JoGo: Joint Open Genome and Omics Platform

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	1093981	A A	ATTTTTCT others(23): Show ATTTTTCTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0150 a0001c0001t0040g0150	1	162	0.0062	30	c.108 others(51): Show c.1086+10402_1086+10403insTTTTCTATATATATATATATATAT ATATTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121937	A A	ATCTCTAT others(23): Show ATCTCTATCTCTATCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0022 a0001c0001t0012g0022	1	162	0.0062	30	c.156 others(49): Show c.1569+5907_1569+5908insCTATCTCTATCTATCTCTATCTCTAT CTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122133	A A	ATCTCTAT others(23): Show ATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0046 a0001c0001t0087g0046	1	162	0.0062	30	c.156 others(49): Show c.1569+6127_1569+6128insGTGTCTCTATCTCTATCTCTATCTCT ATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122175	A A	ATCTCTAT others(23): Show ATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 HG02896.hp1 others(1): Show HG02055.hp2 HG02886.hp2 HG02896.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 others(1): Show a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091	4	162	0.0247	30	c.156 others(49): Show c.1569+6170_1569+6199dupGTGTCTCTATCTCTATCTCTATCTCT ATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122307	G G	GTCTCTAT others(23): Show GTCTCTATCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0030 a0001c0001t0126g0030	1	162	0.0062	30	c.156 others(49): Show c.1569+6278_1569+6307dupCTATCTCTATCTCTATCTCTATCTCT ATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1154213	G G	GTATGTAT others(23): Show GTATGTATATGTATATGTATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG02735.hp1 others(1): Show HG00738.hp2 HG01346.hp1 HG02735.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0040 a0001c0001t0068 others(1): Show a0001c0001t0014 a0001c0001t0040 a0001c0001t0068 a0001c0001t0112	a0001c0001t0014g0036 a0001c0001t0040g0150 a0001c0001t0068g0083 others(1): Show a0001c0001t0014g0036 a0001c0001t0040g0150 a0001c0001t0068g0083 a0001c0001t0112g0052	4	162	0.0247	30	c.173 others(51): Show c.1737+12444_1737+12473dupATATGTATATGTATATGTATATGT ATATGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196838	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02155.hp2 HG01109.hp2 HG02155.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0030 a0002c0002t0026 a0001c0001t0030 a0002c0002t0026	a0001c0001t0030g0109 a0002c0002t0026g0115 a0001c0001t0030g0109 a0002c0002t0026g0115	2	162	0.0124	30	c.235 others(49): Show c.2351+6791_2351+6792insCTCTCTCTCTCTCTCTCTCTGTCTGT CTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1438954	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0128 a0002c0002t0128	a0002c0002t0128g0054 a0002c0002t0128g0054	1	162	0.0062	30	c.302 others(49): Show c.3025-5607_3025-5606insAAAAAAAATATATATATATATATATA TATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493546	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0113 a0001c0001t0020g0113	1	162	0.0062	30	c.33 others(41): Show c.3317_*3318insTATATATATATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3318	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	56126807	G G	GAAGGAAA others(23): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02809.hp1 HG02965.hp1 others(1): Show HG01071.hp2 HG02809.hp1 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0072 a0001c0001t0003g0044 a0001c0001t0003g0069 others(1): Show a0001c0001t0002g0072 a0001c0001t0003g0044 a0001c0001t0003g0069 a0001c0001t0004g0020	4	74	0.0541	30	c.147 others(51): Show c.1473+12672_1473+12701dupTCCTTTCCTTTCCTTTCCTTTCCT TTCCTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56204476	C C	CTTTTATT others(23): Show CTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG06807.hp1 HG02647.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0013 a0001c0001t0009 a0001c0002t0013	a0001c0001t0009g0073 a0001c0002t0013g0074 a0001c0001t0009g0073 a0001c0002t0013g0074	2	74	0.0270	30	c.107 others(51): Show c.1075-30986_1075-30957dupTAAAATAAAATAAAATAAAATAAA ATAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45346834	C C	CCAGACCC others(23): Show CCAGACCCTCCTTAGAATCCCACAGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0007 a0010c0022t0007	a0010c0022t0007g0056 a0010c0022t0007g0056	1	412	0.0024	30	c.47 others(41): Show c.4794_*4795insTGGGGACTGTGGGATTCTAAGGAGGGTCTG	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		3002		chr19	TogoVar
