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	1122071	A A	ATCTGTGT others(21): Show ATCTGTGTCTCTATCTCTATCTCTATCTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02895.hp2 HG01346.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0106 a0001c0001t0040 a0001c0001t0106	a0001c0001t0040g0150 a0001c0001t0106g0003 a0001c0001t0040g0150 a0001c0001t0106g0003	2	162	0.0124	28	c.156 others(47): Show c.1569+6039_1569+6040insCTGTGTCTCTATCTCTATCTCTATCT CT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122277	G G	GTCTCTAT others(21): Show GTCTCTATCTCTATCTCTATCTATCTCTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0024 a0001c0001t0120g0024	1	162	0.0062	28	c.156 others(47): Show c.1569+6265_1569+6266insATCTCTATCTCTATCTCTATCTCTAT CT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122373	G G	GTCTCTAT others(21): Show GTCTCTATCTCTATCTCTATCTATCTCTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01081.hp2 others(8): Show HG00140.hp2 HG00408.hp1 HG01081.hp2 HG01175.hp1 HG01243.hp2 HG01952.hp1 HG03130.hp2 NA18949.hp2 NA18982.hp1 NA19030.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 others(8): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0043 a0001c0001t0077 a0001c0001t0107 a0001c0001t0111 a0001c0001t0141 a0001c0003t0088 a0002c0002t0101 a0004c0005t0122	a0001c0001t0008g0010 a0001c0001t0010g0009 a0001c0001t0014g0027 others(8): Show a0001c0001t0008g0010 a0001c0001t0010g0009 a0001c0001t0014g0027 a0001c0001t0043g0084 a0001c0001t0077g0012 a0001c0001t0107g0006 a0001c0001t0111g0017 a0001c0001t0141g0002 a0001c0003t0088g0021 a0002c0002t0101g0056 a0004c0005t0122g0057	11	162	0.0679	28	c.156 others(47): Show c.1569+6361_1569+6362insATCTCTATCTCTATCTCTATCTCTAT CT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122375	C C	CTCTATCT others(21): Show CTCTATCTCTATCTGTGTCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0082 a0002c0002t0038g0082	1	162	0.0062	28	c.156 others(47): Show c.1569+6355_1569+6356insGTGTCTCTATCTCTATCTATCTCTAT CT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122439	G G	GTCTCTAT others(21): Show GTCTCTATCTCTATCTCTATCTATCTCTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18949.hp1 NA18612.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0119 a0001c0001t0011 a0001c0001t0119	a0001c0001t0011g0034 a0001c0001t0119g0061 a0001c0001t0011g0034 a0001c0001t0119g0061	2	162	0.0124	28	c.156 others(47): Show c.1569+6427_1569+6428insATCTCTATCTCTATCTCTATCTCTAT CT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196838	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03139.hp1 HG02109.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0067 a0001c0001t0045 a0001c0001t0067	a0001c0001t0045g0066 a0001c0001t0067g0121 a0001c0001t0045g0066 a0001c0001t0067g0121	2	162	0.0124	28	c.235 others(47): Show c.2351+6791_2351+6792insCTCTCTCTCTCTCTCTCTGTCTGTCT CT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1311365	G G	GTTAGAGG others(21): Show GTTAGAGGTATGAGATCAGCCTTAGTTGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG04199.hp1 others(2): Show HG01081.hp1 HG02257.hp1 HG04199.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 others(2): Show a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0002c0002t0099	a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 others(2): Show a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0002c0002t0099g0131	5	162	0.0309	28	c.278 others(49): Show c.2780+21386_2780+21413dupAGGTATGAGATCAGCCTTAGTTGA TTAG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1438950	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02818.hp2 HG01081.hp1 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0099 a0002c0006t0051 a0002c0002t0099 a0002c0006t0051	a0002c0002t0099g0131 a0002c0006t0051g0081 a0002c0002t0099g0131 a0002c0006t0051g0081	2	162	0.0124	28	c.302 others(47): Show c.3025-5611_3025-5610insTATATATATATATATATATATATATA TA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1463697	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG03130.hp1 others(1): Show HG01243.hp1 HG02922.hp1 HG03130.