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
ABR_chr17_998519_1184981	1118684	C C	CTCCCAGC others(22): Show CTCCCAGCGTTATCCCTGAGCCTGAGTTCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19080.hp1 HG00597.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0304 a0001c0001t0007g0306 a0001c0001t0005g0304 a0001c0001t0007g0306	2	337	0.0059	29	c.246 others(46): Show c.246+6498_246+6499insAGAACTCAGGCTCAGGGATAACGCTGGG A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118714	T T	TCCCAGTG others(22): Show TCCCAGTGTTATCCCTGAGCCTGAGTTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0097 a0001c0001t0014g0097	1	337	0.0030	29	c.246 others(46): Show c.246+6468_246+6469insGAGAACTCAGGCTCAGGGATAACACTGG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118767	G G	GTCCTCCC others(22): Show GTCCTCCCAGCGTTAACCCTGAGCCTGAGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03834.hp1 HG02738.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0170 a0001c0001t0002g0084 a0001c0001t0002g0170	2	337	0.0059	29	c.246 others(46): Show c.246+6415_246+6416insACTCAGGCTCAGGGTTAACGCTGGGAGG A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118782	T T	TCCCTGAG others(22): Show TCCCTGAGCCTGAGTTCTCCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0097 a0001c0001t0014g0097	1	337	0.0030	29	c.246 others(46): Show c.246+6400_246+6401insTTAACGCTGGGGAGAACTCAGGCTCAGG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118854	T T	TCTCCCCA others(22): Show TCTCCCCAGCGTTATCCCTGAGCCTGAGTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19080.hp1 HG00597.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0304 a0001c0001t0007g0306 a0001c0001t0005g0304 a0001c0001t0007g0306	2	337	0.0059	29	c.246 others(46): Show c.246+6328_246+6329insGACTCAGGCTCAGGGATAACGCTGGGGA G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118898	C C	CCTGAGCC others(22): Show CCTGAGCCTGAGTCCTCCCCAGCGTTATCG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0134 a0001c0001t0050g0134	1	337	0.0030	29	c.246 others(46): Show c.246+6284_246+6285insCGATAACGCTGGGGAGGACTCAGGCTCA G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118913	T T	TCCCCAGC others(22): Show TCCCCAGCGTTAACCCTGAGCCTGAGTTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0142 a0001c0001t0006g0142	1	337	0.0030	29	c.246 others(46): Show c.246+6269_246+6270insGGAACTCAGGCTCAGGGTTAACGCTGGG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118913	T T	TCCCCAGC others(22): Show TCCCCAGCGTTATCGCTGAGCCTGAGTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(107): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0012 a0003c0015 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0001t0036 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0057 a0001c0001t0058 a0001c0001t0063 a0001c0001t0064 a0001c0001t0067 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0077 a0001c0001t0081 a0001c0001t0082 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0042 a0001c0002t0060 a0001c0003t0016 a0001c0003t0021 a0001c0003t0080 a0001c0003t0083 a0001c0007t0003 a0001c0010t0001 a0001c0012t0055 a0003c0015t0062 a0004c0011t0009	a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0063 others(107): Show a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0138 a0001c0001t0002g0145 a0001c0001t0002g0182 a0001c0001t0002g0190 a0001c0001t0003g0060 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0129 a0001c0001t0003g0200 a0001c0001t0003g0217 a0001c0001t0003g0222 a0001c0001t0004g0250 a0001c0001t0004g0258 a0001c0001t0004g0263 a0001c0001t0004g0308 a0001c0001t0004g0312 a0001c0001t0004g0316 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0266 a0001c0001t0005g0270 a0001c0001t0005g0273 a0001c0001t0005g0277 a0001c0001t0005g0283 a0001c0001t0005g0309 a0001c0001t0005g0322 a0001c0001t0006g0090 a0001c0001t0006g0094 a0001c0001t0006g0204 a0001c0001t0006g0206 a0001c0001t0006g0233 a0001c0001t0007g0251 a0001c0001t0007g0317 a0001c0001t0007g0325 a0001c0001t0008g0020 a0001c0001t0008g0042 a0001c0001t0009g0023 