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
ERBIN_chr5_65921575_66087546	66051907	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0161 a0001c0007t0010g0161	1	306	0.0033	19	c.208 others(36): Show c.2087+942_2087+943insAAAAAAAAAAAAAAAAAGA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	20/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1146308	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp2 HG03139.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0016g0098 a0002c0002t0016g0101	2	162	0.0124	19	c.173 others(38): Show c.1737+4528_1737+4546dupTTTTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1341069	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0084 a0001c0001t0043g0084	1	162	0.0062	19	c.278 others(40): Show c.2781-30740_2781-30722dupTTTTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1460958	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG03209.hp1 HG00639.hp2 HG01106.hp2 HG03209.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0104 a0002c0002t0105 a0005c0010t0082 a0002c0002t0104 a0002c0002t0105 a0005c0010t0082	a0002c0002t0104g0043 a0002c0002t0105g0148 a0005c0010t0082g0126 a0002c0002t0104g0043 a0002c0002t0105g0148 a0005c0010t0082g0126	3	162	0.0185	19	c.321 others(40): Show c.3213+16213_3213+16231dupTTTTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493544	A A	ATATATAT others(12): Show ATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 NA18966.hp2 HG02895.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0034 a0002c0002t0066 a0001c0001t0034 a0002c0002t0066	a0001c0001t0034g0161 a0002c0002t0066g0139 a0001c0001t0034g0161 a0002c0002t0066g0139	2	162	0.0124	19	c.33 others(30): Show c.3314_*3315insTATATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3315		chr12	TogoVar
ERC1_chr12_986223_1500931	1493546	A A	ATATATAT others(12): Show ATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG03139.hp1 NA20752.hp2 HG00741.hp1 HG03139.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0045 a0001c0001t0090 a0002c0002t0018 a0001c0001t0045 a0001c0001t0090 a0002c0002t0018	a0001c0001t0045g0066 a0001c0001t0090g0032 a0002c0002t0018g0117 a0001c0001t0045g0066 a0001c0001t0090g0032 a0002c0002t0018g0117	3	162	0.0185	19	c.33 others(30): Show c.3316_*3317insTATATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3317		chr12	TogoVar
ERC2_chr3_55503311_56473467	55539415	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	74	0.0135	19	c.40 others(38): Show c.40-28158_*40-28140dupAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55553011	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02922.hp1 others(1): Show HG02145.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0004t0001 a0001c0001t0002 a0001c0001t0005 a0001c0004t0001	a0001c0001t0002g0011 a0001c0001t0002g0066 a0001c0001t0005g0063 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0066 a0001c0001t0005g0063 a0001c0004t0001g0031	4	74	0.0541	19	c.40 others(38): Show c.40-41754_*40-41736dupAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	420	0.0024	19	c.844 others(34): Show c.844-841_844-840insCACACACACACACACACAC	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	96022771	G G	GAGTTTCT others(12): Show GAGTTTCTGGAGATGGGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	392	0.0026	19	c.95 others(30): Show c.9568_*9569insAGTTTCTGGAGATGGGCAA	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding		4325		chr9	TogoVar
ERFL_chr19_41902704_41933449	41914611	T T	TCCCCCTC others(12): Show TCCCCCTCCACCGTGTCTCC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	330	0.0030	19	c.-13 others(36): Show c.-13-1680_-13-1679insGGAGACACGGTGGAGGGGG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172892060	A A	ATTTTTGT others(12): Show ATTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18988.hp2 HG01257.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0051 a0001c0001t0002g0141 a0001c0001t0001g0051 a0001c0001t0002g0141	2	334	0.0060	19	c.82+ others(34): Show c.82+3301_82+3302insTTTTGTTTTGTTTTGTTTT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172892060	A A	ATTTTTTT others(12): Show ATTTTTTTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00597.hp1 others(46): Show HG00323.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01358.hp1 HG01361.hp1 HG01943.hp2 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02155.hp2 HG02293.