Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ERC1_chr12_986223_1500931	1122427	ATCTCTAT others(9): Show ATCTCTATCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0041 a0009c0008t0041	a0009c0008t0041g0140 a0009c0008t0041g0140	1	162	0.0062	-16	c.156 others(35): Show c.1569+6396_1569+6411delCTCTATCTGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1180276	TGTGTGTG others(9): Show TGTGTGTGCGCGCACGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0080 a0002c0002t0080	a0002c0002t0080g0127 a0002c0002t0080g0127	1	162	0.0062	-16	c.173 others(33): Show c.1738-258_1738-243delTGCGCGCACGCGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1180282	TGCGCGCA others(9): Show TGCGCGCACGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp2 HG02055.hp1 others(14): Show HG01358.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02809.hp1 HG02896.hp2 HG03225.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0130 a0001c0001t0133 a0001c0001t0138 others(12): Show a0001c0001t0130 a0001c0001t0133 a0001c0001t0138 a0002c0002t0001 a0002c0002t0006 a0002c0002t0039 a0002c0002t0075 a0002c0002t0078 a0002c0002t0079 a0002c0002t0081 a0002c0002t0085 a0002c0002t0115 a0002c0002t0129 a0002c0002t0139 a0002c0002t0140	a0001c0001t0130g0102 a0001c0001t0133g0094 a0001c0001t0138g0095 others(14): Show a0001c0001t0130g0102 a0001c0001t0133g0094 a0001c0001t0138g0095 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0039g0151 a0002c0002t0075g0073 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0081g0123 a0002c0002t0085g0142 a0002c0002t0115g0049 a0002c0002t0129g0106 a0002c0002t0139g0096 a0002c0002t0140g0108	17	162	0.1049	-16	c.173 others(33): Show c.1738-251_1738-236delACGCGTGTGCGCGCGC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1180289	ACGCGTGT others(9): Show ACGCGTGTGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp1 HG02572.hp1 others(4): Show HG00639.hp2 HG02451.hp1 HG02572.hp1 HG02717.hp2 HG03139.hp2 HG03209.hp1 HG03579.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0016 a0002c0002t0104 a0002c0002t0131 others(3): Show a0002c0002t0016 a0002c0002t0104 a0002c0002t0131 a0002c0002t0134 a0002c0002t0136 a0005c0010t0082	a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0104g0043 others(4): Show a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0104g0043 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0136g0100 a0005c0010t0082g0126	7	162	0.0432	-16	c.173 others(33): Show c.1738-249_1738-234delGCGTGTGCGCGCGCGC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1183773	GGGAGGTT others(9): Show GGGAGGTTGAGGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01261.hp1 others(28): Show HG00639.hp2 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0007 others(1): Show a0001c0001 a0002c0002 a0002c0007 a0005c0010	a0001c0001t0019 a0001c0001t0040 a0001c0001t0045 others(25): Show a0001c0001t0019 a0001c0001t0040 a0001c0001t0045 a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0001t0138 a0002c0002t0001 a0002c0002t0006 a0002c0002t0016 a0002c0002t0039 a0002c0002t0042 a0002c0002t0075 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0085 a0002c0002t0104 a0002c0002t0115 a0002c0002t0129 a0002c0002t0131 a0002c0002t0134 a0002c0002t0136 a0002c0002t0139 a0002c0002t0140 a0002c0007t0059 a0005c0010t0082	a0001c0001t0019g0120 a0001c0001t0040g0150 a0001c0001t0045g0066 others(28): Show a0001c0001t0019g0120 a0001c0001t0040g0150 a0001c0001t0045g0066 a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 a0001c0001t0138g0095 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0039g0151 a0002c0002t0042g0079 a0002c0002t0075g0073 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0080g0127 a0002c0002t0081g0123 a0002c0002t0085g0142 a0002c0002t0104g0043 a0002c0002t0115g0049 a0002c0002t0129g0106 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0136g0100 a0002c0002t0139g0096 a0002c0002t0140g0108 a0002c0007t0059g0071 a0005c0010t0082g0126	31	162	0.1914	-16	c.215 others(33): Show c.2157+356_2157+371delGGTTGAGGTGGGAGGA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196905	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG03579.hp1 others(4): Show HG02922.hp2 HG02976.hp2 HG03579.hp1 HG03654.hp1 HG06807.