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	1138229	G G	GTATAATA others(25): Show GTATAATATAATTACAATATATGATATATATTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01358.hp2 others(21): Show HG00639.hp2 HG01109.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03139.hp2 HG03209.hp1 HG03579.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0001 a0001c0001t0067 a0002c0002t0001 others(18): Show a0001c0001t0001 a0001c0001t0067 a0002c0002t0001 a0002c0002t0006 a0002c0002t0016 a0002c0002t0037 a0002c0002t0039 a0002c0002t0075 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0085 a0002c0002t0104 a0002c0002t0115 a0002c0002t0129 a0002c0002t0131 a0002c0002t0134 a0002c0002t0136 a0002c0002t0139 a0002c0002t0140 a0005c0010t0082	a0001c0001t0001g0080 a0001c0001t0067g0121 a0002c0002t0001g0149 others(21): Show a0001c0001t0001g0080 a0001c0001t0067g0121 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0037g0042 a0002c0002t0039g0151 a0002c0002t0075g0073 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0080g0127 a0002c0002t0085g0142 a0002c0002t0104g0043 a0002c0002t0115g0049 a0002c0002t0129g0106 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0136g0100 a0002c0002t0139g0096 a0002c0002t0140g0108 a0005c0010t0082g0126	24	162	0.1482	32	c.157 others(51): Show c.1570-3349_1570-3318dupATTACAATATATGATATATATTATAT AATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1463697	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0117 a0002c0002t0018g0117	1	162	0.0062	32	c.321 others(53): Show c.3213+18951_3213+18982dupGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55761957	C C	CCCCTCCC others(25): Show CCCCTCCCTCCCTCCCTTCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp2 HG03195.hp2 HG02647.hp2 HG03130.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0013 a0001c0001t0001 a0001c0001t0002 a0001c0002t0013	a0001c0001t0001g0052 a0001c0001t0002g0054 a0001c0002t0013g0074 a0001c0001t0001g0052 a0001c0001t0002g0054 a0001c0002t0013g0074	3	74	0.0405	32	c.256 others(53): Show c.2565-27071_2565-27040dupAGAGAGAGAGAGAGGAAGGGAGGG AGGGAGGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56023774	T T	TGAAGGAA others(25): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 NA19043.hp2 HG01109.hp1 HG01346.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0035 a0001c0001t0003g0070 a0001c0001t0004g0022 a0001c0001t0001g0035 a0001c0001t0003g0070 a0001c0001t0004g0022	3	74	0.0405	32	c.164 others(51): Show c.1642-4775_1642-4744dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERCC6L2_chr9_95870691_96023447	95907832	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01358.hp2 others(5): Show HG01256.hp1 HG01258.hp2 HG01358.hp2 HG02040.hp2 HG02717.hp2 HG02896.hp2 HG03540.hp1 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0087 a0004c0004t0037 others(1): Show a0001c0001t0001 a0001c0001t0087 a0004c0004t0037 a0004c0004t0095	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(5): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0087g0068 a0004c0004t0037g0257 a0004c0004t0037g0258 a0004c0004t0095g0259	8	392	0.0204	32	c.788 others(47): Show c.788+585_788+586insACACACAAACACACACACACACACACACAC AC	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(25): Show CACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00673.hp2 others(53): Show HG00423.hp1 HG00609.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01361.hp1 HG01891.hp1 HG01952.hp2 HG02027.hp2 HG02055.hp1 HG02145.hp2 HG02165.hp1 HG02523.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03654.hp2 HG03834.hp2 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0015 a0016 a0017 a0021 a0022	a0001c0001 a0002c0002 a0002c0020 others(6): Show a0001c0001 a0002c0002 a0002c0020 a0003c0003 a0015c0017 a0016c0022 a0017c0021 a0021c0027 a0022c0026	a0001c0001t0001 a0001c0001t0019 a0001c0001t0024 others(18): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0024 a0001c0001t0074 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0035 a0002c0002t0048 a0002c0002t0049 a0002c0002t0051 a0002c0020t0035 a0003c0003t0016 a0015c0017t0033 a0016c0022t0006 a0017c0021t0003 a0021c0027t0070 a0022c0026t0001	a0001c0001t0001g0071 