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
ERBB4_chr2_211370717_212543802	212188233	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	1	56	0.0179	17	c.83- others(34): Show c.83-63331_83-63330insGGGGGAGAGAGAGAGAG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18522.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0027 a0001c0001t0010 a0001c0001t0027	a0001c0001t0010g0005 a0001c0001t0027g0055 a0001c0001t0010g0005 a0001c0001t0027g0055	2	56	0.0357	17	c.83- others(34): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212286767	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	56	0.0179	17	c.83- others(36): Show c.83-161881_83-161865dupAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65965379	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0206 a0002c0003t0003g0206	1	306	0.0033	17	c.-57 others(36): Show c.-57-23254_-57-23253insTTTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018482	A A	ATAATATA others(10): Show ATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp1 NA18522.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0150	3	306	0.0098	17	c.534 others(34): Show c.534-2838_534-2837insATATATATTATATATTA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66057908	T T	TCCATGAT others(10): Show TCCATGATGTATATGTGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp2 HG02109.hp1 others(19): Show HG01167.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0004c0005 a0004c0014 others(1): Show a0001c0007 a0004c0005 a0004c0014 a0004c0017	a0001c0007t0010 a0004c0005t0004 a0004c0005t0025 others(2): Show a0001c0007t0010 a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 a0004c0017t0004	a0001c0007t0010g0161 a0001c0007t0010g0162 a0001c0007t0010g0163 others(19): Show a0001c0007t0010g0161 a0001c0007t0010g0162 a0001c0007t0010g0163 a0001c0007t0010g0164 a0001c0007t0010g0165 a0001c0007t0010g0275 a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0013 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0019 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0027 a0004c0005t0025g0012 a0004c0014t0004g0018 a0004c0017t0004g0011	22	306	0.0719	17	c.363 others(36): Show c.3633+2958_3633+2959insCATGATGTATATGTGCC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1341069	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0007 a0001c0001t0009g0007	1	162	0.0062	17	c.278 others(38): Show c.2781-30738_2781-30722dupTTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1356212	A A	AGTGTGTG others(10): Show AGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0075 a0002c0002t0075	a0002c0002t0075g0073 a0002c0002t0075g0073	1	162	0.0062	17	c.278 others(38): Show c.2781-15621_2781-15620insGTGTGTGTGTGTGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1386651	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0150 a0001c0001t0040g0150	1	162	0.0062	17	c.292 others(38): Show c.2925+14688_2925+14689insAAAAAAAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493542	A A	AATTATAT others(10): Show AATTATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0121 a0001c0001t0067g0121	1	162	0.0062	17	c.33 others(28): Show c.3313_*3314insTTATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3314	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493546	A A	ATATATAT others(10): Show ATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0060 a0001c0001t0086g0060	1	162	0.0062	17	c.33 others(28): Show c.3316_*3317insTATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3317		chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0104 a0002c0002t0104	a0002c0002t0104g0043 a0002c0002t0104g0043	1	162	0.0062	17	c.33 others(28): Show c.3319_*3320insAAAAAAATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	ATATATAT others(10): Show ATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0094 a0001c0001t0133g0094	1	162	0.0062	17	c.33 others(28): Show c.3318_*3319insTATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3319		chr12	TogoVar
