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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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
ERCC2_chr19_45344837_45375573	45346838	C C	CCCTCCTT others(22): Show CCCTCCTTAGAATCCCACAGTCCCCAAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp1 others(164): Show HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0007 a0009 a0011 a0014	a0001c0001 a0001c0002 a0001c0009 others(10): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0016 a0001c0020 a0001c0025 a0004c0004 a0005c0011 a0007c0021 a0009c0023 a0011c0024 a0014c0028	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0029 a0001c0001t0031 a0001c0001t0039 a0001c0002t0001 a0001c0002t0030 a0001c0009t0001 a0001c0010t0001 a0001c0016t0001 a0001c0020t0001 a0001c0025t0001 a0004c0004t0001 a0005c0011t0001 a0007c0021t0001 a0009c0023t0001 a0011c0024t0001 a0014c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(112): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0004g0062 a0001c0001t0007g0033 a0001c0001t0007g0135 a0001c0001t0007g0286 a0001c0001t0011g0126 a0001c0001t0011g0295 a0001c0001t0016g0124 a0001c0001t0029g0147 a0001c0001t0031g0058 a0001c0001t0039g0296 a0001c0002t0001g0010 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0039 a0001c0002t0001g0207 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0244 a0001c0002t0001g0256 a0001c0002t0001g0266 a0001c0002t0001g0271 a0001c0002t0030g0242 a0001c0009t0001g0026 a0001c0010t0001g0158 a0001c0010t0001g0162 a0001c0016t0001g0176 a0001c0020t0001g0195 a0001c0025t0001g0294 a0004c0004t0001g0073 a0004c0004t0001g0077 a0004c0004t0001g0189 a0004c0004t0001g0190 a0005c0011t0001g0050 a0007c0021t0001g0160 a0009c0023t0001g0155 a0011c0024t0001g0131 a0014c0028t0001g0199	167	412	0.4053	29	c.47 others(40): Show c.4762_*4790dupATCTTGGGGACTGTGGGATTCTAAGGAGG	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		2998		chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	95907838	C C	CACACACA others(22): Show CACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0223 a0004c0004t0005g0223	1	392	0.0026	29	c.788 others(44): Show c.788+585_788+586insACACACACACAACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERFL_chr19_41902704_41933449	41914969	C C	CCTCCTCT others(22): Show CCTCCTCTTCCACTATCTCTGTCTCTGTCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18906.hp2 HG02970.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0012 a0001c0002 a0006c0012	a0001c0002t0002 a0006c0012t0002 a0001c0002t0002 a0006c0012t0002	a0001c0002t0002g0127 a0006c0012t0002g0126 a0001c0002t0002g0127 a0006c0012t0002g0126	2	330	0.0061	29	c.-13 others(46): Show c.-13-2038_-13-2037insAGACAGAGACAGAGATAGTGGAAGAGGA G	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGGGGAGG others(22): Show AGGGGAGGAGGTGGGGGAGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03098.hp2 NA18985.hp1 HG01978.hp1 HG03098.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0058 a0001c0001t0001g0148 a0001c0001t0033g0085 a0001c0001t0001g0058 a0001c0001t0001g0148 a0001c0001t0033g0085	3	334	0.0090	29	c.156 others(46): Show c.156-1337_156-1336insAGGTGGGGGAGGAGGGGGAGGGGGGGAG G	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERI3_chr1_44216070_44360257	44317499	G G	GACAGAAA others(22): Show GACAGAAAATAACTCCTTGACAATATTCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02895.hp1 others(1): Show HG01243.hp2 HG02723.hp1 HG02895.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226	4	340	0.0118	29	c.606 others(46): Show c.606+2100_606+2128dupATGAATATTGTCAAGGAGTTATTTTCTG T	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	4/8			chr1	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(22): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	378	0.0027	29	c.169 others(46): Show c.169+7179_169+7180insAAAAAAAAAAAAAAAAAAAAAACAAAAA A	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0235 a0002c0005t0001g0235	1	378	0.0027	29	c.169 others(46): Show c.169+7151_169+7179dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98075785	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	442	0.0023	29	c.58+ others(46): Show c.58+11077_58+11078insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERP44_chr9_99974185_100104000	100043291	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0087	1	220	0.0046	29	c.286 others(46): Show c.286+9125_286+9126insCTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	4/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19082.hp2 HG01109.