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0014 a0001c0001t0050 a0001c0003t0088 others(4): Show a0001c0001t0014 a0001c0001t0050 a0001c0003t0088 a0002c0002t0035 a0002c0002t0036 a0007c0012t0073 a0008c0011t0044	a0001c0001t0014g0036 a0001c0001t0050g0144 a0001c0003t0088g0021 others(4): Show a0001c0001t0014g0036 a0001c0001t0050g0144 a0001c0003t0088g0021 a0002c0002t0035g0143 a0002c0002t0036g0158 a0007c0012t0073g0067 a0008c0011t0044g0068	7	162	0.0432	-16	c.235 others(35): Show c.2351+6895_2351+6910delCACACACACACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196949	CACACACA others(9): Show CACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02895.hp2 NA18949.hp1 HG02129.hp2 HG02895.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0106 a0001c0001t0119 a0001c0001t0087 a0001c0001t0106 a0001c0001t0119	a0001c0001t0087g0046 a0001c0001t0106g0003 a0001c0001t0119g0061 a0001c0001t0087g0046 a0001c0001t0106g0003 a0001c0001t0119g0061	3	162	0.0185	-16	c.235 others(35): Show c.2351+6899_2351+6914delCACACACACACATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1225449	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0005 a0001c0001t0013g0005	1	162	0.0062	-16	c.235 others(37): Show c.2352-11291_2352-11276delACACACACACACACAC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1289084	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0116 a0002c0002t0116	a0002c0002t0116g0107 a0002c0002t0116g0107	1	162	0.0062	-16	c.262 others(33): Show c.2620-736_2620-721delCACACACACACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1314561	TACCTGAA others(9): Show TACCTGAATTTTTGACA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0082 a0002c0002t0038g0082	1	162	0.0062	-16	c.278 others(37): Show c.2780+24551_2780+24566delCCTGAATTTTTGACAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1393607	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0042 a0002c0002t0037g0042	1	162	0.0062	-16	c.292 others(37): Show c.2926-14515_2926-14500delGTGTGTGTGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1405146	TATAAATA others(9): Show TATAAATAAATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG02055.hp2 others(13): Show HG00639.hp2 HG01106.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG03209.hp1 HG03516.hp2 HG04199.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0002 a0002c0007 others(1): Show a0001c0003 a0002c0002 a0002c0007 a0005c0010	a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 others(10): Show a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0002c0002t0002 a0002c0002t0076 a0002c0002t0085 a0002c0002t0089 a0002c0002t0104 a0002c0002t0105 a0002c0002t0131 a0002c0007t0059 a0005c0010t0082	a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 others(13): Show a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0076g0146 a0002c0002t0085g0142 a0002c0002t0089g0037 a0002c0002t0104g0043 a0002c0002t0105g0148 a0002c0002t0131g0065 a0002c0007t0059g0071 a0005c0010t0082g0126	16	162	0.0988	-16	c.292 others(35): Show c.2926-2983_2926-2968delAATAAATAAATAAATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418589	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01261.hp2 others(10): Show HG01175.hp1 HG01175.hp2 HG01261.hp2 HG01993.hp2 HG02280.hp1 HG02735.hp2 NA18949.hp2 NA19030.hp2 NA19043.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 others(10): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0029 a0001c0001t0056 a0001c0001t0069 a0001c0001t0107 a0001c0001t0110 a0001c0001t0111 a0001c0001t0126 a0001c0001t0141 a0001c0003t0088 a0002c0002t0064	a0001c0001t0011g0020 a0001c0001t0014g0036 a0001c0001t0015g0038 others(10): Show a0001c0001t0011g0020 a0001c0001t0014g0036 a0001c0001t0015g0038 a0001c0001t0029g0160 a0001c0001t0056g0085 a0001c0001t0069g0092 a0001c0001t0107g0006 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0126g0030 a0001c0001t0141g0002 a0001c0003t0088g0021 a0002c0002t0064g0069	13	162	0.0803	-16	c.302 others(37): Show c.3024+10382_3024+10397delTTCTTTCTTTCTTTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418666	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02258.hp1 others(10): Show HG01243.hp1 HG02055.hp2 HG02258.