ERCC2_chr19_45344837_45375573	45375534	A A	ATATTTTA others(23): Show ATATTTTATTTTATTTTATTTTATTTTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG01934.hp2 others(4): Show HG01099.hp2 HG01243.hp2 HG01934.hp2 HG02895.hp2 HG03471.hp2 HG03516.hp1 HG03831.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0008 a0001c0001 a0002c0003 a0003c0008	a0001c0001t0001 a0002c0003t0005 a0003c0008t0003 a0001c0001t0001 a0002c0003t0005 a0003c0008t0003	a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0165 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0165 a0001c0001t0001g0169 a0002c0003t0005g0085 a0003c0008t0003g0123	7	412	0.0170	30	c.-49 others(41): Show c.-4995_-4994insAAATAAAATAAAATAAAATAAAATAAAATA	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		4962		chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	95907832	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0038 a0004c0004t0096 a0004c0004t0038 a0004c0004t0096	a0004c0004t0038g0010 a0004c0004t0096g0010 a0004c0004t0038g0010 a0004c0004t0096g0010	2	392	0.0051	30	c.788 others(45): Show c.788+585_788+586insACACAAACACACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907834	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01192.hp1 others(18): Show HG01070.hp1 HG01099.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03453.hp1 NA18948.hp1 NA18987.hp2 NA19011.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0018	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0007c0008 a0018c0019	a0001c0001t0001 a0002c0002t0003 a0002c0002t0006 others(7): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0029 a0002c0002t0030 a0003c0003t0008 a0003c0003t0016 a0007c0008t0023 a0007c0008t0066 a0018c0019t0016	a0001c0001t0001g0031 a0002c0002t0003g0255 a0002c0002t0003g0342 others(18): Show a0001c0001t0001g0031 a0002c0002t0003g0255 a0002c0002t0003g0342 a0002c0002t0003g0349 a0002c0002t0003g0350 a0002c0002t0003g0353 a0002c0002t0003g0354 a0002c0002t0003g0356 a0002c0002t0003g0358 a0002c0002t0003g0360 a0002c0002t0006g0305 a0002c0002t0006g0306 a0002c0002t0006g0343 a0002c0002t0029g0362 a0002c0002t0030g0361 a0003c0003t0008g0269 a0003c0003t0016g0267 a0007c0008t0023g0293 a0007c0008t0023g0295 a0007c0008t0066g0296 a0018c0019t0016g0326	21	392	0.0536	30	c.788 others(45): Show c.788+585_788+586insACACACAAACACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907836	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(40): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01346.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG04115.hp2 HG04228.hp1 NA18939.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18979.hp2 NA18981.hp1 NA18988.hp2 NA19058.hp1 NA19060.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0023	a0001c0001 a0002c0002 a0014c0016 others(1): Show a0001c0001 a0002c0002 a0014c0016 a0023c0025	a0001c0001t0001 a0001c0001t0014 a0001c0001t0025 others(8): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0036 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0002c0002t0006 a0014c0016t0001 a0023c0025t0084	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0025 others(37): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0014g0039 a0001c0001t0025g0058 a0001c0001t0026g0002 a0001c0001t0036g0037 a0001c0001t0036g0054 a0001c0001t0083g0067 a0001c0001t0085g0064 a0001c0001t0086g0072 a0002c0002t0006g0339 a0014c0016t0001g0084 a0023c0025t0084g0035	43	392	0.1097	30	c.788 others(45): Show c.788+585_788+586insACACACACAAACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907838	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0064 a0001c0005t0064	a0001c0005t0064g0251 a0001c0005t0064g0251	1	392	0.0026	30	c.788 others(45): Show c.788+585_788+586insACACACACACAAACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(23): Show ATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	334	0.0030	30	c.83- others(45): Show c.83-3096_83-3095insATATATATATATATATGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(23): Show ATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18963.hp1 HG01981.