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0054 a0002c0002t0064 others(1): Show a0002c0002t0053 a0002c0002t0054 a0002c0002t0064 a0002c0002t0100	a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0064g0069 others(1): Show a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0064g0069 a0002c0002t0100g0134	4	162	0.0247	28	c.321 others(49): Show c.3213+18955_3213+18982dupGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493544	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0132 a0001c0001t0103g0132	1	162	0.0062	28	c.33 others(39): Show c.3315_*3316insTATATATATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3316	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55583497	T T	TTCCCTCC others(21): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	74	0.0135	28	c.40 others(47): Show c.40-72249_*40-72222dupGGGAGGGAGGGAGGGAGGGAGGGAGG GA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56023767	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0025 a0002c0003t0003g0025	1	74	0.0135	28	c.164 others(47): Show c.1642-4737_1642-4736insCCTTCCTTCCTTCCTTCCTTCCTTCC TT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56023774	T T	TGAAGGAA others(21): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG02647.hp1 others(4): Show HG01069.hp2 HG01099.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG03710.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0041 a0001c0001t0002g0049 a0001c0001t0003g0051 others(4): Show a0001c0001t0001g0041 a0001c0001t0002g0049 a0001c0001t0003g0051 a0001c0001t0005g0053 a0001c0001t0007g0002 a0001c0001t0011g0047 a0001c0002t0001g0067	7	74	0.0946	28	c.164 others(47): Show c.1642-4771_1642-4744dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56032913	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	74	0.0135	28	c.164 others(49): Show c.1642-13883_1642-13882insGTCTCTCTCTCTCTCTTTCTTTCT TTCT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0163 a0001c0001t0006g0209 a0001c0001t0003g0163 a0001c0001t0006g0209	2	420	0.0048	28	c.844 others(43): Show c.844-868_844-841dupCACACACACACACACACACACACACACA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	95907826	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0212 a0001c0001t0019g0212	1	392	0.0026	28	c.788 others(43): Show c.788+558_788+585dupACACACACACACACACACACACACACAC	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(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02015.hp1 HG01106.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0093 a0002c0002t0003 a0002c0002t0093	a0002c0002t0003g0352 a0002c0002t0093g0304 a0002c0002t0003g0352 a0002c0002t0093g0304	2	392	0.0051	28	c.788 others(43): Show c.788+585_788+586insACACAAACACACACACACACACACACAC	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(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01255.hp1 HG01433.hp1 others(25): Show HG00597.hp1 HG01255.hp1 HG01433.hp1 HG01496.hp2 HG01978.hp1 HG02004.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02723.hp2 HG02818.hp1 HG02976.hp1 HG03579.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18940.hp2 NA18946.hp1 NA18947.hp1 NA18957.hp2 NA18989.hp1 NA18999.hp2 NA19011.hp1 NA19062.hp2 NA19091.hp1 NA20905.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0009 a0019 a0024	a0001c0001 a0002c0002 a0005c0006 others(4): Show a0001c0001 a0002c0002 a0005c0006 a0007c0008 a0009c0010 a0019c0018 a0024c0023	a0001c0001t0001 a0001c0001t0014 a0001c0001t0080 others(6): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0080 a0002c0002t0003 a0005c0006t0017 a0007c0008t0023 a0009c0010t0001 a0019c0018t0059 a0024c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0032 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0014g0001 a0001c0001t0080g0079 a0002c0002t0003g0357 a0005c0006t0017g0018 a0005c0006t0017g0019 a0005c0006t0017g0020 a0005c0006t0017g0021 a0007c0008t0023g0294 a0009c0010t0001g0046 a0009c0010t0001g0069 a0019c0018t0059g0336 a0024c0023t0001g0070	28	392	0.0714	28	c.788 others(43): Show c.788+585_788+586insACACACAAACACACACACACACACACAC	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(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG06807.hp2 others(1): Show HG02809.hp1 HG02965.hp1 HG06807.hp2 NA19240.hp1	a0001 a0011 a0001 a0011	a0001c0005 a0011c0009 a0001c0005 a0011c0009	a0001c0005t0063 a0001c0005t0065 a0011c0009t0034 a0001c0005t0063 a0001c0005t0065 a0011c0009t0034	a0001c0005t0063g0103 a0001c0005t0065g0104 a0011c0009t0034g0291 others(1): Show a0001c0005t0063g0103 a0001c0005t0065g0104 a0011c0009t0034g0291 a0011c0009t0034g0292	4	392	0.0102	28	c.788 others(43): Show c.788+585_788+586insACACACACAAACACACACACACACACAC	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(21): Show ATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	334	0.0030	28	c.83- others(43): Show c.83-3096_83-3095insATATATATATATATGTGTGTGTGTGTGT	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(21): Show ATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03927.hp1 HG01071.