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG03130.hp2 NA18966.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0034 a0002c0002t0002 a0002c0002t0052 others(7): Show a0001c0001t0034 a0002c0002t0002 a0002c0002t0052 a0002c0002t0055 a0002c0002t0076 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0128 a0002c0002t0136	a0001c0001t0034g0161 a0002c0002t0002g0087 a0002c0002t0002g0089 others(10): Show a0001c0001t0034g0161 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0052g0154 a0002c0002t0055g0137 a0002c0002t0076g0146 a0002c0002t0100g0134 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0128g0054 a0002c0002t0136g0100	13	162	0.0803	-16	c.302 others(37): Show c.3024+10463_3024+10478delCTTTCTTTCTTTCTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1424793	TGATAGAT others(9): Show TGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp1 HG01261.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0069 a0001c0001t0003 a0001c0001t0069	a0001c0001t0003g0035 a0001c0001t0069g0092 a0001c0001t0003g0035 a0001c0001t0069g0092	2	162	0.0124	-16	c.302 others(37): Show c.3024+16582_3024+16597delAGATAGATAGATAGAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1424836	TAGATAGA others(9): Show TAGATAGATGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02965.hp1 NA18966.hp2 HG01496.hp2 HG02965.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0034 a0002c0002t0055 a0002c0002t0084 a0001c0001t0034 a0002c0002t0055 a0002c0002t0084	a0001c0001t0034g0161 a0002c0002t0055g0137 a0002c0002t0084g0025 a0001c0001t0034g0161 a0002c0002t0055g0137 a0002c0002t0084g0025	3	162	0.0185	-16	c.302 others(37): Show c.3024+16590_3024+16605delAGATAGATGATAGATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1424848	AGATAGAT others(9): Show AGATAGATAGATAGATC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0088 a0001c0003t0046g0088	1	162	0.0062	-16	c.302 others(37): Show c.3024+16617_3024+16632delCGATAGATAGATAGAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1440600	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02258.hp2 HG02280.hp2 others(1): Show HG01175.hp2 HG02258.hp2 HG02280.hp2 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0056 a0002c0002t0017 a0002c0002t0060 others(1): Show a0001c0001t0056 a0002c0002t0017 a0002c0002t0060 a0002c0002t0085	a0001c0001t0056g0085 a0002c0002t0017g0097 a0002c0002t0060g0040 others(1): Show a0001c0001t0056g0085 a0002c0002t0017g0097 a0002c0002t0060g0040 a0002c0002t0085g0142	4	162	0.0247	-16	c.302 others(35): Show c.3025-3909_3025-3894delTGTGTGTGTGTGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1483668	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG01192.hp2 others(31): Show HG00323.hp1 HG00408.hp1 HG01192.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01952.hp2 HG01981.hp1 HG02155.hp2 HG02257.hp1 HG02602.hp1 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp2 HG03669.hp2 HG04199.hp1 NA18612.hp2 NA18949.hp1 NA18966.hp2 NA18982.hp2 NA19043.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(26): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0023 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0045 a0001c0001t0057 a0001c0001t0068 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0103 a0001c0001t0118 a0001c0001t0119 a0001c0001t0126 a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0002c0002t0002 a0002c0002t0038 a0002c0002t0076 a0003c0004t0096 a0004c0005t0122	a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0007g0044 others(31): Show a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0011g0034 a0001c0001t0012g0022 a0001c0001t0015g0023 a0001c0001t0015g0038 a0001c0001t0023g0162 a0001c0001t0030g0109 a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0001t0040g0150 