a0001c0001t0019g0209 a0001c0001t0019g0210 others(51): Show a0001c0001t0001g0071 a0001c0001t0019g0209 a0001c0001t0019g0210 a0001c0001t0024g0369 a0001c0001t0074g0208 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0014 a0002c0002t0003g0303 a0002c0002t0003g0308 a0002c0002t0003g0310 a0002c0002t0003g0313 a0002c0002t0003g0315 a0002c0002t0003g0320 a0002c0002t0003g0330 a0002c0002t0003g0331 a0002c0002t0003g0333 a0002c0002t0003g0335 a0002c0002t0003g0337 a0002c0002t0003g0338 a0002c0002t0003g0344 a0002c0002t0003g0345 a0002c0002t0003g0348 a0002c0002t0003g0351 a0002c0002t0003g0355 a0002c0002t0003g0365 a0002c0002t0003g0366 a0002c0002t0006g0011 a0002c0002t0006g0319 a0002c0002t0006g0321 a0002c0002t0006g0324 a0002c0002t0006g0359 a0002c0002t0006g0367 a0002c0002t0007g0012 a0002c0002t0007g0013 a0002c0002t0007g0307 a0002c0002t0007g0327 a0002c0002t0007g0328 a0002c0002t0007g0332 a0002c0002t0007g0340 a0002c0002t0028g0368 a0002c0002t0029g0364 a0002c0002t0030g0363 a0002c0002t0035g0085 a0002c0002t0048g0325 a0002c0002t0049g0346 a0002c0002t0051g0314 a0002c0020t0035g0086 a0003c0003t0016g0270 a0015c0017t0033g0100 a0016c0022t0006g0309 a0017c0021t0003g0196 a0021c0027t0070g0253 a0022c0026t0001g0049	56	392	0.1429	32	c.788 others(47): Show c.788+585_788+586insACACACACAAACACACACACACACACACAC AC	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(25): Show CACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	392	0.0026	32	c.788 others(47): Show c.788+585_788+586insACACACACACAAACACACACACACACACAC AC	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(25): Show CACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0062 a0001c0005t0062	a0001c0005t0062g0219 a0001c0005t0062g0219	1	392	0.0026	32	c.788 others(47): Show c.788+585_788+586insACACACACACACAAACACACACACACACAC AC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907863	A A	ACACAAAC others(25): Show ACACAAACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0066 a0001c0001t0014g0066	1	392	0.0026	32	c.788 others(47): Show c.788+593_788+594insACAAACACACACACACACACACACACACAC CC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
EREG_chr4_74360145_74393749	74363493	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 NA19240.hp2 HG02622.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0110 a0001c0001t0007g0231 a0001c0001t0003g0110 a0001c0001t0007g0231	2	358	0.0056	32	c.-18 others(43): Show c.-1816_-1815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		1651		chr4	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(25): Show ATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	334	0.0030	32	c.83- others(47): Show c.83-3096_83-3095insATATATATATATATGTGTGTGTGTGTGTGT GT	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(25): Show ATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	334	0.0030	32	c.83- others(47): Show c.83-3096_83-3095insATATATATGTGTGTGTGTGTGTGTGTGTGT GT	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(25): Show ATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	334	0.0030	32	c.83- others(47): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGTGTGTGTGTGT GT	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(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18995.hp1 HG02074.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0278 a0001c0001t0001g0250 a0001c0001t0001g0278	2	334	0.0060	32	c.83- others(47): Show c.83-3048_83-3047insATATATATATATATATGTATATATATATAT AT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(25): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	378	0.0027	32	c.169 others(49): Show c.169+7179_169+7180insAAAAAAAAAAAAAAAAAAAAAAAAACAA AAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	442	0.0023	32	c.101 others(51): Show c.1013-1302_1013-1301insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCCTT others(25): Show CTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	442	0.0023	32	c.101 others(51): Show c.1013-1321_1013-1320insTTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG01256.hp2 others(30): Show HG00099.hp2 HG01192.hp2 HG01256.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03139.