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0304 a0001c0001t0002g0225 a0001c0001t0002g0304	2	334	0.0060	28	c.83- others(43): Show c.83-3096_83-3095insATATATATGTGTGTGTGTGTGTGTGTGT	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(21): Show ATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02602.hp1 HG01192.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0256 a0001c0001t0001g0090 a0001c0001t0001g0256	2	334	0.0060	28	c.83- others(43): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGTGTGTGTGT	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(21): Show ATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02300.hp1 NA18953.hp1 others(2): Show HG02293.hp2 HG02300.hp1 NA18953.hp1 NA18999.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0075 others(2): Show a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0184 a0001c0001t0001g0279	5	334	0.0150	28	c.83- others(43): Show c.83-3096_83-3095insATATGTGTGTGTGTGTGTGTGTGTGTGT	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(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18612.hp2 HG02647.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0003g0298 a0001c0001t0001g0081 a0001c0001t0003g0298	2	334	0.0060	28	c.83- others(43): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTGTGTGTGTATAT	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(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18983.hp2 HG02129.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0281 a0001c0001t0002g0194 a0001c0001t0001g0281 a0001c0001t0002g0194	2	334	0.0060	28	c.83- others(43): Show c.83-3048_83-3047insATATATATATATGTATATATATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(21): Show AGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19088.hp2 NA18951.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0262 a0001c0001t0001g0248 a0001c0001t0001g0262	2	334	0.0060	28	c.156 others(45): Show c.156-1332_156-1331insGAGAGAGGGGAGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908329	G G	GGAGGTGG others(21): Show GGAGGTGGGGGAGGAGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp2 HG01433.hp2 others(3): Show HG00609.hp2 HG01109.hp2 HG01433.hp2 HG02683.hp1 HG03942.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0240 a0001c0001t0001g0275 a0001c0001t0001g0283 others(3): Show a0001c0001t0001g0240 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0002g0098 a0001c0001t0005g0106 a0001c0001t0011g0117	6	334	0.0180	28	c.156 others(45): Show c.156-1337_156-1336insAGGTGGGGGAGGAGGGGGAGGGGGGGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908329	G G	GGAGGTGG others(21): Show GGAGGTGGGGGAGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18967.hp2 NA18956.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0239 a0001c0001t0001g0100 a0001c0001t0001g0239	2	334	0.0060	28	c.156 others(45): Show c.156-1337_156-1336insAGGTGGGGGAGGAGGGGGGAGGGGGGAG	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(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG03225.hp1 HG02723.hp1 HG02809.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0202 a0001c0001t0001g0263 a0001c0001t0001g0271	3	360	0.0083	28	c.389 others(45): Show c.389-3926_389-3925insTATATATATATATATATATATATATATA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERI1_chr8_8997897_9038338	9024407	C C	CTTTTCTT others(21): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0059 a0003c0010t0059	a0003c0010t0059g0301 a0003c0010t0059g0301	1	426	0.0024	28	c.807 others(45): Show c.807+3944_807+3945insTTTCTTTTCTTTTCTTTTCTTTTCTTTT	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44259875	C C	CTAGATAG others(21): Show CTAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	340	0.0029	28	c.832 others(47): Show c.832-11865_832-11838dupTCTATCTATCTATCTATCTATCTATC TA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERICH1_chr8_659200_736224	675377	T T	TGAGGACA others(21): Show TGAGGACAGAGACGCGGCGCCCCCTCGGC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0309 a0001c0003t0002g0309	1	378	0.0027	28	c.305 others(45): Show c.305-1358_305-1331dupGCCGAGGGGGCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675680	T T	TGAGGACA others(21): Show TGAGGACAGAGACGCGGCGGCCCCTCGGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0284 