Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ERC1_chr12_986223_1500931	1493544	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0079 a0002c0002t0042g0079	1	162	0.0062	26	c.33 others(37): Show c.3315_*3316insTATATATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3316	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0085 a0001c0001t0056g0085	1	162	0.0062	26	c.33 others(37): Show c.3323_*3348dupATATATATATATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3349	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	56040611	A A	AATATATA others(19): Show AATATATAGATGTATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG03834.hp1 HG01109.hp1 HG02486.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 a0001c0001t0002 a0001c0001t0004 a0001c0002t0004	a0001c0001t0002g0034 a0001c0001t0004g0022 a0001c0002t0004g0001 a0001c0001t0002g0034 a0001c0001t0004g0022 a0001c0002t0004g0001	3	74	0.0405	26	c.164 others(47): Show c.1642-21606_1642-21581dupGTATATATACATATACATCTATAT AT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56340542	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	74	0.0135	26	c.658 others(45): Show c.658-44133_658-44108dupCACACACACACACACACACACACACA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03453.hp1 HG03471.hp2 others(1): Show HG00733.hp1 HG03453.hp1 HG03471.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0029 a0001c0001t0003g0164 a0001c0001t0003g0165	4	420	0.0095	26	c.844 others(41): Show c.844-866_844-841dupCACACACACACACACACACACACACA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	95907836	C C	CACACACA others(19): Show CACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG01123.hp1 others(12): Show HG00323.hp1 HG00609.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01975.hp2 HG02148.hp2 HG02280.hp1 HG02622.hp2 HG03209.hp2 NA18747.hp2 NA18948.hp2 NA18962.hp2 NA19086.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0012	a0001c0001 a0003c0003 a0003c0015 others(2): Show a0001c0001 a0003c0003 a0003c0015 a0005c0006 a0012c0013	a0001c0001t0081 a0003c0003t0012 a0003c0003t0021 others(6): Show a0001c0001t0081 a0003c0003t0012 a0003c0003t0021 a0003c0003t0055 a0003c0003t0060 a0003c0015t0021 a0005c0006t0017 a0005c0006t0032 a0012c0013t0079	a0001c0001t0081g0038 a0003c0003t0012g0260 a0003c0003t0012g0262 others(12): Show a0001c0001t0081g0038 a0003c0003t0012g0260 a0003c0003t0012g0262 a0003c0003t0012g0263 a0003c0003t0012g0264 a0003c0003t0012g0288 a0003c0003t0021g0287 a0003c0003t0021g0289 a0003c0003t0055g0286 a0003c0003t0060g0261 a0003c0015t0021g0290 a0005c0006t0017g0023 a0005c0006t0032g0017 a0005c0006t0032g0022 a0012c0013t0079g0099	15	392	0.0383	26	c.788 others(41): Show c.788+585_788+586insACACAAACACACACACACACACACAC	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(19): Show CACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18982.hp1 NA18993.hp1 others(3): Show NA18940.hp1 NA18982.hp1 NA18993.hp1 NA18993.hp2 NA19056.hp1 NA20129.hp1	a0001 a0004 a0025 a0001 a0004 a0025	a0001c0001 a0004c0004 a0025c0029 a0001c0001 a0004c0004 a0025c0029	a0001c0001t0001 a0004c0004t0005 a0025c0029t0094 a0001c0001t0001 a0004c0004t0005 a0025c0029t0094	a0001c0001t0001g0065 a0001c0001t0001g0087 a0004c0004t0005g0248 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0087 a0004c0004t0005g0248 a0004c0004t0005g0249 a0004c0004t0005g0250 a0025c0029t0094g0207	6	392	0.0153	26	c.788 others(41): Show c.788+585_788+586insACACACAAACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907840	C C	CACACACA others(19): Show CACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0341 a0002c0002t0003g0341	1	392	0.0026	26	c.788 others(41): Show c.788+585_788+586insACACACACAAACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	96003616	G G	GGGTGCTA others(19): Show GGGTGCTATAGACTATAGCACCCACAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0328 a0002c0002t0007g0328	1	392	0.0026	26	c.349 others(43): Show c.3493-894_3493-869dupGACTATAGCACCCACATGGTGCTATA	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6_chr10_49449470_49544121	49541159	A A	AGACGTGC others(19): Show AGACGTGCTCTGTCTTCCCTTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	388	0.0026	26	c.-22 others(37): Show c.-2213_-2212insAGAAGAAAGGGAAGACAGAGCACGTC	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding		2039		chr10	TogoVar