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp2 NA18747.hp1 NA18960.hp2 NA18992.hp1 NA19030.hp1 NA20752.hp1 NA20805.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0003c0003 a0013c0007 a0001c0001 a0003c0003 a0013c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001 a0013c0007t0002	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0065 others(30): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0065 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0157 a0001c0001t0001g0227 a0001c0001t0001g0332 a0001c0001t0001g0380 a0001c0001t0001g0398 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0120 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0161 a0001c0001t0002g0206 a0001c0001t0002g0299 a0001c0001t0002g0323 a0001c0001t0002g0341 a0001c0001t0002g0354 a0001c0001t0002g0410 a0001c0001t0002g0429 a0001c0001t0002g0430 a0001c0001t0003g0031 a0003c0003t0001g0008 a0003c0003t0001g0075 a0003c0003t0001g0083 a0003c0003t0001g0350 a0013c0007t0002g0155	33	442	0.0747	32	c.101 others(51): Show c.1013-1227_1013-1196dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0145 a0003c0004t0001g0145	1	348	0.0029	32	c.134 others(51): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT ATGTAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp2 others(41): Show HG00423.hp2 HG00438.hp1 HG00609.hp2 HG00621.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp2 HG01433.hp2 HG01884.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02280.hp2 HG02523.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03688.hp2 HG03710.hp2 HG04199.hp2 HG06807.hp2 NA18947.hp2 NA18948.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18969.hp1 NA18973.hp1 NA18978.hp1 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19058.hp2 NA19072.hp2 NA19075.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0017 a0018 a0026 a0028 a0030	a0001c0002 a0001c0003 a0002c0001 others(11): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0003c0006 a0004c0005 a0005c0007 a0006c0008 a0011c0013 a0017c0038 a0018c0022 a0026c0033 a0028c0032 a0030c0035	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(12): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0003c0004t0001 a0003c0006t0002 a0004c0005t0001 a0004c0005t0002 a0005c0007t0001 a0006c0008t0001 a0011c0013t0002 a0017c0038t0002 a0018c0022t0001 a0026c0033t0001 a0028c0032t0001 a0030c0035t0001	a0001c0002t0001g0214 a0001c0002t0001g0224 a0001c0002t0001g0239 others(39): Show a0001c0002t0001g0214 a0001c0002t0001g0224 a0001c0002t0001g0239 a0001c0002t0001g0242 a0001c0002t0001g0248 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0261 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0299 a0001c0003t0001g0186 a0001c0003t0001g0190 a0001c0003t0001g0198 a0002c0001t0001g0005 a0002c0001t0001g0031 a0002c0001t0001g0037 a0002c0001t0001g0040 a0002c0001t0001g0043 a0002c0001t0001g0051 a0002c0001t0001g0060 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0074 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0079 a0002c0001t0001g0087 a0002c0001t0001g0093 a0002c0001t0001g0124 a0003c0004t0001g0162 a0003c0006t0002g0289 a0004c0005t0001g0027 a0004c0005t0002g0006 a0005c0007t0001g0254 a0006c0008t0001g0328 a0011c0013t0002g0312 a0017c0038t0002g0309 a0018c0022t0001g0022 a0026c0033t0001g0203 a0028c0032t0001g0305 a0030c0035t0001g0307	44	348	0.1264	32	c.134 others(51): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT ATATAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERO1B_chr1_236210101_236286958	236239809	G G	GTATATAT others(25): Show GTATATATATATGTGTATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02723.hp1 others(4): Show HG01884.hp1 HG02280.hp2 HG02723.hp1 HG02818.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0029 a0003c0004t0042 a0003c0004t0013 a0003c0004t0029 a0003c0004t0042	a0003c0004t0013g0118 a0003c0004t0013g0125 a0003c0004t0013g0127 others(3): Show a0003c0004t0013g0118 a0003c0004t0013g0125 a0003c0004t0013g0127 a0003c0004t0013g0198 a0003c0004t0029g0002 a0003c0004t0042g0126	7	396	0.0177	32	c.506 others(49): Show c.506-3412_506-3411insTATATATACATATATATACACATATATA TATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp2 HG01943.