a0002c0005t0002g0284	1	378	0.0027	28	c.305 others(45): Show c.305-1634_305-1633insGCCGAGGGGCCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675844	T T	TGAGGACA others(21): Show TGAGGACAGAGACGCGGCGCCCCCTCGGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0313 a0001c0003t0002g0313	1	378	0.0027	28	c.305 others(45): Show c.305-1798_305-1797insGCCGAGGGGGCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676116	T T	TGAGGACA others(21): Show TGAGGACAGAGACGCGGCGGCCCCTCGGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	378	0.0027	28	c.305 others(45): Show c.305-2070_305-2069insGCCGAGGGGCCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700515	G G	GGCCCGCA others(21): Show GGCCCGCACACGCGCACAGGCCCGCACAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02698.hp1 HG04184.hp1 others(1): Show HG01361.hp2 HG02698.hp1 HG04184.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0333 a0001c0002t0002g0338 a0001c0002t0002g0347 others(1): Show a0001c0002t0002g0333 a0001c0002t0002g0338 a0001c0002t0002g0347 a0001c0002t0005g0243	4	378	0.0106	28	c.170 others(45): Show c.170-7904_170-7903insGTGTGCGGGCCTGTGCGCGTGTGCGGGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(21): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02071.hp1 HG02135.hp1 HG01517.hp1 HG02071.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0261 a0001c0001t0002g0285 a0001c0001t0002g0286	3	378	0.0079	28	c.169 others(45): Show c.169+7179_169+7180insAAAAAAAAAAAAAAAAAAAAACAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH2_chr2_170765378_170803977	170767747	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	390	0.0026	28	c.-29 others(39): Show c.-2935_-2934insTATATATATATATATATATATATATATA	ERICH2	ENSG00000204334.8	transcript	ENST00000697325.1	protein_coding		2630		chr2	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp2 HG01243.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0360 a0001c0001t0001g0062 a0001c0001t0001g0360	2	442	0.0045	28	c.101 others(47): Show c.1013-1302_1013-1301insTCTTTCTTTCTTTCTTTCTTTCTTTC TT	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(21): Show CTTTCTTTCTTTCTTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18991.hp1 HG03579.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0372 a0001c0001t0002g0185 a0001c0001t0002g0372	2	442	0.0045	28	c.101 others(47): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTTCCTTTCTTTCT TT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00733.hp1 others(41): Show HG00280.hp1 HG00408.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02071.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02647.hp1 HG02895.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp1 HG03654.hp2 HG03834.hp1 NA18944.hp2 NA18947.hp1 NA18957.hp1 NA18966.hp1 NA18982.hp2 NA19001.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19077.hp1 NA19085.hp1 NA20300.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0011 a0001c0001 a0003c0003 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0010c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0018 others(40): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0149 a0001c0001t0001g0174 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0278 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0339 a0001c0001t0001g0356 a0001c0001t0001g0363 a0001c0001t0001g0366 a0001c0001t0001g0382 a0001c0001t0001g0404 a0001c0001t0001g0431 a0001c0001t0002g0121 a0001c0001t0002g0136 a0001c0001t0002g0152 a0001c0001t0002g0169 a0001c0001t0002g0179 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0230 a0001c0001t0002g0281 a0001c0001t0002g0304 a0001c0001t0002g0338 a0001c0001t0002g0385 a0003c0003t0001g0234 a0010c0011t0001g0126	44	442	0.0996	28	c.101 others(47): Show c.1013-1223_1013-1196dupCCTTCCTTCCTTCCTTCCTTCCTTCC TT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01255.hp2 HG01257.hp2 others(17): Show HG00673.hp2 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02630.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03453.hp1 HG03491.hp2 HG03669.hp2 HG04199.hp1 NA18906.hp1 NA18999.