a0001c0001t0009g0045 a0001c0001t0009g0050 a0001c0001t0010g0260 a0001c0001t0010g0298 a0001c0001t0010g0314 a0001c0001t0011g0125 a0001c0001t0011g0232 a0001c0001t0013g0048 a0001c0001t0015g0262 a0001c0001t0015g0265 a0001c0001t0019g0211 a0001c0001t0019g0221 a0001c0001t0020g0161 a0001c0001t0021g0272 a0001c0001t0026g0030 a0001c0001t0027g0038 a0001c0001t0034g0003 a0001c0001t0036g0044 a0001c0001t0041g0015 a0001c0001t0045g0247 a0001c0001t0046g0154 a0001c0001t0049g0193 a0001c0001t0057g0174 a0001c0001t0058g0076 a0001c0001t0063g0189 a0001c0001t0064g0239 a0001c0001t0067g0091 a0001c0001t0070g0213 a0001c0001t0072g0175 a0001c0001t0073g0245 a0001c0001t0077g0067 a0001c0001t0081g0253 a0001c0001t0082g0302 a0001c0001t0086g0294 a0001c0001t0087g0311 a0001c0001t0089g0331 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0110 a0001c0002t0007g0295 a0001c0002t0008g0037 a0001c0002t0042g0016 a0001c0002t0060g0234 a0001c0003t0016g0218 a0001c0003t0021g0276 a0001c0003t0080g0287 a0001c0003t0083g0285 a0001c0007t0003g0140 a0001c0010t0001g0139 a0001c0012t0055g0235 a0003c0015t0062g0212 a0004c0011t0009g0029	110	337	0.3264	29	c.246 others(46): Show c.246+6269_246+6270insGGAACTCAGGCTCAGCGATAACGCTGGG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119030	T T	TCCCAGCG others(22): Show TCCCAGCGTCATCCCTGAGCCTGAGTTCTC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	337	0.0030	29	c.246 others(46): Show c.246+6152_246+6153insGAGAACTCAGGCTCAGGGATGACGCTGG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119043	C C	CCTGAGCC others(22): Show CCTGAGCCTGAGTTCTCCCCAGCGTTATCG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0289 a0001c0001t0078g0289	1	337	0.0030	29	c.246 others(46): Show c.246+6139_246+6140insCGATAACGCTGGGGAGAACTCAGGCTCA G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119237	G G	GTTATCCC others(22): Show GTTATCCCTGAGCCTGAGTTCTTCCCAGCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18952.hp1 NA19012.hp1 HG01261.hp1 NA18952.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0053 a0001c0001t0002g0095 a0001c0001t0012g0183 a0001c0001t0002g0053 a0001c0001t0002g0095 a0001c0001t0012g0183	3	337	0.0089	29	c.246 others(46): Show c.246+5945_246+5946insAGCTGGGAAGAACTCAGGCTCAGGGATA A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119245	T T	TGAGCCTG others(22): Show TGAGCCTGAGTTCTTCCCAGCTTTATCCCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	337	0.0030	29	c.246 others(46): Show c.246+5937_246+5938insCGGGATAAAGCTGGGAAGAACTCAGGCT C	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119330	T T	ACCCTGAG others(22): Show ACCCTGAGCCTGAGTTCCTCCCAGCGTTAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0303 a0001c0001t0032g0303	1	337	0.0030	29	c.246 others(46): Show c.246+5853_246+5854insTAACGCTGGGAGGAACTCAGGCTCAGGG T	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119384	G G	GTTATCCC others(22): Show GTTATCCCTGAGCCTGAGTTCTTCCCAGCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	337	0.0030	29	c.246 others(46): Show c.246+5798_246+5799insAGCTGGGAAGAACTCAGGCTCAGGGATA A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119384	G G	TTTATCCC others(22): Show TTTATCCCTGAGCCTGAGTTCCTCCCAGCG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG04204.hp1 NA20752.hp1 HG01261.hp2 HG04204.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0081 a0001c0001t0001 a0001c0001t0003 a0001c0001t0081	a0001c0001t0001g0135 a0001c0001t0003g0060 a0001c0001t0081g0253 a0001c0001t0001g0135 a0001c0001t0003g0060 a0001c0001t0081g0253	3	337	0.0089	29	c.246 others(46): Show c.246+5799_246+5800insGCTGGGAGGAACTCAGGCTCAGGGATAA A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119413	G G	TTTATCCC others(22): Show TTTATCCCTGAGCCTGAGTTCTTCCCAGCG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0070 a0001c0002t0053g0070	1	337	0.0030	29	c.246 others(46): Show c.246+5770_246+5771insGCTGGGAAGAACTCAGGCTCAGGGATAA A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119500	G G	GTTATCCC others(22): Show GTTATCCCTGAGCCTGAGTTCTTCCCAGCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0109 a0001c0002t0011g0109	1	337	0.0030	29	c.246 others(46): Show c.246+5682_246+5683insAGCTGGGAAGAACTCAGGCTCAGGGATA A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153372	G G	GCGGGAGG others(22): Show GCGGGAGGGCTGGGGGTCCAGGCACACCTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02083.hp1 HG02970.hp2 others(4): Show HG00597.hp1 HG02083.hp1 HG02970.hp2 HG03130.hp1 NA19005.hp2 NA19060.