ERC2_chr3_55503311_56473467	55553011	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp2 HG03130.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0054 a0001c0001t0002g0029 a0001c0001t0002g0054	2	74	0.0270	17	c.40 others(36): Show c.40-41752_*40-41736dupAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55675903	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0060 a0003c0006t0004g0060	1	74	0.0135	17	c.39 others(34): Show c.39+7874_*39+7890dupAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55847693	G G	GAGAAAAA others(10): Show GAGAAAAAGAAAGGAAAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19030.hp1 NA19043.hp2 HG03834.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0035 a0001c0001t0002g0040 a0001c0001t0012g0023 a0001c0001t0001g0035 a0001c0001t0002g0040 a0001c0001t0012g0023	3	74	0.0405	17	c.256 others(38): Show c.2564+40695_2564+40696insATTTCCTTTCTTTTTCT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56186114	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	74	0.0135	17	c.107 others(38): Show c.1075-12611_1075-12595dupTTTTTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	420	0.0024	17	c.844 others(32): Show c.844-841_844-840insCACACACACACACACAC	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC3_chr2_127252290_127299144	127270173	A A	ACACACCA others(10): Show ACACACCACCACGCCCAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 NA19043.hp1 HG01884.hp2 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213	3	350	0.0086	17	c.194 others(36): Show c.1945+1146_1945+1162dupCTGGGCGTGGTGGTGTG	ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding	12/14			chr2	TogoVar
ERCC6L_chrX_72199665_72244027	72233721	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	286	0.0035	17	c.68+ others(32): Show c.68+5122_68+5123insTTTTTTTTTTTTTTTTT	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	1/1			chrX	TogoVar
EREG_chr4_74360145_74393749	74363493	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	358	0.0028	17	c.-18 others(28): Show c.-1816_-1815insTTTTTTTTTTTTTTTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		1651		chr4	TogoVar
ERF_chr19_42242569_42260128	42252934	G G	GGCAGGGA others(10): Show GGCAGGGAGAGAGCAGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp1 HG02717.hp1 others(3): Show HG02572.hp2 HG02622.hp1 HG02717.hp1 HG03041.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	6	268	0.0224	17	c.22+ others(32): Show c.22+2027_22+2043dupGCCTGCTCTCTCCCTGC	ERF	ENSG00000105722.10	transcript	ENST00000222329.9	protein_coding	1/3			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATTG others(10): Show ATATATTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	334	0.0030	17	c.83- others(32): Show c.83-3096_83-3095insATATTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC3_chr20_35537078_35562634	35553020	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01928.hp1 others(5): Show HG00558.hp1 HG00558.hp2 HG01928.hp1 HG01928.hp2 NA18969.hp1 NA18995.hp2 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0001g0104 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0001g0104 a0001c0001t0001g0187	8	364	0.0220	17	c.686 others(34): Show c.686-2012_686-1996dupTTTTTTTTTTTTTTTTT	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(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01978.hp1 HG01981.hp1 others(9): Show HG00438.hp2 HG01978.hp1 HG01981.hp1 HG02074.hp1 HG02148.hp1 HG03710.hp2 NA18942.hp1 NA18967.hp2 NA18997.hp2 NA19076.hp1 NA19079.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014	a0001c0001t0002g0081 a0001c0001t0002g0168 a0001c0001t0002g0225 others(9): Show a0001c0001t0002g0081 a0001c0001t0002g0168 a0001c0001t0002g0225 a0001c0001t0002g0260 a0001c0001t0002g0305 a0001c0001t0002g0317 a0001c0001t0002g0333 a0001c0001t0007g0011 a0001c0001t0007g0022 a0001c0001t0009g0154 a0001c0001t0014g0075 a0001c0001t0014g0083	12	360	0.0333	17	c.389 others(34): Show c.389-2462_389-2446dupTTTTTTTTTTTTTTTTT	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERI3_chr1_44216070_44360257	44310951	T T	TCGCGCGC others(10): Show TCGCGCGCGCGCTGCGCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	340	0.0029	17	c.666 others(34): Show c.666+2217_666+2218insCGCGCAGCGCGCGCGCG	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	5/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44310954	C C	CGCGCGCG others(10): Show CGCGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	340	0.0029	17	c.666 others(34): Show c.666+2214_666+2215insTGCGCGCGCGCGCGCGC	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	5/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44310957	G G	GCGCTGCG others(10): Show GCGCTGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	340	0.0029	17	c.666 others(34): Show c.666+2211_666+2212insTGCGCGCGCGCGCAGCG	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	5/8			chr1	TogoVar