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0284 a0001c0001t0001g0119 a0001c0001t0001g0284	2	334	0.0060	30	c.83- others(45): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATGT others(23): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	334	0.0030	30	c.83- others(45): Show c.83-3096_83-3095insATATGTGTGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATGTGT others(23): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	334	0.0030	30	c.83- others(45): Show c.83-3096_83-3095insATGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893939	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00673.hp1 others(13): Show HG00544.hp2 HG00597.hp1 HG00673.hp1 HG01074.hp2 HG02027.hp1 HG02155.hp2 HG02293.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18979.hp1 NA19007.hp1 NA19065.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0050 others(13): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0002g0042 a0001c0001t0002g0190	16	334	0.0479	30	c.83- others(45): Show c.83-3048_83-3047insATATATATATATATGTATATATATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERG_chr21_38375036_38503477	38407634	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	360	0.0028	30	c.389 others(47): Show c.389-3926_389-3925insTATATATATATATATATATATATATATA TA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERICH5_chr8_98059568_98098609	98075785	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	442	0.0023	30	c.58+ others(47): Show c.58+11077_58+11078insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091990	C C	CCTTCCTT others(23): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0394 a0001c0001t0002g0394	1	442	0.0023	30	c.101 others(49): Show c.1013-1231_1013-1230insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01243.hp1 HG01346.hp1 others(21): Show HG00609.hp1 HG01243.hp1 HG01346.hp1 HG01891.hp1 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02615.hp1 HG02698.hp2 HG02723.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG04204.hp2 NA18612.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA19012.hp2 NA19068.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0027 a0032	a0001c0002 a0001c0003 a0002c0001 others(5): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0003c0006 a0004c0005 a0027c0031 a0032c0020	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(7): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0003c0004t0001 a0003c0004t0002 a0003c0006t0002 a0004c0005t0002 a0027c0031t0002 a0032c0020t0001	a0001c0002t0001g0012 a0001c0002t0001g0266 a0001c0002t0001g0290 others(20): Show a0001c0002t0001g0012 a0001c0002t0001g0266 a0001c0002t0001g0290 a0001c0003t0001g0140 a0001c0003t0001g0155 a0002c0001t0001g0047 a0002c0001t0001g0078 a0002c0001t0001g0081 a0002c0001t0001g0101 a0002c0001t0001g0128 a0002c0001t0002g0036 a0003c0004t0001g0166 a0003c0004t0001g0171 a0003c0004t0001g0201 a0003c0004t0001g0202 a0003c0004t0002g0182 a0003c0004t0002g0192 a0003c0006t0002g0259 a0004c0005t0002g0068 a0004c0005t0002g0103 a0004c0005t0002g0112 a0027c0031t0002g0173 a0032c0020t0001g0015	24	348	0.0690	30	c.134 others(49): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT ATAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERICH6_chr3_150654885_150708920	150702920	G G	GTCTGTGA others(23): Show GTCTGTGAGAGAGAGAGAGAGGGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA20905.hp1 NA18990.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0242 a0001c0002t0001g0243	2	348	0.0058	30	c.403 others(45): Show c.403+575_403+576insTTCTCTCTCCCTCTCTCTCTCTCTCACAGA	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	1/13			chr3	TogoVar
ERMN_chr2_157313631_157330824	157328674	G G	GTGCTCAA others(23): Show GTGCTCAACGAGTCTCTGGGGGGCTCGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	368	0.0027	30	c.-30 others(41): Show c.-3033_-3032insAGCTCGAGCCCCCCAGAGACTCGTTGAGCA	ERMN	ENSG00000136541.15	transcript	ENST00000410096.6	protein_coding		2851		chr2	TogoVar