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015	a0001c0001t0001g0061 a0001c0001t0003g0117 a0001c0001t0005g0296 others(4): Show a0001c0001t0001g0061 a0001c0001t0003g0117 a0001c0001t0005g0296 a0001c0001t0007g0306 a0001c0001t0009g0050 a0001c0001t0011g0246 a0001c0001t0015g0265	7	337	0.0208	29	c.61+ others(46): Show c.61+26294_61+26295insTAGGTGTGCCTGGACCCCCAGCCCTCCC G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153387	A A	ATCCAGGC others(22): Show ATCCAGGCACACCTGCGGGAGGGCTGGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	337	0.0030	29	c.61+ others(46): Show c.61+26251_61+26279dupCCCCCAGCCCTCCCGCAGGTGTGCCTGG A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153445	G G	GTCCAGGC others(22): Show GTCCAGGCACACCTGCGGGAGGGCTAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(39): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01074.hp2 HG01261.hp2 HG01891.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG02273.hp1 HG02523.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp1 HG02970.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18955.hp2 NA18979.hp2 NA18984.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0005 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0046 a0001c0002t0005 a0001c0002t0053 a0001c0003t0012 a0001c0003t0016 a0001c0003t0024 a0001c0003t0051 a0001c0003t0054 a0001c0004t0048 a0001c0007t0003 a0002c0005t0001 a0004c0011t0009	a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0148 others(39): Show a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0003g0060 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0150 a0001c0001t0003g0222 a0001c0001t0003g0237 a0001c0001t0004g0263 a0001c0001t0004g0308 a0001c0001t0004g0329 a0001c0001t0005g0254 a0001c0001t0005g0266 a0001c0001t0005g0270 a0001c0001t0006g0094 a0001c0001t0006g0141 a0001c0001t0007g0251 a0001c0001t0009g0050 a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0298 a0001c0001t0011g0238 a0001c0001t0026g0030 a0001c0001t0028g0123 a0001c0001t0032g0259 a0001c0001t0046g0154 a0001c0002t0005g0305 a0001c0002t0053g0070 a0001c0003t0012g0119 a0001c0003t0016g0163 a0001c0003t0024g0040 a0001c0003t0051g0106 a0001c0003t0054g0231 a0001c0004t0048g0198 a0001c0007t0003g0140 a0002c0005t0001g0197 a0004c0011t0009g0029	42	337	0.1246	29	c.61+ others(46): Show c.61+26221_61+26222insTCCCTAGCCCTCCCGCAGGTGTGCCTGG A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153445	G G	GTCCAGGC others(22): Show GTCCAGGCACACCTGCGGGAGGGCTGGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01952.hp1 HG02109.hp2 others(5): Show HG01243.hp1 HG01952.hp1 HG02109.hp2 HG02280.hp2 HG03098.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0031 a0001c0001t0068 a0001c0002t0011	a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0002g0084 others(5): Show a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0002g0084 a0001c0001t0008g0011 a0001c0001t0019g0221 a0001c0001t0031g0241 a0001c0001t0068g0160 a0001c0002t0011g0109	8	337	0.0237	29	c.61+ others(46): Show c.61+26221_61+26222insTCCCCAGCCCTCCCGCAGGTGTGCCTGG A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153547	G G	GCGGGAGG others(22): Show GCGGGAGGGCTGGGGGTCCAGGCACACCTA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19060.hp2 NA19005.