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0195 a0001c0001t0001g0152 a0001c0001t0001g0195	2	220	0.0091	29	c.58- others(44): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESPNL_chr2_238095340_238138287	238098569	G G	GCCCACAT others(22): Show GCCCACATAGGACCGCCCACATGGGAACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0010 a0002c0004t0002g0010	1	408	0.0025	29	c.-18 others(40): Show c.-1851_-1850insCCCACATAGGACCGCCCACATGGGAACGC	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1770		chr2	TogoVar
ESRRB_chr14_76371137_76506837	76489480	C C	CACACACA others(22): Show CACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0138 a0001c0001t0005g0138	1	318	0.0031	29	c.851 others(46): Show c.851-1967_851-1966insACACACACACACACACACACACACACAC A	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6			chr14	TogoVar
ESS2_chr22_19125279_19149651	19138609	G G	GGATGCTG others(22): Show GGATGCTGACGCCAGGCCCCTGCAGGGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01169.hp1 others(1): Show HG01069.hp1 HG01071.hp1 HG01169.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	4	432	0.0093	29	c.823 others(44): Show c.823-321_823-293dupGCCCCCTGCAGGGGCCTGGCGTCAGCATC	ESS2	ENSG00000100056.12	transcript	ENST00000252137.11	protein_coding	6/9			chr22	TogoVar
ESYT2_chr7_158725997_158834509	158729508	T T	TGCTGGGG others(22): Show TGCTGGGGAGAGGGGCAAGTGAGGAGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0343 a0003c0003t0004g0343	1	370	0.0027	29	c.46 others(40): Show c.4698_*4699insGCACCTCCTCACTTGCCCCTCTCCCCAGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1488		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729512	G G	GGGGAGAG others(22): Show GGGGAGAGGGGCAAGTGAGGATGTGCTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01255.hp1 others(15): Show HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01516.hp2 HG01517.hp2 HG02300.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03491.hp2 HG04228.hp1 HG06807.hp1 NA18964.hp2 NA19064.hp1 NA19087.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0003c0016 a0008c0015 a0003c0003 a0003c0016 a0008c0015	a0003c0003t0004 a0003c0003t0005 a0003c0003t0019 others(4): Show a0003c0003t0004 a0003c0003t0005 a0003c0003t0019 a0003c0003t0021 a0003c0003t0023 a0003c0016t0004 a0008c0015t0004	a0003c0003t0004g0015 a0003c0003t0004g0017 a0003c0003t0004g0332 others(15): Show a0003c0003t0004g0015 a0003c0003t0004g0017 a0003c0003t0004g0332 a0003c0003t0004g0333 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0004g0338 a0003c0003t0004g0339 a0003c0003t0004g0344 a0003c0003t0004g0345 a0003c0003t0004g0346 a0003c0003t0005g0323 a0003c0003t0005g0359 a0003c0003t0019g0004 a0003c0003t0021g0331 a0003c0003t0023g0330 a0003c0016t0004g0078 a0008c0015t0004g0342	18	370	0.0487	29	c.46 others(40): Show c.4694_*4695insGCCAGCACATCCTCACTTGCCCCTCTCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1484		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729729	T T	TGGGGAAG others(22): Show TGGGGAAGAGGGGCAAGTGTGGATGTGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00621.hp1 others(14): Show HG00423.hp1 HG00544.hp2 HG00621.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 NA18612.hp1 NA18944.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18965.hp1 NA19004.hp1 NA19058.hp1 NA19074.hp2 NA19079.hp1 NA19087.