a0001c0001t0045g0066 a0001c0001t0057g0156 a0001c0001t0068g0083 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0093g0008 a0001c0001t0103g0132 a0001c0001t0118g0026 a0001c0001t0119g0061 a0001c0001t0126g0030 a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0038g0082 a0002c0002t0076g0146 a0003c0004t0096g0063 a0004c0005t0122g0057	34	162	0.2099	-16	c.321 others(35): Show c.3214-6402_3214-6387delTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1487372	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0012 a0001c0001t0077g0012	1	162	0.0062	-16	c.321 others(35): Show c.3214-2708_3214-2693delTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55583367	CTGCCTTC others(9): Show CTGCCTTCTTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	74	0.0135	-16	c.40 others(35): Show c.40-72107_*40-72092delAGAAGGAAAGAAGGCA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55583375	TTTCCTTC others(9): Show TTTCCTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG03098.hp2 others(2): Show HG02965.hp1 HG02965.hp2 HG03098.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0007 a0001c0001t0002g0072 a0001c0002t0001g0003 others(2): Show a0001c0001t0001g0007 a0001c0001t0002g0072 a0001c0002t0001g0003 a0001c0002t0001g0017 a0001c0002t0002g0016	5	74	0.0676	-16	c.40 others(35): Show c.40-72115_*40-72100delGGAAAGAAAGAAGGAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55583528	CCTTCCTT others(9): Show CCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	74	0.0135	-16	c.40 others(35): Show c.40-72268_*40-72253delAAAGGAAGGAAGGAAG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55691561	AAAAAAAA others(9): Show AAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	74	0.0135	-16	c.284 others(35): Show c.2848-7718_2848-7703delATATTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55691563	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19240.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0002t0001g0017 a0001c0001t0001g0007 a0001c0002t0001g0017	2	74	0.0270	-16	c.284 others(35): Show c.2848-7720_2848-7705delATATATTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55714667	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02738.hp2 HG03041.hp2 others(1): Show HG02486.hp1 HG02738.hp2 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0003g0051 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0003g0051 a0001c0001t0010g0045	4	74	0.0541	-16	c.271 others(37): Show c.2713-15171_2713-15156delTATATATATATATATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55720217	CTTCTTCT others(9): Show CTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	74	0.0135	-16	c.271 others(37): Show c.2712+14538_2712+14553delAGAAGAAGAAGAAGAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55733534	TCTCTCTC others(9): Show TCTCTCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	74	0.0135	-16	c.271 others(35): Show c.2712+1221_2712+1236delTGTGTGTGAGAGAGAG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55759462	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp1 HG01346.hp2 others(10): Show HG01109.hp2 HG01346.hp1 HG01346.hp2 HG02040.hp2 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03540.hp1 HG03710.hp2 HG03831.hp2 NA18962.hp1 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0002c0003t0003	a0001c0001t0001g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 others(10): Show a0001c0001t0001g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0002g0049 a0001c0001t0002g0058 a0001c0001t0003g0044 a0001c0001t0003g0070 a0001c0001t0005g0071 a0001c0001t0011g0047 a0001c0002t0001g0006 a0001c0002t0001g0017 a0002c0003t0003g0025	13	74	0.1757	-16	c.256 others(37): Show c.2565-24560_2565-24545delTTTTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55775537	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	74	0.0135	-16	c.256 others(37): Show c.2565-40635_2565-40620delATTTATTTATTTATTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55952165	ACACACAC others(9): Show ACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0065 a0004c0005t0003g0065	1	74	0.0135	-16	c.226 others(35): Show c.2268-1621_2268-1606delAGTGTGTGTGTGTGTG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55955248	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	74	0.0135	-16	c.226 others(35): Show c.2268-4704_2268-4689delCACACACACACACACA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55997894	TTTTTTTT others(9): Show TTTTTTTTTTTTTTGTG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	74	0.0135	-16	c.206 others(35): Show c.2062-5660_2062-5645delCACAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	10/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56033030	CAGAAAGA others(9): Show CAGAAAGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01169.hp2 HG01071.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0003g0069 a0001c0001t0001g0048 a0001c0001t0003g0069	2	74	0.0270	-16	c.164 others(37): Show c.1642-14015_1642-14000delTTCTTTCTTTCTTTCT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56083727	GGGTGATG others(9): Show GGGTGATGAGGTATTGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	74	0.0135	-16	c.147 others(35): Show c.1474-2759_1474-2744delTCAATACCTCATCACC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56134914	TTTTTTGT others(9): Show TTTTTTGTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02486.hp2 HG01167.hp2 HG01169.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0002t0004g0001 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0002t0004g0001	3	74	0.0405	-16	c.147 others(35): Show c.1473+4579_1473+4594delCAAAAAAAAACAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56299123	TTTTTTTT others(9): Show TTTTTTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01071.hp2 others(5): Show HG00741.hp2 HG01069.hp2 HG01071.hp2 HG02040.hp2 HG02965.hp1 HG03831.hp1 HG06807.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0061 a0001c0001t0002g0005 a0001c0001t0002g0032 others(5): Show a0001c0001t0001g0061 a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0002g0072 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0005g0053 a0001c0001t0009g0073	8	74	0.1081	-16	c.658 others(33): Show c.658-2704_658-2689delCAAACAAACAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56348891	GGAAGGAA others(9): Show GGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp2 HG01934.hp2 others(5): Show HG01099.hp1 HG01346.hp2 HG01934.hp2 HG02738.hp2 HG03098.hp1 HG03130.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0003t0003	a0001c0001t0002g0008 a0001c0001t0002g0036 a0001c0001t0002g0054 others(5): Show a0001c0001t0002g0008 a0001c0001t0002g0036 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0003g0051 a0001c0001t0003g0070 a0001c0001t0007g0024 a0002c0003t0003g0056	8	74	0.1081	-16	c.658 others(35): Show c.658-52472_658-52457delTTTCCTTCCTTCCTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC3_chr2_127252290_127299144	127272007	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG02559.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	350	0.0057	-16	c.182 others(33): Show c.1828-570_1828-555delAAAAAAAAAAAAAAAA	ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding	11/14			chr2	TogoVar
ERCC3_chr2_127252290_127299144	127295967	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0224 a0001c0005t0001g0224	1	350	0.0029	-16	c.-19 others(27): Show c.-1902_-1887delTTTTTTTTTTTTTTTT	ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding		1824		chr2	TogoVar