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0117 a0001c0001t0009g0050 a0001c0001t0003g0117 a0001c0001t0009g0050	2	337	0.0059	29	c.61+ others(46): Show c.61+26119_61+26120insTAGGTGTGCCTGGACCCCCAGCCCTCCC G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153576	G G	GCGGGAGG others(22): Show GCGGGAGGGCTGGGGGTCCAGGCACACCTA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	337	0.0030	29	c.61+ others(46): Show c.61+26090_61+26091insTAGGTGTGCCTGGACCCCCAGCCCTCCC G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153592	C C	CCCAGGCA others(22): Show CCCAGGCACACCTGCGGGAGGGCTGGGGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	337	0.0030	29	c.61+ others(46): Show c.61+26046_61+26074dupACCCCCAGCCCTCCCGCAGGTGTGCCTG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153621	T T	TCCAGGCA others(22): Show TCCAGGCACACCTGCGGGAGGGCTGGGGAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0035 a0001c0001t0023g0035	1	337	0.0030	29	c.61+ others(46): Show c.61+26045_61+26046insGTCCCCAGCCCTCCCGCAGGTGTGCCTG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153634	A A	ACGGGAGG others(22): Show ACGGGAGGGCTGGGGACCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03471.hp1 HG02145.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0008 a0001c0001t0014	a0001c0001t0008g0019 a0001c0001t0014g0243 a0001c0001t0008g0019 a0001c0001t0014g0243	2	337	0.0059	29	c.61+ others(46): Show c.61+26004_61+26032dupCAGGTGTGCCTGGGTCCCCAGCCCTCCC G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153650	C C	CCCAGGCA others(22): Show CCCAGGCACACCTGCGGGAGGGCTGGGGGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01952.hp2 HG02273.hp2 others(2): Show HG01943.hp2 HG01952.hp2 HG02273.hp2 HG02293.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0033 a0001c0012t0055	a0001c0001t0002g0223 a0001c0001t0004g0316 a0001c0001t0007g0317 others(2): Show a0001c0001t0002g0223 a0001c0001t0004g0316 a0001c0001t0007g0317 a0001c0001t0033g0327 a0001c0012t0055g0235	5	337	0.0148	29	c.61+ others(46): Show c.61+25988_61+26016dupACCCCCAGCCCTCCCGCAGGTGTGCCTG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153679	T T	TCCAGGCA others(22): Show TCCAGGCACACCTACGGGAGGGCTGGGGAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	337	0.0030	29	c.61+ others(46): Show c.61+25987_61+25988insGTCCCCAGCCCTCCCGTAGGTGTGCCTG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153679	T T	TCCAGGCA others(22): Show TCCAGGCACACCTGCGGGAGGGCTGGGGAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0137 a0001c0001t0065g0137	1	337	0.0030	29	c.61+ others(46): Show c.61+25987_61+25988insGTCCCCAGCCCTCCCGCAGGTGTGCCTG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153708	T T	TCCAGGCA others(22): Show TCCAGGCACACCTACGGGAGGGCTGGGGAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20300.hp2 HG01891.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0237 a0001c0001t0011g0238 a0001c0001t0003g0237 a0001c0001t0011g0238	2	337	0.0059	29	c.61+ others(46): Show c.61+25958_61+25959insGTCCCCAGCCCTCCCGTAGGTGTGCCTG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153721	A A	ACGGGAGG others(22): Show ACGGGAGGGCTGGGGACCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp2 HG01243.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0073 a0001c0001t0029 a0001c0001t0073	a0001c0001t0029g0116 a0001c0001t0073g0245 a0001c0001t0029g0116 a0001c0001t0073g0245	2	337	0.0059	29	c.61+ others(46): Show c.61+25945_61+25946insCAGGTGTGCCTGGGTCCCCAGCCCTCCC G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153721	A A	ACGGGAGG others(22): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG01243.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0230 a0001c0001t0001g0124 a0001c0001t0001g0230	2	337	0.0059	29	c.61+ others(46): Show c.61+25917_61+25945dupCAGGTGTGCCTGGACCCCCAGCCCTCCC G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153794	G G	GTCCAGGC others(22): Show GTCCAGGCACACCTGCGGGAGGGCTGGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03490.hp1 HG01257.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0249 a0001c0001t0009g0023 a0001c0001t0007g0249 a0001c0001t0009g0023	2	337	0.0059	29	c.61+ others(46): Show c.61+25872_61+25873insTCCCCAGCCCTCCCGCAGGTGTGCCTGG A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153808	A A	ACGGGAGG others(22): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02735.hp2 HG00741.