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
ACACA_chr17_37079992_37411836	37081323	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00642.hp2 others(16): Show HG00323.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01099.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG03239.hp2 NA18954.hp1 NA18972.hp1 NA18977.hp2 NA19009.hp2 NA19062.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0142 a0001c0001t0001g0212 a0001c0001t0001g0216 others(16): Show a0001c0001t0001g0142 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0004g0085 a0001c0001t0004g0115 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0188	19	299	0.0636	14	c.59 others(25): Show c.5992_*5993insACACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding		3668		chr17	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01952.hp2 HG01981.hp1 others(11): Show HG00735.hp1 HG01952.hp2 HG01981.hp1 HG02698.hp1 HG02809.hp1 HG02976.hp1 HG03516.hp2 HG04184.hp2 NA18969.hp2 NA18977.hp2 NA18979.hp1 NA19056.hp2 NA19057.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0034 a0001c0003t0003	a0001c0001t0001g0136 a0001c0001t0001g0203 a0001c0001t0001g0205 others(11): Show a0001c0001t0001g0136 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0293 a0001c0001t0004g0160 a0001c0002t0001g0243 a0001c0002t0034g0297 a0001c0003t0003g0238 a0001c0003t0003g0279	14	299	0.0468	14	c.508 others(33): Show c.5080-1160_5080-1147dupTTTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03195.hp1 NA18999.hp2 HG02015.hp1 HG03195.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0025 a0001c0002t0001 a0001c0002t0025	a0001c0002t0001g0101 a0001c0002t0001g0286 a0001c0002t0025g0251 a0001c0002t0001g0101 a0001c0002t0001g0286 a0001c0002t0025g0251	3	299	0.0100	14	c.507 others(33): Show c.5079+5239_5079+5240insAATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18984.hp1 NA19090.hp1 HG01123.hp2 NA18984.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0004g0165 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0004g0165	3	299	0.0100	14	c.507 others(33): Show c.5079+5239_5079+5240insAAAAAAAAAATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATTTTT others(7): Show ATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0207 a0001c0001t0006g0207	1	299	0.0033	14	c.507 others(33): Show c.5079+5239_5079+5240insAAAAAAAAAAAATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37177269	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA20129.hp2 HG02572.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0269 a0001c0002t0008g0043 a0001c0002t0001g0269 a0001c0002t0008g0043	2	299	0.0067	14	c.507 others(33): Show c.5079+1977_5079+1990dupACACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37202668	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	299	0.0033	14	c.405 others(33): Show c.4057-2199_4057-2186dupATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	33/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268741	C C	CTATCTAT others(7): Show CTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	299	0.0033	14	c.111 others(33): Show c.1119+2009_1119+2010insTAGATAGATAGATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37280730	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0120 a0001c0004t0005g0120	1	299	0.0033	14	c.610 others(31): Show c.610+2523_610+2536dupGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	5/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37291143	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02109.hp2 HG02293.hp1 others(5): Show HG01070.hp1 HG02109.hp2 HG02293.hp1 HG03098.hp1 HG03098.hp2 HG03471.hp1 NA18906.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0035 a0001c0004t0005	a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0292 others(5): Show a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0292 a0001c0001t0007g0140 a0001c0001t0007g0275 a0001c0001t0009g0024 a0001c0001t0035g0299 a0001c0004t0005g0040	8	299	0.0268	14	c.339 others(31): Show c.339-6187_339-6174dupGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37316302	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02280.hp1 HG02486.hp1 others(2): Show HG00738.hp1 HG02280.hp1 HG02486.hp1 NA18964.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0179 a0001c0001t0001g0206 a0001c0001t0003g0045 others(2): Show a0001c0001t0001g0179 a0001c0001t0001g0206 a0001c0001t0003g0045 a0001c0001t0004g0169 a0001c0001t0006g0189	5	299	0.0167	14	c.338 others(33): Show c.338+13857_338+13870dupGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37364598	A A	AAAAAAAA others(7): Show AAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01358.hp2 others(54): Show HG00733.hp1 HG01109.hp1 HG01358.