ERICH1_chr8_659200_736224	700363	G G	GCCCTCAC others(10): Show GCCCTCACAGGCCACAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0218 a0001c0003t0001g0218	1	378	0.0027	17	c.170 others(34): Show c.170-7752_170-7751insTCTGTGGCCTGTGAGGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0245 a0007c0011t0002g0245	1	378	0.0027	17	c.169 others(34): Show c.169+7163_169+7179dupAAAAAAAAAAAAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98069315	T T	TCCACCCC others(10): Show TCCACCCCATCCTCATCA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	442	0.0023	17	c.58+ others(32): Show c.58+4589_58+4605dupCCACCCCATCCTCATCA	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98070660	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01168.hp2 others(7): Show HG00639.hp1 HG00642.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01891.hp1 HG02622.hp2 HG03516.hp1 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0012 a0001c0001 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0012c0012t0001 a0001c0001t0001 a0001c0001t0002 a0012c0012t0001	a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 others(6): Show a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0002g0003 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0341 a0012c0012t0001g0061	10	442	0.0226	17	c.58+ others(32): Show c.58+5939_58+5955dupAAAAAAAAAAAAAAAAA	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98075785	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0429 a0001c0001t0002g0429	1	442	0.0023	17	c.58+ others(34): Show c.58+11061_58+11077dupTTTTTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091897	T T	TTTTTCTT others(10): Show TTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	442	0.0023	17	c.101 others(36): Show c.1013-1322_1013-1321insTTCTTTCTTTCTTTCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(10): Show CTTTCTTTCTTCTTCTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0405 a0001c0001t0001g0405	1	442	0.0023	17	c.101 others(36): Show c.1013-1321_1013-1320insTTTCTTTCTTCTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTTTCT others(10): Show CTTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	442	0.0023	17	c.101 others(36): Show c.1013-1321_1013-1320insTTTTTCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERO1A_chr14_52634915_52700558	52647142	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0276 a0001c0001t0004g0276	1	398	0.0025	17	c.112 others(34): Show c.1126-698_1126-682dupAAAAAAAAAAAAAAAAA	ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	13/15			chr14	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02897.hp2 others(2): Show HG02486.hp2 HG02572.hp2 HG02897.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0089 a0001c0001t0003g0097 a0001c0001t0003g0101 others(2): Show a0001c0001t0003g0089 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0003g0109 a0001c0001t0013g0071	5	220	0.0227	17	c.58- others(32): Show c.58-2920_58-2904dupTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100063092	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	220	0.0046	17	c.58- others(32): Show c.58-2921_58-2920insCTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERRFI1_chr1_8006727_8031309	8007498	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	402	0.0025	17	c.57 others(28): Show c.5711_*5712insTATATATATATATATAT	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4228		chr1	TogoVar
ERVK3-1_chr19_58300377_58321812	58317583	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03195.hp2 HG03225.hp1 others(4): Show HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014	a0001c0001t0005g0010 a0001c0001t0005g0049 a0001c0001t0005g0052 others(3): Show a0001c0001t0005g0010 a0001c0001t0005g0049 a0001c0001t0005g0052 a0001c0001t0005g0115 a0001c0001t0011g0028 a0001c0001t0014g0010	7	424	0.0165	17	c.28 others(28): Show c.2800_*2801insAAAAAAAAAAAAAAAAA	ERVK3-1	ENSG00000142396.11	transcript	ENST00000413518.6	protein_coding		772		chr19	TogoVar
ERVMER34-1_chr4_52737553_52756425	52741154	G G	GGAAAGGA others(10): Show GGAAAGGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0009 a0002c0006t0002g0009	1	392	0.0026	17	c.26 others(28): Show c.2674_*2675insTTTCTTTCTTTCCTTTC	ERVMER34-1	ENSG00000226887.8	transcript	ENST00000443173.6	protein_coding		1398		chr4	TogoVar
ERVV-1_chr19_53008921_53021123	53011167	C C	CTTTTTTC others(10): Show CTTTTTTCTTTTCTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0000 a0005c0009t0004g0000	2	404	0.0050	17	c.-29 others(28): Show c.-2924_-2923insTTTTTTCTTTTCTTTTT	ERVV-1	ENSG00000269526.2	transcript	ENST00000602168.2	protein_coding		2753		chr19	TogoVar