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0058 a0001c0001t0005 a0001c0001t0058	a0001c0001t0005g0315 a0001c0001t0058g0076 a0001c0001t0005g0315 a0001c0001t0058g0076	2	337	0.0059	29	c.61+ others(46): Show c.61+25858_61+25859insCAGGTGTGCCTGGACCCCCAGCCCTCCC G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107441774	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02970.hp1 HG02280.hp2 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0004 a0001c0012t0001 a0001c0012t0004 a0001c0001t0004 a0001c0012t0001 a0001c0012t0004	a0001c0001t0004g0046 a0001c0012t0001g0047 a0001c0012t0004g0039 a0001c0001t0004g0046 a0001c0012t0001g0047 a0001c0012t0004g0039	3	186	0.0161	29	c.113 others(50): Show c.1136-78696_1136-78695insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107461576	A A	ACCCCGTT others(22): Show ACCCCGTTTGTGGGAATTTGTTACGGCAGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00621.hp2 others(52): Show HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01074.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01943.hp2 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02155.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03834.hp2 HG03942.hp1 NA18522.hp1 NA18747.hp2 NA18942.hp2 NA18946.hp1 NA18954.hp2 NA18964.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18989.hp2 NA18999.hp1 NA18999.hp2 NA19030.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0016	a0001c0001 a0001c0003 a0001c0011 others(18): Show a0001c0001 a0001c0003 a0001c0011 a0001c0012 a0002c0002 a0002c0009 a0002c0015 a0002c0031 a0003c0004 a0003c0006 a0003c0008 a0003c0020 a0004c0005 a0005c0007 a0006c0014 a0007c0010 a0008c0013 a0009c0034 a0010c0017 a0013c0024 a0016c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0028 a0001c0003t0002 a0001c0003t0005 a0001c0011t0004 a0001c0012t0004 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0038 a0002c0009t0003 a0002c0009t0029 a0002c0015t0007 a0002c0031t0003 a0003c0004t0003 a0003c0004t0004 a0003c0004t0022 a0003c0006t0002 a0003c0006t0005 a0003c0008t0001 a0003c0020t0001 a0004c0005t0008 a0004c0005t0009 a0004c0005t0013 a0004c0005t0032 a0005c0007t0026 a0006c0014t0037 a0007c0010t0003 a0008c0013t0008 a0009c0034t0003 a0010c0017t0003 a0013c0024t0001 a0016c0019t0008	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0026 others(52): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0058 a0001c0001t0002g0082 a0001c0001t0003g0015 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0028g0054 a0001c0003t0002g0095 a0001c0003t0002g0159 a0001c0003t0005g0133 a0001c0003t0005g0143 a0001c0003t0005g0158 a0001c0011t0004g0051 a0001c0012t0004g0039 a0002c0002t0001g0109 a0002c0002t0001g0128 a0002c0002t0004g0061 a0002c0002t0004g0127 a0002c0002t0007g0174 a0002c0002t0010g0173 a0002c0002t0012g0180 a0002c0002t0038g0184 a0002c0009t0003g0064 a0002c0009t0003g0065 a0002c0009t0029g0069 a0002c0015t0007g0166 a0002c0031t0003g0066 a0003c0004t0003g0035 a0003c0004t0003g0038 a0003c0004t0003g0165 a0003c0004t0004g0003 a0003c0004t0022g0041 a0003c0006t0002g0129 a0003c0006t0005g0144 a0003c0006t0005g0149 a0003c0008t0001g0021 a0003c0008t0001g0052 a0003c0020t0001g0028 a0004c0005t0008g0007 a0004c0005t0008g0053 a0004c0005t0009g0094 a0004c0005t0009g0107 a0004c0005t0013g0018 a0004c0005t0032g0091 a0005c0007t0026g0123 a0006c0014t0037g0171 a0007c0010t0003g0162 a0008c0013t0008g0073 a0009c0034t0003g0070 a0010c0017t0003g0111 a0013c0024t0001g0019 a0016c0019t0008g0020	55	186	0.2957	29	c.113 others(50): Show c.1136-58908_1136-58907insCGTTTGTGGGAATTTGTTACGGCA GCCCC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508438	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	186	0.0054	29	c.113 others(50): Show c.1136-12047_1136-12019dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01169.hp1 HG02080.hp2 others(1): Show HG00323.hp2 HG01169.hp1 HG02080.