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03927.hp2 HG03942.hp1 NA18612.hp2 NA18942.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18995.hp1 NA18998.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19065.hp1 NA19066.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0019	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 others(46): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0305 a0001c0001t0002g0042 a0001c0001t0002g0102 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0004g0165 a0001c0001t0008g0149 a0001c0001t0008g0186 a0001c0001t0008g0231 a0001c0001t0019g0068	49	334	0.1467	19	c.82+ others(34): Show c.82+3301_82+3302insTTTTTTTTTGTTTTGTTTT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172909168	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	334	0.0030	19	c.156 others(34): Show c.156-481_156-480insTTTTTTTTTTTTTTTTTTT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC3_chr20_35537078_35562634	35539353	T T	TAATATAT others(12): Show TAATATATGTTTATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0224 a0001c0003t0001g0224	1	364	0.0028	19	c.-27 others(30): Show c.-2745_-2744insAATATATGTTTATATATAA	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2724		chr20	TogoVar
ERGIC3_chr20_35537078_35562634	35553020	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	364	0.0028	19	c.686 others(36): Show c.686-2014_686-1996dupTTTTTTTTTTTTTTTTTTT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ERG_chr21_38375036_38503477	38406154	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	360	0.0028	19	c.389 others(36): Show c.389-2464_389-2446dupTTTTTTTTTTTTTTTTTTT	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERG_chr21_38375036_38503477	38437288	A A	ACTTCGAC others(12): Show ACTTCGACACTAGTGCCACT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	360	0.0028	19	c.236 others(36): Show c.236+8097_236+8115dupAGTGGCACTAGTGTCGAAG	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	2/9			chr21	TogoVar
ERI3_chr1_44216070_44360257	44259724	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18975.hp1 HG01261.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0104 a0001c0001t0001g0111	2	340	0.0059	19	c.832 others(38): Show c.832-11687_832-11686insGTGTGTGTGTGTGTGTGTG	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0192 a0001c0001t0005g0192	1	340	0.0029	19	c.212 others(36): Show c.212-3537_212-3536insTATATATATATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(12): Show GTTTTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	378	0.0027	19	c.169 others(36): Show c.169+7179_169+7180insAAAAAAAAAAAACAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98070660	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	442	0.0023	19	c.58+ others(34): Show c.58+5937_58+5955dupAAAAAAAAAAAAAAAAAAA	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTC others(12): Show CTTTCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	442	0.0023	19	c.101 others(38): Show c.1013-1321_1013-1320insTTTCTTCCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	442	0.0023	19	c.101 others(38): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45606299	T T	TATAACAG others(12): Show TATAACAGATGTCATATTTA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	326	0.0031	19	c.-59 others(36): Show c.-59+1246_-59+1264dupTAAATATGACATCTGTTAT	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERMAP_chr1_42812122_42849991	42817060	G G	GCCCGGCC others(12): Show GCCCGGCCCCCCGACCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG02976.hp1 others(2): Show HG02559.hp2 HG02809.hp1 HG02976.hp1 HG03195.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0031 a0001c0003t0006g0032 a0001c0003t0006g0104 a0001c0003t0006g0031 a0001c0003t0006g0032 a0001c0003t0006g0104	5	386	0.0130	19	c.-31 others(28): Show c.-315_-314insCCCGGCCCCCCGACCCCGC	ERMAP	ENSG00000164010.15	transcript	ENST00000372517.8	protein_coding		61		chr1	TogoVar