ERCC6_chr10_49510198_49544121	49541159	A A	AGACGTGC others(19): Show AGACGTGCTCTGTCTTCCCTTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	402	0.0025	26	c.-22 others(37): Show c.-2213_-2212insAGAAGAAAGGGAAGACAGAGCACGTC	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding		2039		chr10	TogoVar
ERFL_chr19_41902704_41933449	41914568	T T	TGTCTCTC others(19): Show TGTCTCTCCCTCCCCTCCATCATCTCC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	330	0.0030	26	c.-13 others(43): Show c.-13-1637_-13-1636insGGAGATGATGGAGGGGAGGGAGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(19): Show ATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	334	0.0030	26	c.83- others(41): Show c.83-3096_83-3095insATATATATATATGTGTGTGTGTGTGT	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(19): Show ATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19057.hp2 HG02615.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0164 a0001c0001t0003g0144 a0001c0001t0001g0164 a0001c0001t0003g0144	2	334	0.0060	26	c.83- others(41): Show c.83-3096_83-3095insATATATATATGTGTGTGTGTGTGTGT	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(19): Show ATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00733.hp2 others(3): Show HG00280.hp2 HG00423.hp2 HG00733.hp2 HG02523.hp2 HG03239.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0127 others(3): Show a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0001t0002g0173 a0001c0001t0006g0006	6	334	0.0180	26	c.83- others(41): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGTGTGTGT	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(19): Show ATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG02129.hp1 HG01928.hp1 HG01928.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0253 a0001c0001t0001g0271 a0001c0001t0001g0028 a0001c0001t0001g0253 a0001c0001t0001g0271	3	334	0.0090	26	c.83- others(41): Show c.83-3096_83-3095insATATGTGTGTGTGTGTGTGTGTGTGT	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(19): Show ATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	334	0.0030	26	c.83- others(41): Show c.83-3096_83-3095insATGTGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893913	G G	GTATATAT others(19): Show GTATATATATATATACACATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG02647.hp2 others(5): Show HG01109.hp2 HG02615.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0034	a0001c0001t0001g0318 a0001c0001t0003g0154 a0001c0001t0003g0309 others(5): Show a0001c0001t0001g0318 a0001c0001t0003g0154 a0001c0001t0003g0309 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0292 a0001c0001t0005g0320 a0001c0001t0034g0086	8	334	0.0240	26	c.83- others(41): Show c.83-3088_83-3087insATATATATATATACACATATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02109.hp1 HG01168.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0137 a0001c0001t0002g0016 a0001c0001t0002g0137	2	334	0.0060	26	c.83- others(41): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTATATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	334	0.0030	26	c.83- others(41): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTGTATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp2 NA18951.hp2 HG03209.hp1 HG03453.