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0020 a0002c0004 a0002c0009 a0002c0020	a0002c0004t0003 a0002c0004t0037 a0002c0009t0003 others(1): Show a0002c0004t0003 a0002c0004t0037 a0002c0009t0003 a0002c0020t0003	a0002c0004t0003g0196 a0002c0004t0003g0198 a0002c0004t0003g0199 others(14): Show a0002c0004t0003g0196 a0002c0004t0003g0198 a0002c0004t0003g0199 a0002c0004t0003g0200 a0002c0004t0003g0202 a0002c0004t0003g0206 a0002c0004t0003g0207 a0002c0004t0003g0209 a0002c0004t0003g0210 a0002c0004t0003g0211 a0002c0004t0003g0216 a0002c0004t0003g0217 a0002c0004t0037g0208 a0002c0009t0003g0213 a0002c0009t0003g0214 a0002c0009t0003g0219 a0002c0020t0003g0204	17	370	0.0460	29	c.44 others(40): Show c.4477_*4478insCAGCACATCCACACTTGCCCCTCTTCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1267		chr7	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19011.hp1 NA18981.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0121 a0001c0001t0001g0066 a0001c0001t0001g0121	2	334	0.0060	29	c.732 others(44): Show c.732+538_732+539insATATATATATATATATATATATATTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	336	0.0030	29	c.40- others(42): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	336	0.0030	29	c.-54 others(38): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(22): Show GATATATATATTTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03490.hp2 NA18997.hp2 others(2): Show HG01192.hp2 HG03490.hp2 NA18997.hp2 NA19010.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 others(2): Show a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0285	5	378	0.0132	29	c.701 others(44): Show c.701+321_701+322insATATATATATATATATAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(22): Show GATATATATTTTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0002 a0002c0002t0001 a0002c0004t0002	a0002c0002t0001g0312 a0002c0004t0002g0275 a0002c0002t0001g0312 a0002c0004t0002g0275	2	378	0.0053	29	c.701 others(44): Show c.701+321_701+322insATATATATATATATATATAAAATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108753807	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	378	0.0027	29	c.502 others(44): Show c.502-797_502-796insCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	5/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128548112	G G	GAAGAAAG others(22): Show GAAGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	286	0.0035	29	c.214 others(46): Show c.214+8178_214+8179insTCCTTTCCTTTCCTTTCCTTTCCTTTCT T	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETV1_chr7_13886229_13994666	13896725	A A	AAGAAAGG others(22): Show AAGAAAGGAGAGAGAAAGAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01081.hp1 others(27): Show HG00099.hp2 HG00323.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02165.hp2 HG02622.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG03130.hp1 HG03831.hp1 HG04228.hp2 NA18948.hp2 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18973.hp1 NA18995.hp2 NA19002.hp1 NA19011.hp2 NA19070.hp1 NA19072.hp1 NA19081.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0035 a0001c0001t0038 a0001c0001t0053 a0001c0004t0001 a0001c0005t0010 a0002c0002t0001 a0002c0002t0016 a0002c0002t0052	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0014 others(27): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0105 a0001c0001t0012g0108 a0001c0001t0012g0117 a0001c0001t0012g0285 a0001c0001t0014g0112 a0001c0001t0015g0134 a0001c0001t0016g0165 a0001c0001t0016g0190 a0001c0001t0035g0124 a0001c0001t0038g0306 a0001c0001t0053g0226 a0001c0004t0001g0154 a0001c0005t0010g0115 a0002c0002t0001g0149 a0002c0002t0001g0155 a0002c0002t0001g0194 a0002c0002t0001g0219 a0002c0002t0001g0259 a0002c0002t0001g0273 a0002c0002t0001g0277 a0002c0002t0016g0275 a0002c0002t0052g0260	30	320	0.0938	29	c.121 others(46): Show c.1213-639_1213-638insCTTTTTCTTTTTCTTTCTCTCTCCTTTC T	ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	13/13			chr7	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp1 NA18952.hp1 others(1): Show HG00621.hp1 HG00639.hp1 NA18952.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	4	438	0.0091	29	c.-32 others(40): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02738.hp1 HG01256.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0009 a0001c0001t0002 a0001c0002t0009	a0001c0001t0002g0346 a0001c0002t0009g0293 a0001c0001t0002g0346 a0001c0002t0009g0293	2	384	0.0052	29	c.-19 others(48): Show c.