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0065 a0001c0003t0001g0108 a0001c0003t0001g0130 others(1): Show a0001c0003t0001g0065 a0001c0003t0001g0108 a0001c0003t0001g0130 a0001c0003t0006g0231	4	299	0.0134	29	c.508 others(48): Show c.5080-1147_5080-1146insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19043.hp2 NA18954.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0005 a0001c0010t0001 a0001c0004t0005 a0001c0010t0001	a0001c0004t0005g0090 a0001c0010t0001g0260 a0001c0004t0005g0090 a0001c0010t0001g0260	2	299	0.0067	29	c.507 others(48): Show c.5079+5239_5079+5240insAAAAAAATATATATATATATATATAT ATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(22): Show TTTTATATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18999.hp1 NA19078.hp1 NA18991.hp1 NA18999.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0181 a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0181	3	299	0.0100	29	c.38+ others(46): Show c.38+15957_38+15958insTATATATATATAATATATATATATATAA A	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACAN_chr15_88798436_88880353	88802715	G G	GGAAACGG others(22): Show GGAAACGGTATTAAAGAGTACTGTAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0014 a0014	a0014c0153 a0014c0153	a0014c0153t0001 a0014c0153t0001	a0014c0153t0001g0026 a0014c0153t0001g0026	1	368	0.0027	29	c.-11 others(40): Show c.-1102_-1101insGAAACGGTATTAAAGAGTACTGTAGAGAC	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding		720		chr15	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18963.hp1 NA18995.hp2 others(2): Show NA18950.hp1 NA18963.hp1 NA18995.hp2 NA19068.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0115 a0001c0001t0001g0116 a0002c0002t0002g0286 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0292	5	386	0.0130	29	c.73- others(42): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACLY_chr17_41861918_41923951	41900069	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03490.hp2 HG01346.hp1 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0285 a0002c0002t0003g0290 a0002c0002t0003g0285 a0002c0002t0003g0290	2	294	0.0068	29	c.118 others(48): Show c.1184-1285_1184-1284insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	11/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(22): Show ATTATTATTATTATTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	382	0.0026	29	c.850 others(48): Show c.850-12093_850-12092insATTATTATTATTATTTTTTTTTTTTT TTT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01192.hp1 HG01346.hp1 others(9): Show HG00639.hp1 HG01192.hp1 HG01346.hp1 HG01943.hp1 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02738.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0002t0001g0004 others(2): Show a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0062	12	434	0.0277	29	c.-43 others(40): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOX1_chr17_75936507_75984166	75968435	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03195.hp2 HG02723.hp1 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0129 a0001c0004t0008g0130 a0001c0004t0008g0129 a0001c0004t0008g0130	2	344	0.0058	29	c.270 others(46): Show c.270-8061_270-8060insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOXL_chr2_110727573_111123548	110868641	T T	TGCACTGG others(22): Show TGCACTGGTGCAACCCCAGATCACTGCAGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	150	0.0067	29	c.788 others(48): Show c.788+27254_788+27255insATCACTGCAGCGCACTGGTGCAACCC CAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP3_chr3_132312407_132363841	132325619	C C	CACACACA others(22): Show CACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0096 a0001c0002t0034g0096	1	368	0.0027	29	c.121 others(46): Show c.121-2648_121-2647insACACACACACACACACACACACACACAC A	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9			chr3	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	444	0.0023	29	c.735 others(44): Show c.735+236_735+237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	364	0.0028	29	c.159 others(46): Show c.1593+778_1593+779insTATATATATATATATATATATATATATA T	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar

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