ERMAP_chr1_42812122_42849991	42847071	A A	ACACTTCT others(12): Show ACACTTCTGGCAGCCTTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02647.hp2 HG00639.hp2 HG02647.hp2	a0005 a0013 a0005 a0013	a0005c0007 a0013c0018 a0005c0007 a0013c0018	a0005c0007t0011 a0013c0018t0005 a0005c0007t0011 a0013c0018t0005	a0005c0007t0011g0209 a0013c0018t0005g0201 a0005c0007t0011g0209 a0013c0018t0005g0201	2	386	0.0052	19	c.38 others(30): Show c.3839_*3840insCACTTCTGGCAGCCTTTGC	ERMAP	ENSG00000164010.15	transcript	ENST00000372517.8	protein_coding		2081		chr1	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	220	0.0046	19	c.58- others(34): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERRFI1_chr1_8006727_8031309	8007498	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	402	0.0025	19	c.57 others(30): Show c.5711_*5712insTATATATATATATATATAT	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4228		chr1	TogoVar
ERVV-2_chr19_53039740_53056680	53044536	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(31): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01255.hp2 HG01346.hp2 HG01515.hp1 HG01975.hp2 HG02074.hp1 HG02451.hp1 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp1 NA18942.hp1 NA18944.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18977.hp1 NA18992.hp2 NA19011.hp1 NA19074.hp1 NA19083.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0009 a0001c0002 a0001c0005 a0001c0009	a0001c0002t0001 a0001c0002t0007 a0001c0002t0021 others(5): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0021 a0001c0002t0049 a0001c0002t0053 a0001c0005t0001 a0001c0005t0007 a0001c0009t0056	a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0015 others(8): Show a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0015 a0001c0002t0001g0023 a0001c0002t0007g0001 a0001c0002t0021g0001 a0001c0002t0049g0008 a0001c0002t0053g0038 a0001c0005t0001g0001 a0001c0005t0007g0012 a0001c0009t0056g0001	34	446	0.0762	19	c.-80 others(28): Show c.-808_-807insAAAAAAAAAAAAAAAAAAA	ERVV-2	ENSG00000268964.3	transcript	ENST00000601417.3	protein_coding		203		chr19	TogoVar
ERVV-2_chr19_53039740_53056680	53051136	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 NA19240.hp2 NA20129.hp2 HG02055.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	3	446	0.0067	19	c.28 others(28): Show c.287_*305dupTTTTTTTTTTTTTTTTTTT	ERVV-2	ENSG00000268964.3	transcript	ENST00000601417.3	protein_coding	2/2	306	INFO_REALIGN_3_PRIME	chr19	TogoVar
ESF1_chr20_13709325_13789919	13716804	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03491.hp2 NA18974.hp2 HG00735.hp2 HG03491.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0300 a0001c0001t0001g0313 a0001c0002t0001g0194 a0001c0001t0001g0300 a0001c0001t0001g0313 a0001c0002t0001g0194	3	390	0.0077	19	c.226 others(36): Show c.2262+545_2262+563dupAAAAAAAAAAAAAAAAAAA	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13			chr20	TogoVar
ESR1_chr6_151802682_152108274	151849991	T T	TAATTTTA others(12): Show TAATTTTATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02647.hp2 others(4): Show HG02486.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0027 a0001c0004t0001 a0001c0008t0001	a0001c0001t0001g0164 a0001c0001t0004g0161 a0001c0001t0013g0160 others(4): Show a0001c0001t0001g0164 a0001c0001t0004g0161 a0001c0001t0013g0160 a0001c0001t0027g0162 a0001c0004t0001g0157 a0001c0004t0001g0163 a0001c0008t0001g0158	7	250	0.0280	19	c.643 others(36): Show c.643+7205_643+7206insATTTTATATATATATAAAA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02809.hp1 HG03130.hp2 others(2): Show HG00323.hp2 HG02809.hp1 HG03130.hp2 NA19074.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0309 a0001c0001t0001g0342 a0001c0005t0001g0181 others(2): Show a0001c0001t0001g0309 a0001c0001t0001g0342 a0001c0005t0001g0181 a0001c0005t0001g0182 a0001c0005t0001g0184	5	374	0.0134	19	c.-47 others(30): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0366	1	374	0.0027	19	c.182 others(38): Show c.1820+4562_1820+4563insATATATATATATATATTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	374	0.0027	19	c.182 others(38): Show c.1820+4562_1820+4563insATATATATATATATTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	374	0.0027	19	c.182 others(38): Show c.1820+4562_1820+4563insATATATATATATTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682933	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18974.hp1 NA18906.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0361 a0001c0001t0001g0010 a0001c0001t0001g0361	2	374	0.0054	19	c.182 others(38): Show c.1820+4562_1820+4563insATATATATATATATATATA	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15			chr8	TogoVar