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0029 a0001c0001t0001 a0001c0001t0025 a0001c0001t0029	a0001c0001t0001g0205 a0001c0001t0025g0054 a0001c0001t0029g0131 a0001c0001t0001g0205 a0001c0001t0025g0054 a0001c0001t0029g0131	3	334	0.0090	26	c.83- others(41): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTGTGTGTATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	334	0.0030	26	c.83- others(41): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTGTGTGTGTAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908331	G G	GGGGGAGG others(19): Show GGGGGAGGGGGGGAGGGGGGGGAGAGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0054 a0001c0001t0025g0054	1	334	0.0030	26	c.156 others(43): Show c.156-1325_156-1324insGAGGGGGGGGAGAGAGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERG_chr21_38375036_38503477	38407634	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02486.hp2 HG02572.hp2 others(4): Show HG00639.hp2 HG02486.hp2 HG02572.hp2 HG02818.hp1 HG02896.hp2 HG02976.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0264 others(4): Show a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0276 a0001c0001t0001g0286 a0001c0001t0001g0323 a0001c0003t0001g0293	7	360	0.0194	26	c.389 others(43): Show c.389-3926_389-3925insTATATATATATATATATATATATATA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERG_chr21_38375036_38503477	38429299	C C	CATATGTA others(19): Show CATATGTATATATGTACATATACACAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0350 a0001c0001t0002g0350	1	360	0.0028	26	c.237 others(43): Show c.237-5764_237-5739dupATGTGTATATGTACATATATACATAT	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	2/9			chr21	TogoVar
ERICH1_chr8_659200_736224	676418	G G	GTGAGGAC others(19): Show GTGAGGACAGAGGCGCGGCGGCCCCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02970.hp1 HG01255.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0312 a0001c0003t0002g0314 a0001c0003t0002g0312 a0001c0003t0002g0314	2	378	0.0053	26	c.305 others(43): Show c.305-2372_305-2371insGAGGGGCCGCCGCGCCTCTGTCCTCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700237	C C	CCACACAC others(19): Show CCACACACGCGCACAGGGCCGCACAGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03098.hp1 HG03490.hp1 others(1): Show HG01099.hp1 HG03098.hp1 HG03490.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0001 a0002c0005t0002 a0001c0001t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0002g0330 a0002c0005t0001g0235 a0002c0005t0001g0236 others(1): Show a0001c0001t0002g0330 a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0002g0284	4	378	0.0106	26	c.170 others(43): Show c.170-7626_170-7625insCCTGTGCGGCCCTGTGCGCGTGTGTG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0265 a0001c0002t0002g0265	1	378	0.0027	26	c.169 others(43): Show c.169+7154_169+7179dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(6): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03209.hp1 HG03471.hp1 HG06807.hp1 NA18906.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0004 a0003c0006 others(1): Show a0001c0003 a0003c0004 a0003c0006 a0004c0005	a0001c0003t0001 a0003c0004t0001 a0003c0006t0001 others(1): Show a0001c0003t0001 a0003c0004t0001 a0003c0006t0001 a0004c0005t0001	a0001c0003t0001g0177 a0003c0004t0001g0146 a0003c0004t0001g0158 others(6): Show a0001c0003t0001g0177 a0003c0004t0001g0146 a0003c0004t0001g0158 a0003c0006t0001g0229 a0003c0006t0001g0230 a0003c0006t0001g0232 a0003c0006t0001g0233 a0004c0005t0001g0127 a0004c0005t0001g0131	9	348	0.0259	26	c.134 others(45): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(19): Show CATATATATATATATGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01516.hp2 HG01978.hp1 others(8): Show HG01175.hp2 HG01516.hp2 HG01978.hp1 HG02071.hp2 HG02300.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp1	a0003 a0004 a0014 a0003 a0004 a0014	a0003c0004 a0003c0006 a0004c0005 others(1): Show a0003c0004 a0003c0006 a0004c0005 a0014c0015	a0003c0004t0001 a0003c0006t0001 a0004c0005t0001 others(1): Show a0003c0004t0001 a0003c0006t0001 a0004c0005t0001 a0014c0015t0001	a0003c0004t0001g0185 a0003c0006t0001g0009 a0003c0006t0001g0206 others(7): Show a0003c0004t0001g0185 a0003c0006t0001g0009 a0003c0006t0001g0206 a0003c0006t0001g0210 a0003c0006t0001g0211 a0003c0006t0001g0216 a0003c0006t0001g0265 a0004c0005t0001g0052 a0014c0015t0001g0033 a0014c0015t0001g0058	11	348	0.0316	26	c.134 others(45): Show c.1343+1691_1343+1692insATATATATATACATATATATATATAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERLIN2_chr8_37731634_37763422	37734517	A A	AAGGAAGG others(19): Show AAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	224	0.0045	26	c.-21 others(37): Show c.-2177_-2176insAGGAAGGAAGGAAGGAAGGAAGGAAG	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding		2116		chr8	TogoVar
