985356_65011687	64989443	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02615.hp2 HG02896.hp1 others(1): Show HG01175.hp2 HG02615.hp2 HG02896.hp1 HG03453.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0002c0002t0001 a0004c0004t0004 a0001c0001t0002 a0002c0002t0001 a0004c0004t0004	a0001c0001t0002g0017 a0002c0002t0001g0002 a0004c0004t0004g0006 a0001c0001t0002g0017 a0002c0002t0001g0002 a0004c0004t0004g0006	4	458	0.0087	-26	c.17 others(37): Show c.1743_*1768delTATATATATATATATATATATATATA	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding		912		chr7	TogoVar
ESCO2_chr8_27769554_27810316	27802630	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	380	0.0026	-26	c.167 others(43): Show c.1674-675_1674-650delATATATATATATATATATATATATAT	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10			chr8	TogoVar
ESD_chr13_46766256_46802161	46779714	TATATATA others(19): Show TATATATATAAAATAATATATATAATA	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	406	0.0025	-26	c.600 others(41): Show c.600+195_600+220delTATTATATATATTATTTTATATATAT	ESD	ENSG00000139684.15	transcript	ENST00000378720.8	protein_coding	8/9			chr13	TogoVar
ESR2_chr14_64223317_64299371	64253560	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03225.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0204 a0001c0002t0011g0205 a0001c0002t0011g0206 others(1): Show a0001c0002t0011g0204 a0001c0002t0011g0205 a0001c0002t0011g0206 a0001c0002t0011g0207	4	368	0.0109	-26	c.109 others(45): Show c.1091+3640_1091+3665delCACACACACACACACACACACACACA	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding	6/8			chr14	TogoVar
ESRRB_chr14_76371137_76506837	76458457	CACACACA others(19): Show CACACACACACACAAACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG03195.hp2 others(1): Show HG02257.hp2 HG02717.hp1 HG03195.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0223 a0001c0001t0007g0230 a0001c0002t0003g0213 others(1): Show a0001c0001t0001g0223 a0001c0001t0007g0230 a0001c0002t0003g0213 a0001c0002t0006g0307	4	318	0.0126	-26	c.461 others(43): Show c.461-4087_461-4062delACACACACACACAAACACACACACAT	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6			chr14	TogoVar
ESYT2_chr7_158725997_158834509	158729609	GTGGAGGT others(19): Show GTGGAGGTGGGGGCGTTGGAGCAGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02895.hp1 HG02896.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0325 a0003c0003t0007g0329 a0003c0003t0007g0325 a0003c0003t0007g0329	2	370	0.0054	-26	c.45 others(37): Show c.4572_*4597delTACCTGCTCCAACGCCCCCACCTCCA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1387		chr7	TogoVar

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