ESRP1_chr8_94636174_94712466	94689811	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp2 HG03195.hp2 others(1): Show HG01099.hp1 HG02145.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0180 a0001c0001t0001g0256 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0180 a0001c0001t0001g0256 a0001c0001t0001g0315	4	374	0.0107	19	c.182 others(38): Show c.1821-2859_1821-2841dupTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76414162	T T	TCTCCCGC others(12): Show TCTCCCGCCCCTGCACCGTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	318	0.0031	19	c.51- others(36): Show c.51-25178_51-25177insTCCCGCCCCTGCACCGTCC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76450581	T T	TGGCACAG others(12): Show TGGCACAGTGCTTCCTCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03654.hp1 NA20805.hp2 HG00099.hp2 HG03654.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0030g0284 a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0030g0284	3	318	0.0094	19	c.460 others(38): Show c.460+10848_460+10849insCGGGCACAGTGCTTCCTCC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76463445	G G	GTTTTTTT others(12): Show GTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01433.hp2 HG01884.hp1 others(11): Show HG01358.hp1 HG01433.hp2 HG01884.hp1 HG01978.hp2 HG02809.hp2 HG02886.hp1 HG03688.hp2 HG04184.hp2 NA18953.hp1 NA18954.hp1 NA19066.hp1 NA19087.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0005c0013t0002	a0001c0001t0001g0046 a0001c0001t0001g0124 a0001c0001t0001g0166 others(11): Show a0001c0001t0001g0046 a0001c0001t0001g0124 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0187 a0001c0001t0001g0247 a0001c0001t0001g0314 a0001c0001t0002g0004 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0006g0202 a0001c0001t0006g0306 a0001c0001t0013g0140 a0005c0013t0002g0159	14	318	0.0440	19	c.577 others(34): Show c.577+792_577+793insGTTTTTTTTTTTTTTTTTT	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76485660	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	318	0.0031	19	c.850 others(36): Show c.850+2901_850+2902insGAGAGAGAGAGAGAGAGAG	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6			chr14	TogoVar
ESRRB_chr14_76371137_76506837	76489480	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	318	0.0031	19	c.851 others(36): Show c.851-1967_851-1966insACACACACACACACACACA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6			chr14	TogoVar
ESRRG_chr1_216498251_216728429	216569096	G G	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	286	0.0035	19	c.590 others(34): Show c.590-999_590-998insTTCCTTCCTTCCTTCCTTC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216682741	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0036 a0001c0001t0010g0036	1	286	0.0035	19	c.57- others(34): Show c.57-5251_57-5250insCACACACACACACACACAC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	1/6			chr1	TogoVar
ESS2_chr22_19125279_19149651	19136031	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0081	1	432	0.0023	19	c.103 others(36): Show c.1036-875_1036-857dupTTTTTTTTTTTTTTTTTTT	ESS2	ENSG00000100056.12	transcript	ENST00000252137.11	protein_coding	8/9			chr22	TogoVar
ESYT3_chr3_138429616_138484925	138443756	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGACT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG03516.hp2 others(2): Show HG01891.hp1 HG03195.hp1 HG03516.hp2 HG03927.hp1 NA19064.hp1	a0001 a0003 a0019 a0001 a0003 a0019	a0001c0001 a0003c0003 a0019c0012 a0001c0001 a0003c0003 a0019c0012	a0001c0001t0004 a0003c0003t0001 a0019c0012t0004 a0001c0001t0004 a0003c0003t0001 a0019c0012t0004	a0001c0001t0004g0083 a0003c0003t0001g0048 a0003c0003t0001g0084 others(2): Show a0001c0001t0004g0083 a0003c0003t0001g0048 a0003c0003t0001g0084 a0003c0003t0001g0123 a0019c0012t0004g0082	5	338	0.0148	19	c.328 others(36): Show c.328-8292_328-8291insTGTGTGTGTGTGTGTGACT	ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	1/22			chr3	TogoVar
ETF1_chr5_138501095_138548236	138501222	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	334	0.0030	19	c.70 others(30): Show c.7082_*7083insTTTTTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		4872		chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	334	0.0030	19	c.732 others(34): Show c.732+538_732+539insATATATATATATATTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar

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