ERCC6_chr10_49449470_49544121	49526115	TTTTATAT others(9): Show TTTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0001 a0018c0024t0001	a0018c0024t0001g0322 a0018c0024t0001g0322	1	388	0.0026	-16	c.653 others(33): Show c.653-1354_653-1339delTATATATATATATAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526101	ATATATTT others(9): Show ATATATTTATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	402	0.0025	-16	c.653 others(33): Show c.653-1340_653-1325delAAAATATATAAATATA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526115	TTTTATAT others(9): Show TTTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0202 a0002c0003t0001g0202	1	402	0.0025	-16	c.653 others(33): Show c.653-1354_653-1339delTATATATATATATAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC8_chr5_60861454_60950070	60904628	GTGTGTGT others(9): Show GTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp2 HG03139.hp2 others(4): Show HG02809.hp1 HG03098.hp2 HG03139.hp2 HG03579.hp2 HG04184.hp2 HG04204.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0022 a0001c0001t0023 others(3): Show a0001c0001t0007 a0001c0001t0022 a0001c0001t0023 a0001c0001t0036 a0001c0001t0064 a0001c0001t0084	a0001c0001t0007g0018 a0001c0001t0022g0286 a0001c0001t0022g0290 others(4): Show a0001c0001t0007g0018 a0001c0001t0022g0286 a0001c0001t0022g0290 a0001c0001t0023g0289 a0001c0001t0036g0156 a0001c0001t0064g0130 a0001c0001t0084g0287	7	302	0.0232	-16	c.481 others(31): Show c.481+148_481+163delTATATATATACACACA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60904634	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01168.hp2 others(10): Show HG00642.hp2 HG00738.hp1 HG01168.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp1 HG01952.hp2 HG02145.hp2 HG02257.hp1 HG02683.hp2 HG03540.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0016 a0001c0002t0017 others(3): Show a0001c0002t0008 a0001c0002t0016 a0001c0002t0017 a0001c0002t0032 a0001c0002t0033 a0001c0002t0056	a0001c0002t0008g0046 a0001c0002t0008g0047 a0001c0002t0008g0065 others(10): Show a0001c0002t0008g0046 a0001c0002t0008g0047 a0001c0002t0008g0065 a0001c0002t0008g0068 a0001c0002t0008g0073 a0001c0002t0008g0075 a0001c0002t0016g0070 a0001c0002t0017g0074 a0001c0002t0017g0078 a0001c0002t0032g0063 a0001c0002t0033g0048 a0001c0002t0033g0071 a0001c0002t0056g0077	13	302	0.0431	-16	c.481 others(31): Show c.481+142_481+157delTATATATATATATATA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938040	CATACATA others(9): Show CATACATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp2 NA19030.hp2 others(1): Show HG02886.hp2 HG02922.hp2 NA19030.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0077	a0001c0001t0001g0109 a0001c0001t0007g0035 a0001c0001t0010g0026 others(1): Show a0001c0001t0001g0109 a0001c0001t0007g0035 a0001c0001t0010g0026 a0001c0001t0077g0021	4	302	0.0133	-16	c.77+ others(31): Show c.77+6876_77+6891delATATATATGTATGTAT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938044	CATACATA others(9): Show CATACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0064 a0001c0002t0016g0064	1	302	0.0033	-16	c.77+ others(31): Show c.77+6872_77+6887delATATATATATATGTAT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938074	TATATATA others(9): Show TATATATATATATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG01255.hp2 others(6): Show HG00642.hp1 HG01192.hp1 HG01255.hp2 HG02559.hp2 HG03130.hp2 HG03831.hp1 HG04184.hp1 HG04228.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0006 a0001c0002t0032 others(3): Show a0001c0001t0018 a0001c0002t0006 a0001c0002t0032 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054	a0001c0001t0018g0066 a0001c0002t0006g0056 a0001c0002t0006g0057 others(6): Show a0001c0001t0018g0066 a0001c0002t0006g0056 a0001c0002t0006g0057 a0001c0002t0006g0058 a0001c0002t0006g0059 a0001c0002t0032g0067 a0001c0002t0052g0022 a0001c0002t0053g0055 a0001c0002t0054g0044	9	302	0.0298	-16	c.77+ others(31): Show c.77+6842_77+6857delTAAAATATATATATAT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938075	ATATATAT others(9): Show ATATATATATATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0054 a0001c0001t0076g0054	1	302	0.0033	-16	c.77+ others(31): Show c.77+6841_77+6856delATAAAATATATATATA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60947689	CTGGGAGG others(9): Show CTGGGAGGCGGATGTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	302	0.0033	-16	c.-26 others(27): Show c.-2697_-2682delCAACATCCGCCTCCCA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding		2620		chr5	TogoVar

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