ERMN_chr2_157313631_157330824	157318154	T T	TTATTTTT others(19): Show TTATTTTTACTTATTTTAAAATAAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA19087.hp2 HG00673.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	368	0.0054	26	c.31 others(37): Show c.3116_*3117insTACTTATTTTAAAATAAGTAAAAATA	ERMN	ENSG00000136541.15	transcript	ENST00000410096.6	protein_coding		476		chr2	TogoVar
ERO1B_chr1_236210101_236286958	236239809	G G	GTGTGTAT others(19): Show GTGTGTATATATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp2 HG02040.hp2 others(6): Show HG00673.hp2 HG01243.hp2 HG02040.hp2 HG02083.hp1 HG02809.hp2 HG02886.hp1 HG03225.hp2 NA19009.hp2 NA19043.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0011 a0001c0001 a0003c0004 a0007c0011	a0001c0001t0002 a0001c0001t0021 a0001c0001t0058 others(3): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0058 a0001c0001t0059 a0003c0004t0025 a0007c0011t0071	a0001c0001t0002g0091 a0001c0001t0002g0312 a0001c0001t0021g0019 others(6): Show a0001c0001t0002g0091 a0001c0001t0002g0312 a0001c0001t0021g0019 a0001c0001t0058g0097 a0001c0001t0059g0098 a0003c0004t0025g0015 a0003c0004t0025g0017 a0003c0004t0025g0018 a0007c0011t0071g0016	9	396	0.0227	26	c.506 others(43): Show c.506-3412_506-3411insTATATATACACATATATATATACACA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245314	A A	ATATACAC others(19): Show ATATACACACACACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02896.hp1 others(5): Show HG02258.hp2 HG02486.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG06807.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0014 a0003c0005t0038 others(2): Show a0003c0005t0011 a0003c0005t0014 a0003c0005t0038 a0003c0005t0039 a0003c0005t0061	a0003c0005t0011g0282 a0003c0005t0014g0277 a0003c0005t0014g0279 others(4): Show a0003c0005t0011g0282 a0003c0005t0014g0277 a0003c0005t0014g0279 a0003c0005t0014g0280 a0003c0005t0038g0005 a0003c0005t0039g0281 a0003c0005t0061g0278	8	396	0.0202	26	c.432 others(43): Show c.432-1820_432-1819insCGTATATATATACGTGTGTGTGTATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245314	A A	ATATATAT others(19): Show ATATATATACACACGTATATATATACG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0117 a0001c0001t0008g0117	1	396	0.0025	26	c.432 others(43): Show c.432-1820_432-1819insCGTATATATATACGTGTGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERP44_chr9_99974185_100104000	100043291	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp2 HG03516.hp2 HG02572.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0109 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0109	3	220	0.0136	26	c.286 others(43): Show c.286+9125_286+9126insCTTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	4/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01175.hp1 others(6): Show HG00642.hp1 HG01069.hp1 HG01175.hp1 HG01433.hp2 HG01934.hp2 HG02056.hp2 NA18955.hp2 NA18983.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0073 a0001c0001t0001g0119 a0001c0001t0001g0141 others(6): Show a0001c0001t0001g0073 a0001c0001t0001g0119 a0001c0001t0001g0141 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0005g0193 a0001c0001t0005g0194	9	220	0.0409	26	c.58- others(41): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERRFI1_chr1_8006727_8031309	8007481	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	402	0.0025	26	c.57 others(37): Show c.5728_*5729insTATATAGAGAGAGAGAGAGAGAGAGA	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4245		chr1	TogoVar