-192+5343_-192+5344insGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1C_chr21_32407706_32520387	32512987	G G	GTATAATA others(22): Show GTATAATACTTACAATAATATAGTAAGTAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02258.hp1 HG02818.hp1 HG00741.hp2 HG02258.hp1 HG02818.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0143 a0003c0012t0001g0144 a0003c0012t0001g0236 a0003c0012t0001g0143 a0003c0012t0001g0144 a0003c0012t0001g0236	3	346	0.0087	29	c.950 others(46): Show c.950-1805_950-1777dupGTAAGTATTATAATACTTACAATAATAT A	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32513014	T T	TATTATAA others(22): Show TATTATAATACTTACAATAATATAATAAGC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0071 a0001c0006t0001g0071	1	346	0.0029	29	c.950 others(46): Show c.950-1776_950-1748dupATAAGCATTATAATACTTACAATAATAT A	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVX2_chr2_176072472_176088962	176084733	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0012 a0001c0004t0006g0012	1	430	0.0023	29	c.-95 others(38): Show c.-958_-957insCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		772		chr2	TogoVar
EXD3_chr9_137301896_137428162	137329429	G G	GGGGTCAC others(22): Show GGGGTCACACGGGACTACACGGGACTACAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	82	0.0122	29	c.199 others(48): Show c.1999-5287_1999-5286insGTGTAGTCCCGTGTAGTCCCGTGTGA CCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329464	A A	ACTACACG others(22): Show ACTACACGGGGTCACACGGGACTACACGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0014 a0004c0009t0001g0014	1	82	0.0122	29	c.199 others(48): Show c.1999-5322_1999-5321insCCCGTGTAGTCCCGTGTGACCCCGTG TAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355450	T T	TGGAGGAA others(22): Show TGGAGGAAGGAGGAAGGAGGAAGGAGAAAG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0033 a0016c0026t0001g0033	1	82	0.0122	29	c.758 others(44): Show c.758-678_758-677insCTTTCTCCTTCCTCCTTCCTCCTTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137387159	C C	CCTACTCC others(22): Show CCTACTCCTTGTCTGCCTCCCTCAGCGCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0066 a0005c0005t0001g0066	1	82	0.0122	29	c.56- others(44): Show c.56-3783_56-3782insAGGCGCTGAGGGAGGCAGACAAGGAGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137394358	C C	CCCCGGCC others(22): Show CCCCGGCCTCCCAGCCTCCGCTTCCCTAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00741.hp1 others(10): Show HG00099.hp2 HG00280.hp2 HG00741.hp1 HG01069.hp2 HG01884.hp1 HG02280.hp1 HG02615.hp1 HG02683.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 NA19066.hp1	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0009 a0010 a0017 a0018 a0024 a0027	a0002c0002 a0003c0003 a0004c0009 others(6): Show a0002c0002 a0003c0003 a0004c0009 a0009c0008 a0010c0006 a0017c0030 a0018c0022 a0024c0017 a0027c0035	a0002c0002t0001 a0003c0003t0001 a0004c0009t0001 others(6): Show a0002c0002t0001 a0003c0003t0001 a0004c0009t0001 a0009c0008t0001 a0010c0006t0001 a0017c0030t0001 a0018c0022t0001 a0024c0017t0001 a0027c0035t0001	a0002c0002t0001g0036 a0003c0003t0001g0025 a0003c0003t0001g0037 others(10): Show a0002c0002t0001g0036 a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0041 a0003c0003t0001g0068 a0004c0009t0001g0065 a0009c0008t0001g0012 a0009c0008t0001g0013 a0010c0006t0001g0008 a0017c0030t0001g0015 a0018c0022t0001g0038 a0024c0017t0001g0007 a0027c0035t0001g0040	13	82	0.1585	29	c.55+ others(42): Show c.55+944_55+945insCTTAGGGAAGCGGAGGCTGGGAGGCCGGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137394387	C C	CCCCGGCC others(22): Show CCCCGGCCTCCCAGCCTCCGCTTCCCTAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0001 a0019c0019t0001	a0019c0019t0001g0022 a0019c0019t0001g0022	1	82	0.0122	29	c.55+ others(42): Show c.55+915_55+916insCTTAGGGAAGCGGAGGCTGGGAGGCCGGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0033 a0016c0026t0001g0033	1	82	0.0122	29	c.-47 others(48): Show c.-47-13143_-47-13142insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501418	T T	TTATATAT others(22): Show TTATATATATCTATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	272	0.0037	29	c.238 others(48): Show c.2381-1747_2381-1719dupGATATATATAATATATATAGATATAT ATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	658629	A A	AATATATA others(22): Show AATATATATATATATTTTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0180 a0001c0021t0003g0180	1	272	0.0037	29	c.