ERVV-2_chr19_53039740_53056680	53051136	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA21309.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0047 a0001c0001t0017g0063 a0001c0001t0017g0047 a0001c0001t0017g0063	2	446	0.0045	17	c.28 others(26): Show c.289_*305dupTTTTTTTTTTTTTTTTT	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(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG01981.hp2 others(13): Show HG00323.hp2 HG00609.hp1 HG01981.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp1 NA18947.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18973.hp2 NA18989.hp1 NA19000.hp1 NA19001.hp2 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0019 others(1): Show a0001c0001 a0001c0002 a0001c0019 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0019t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0019t0001 a0002c0003t0001	a0001c0001t0001g0043 a0001c0001t0001g0304 a0001c0001t0001g0310 others(13): Show a0001c0001t0001g0043 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0324 a0001c0001t0001g0330 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0185 a0001c0002t0001g0197 a0001c0019t0001g0211 a0002c0003t0001g0142 a0002c0003t0001g0151 a0002c0003t0001g0157 a0002c0003t0001g0162 a0002c0003t0001g0242	16	390	0.0410	17	c.226 others(34): Show c.2262+547_2262+563dupAAAAAAAAAAAAAAAAA	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13			chr20	TogoVar
ESPL1_chr12_53263299_53298638	53265201	T T	TGCCTCAG others(10): Show TGCCTCAGCCTCCTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0173 a0007c0007t0002g0176 a0007c0007t0002g0173 a0007c0007t0002g0176	2	334	0.0060	17	c.-31 others(28): Show c.-3189_-3188insGCCTCAGCCTCCTCCCA	ESPL1	ENSG00000135476.12	transcript	ENST00000257934.9	protein_coding		3097		chr12	TogoVar
ESR1_chr6_151802682_152108274	151925124	T T	TTTTTTTT others(10): Show TTTTTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02970.hp1 others(4): Show HG02559.hp2 HG02615.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp2 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0009 a0001c0002t0013 a0001c0002t0019	a0001c0001t0001g0020 a0001c0001t0011g0159 a0001c0001t0012g0068 others(4): Show a0001c0001t0001g0020 a0001c0001t0011g0159 a0001c0001t0012g0068 a0001c0002t0001g0243 a0001c0002t0009g0249 a0001c0002t0013g0132 a0001c0002t0019g0240	7	250	0.0280	17	c.761 others(36): Show c.761-19042_761-19041insTGTTTGTTTGTTTTTTT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR2_chr14_64223317_64299371	64226698	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00735.hp1 others(21): Show HG00438.hp2 HG00558.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01257.hp1 HG01993.hp2 HG02109.hp1 HG02129.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG04204.hp2 HG06807.hp2 NA18964.hp2 NA18983.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0013 a0001c0001t0019 others(7): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0043 a0001c0001t0044 a0001c0001t0059 a0001c0002t0060	a0001c0001t0005g0001 a0001c0001t0005g0011 a0001c0001t0005g0012 others(19): Show a0001c0001t0005g0001 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0013g0199 a0001c0001t0019g0252 a0001c0001t0021g0245 a0001c0001t0021g0246 a0001c0001t0021g0247 a0001c0001t0023g0195 a0001c0001t0023g0196 a0001c0001t0023g0197 a0001c0001t0026g0002 a0001c0001t0043g0015 a0001c0001t0044g0016 a0001c0001t0059g0248 a0001c0002t0060g0180	24	368	0.0652	17	c.64 others(28): Show c.6438_*6439insAAAAAAAAAAAAAAAAA	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding		1618		chr14	TogoVar
ESR2_chr14_64223317_64299371	64240231	A A	ACAGGAGA others(10): Show ACAGGAGACCAAACTATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02897.hp1 HG03195.hp1 others(2): Show HG02572.hp1 HG02897.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0069 a0001c0001t0009 a0001c0001t0069	a0001c0001t0009g0235 a0001c0001t0009g0237 a0001c0001t0009g0239 others(2): Show a0001c0001t0009g0235 a0001c0001t0009g0237 a0001c0001t0009g0239 a0001c0001t0009g0242 a0001c0001t0069g0238	5	368	0.0136	17	c.122 others(36): Show c.1226-5098_1226-5082dupCATAGTTTGGTCTCCTG	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding	7/8			chr14	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	374	0.0027	17	c.182 others(36): Show c.1820+4562_1820+4563insATATATATATATATATT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar

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