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0196 a0001c0001t0005g0153 a0001c0001t0005g0196	2	220	0.0091	32	c.58- others(47): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESCO2_chr8_27769554_27810316	27802630	A A	AAATATAT others(25): Show AAATATATATATATATATATATATATATATTAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	380	0.0026	32	c.167 others(49): Show c.1674-675_1674-674insATATATATATATATATATATATATATAT TATA	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESR1_chr6_151802682_152108274	151849988	A A	ATATATAT others(25): Show ATATATATATAATTTTATATATATATACAAAAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0207 a0001c0002t0004g0207	1	250	0.0040	32	c.643 others(49): Show c.643+7211_643+7212insATTTTATATATATATACAAAATTATATA TATA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	151849988	A A	ATATATAT others(25): Show ATATATATATAATTTTGTATATATATACAAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02027.hp1 HG02109.hp2 others(23): Show HG00438.hp1 HG02027.hp1 HG02109.hp2 HG02145.hp1 HG02559.hp1 HG02647.hp1 HG02886.hp1 HG03927.hp2 HG04228.hp1 NA18522.hp1 NA18941.hp1 NA18942.hp2 NA18950.hp2 NA18954.hp1 NA18965.hp2 NA18968.hp1 NA18974.hp1 NA18981.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19064.hp2 NA19065.hp1 NA19081.hp2 NA19082.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0004c0015	a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0003 a0001c0003t0006 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0006t0001 a0001c0007t0005 a0004c0015t0007	a0001c0001t0001g0123 a0001c0001t0026g0115 a0001c0002t0001g0134 others(23): Show a0001c0001t0001g0123 a0001c0001t0026g0115 a0001c0002t0001g0134 a0001c0002t0001g0214 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0208 a0001c0002t0002g0215 a0001c0002t0004g0210 a0001c0002t0005g0183 a0001c0002t0005g0219 a0001c0002t0006g0209 a0001c0002t0028g0211 a0001c0003t0003g0114 a0001c0003t0006g0040 a0001c0003t0006g0056 a0001c0005t0002g0202 a0001c0005t0003g0212 a0001c0005t0006g0184 a0001c0006t0001g0187 a0001c0006t0001g0204 a0001c0006t0001g0218 a0001c0006t0001g0220 a0001c0007t0005g0206 a0004c0015t0007g0185	26	250	0.1040	32	c.643 others(49): Show c.643+7211_643+7212insATTTTGTATATATATACAAAATTATATA TATA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01257.hp2 HG01258.hp1 HG01074.hp2 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0325 a0001c0003t0001g0001 a0001c0003t0001g0325	3	374	0.0080	32	c.-47 others(43): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GGGGTGTG others(25): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03139.hp2 HG01081.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0347 a0001c0003t0001g0348 a0001c0003t0001g0347 a0001c0003t0001g0348	2	374	0.0054	32	c.932 others(47): Show c.932-880_932-879insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	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(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02559.hp1 others(4): Show HG01243.hp1 HG02109.hp1 HG02559.hp1 HG02647.hp1 HG03225.hp1 NA18522.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0185 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0004g0195	7	374	0.0187	32	c.123 others(49): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76454970	T T	TGGTGAGG others(25): Show TGGTGAGGAGTTTGAGACCAGCCTGGCCAACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(62): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03688.hp2 HG03704.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18942.hp2 NA18953.hp1 NA18954.hp1 NA18961.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA19012.hp1 NA19030.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0001c0014 others(2): Show a0001c0001 a0001c0008 a0001c0014 a0002c0003 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0035 a0001c0008t0005 a0001c0014t0009 a0002c0003t0003 a0002c0003t0004 a0005c0013t0002	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(61): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0097 a0001c0001t0001g0124 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0001g0314 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0237 a0001c0001t0002g0311 a0001c0001t0003g0017 a0001c0001t0003g0058 a0001c0001t0003g0289 a0001c0001t0005g0216 