ERO1B_chr1_236210101_236286958	236239801	A A	ATATATAT others(23): Show ATATATATATATGTGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	396	0.0025	30	c.506 others(47): Show c.506-3404_506-3403insCACATATATATATACACACATATATATA TA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245482	G G	GTATATAT others(23): Show GTATATATATACACACGTATATATATACGTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0014 a0003c0005t0014	a0003c0005t0014g0283 a0003c0005t0014g0283	1	396	0.0025	30	c.432 others(47): Show c.432-1988_432-1987insTACGTATATATATACGTGTGTATATATA TA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	220	0.0046	30	c.58- others(45): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESCO1_chr18_21524284_21605704	21593597	T T	TAGGGAGA others(23): Show TAGGGAGAGGGAGAGGGAGAGGGAGACGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03579.hp1 HG06807.hp2 HG01884.hp2 HG03579.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0196	3	310	0.0097	30	c.-82 others(49): Show c.-825+7025_-825+7026insCTCCGTCTCCCTCTCCCTCTCCCTCT CCCT	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11			chr18	TogoVar
ESCO1_chr18_21524284_21605704	21593597	T T	TAGGGAGA others(23): Show TAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG02615.hp1 others(8): Show HG00738.hp2 HG01070.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0001g0070 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0003t0002g0180 a0001c0003t0002g0190	11	310	0.0355	30	c.-82 others(49): Show c.-825+6996_-825+7025dupCTCCCTCTCCCTCTCCCTCTCCCTCT CCCT	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11			chr18	TogoVar
ESCO1_chr18_21524284_21605704	21593599	G G	GGGAGAGG others(23): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(89): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG03486.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18946.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp1 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19076.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0008	a0002c0002 a0002c0009 a0002c0012 others(3): Show a0002c0002 a0002c0009 a0002c0012 a0004c0007 a0006c0011 a0008c0008	a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 others(6): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 a0002c0002t0015 a0002c0009t0001 a0002c0012t0001 a0004c0007t0001 a0006c0011t0001 a0008c0008t0001	a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 others(86): Show a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0010g0298 a0002c0002t0011g0268 a0002c0002t0015g0269 a0002c0009t0001g0285 a0002c0012t0001g0220 a0004c0007t0001g0223 a0004c0007t0001g0224 a0006c0011t0001g0254 a0008c0008t0001g0225	92	310	0.2968	30	c.-82 others(49): Show c.-825+7023_-825+7024insGTCTCCCTCTCCCTCTCCCTCTCCCT CTCC	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11			chr18	TogoVar
ESF1_chr20_13709325_13789919	13716804	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	390	0.0026	30	c.226 others(47): Show c.2262+534_2262+563dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13			chr20	TogoVar
ESPNL_chr2_238095340_238138287	238110967	T T	TTTTTTTG others(23): Show TTTTTTTGAGACGGAGTCTCACTCTGTCGCC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0006 a0003c0009t0006	a0003c0009t0006g0062 a0003c0009t0006g0062	1	408	0.0025	30	c.855 others(47): Show c.855+2997_855+2998insTTTGAGACGGAGTCTCACTCTGTCGCCT TT	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESR1_chr6_151802682_152108274	151849990	A A	ATATATAT others(23): Show ATATATATAATTTTGTATATATATACAAAAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18989.hp1 NA19079.hp2 NA18957.hp1 NA18989.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0082 a0001c0001t0002g0121 a0001c0002t0001g0203 a0001c0001t0001g0082 a0001c0001t0002g0121 a0001c0002t0001g0203	3	250	0.0120	30	c.643 others(47): Show c.643+7211_643+7212insATTTTGTATATATATACAAAATTATATA TA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	151958973	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19030.hp1 NA18954.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0042 a0001c0001t0009g0179 a0001c0001t0002g0042 a0001c0001t0009g0179	2	250	0.0080	30	c.109 others(51): Show c.1096+14486_1096+14487insTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94668789	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02145.hp1 HG02486.hp2 others(10): Show HG00741.hp1 HG02145.hp1 HG02486.hp2 HG02523.hp2 HG02723.hp2 HG02965.hp2 HG02970.hp2 HG03516.hp1 NA18943.hp1 NA18957.hp1 NA19065.hp1 NA19079.