-43 others(48): Show c.-43-20797_-43-20769dupATATATATATATAAAATATATATATA TAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC2_chr6_480154_698139	658645	T T	TTATATAT others(22): Show TTATATATATATATATATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0171 a0001c0007t0003g0171	1	272	0.0037	29	c.-43 others(48): Show c.-43-20785_-43-20784insTAAAATATATATATATATATATATAT ATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC2_chr6_480154_698139	685869	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	272	0.0037	29	c.-44 others(46): Show c.-44+7149_-44+7150insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133755224	A A	ATATATAT others(22): Show ATATATATATAATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	102	0.0098	29	c.151 others(50): Show c.1515-62082_1515-62081insTTATATATATTATATATATAATAT ATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72397625	A A	AAAAAAAA others(22): Show AAAAAAAAAATAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp2 HG01256.hp2 others(7): Show HG01123.hp2 HG01243.hp2 HG01256.hp2 HG02257.hp1 HG02559.hp2 HG02622.hp2 HG03225.hp2 HG03516.hp2 HG03927.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0019 a0001c0002t0009	a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0048 others(7): Show a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0003g0053 a0001c0001t0003g0058 a0001c0001t0018g0063 a0001c0001t0019g0043 a0001c0002t0009g0003	10	104	0.0962	29	c.198 others(50): Show c.1981-17756_1981-17755insATTTTATTTTATTTTATTTATTTT TTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72620486	G G	GAAATTTA others(22): Show GAAATTTAAATAATTTTAAATTTAAATTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18906.hp1 NA20129.hp1 HG03130.hp1 NA18906.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0013 a0001c0002t0001 a0002c0004t0013	a0001c0002t0001g0006 a0001c0002t0001g0007 a0002c0004t0013g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0002c0004t0013g0005	3	104	0.0289	29	c.670 others(48): Show c.670-44847_670-44819dupAAAATTTAAATTTAAAATTATTTAAA TTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0093 a0001c0003t0001g0093	1	104	0.0096	29	c.114 others(48): Show c.114-26340_114-26339insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	430	0.0023	29	c.-38 others(40): Show c.-3877_-3876insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding		3856		chr10	TogoVar
EXT1_chr8_117789490_118116826	117858810	C C	CAAGGCAG others(22): Show CAAGGCAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0102 a0001c0001t0008g0102	1	190	0.0053	29	c.963 others(48): Show c.963-21610_963-21609insTCCTTCCTTCCTTCCTTCCTTCCTGC CTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXTL1_chr1_26016775_26041464	26027693	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02683.hp2 HG01175.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0003 a0001c0001t0025 a0002c0002t0003	a0001c0001t0025g0070 a0002c0002t0003g0069 a0001c0001t0025g0070 a0002c0002t0003g0069	2	372	0.0054	29	c.780 others(46): Show c.780-1485_780-1484insAAAAAAAAAAAAAGAAAAAAAAAAAAAA A	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EYA2_chr20_46889843_47193844	46986412	A A	AATATCTA others(22): Show AATATCTATATATATAATATATAAATCTAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	238	0.0042	29	c.-10 others(46): Show c.-10-3566_-10-3565insATCTATATATCTATATATATAATATATA A	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47148058	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	238	0.0042	29	c.978 others(46): Show c.978+4925_978+4926insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19081.hp2 HG02615.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0005 a0001c0001t0004g0333 a0001c0001t0002g0005 a0001c0001t0004g0333	2	392	0.0051	29	c.-68 others(48): Show c.-68-15034_-68-15033insATATATATATATATATATATATATAT ATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar

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Search Results (Total: 6085 hits)