a0001c0001t0006g0034 a0001c0001t0006g0137 a0001c0001t0006g0202 a0001c0001t0006g0306 a0001c0001t0007g0042 a0001c0001t0007g0125 a0001c0001t0007g0134 a0001c0001t0007g0183 a0001c0001t0007g0315 a0001c0001t0010g0156 a0001c0001t0011g0001 a0001c0001t0013g0140 a0001c0001t0016g0010 a0001c0001t0016g0191 a0001c0001t0017g0023 a0001c0001t0017g0179 a0001c0001t0018g0192 a0001c0001t0020g0123 a0001c0001t0020g0308 a0001c0001t0024g0035 a0001c0001t0025g0197 a0001c0001t0026g0215 a0001c0001t0032g0273 a0001c0001t0035g0094 a0001c0008t0005g0171 a0001c0014t0009g0141 a0002c0003t0003g0115 a0002c0003t0003g0310 a0002c0003t0004g0063 a0005c0013t0002g0159	65	318	0.2044	32	c.461 others(49): Show c.461-7543_461-7512dupCGGTGAGGAGTTTGAGACCAGCCTGGCC AACA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76489445	C C	CCACACAC others(25): Show CCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02148.hp2 HG01099.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0274 a0001c0001t0002g0276	2	318	0.0063	32	c.851 others(49): Show c.851-1998_851-1967dupACACACACACACACACACACACACACAC ACAC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRG_chr1_216498251_216728429	216511547	T T	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03491.hp1 HG02735.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0160 a0001c0002t0002g0104 a0001c0002t0002g0160	2	286	0.0070	32	c.113 others(51): Show c.1133-4365_1133-4364insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	334	0.0030	32	c.732 others(47): Show c.732+538_732+539insATATATATATATATATATATATATATTTTT TT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	336	0.0030	32	c.40- others(45): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310369	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20129.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0006g0280 a0001c0001t0006g0281	2	336	0.0060	32	c.39+ others(45): Show c.39+980_39+981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02300.hp2 HG02486.hp2 others(1): Show HG01256.hp2 HG02300.hp2 HG02486.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0210 others(1): Show a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0210 a0001c0001t0002g0218	4	336	0.0119	32	c.-54 others(41): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETFA_chr15_76210353_76316469	76311947	T T	TTTTTTTT others(25): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	336	0.0030	32	c.-56 others(41): Show c.-560_-559insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		479		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108753749	T T	TAAGAAAG others(25): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	378	0.0027	32	c.502 others(47): Show c.502-770_502-739dupTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	5/12			chr4	TogoVar
ETV3L_chr1_157087043_157104808	157087906	T T	TAGCTTTT others(25): Show TAGCTTTTAACAAAAAAGTTTAAAAAGTAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	464	0.0022	32	c.47 others(43): Show c.4742_*4743insTTATTACTTTTTAAACTTTTTTGTTAAAAGCT	ETV3L	ENSG00000253831.3	transcript	ENST00000454449.3	protein_coding		4136		chr1	TogoVar
ETV6_chr12_11644674_11900377	11669373	T T	TCCTCCCT others(25): Show TCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01255.hp2 others(3): Show HG01081.hp1 HG01099.hp1 HG01255.hp2 HG01256.hp2 HG02257.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 a0001c0001t0052 a0001c0002t0109	a0001c0001t0001g0040 a0001c0001t0003g0041 a0001c0001t0011g0056 others(3): Show a0001c0001t0001g0040 a0001c0001t0003g0041 a0001c0001t0011g0056 a0001c0001t0021g0033 a0001c0001t0052g0055 a0001c0002t0109g0042	6	262	0.0229	32	c.33+ others(49): Show c.33+19226_33+19227insATCCCTCCCTCCCTCCCTCCCTCCCTCC CTCC	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETV6_chr12_11644674_11900377	11669373	T T	TCCTCCCT others(25): Show TCCTCCCTTCCTCCCTCCCTCCATCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp1 HG01934.hp1 others(7): Show HG00738.hp1 HG01261.hp1 HG01934.hp1 HG02451.hp2 HG02622.