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(10): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0320 a0001c0001t0004g0271 a0001c0001t0011g0136 a0001c0003t0001g0318 a0001c0009t0001g0150	13	374	0.0348	30	c.123 others(47): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682904	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	374	0.0027	30	c.182 others(49): Show c.1820+4562_1820+4563insATATATATATATATATATATATATAT ATAT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRG_chr1_216498251_216728429	216511547	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03654.hp2 HG02896.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0106 a0001c0002t0002g0038 a0001c0002t0002g0106	2	286	0.0070	30	c.113 others(49): Show c.1133-4365_1133-4364insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(23): Show GGGAAGGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02451.hp2 HG02717.hp1 others(3): Show HG00323.hp2 HG02451.hp2 HG02717.hp1 HG02922.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0005 a0001c0002t0002 a0001c0002t0006 others(2): Show a0001c0001t0005 a0001c0002t0002 a0001c0002t0006 a0001c0003t0002 a0001c0005t0022	a0001c0001t0005g0043 a0001c0002t0002g0074 a0001c0002t0002g0120 others(3): Show a0001c0001t0005g0043 a0001c0002t0002g0074 a0001c0002t0002g0120 a0001c0002t0006g0251 a0001c0003t0002g0044 a0001c0005t0022g0004	6	286	0.0210	30	c.590 others(47): Show c.590-1093_590-1092insTTTCCTTTCCTTTCCTTTCCTTTCCCTT CC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESS2_chr22_19125279_19149651	19128634	A A	AAGGGGAG others(23): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0053 a0001c0005t0007g0053	1	432	0.0023	30	c.55 others(41): Show c.5561_*5562insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	ESS2	ENSG00000100056.12	transcript	ENST00000252137.11	protein_coding		1644		chr22	TogoVar
ESYT2_chr7_158725997_158834509	158729512	G G	GTGGAAGA others(23): Show GTGGAAGAGGGGCAAGTGAGGATGTGCTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02818.hp2 others(5): Show HG02257.hp1 HG02258.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03540.hp2 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0027 a0003c0003 a0001c0001 a0002c0027 a0003c0003	a0001c0001t0014 a0001c0001t0017 a0001c0001t0025 others(2): Show a0001c0001t0014 a0001c0001t0017 a0001c0001t0025 a0002c0027t0044 a0003c0003t0007	a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 others(5): Show a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 a0001c0001t0017g0193 a0001c0001t0025g0185 a0002c0027t0044g0194 a0003c0003t0007g0325 a0003c0003t0007g0329	8	370	0.0216	30	c.46 others(41): Show c.4694_*4695insGCCAGCACATCCTCACTTGCCCCTCTTCCA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1484		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729617	G G	GCTGGGGG others(23): Show GCTGGGGGGGAGGAGCAAGTGTGGAGGTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0015 a0003c0003t0004g0015	1	370	0.0027	30	c.45 others(41): Show c.4589_*4590insAGCACCTCCACACTTGCTCCTCCCCCCCAG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1379		chr7	TogoVar
ETF1_chr5_138501095_138548236	138510357	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02886.hp1 HG01099.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0022 a0001c0001t0001g0024	2	334	0.0060	30	c.108 others(47): Show c.1083+178_1083+207dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	9/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	334	0.0030	30	c.732 others(45): Show c.732+538_732+539insATATATATATATATATATATATATTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76272813	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02055.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0242 a0001c0001t0004g0245 a0001c0001t0004g0246 others(1): Show a0001c0001t0004g0242 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0009g0239	4	336	0.0119	30	c.816 others(47): Show c.816+1598_816+1599insATATATATATATATATATATATATATAT AT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	9/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18965.hp2 HG01123.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0190 a0001c0001t0002g0147 a0001c0001t0002g0190	2	336	0.0060	30	c.40- others(43): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 NA19240.hp1 HG01978.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0201 a0001c0001t0002g0181 a0001c0001t0002g0201	2	336	0.0060	30	c.-54 others(39): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar

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