ERRFI1_chr1_8006727_8031309	8007481	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	402	0.0025	26	c.57 others(37): Show c.5728_*5729insTATAGAGAGAGAGAGAGAGAGAGAGA	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4245		chr1	TogoVar
ERVV-2_chr19_53039740_53056680	53044536	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0038 a0001c0008t0038	a0001c0008t0038g0025 a0001c0008t0038g0025	1	446	0.0022	26	c.-80 others(35): Show c.-808_-807insAAAAAAAAAAAAAAAAAAAAAAAAAA	ERVV-2	ENSG00000268964.3	transcript	ENST00000601417.3	protein_coding		203		chr19	TogoVar
ESCO2_chr8_27769554_27810316	27805287	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intragenic_variant intragenic_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0174 a0001c0001t0040g0174	1	380	0.0026	26	n.278 others(43): Show n.27805292_27805317dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ESCO2	ENSG00000171320.15	gene_variant	ENSG00000171320.15					chr8	TogoVar
ESF1_chr20_13709325_13789919	13716804	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA20905.hp1 HG02083.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0220 a0001c0002t0001g0193 a0001c0001t0001g0220 a0001c0002t0001g0193	2	390	0.0051	26	c.226 others(43): Show c.2262+538_2262+563dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13			chr20	TogoVar
ESR1_chr6_151802682_152108274	151958973	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03540.hp1 others(1): Show HG03098.hp1 HG03130.hp1 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0002t0008 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0002t0008 a0001c0002t0009	a0001c0001t0003g0180 a0001c0001t0008g0021 a0001c0002t0008g0196 others(1): Show a0001c0001t0003g0180 a0001c0001t0008g0021 a0001c0002t0008g0196 a0001c0002t0009g0194	4	250	0.0160	26	c.109 others(47): Show c.1096+14486_1096+14487insTGTGTGTGTGTGTGTGTGTGTGTG TG	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	374	0.0027	26	c.-47 others(37): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GGGGTGTG others(19): Show GGGGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0353 a0001c0003t0001g0353	1	374	0.0027	26	c.932 others(41): Show c.932-880_932-879insGGTGTGTGTGTGTGTGTGTGTGTGTG	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94668789	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp1 NA19057.hp1 others(1): Show HG03130.hp1 HG03540.hp1 NA19057.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0012 a0001c0001t0001 a0001c0001t0004 a0001c0002t0012	a0001c0001t0001g0114 a0001c0001t0001g0230 a0001c0001t0004g0254 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0230 a0001c0001t0004g0254 a0001c0002t0012g0141	4	374	0.0107	26	c.123 others(43): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0363	1	374	0.0027	26	c.182 others(45): Show c.1820+4562_1820+4563insATATATATATATATATATTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94689811	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	374	0.0027	26	c.182 others(45): Show c.1821-2841_1821-2840insTTTTTTTTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76485626	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	318	0.0031	26	c.850 others(43): Show c.850+2876_850+2901dupGAGAGAGAGAGAGAGAGAGAGAGAGA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76489445	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02004.hp1 HG02109.hp1 others(7): Show HG01361.hp1 HG02004.hp1 HG02109.hp1 NA18965.hp1 NA18965.hp2 NA18973.hp1 NA18982.hp1 NA18993.hp1 NA19012.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0036 a0001c0002t0002 a0001c0002t0003 a0002c0003t0004	a0001c0001t0001g0229 a0001c0001t0002g0127 a0001c0001t0002g0267 others(7): Show a0001c0001t0001g0229 a0001c0001t0002g0127 a0001c0001t0002g0267 a0001c0001t0002g0311 a0001c0001t0019g0285 a0001c0001t0036g0172 a0001c0002t0002g0098 a0001c0002t0002g0222 a0001c0002t0003g0280 a0002c0003t0004g0252	10	318	0.0315	26	c.851 others(43): Show c.851-1992_851-1967dupACACACACACACACACACACACACAC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar

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