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0011 a0012	a0001c0002 a0001c0003 a0002c0001 others(5): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0004c0005 a0006c0008 a0011c0013 a0012c0014	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(5): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0003c0004t0001 a0004c0005t0002 a0006c0008t0001 a0011c0013t0001 a0012c0014t0001	a0001c0002t0001g0237 a0001c0002t0001g0262 a0001c0002t0001g0274 others(16): Show a0001c0002t0001g0237 a0001c0002t0001g0262 a0001c0002t0001g0274 a0001c0002t0001g0285 a0001c0003t0001g0008 a0001c0003t0001g0159 a0001c0003t0001g0161 a0002c0001t0001g0042 a0002c0001t0001g0054 a0002c0001t0001g0080 a0002c0001t0001g0102 a0003c0004t0001g0148 a0003c0004t0001g0172 a0003c0004t0001g0200 a0004c0005t0002g0035 a0004c0005t0002g0129 a0006c0008t0001g0334 a0011c0013t0001g0314 a0012c0014t0001g0023	20	348	0.0575	28	c.134 others(47): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT AT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERICH6_chr3_150654885_150708920	150702919	T T	TCTGTGAG others(21): Show TCTGTGAGAGAGAGAGAGAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(60): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02523.hp1 HG02738.hp2 HG02895.hp2 HG03098.hp1 HG03453.hp1 HG03942.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp2 NA19063.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19078.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0024 a0028 a0033	a0001c0002 a0002c0029 a0003c0006 others(4): Show a0001c0002 a0002c0029 a0003c0006 a0005c0007 a0024c0034 a0028c0032 a0033c0019	a0001c0002t0001 a0001c0002t0002 a0002c0029t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0002c0029t0001 a0003c0006t0001 a0003c0006t0002 a0005c0007t0001 a0024c0034t0002 a0028c0032t0001 a0033c0019t0001	a0001c0002t0001g0012 a0001c0002t0001g0241 a0001c0002t0001g0244 others(58): Show a0001c0002t0001g0012 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0002g0247 a0001c0002t0002g0282 a0002c0029t0001g0137 a0003c0006t0001g0265 a0003c0006t0001g0278 a0003c0006t0001g0284 a0003c0006t0001g0288 a0003c0006t0002g0259 a0003c0006t0002g0289 a0005c0007t0001g0013 a0005c0007t0001g0245 a0005c0007t0001g0254 a0005c0007t0001g0295 a0005c0007t0001g0296 a0024c0034t0002g0294 a0028c0032t0001g0305 a0033c0019t0001g0014	63	348	0.1810	28	c.403 others(43): Show c.403+576_403+577insTCTCTCTCCCTCTCTCTCTCTCTCACAG	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	1/13			chr3	TogoVar
ERLIN2_chr8_37731634_37763422	37734461	C C	CAGGAAGG others(21): Show CAGGAAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG03139.hp2 HG01934.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0050 a0001c0001t0007g0013 a0001c0001t0001g0050 a0001c0001t0007g0013	2	224	0.0089	28	c.-22 others(39): Show c.-2233_-2232insAGGAAGGAAGGAAGGAAGGAAGGAAGGA	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding		2172		chr8	TogoVar
ERMAP_chr1_42812122_42849991	42848562	C C	CAACAACA others(21): Show CAACAACATCAACGGGAGGGAGGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	386	0.0026	28	c.53 others(39): Show c.5330_*5331insAACAACATCAACGGGAGGGAGGGAGGAA	ERMAP	ENSG00000164010.15	transcript	ENST00000372517.8	protein_coding		3572		chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245312	A A	ATATATAC others(21): Show ATATATACACACACACGTATATATATACG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0276 a0003c0005t0011g0276	1	396	0.0025	28	c.432 others(45): Show c.432-1818_432-1817insCGTATATATATACGTGTGTGTGTATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245314	A A	ATATATAT others(21): Show ATATATATACACACACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0014 a0003c0005t0014	a0003c0005t0014g0283 a0003c0005t0014g0283	1	396	0.0025	28	c.432 others(45): Show c.432-1847_432-1820dupCGTATATATATACGTGTGTGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245314	A A	ATATATAT others(21): Show ATATATATATATACACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0314 a0001c0001t0008g0314	1	396	0.0025	28	c.432 others(45): Show c.432-1820_432-1819insCGTATATATATACGTGTATATATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERP44_chr9_99974185_100104000	100061595	G G	GAAATATA others(21): Show GAAATATATATATTTATAGAAATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	220	0.0046	28	c.58- others(43): Show c.58-1451_58-1424dupATATATATTTCTATAAATATATATATTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp2 HG02080.hp1 others(2): Show HG00733.hp1 HG01192.hp2 HG02080.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0001g0150 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0172	5	220	0.0227	28	c.58- others(43): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar

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