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0025 a0001c0001t0031 others(7): Show a0001c0001t0013 a0001c0001t0025 a0001c0001t0031 a0001c0001t0070 a0001c0001t0073 a0001c0001t0080 a0001c0001t0090 a0001c0002t0007 a0001c0002t0011 a0001c0002t0029	a0001c0001t0013g0084 a0001c0001t0025g0089 a0001c0001t0031g0255 others(7): Show a0001c0001t0013g0084 a0001c0001t0025g0089 a0001c0001t0031g0255 a0001c0001t0070g0083 a0001c0001t0073g0082 a0001c0001t0080g0008 a0001c0001t0090g0081 a0001c0002t0007g0006 a0001c0002t0011g0228 a0001c0002t0029g0007	10	262	0.0382	32	c.33+ others(49): Show c.33+19220_33+19221insTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1A_chr2_75487318_75565939	75555301	A A	ATCTCTCT others(25): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	384	0.0026	32	c.-19 others(51): Show c.-192+5347_-192+5378dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0345 a0001c0001t0004g0345	1	384	0.0026	32	c.-19 others(51): Show c.-192+5343_-192+5344insGGGGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0309 a0001c0001t0004g0309	1	384	0.0026	32	c.-19 others(51): Show c.-192+5343_-192+5344insGGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1B_chr1_36317030_36328645	36325108	T T	TTCCAAAC others(25): Show TTCCAAACACCCTACCCAGCTTACAATCTCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	32	c.-16 others(43): Show c.-1681_-1680insTGAGAGATTGTAAGCTGGGTAGGGTGTTTGGA	EVA1B	ENSG00000142694.7	transcript	ENST00000490466.2	protein_coding		1464		chr1	TogoVar
EVA1C_chr21_32407706_32520387	32503549	A A	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp1 HG01952.hp1 others(12): Show HG00140.hp2 HG01261.hp1 HG01952.hp1 HG01993.hp1 HG02109.hp1 HG02273.hp2 HG02976.hp1 HG03486.hp1 NA18950.hp1 NA18957.hp2 NA18973.hp2 NA18977.hp1 NA18994.hp2 NA19004.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0021	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0021t0001	a0001c0001t0001g0341 a0001c0002t0001g0249 a0001c0004t0001g0140 others(12): Show a0001c0001t0001g0341 a0001c0002t0001g0249 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0233 a0001c0004t0001g0243 a0001c0004t0001g0280 a0001c0005t0001g0066 a0001c0005t0001g0068 a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0072 a0001c0005t0001g0079 a0001c0007t0001g0265 a0001c0021t0001g0342	15	346	0.0434	32	c.860 others(47): Show c.860-358_860-357insTAAATAAATAAATAAATAAATAAATAAATA AA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32503565	T T	TAAATAAA others(25): Show TAAATAAATAAATAAATAAATAAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	346	0.0029	32	c.860 others(47): Show c.860-358_860-357insTAAATAAATAAATAAATAAATAAATAAAAA AA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0005 a0005	a0005c0071 a0005c0071	a0005c0071t0001 a0005c0071t0001	a0005c0071t0001g0237 a0005c0071t0001g0237	1	292	0.0034	32	c.114 others(51): Show c.1146-9801_1146-9800insCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5808137	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCTCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02280.hp2 others(2): Show HG01891.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp2 NA20300.hp1	a0006 a0017 a0019 a0006 a0017 a0019	a0006c0012 a0006c0033 a0017c0038 others(1): Show a0006c0012 a0006c0033 a0017c0038 a0019c0061	a0006c0012t0026 a0006c0033t0004 a0017c0038t0004 others(1): Show a0006c0012t0026 a0006c0033t0004 a0017c0038t0004 a0019c0061t0004	a0006c0012t0026g0327 a0006c0033t0004g0199 a0017c0038t0004g0080 others(2): Show a0006c0012t0026g0327 a0006c0033t0004g0199 a0017c0038t0004g0080 a0017c0038t0004g0207 a0019c0061t0004g0197	5	369	0.0136	32	c.256 others(47): Show c.2562-48_2562-47insTCTCCCTTCCTTCCTTCCTCCCTCCCTCCC TC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0008 a0001c0003t0005g0008	1	430	0.0023	32	c.-64 others(41): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084733	A A	AAGAGAGA others(25): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG02970.hp2 HG02809.hp2 HG02895.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0006 a0001c0001t0001 a0001c0004t0006	a0001c0001t0001g0024 a0001c0004t0006g0012 a0001c0004t0006g0029 a0001c0001t0001g0024 a0001c0004t0006g0012 a0001c0004t0006g0029	3	430	0.0070	32	c.-95 others(41): Show c.-958_-957insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		772		chr2	TogoVar

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