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA18966.hp1 NA18970.hp1 NA18980.hp2 NA18991.hp1 NA18999.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA19078.hp1 NA19085.hp1 NA19240.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0003t0003 a0001c0004t0005 a0001c0004t0031 a0001c0004t0033 a0001c0006t0005 a0001c0007t0003 a0003c0008t0003	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(54): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0003g0041 a0001c0001t0003g0045 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0081 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0003g0112 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0011g0094 a0001c0001t0011g0105 a0001c0001t0018g0002 a0001c0001t0028g0264 a0001c0001t0032g0296 a0001c0001t0035g0299 a0001c0003t0003g0092 a0001c0003t0003g0279 a0001c0004t0005g0040 a0001c0004t0005g0044 a0001c0004t0005g0087 a0001c0004t0005g0090 a0001c0004t0005g0117 a0001c0004t0005g0120 a0001c0004t0005g0125 a0001c0004t0005g0137 a0001c0004t0005g0153 a0001c0004t0005g0158 a0001c0004t0005g0190 a0001c0004t0005g0192 a0001c0004t0005g0268 a0001c0004t0005g0276 a0001c0004t0005g0277 a0001c0004t0031g0129 a0001c0004t0033g0298 a0001c0006t0005g0119 a0001c0007t0003g0067 a0003c0008t0003g0248	57	299	0.1906	14	c.39- others(31): Show c.39-24762_39-24749dupCTTTTTCTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390140	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	299	0.0033	14	c.38+ others(31): Show c.38+16108_38+16121dupTATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATACA others(7): Show TATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	299	0.0033	14	c.38+ others(31): Show c.38+16086_38+16087insGTGTGTGTGTATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(7): Show TATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02896.hp1 HG00099.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0177 a0001c0001t0003g0041 a0001c0001t0001g0177 a0001c0001t0003g0041	2	299	0.0067	14	c.38+ others(31): Show c.38+16086_38+16087insGTGTGTGTATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390175	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp2 NA18939.hp2 others(4): Show HG02630.hp1 HG02630.hp2 NA18939.hp2 NA18946.hp2 NA18966.hp1 NA18972.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0003t0001 a0001c0003t0030 a0001c0007t0003	a0001c0001t0001g0083 a0001c0001t0007g0093 a0001c0001t0011g0105 others(4): Show a0001c0001t0001g0083 a0001c0001t0007g0093 a0001c0001t0011g0105 a0001c0003t0001g0056 a0001c0003t0001g0078 a0001c0003t0030g0057 a0001c0007t0003g0067	7	299	0.0234	14	c.38+ others(31): Show c.38+16086_38+16087insGTGTATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390322	A A	ATATATCT others(7): Show ATATATCTATATATC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19066.hp2 NA18946.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0001g0059 a0001c0001t0001g0083	2	299	0.0067	14	c.38+ others(31): Show c.38+15939_38+15940insGATATATAGATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(7): Show ATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	299	0.0033	14	c.38+ others(31): Show c.38+15931_38+15932insGATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATCT others(7): Show ATATATCTATATATC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	299	0.0033	14	c.38+ others(31): Show c.38+15931_38+15932insGATATATAGATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109133836	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02809.hp1 others(1): Show HG01109.hp2 HG02258.hp1 HG02809.hp1 NA19009.hp2	a0002 a0006 a0002 a0006	a0002c0118 a0006c0026 a0006c0031 others(1): Show a0002c0118 a0006c0026 a0006c0031 a0006c0120	a0002c0118t0005 a0006c0026t0002 a0006c0031t0004 others(1): Show a0002c0118t0005 a0006c0026t0002 a0006c0031t0004 a0006c0120t0003	a0002c0118t0005g0231 a0006c0026t0002g0155 a0006c0031t0004g0002 others(1): Show a0002c0118t0005g0231 a0006c0026t0002g0155 a0006c0031t0004g0002 a0006c0120t0003g0043	4	308	0.0130	14	c.-9- others(29): Show c.-9-5546_-9-5533dupATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GCATATAT others(7): Show GCATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02258.hp1 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0064 a0002c0118 a0001c0064 a0002c0118	a0001c0064t0009 a0002c0118t0005 a0001c0064t0009 a0002c0118t0005	a0001c0064t0009g0184 a0002c0118t0005g0231 a0001c0064t0009g0184 a0002c0118t0005g0231	2	308	0.0065	14	c.787 others(29): Show c.787-275_787-274insCATATATATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG02056.hp1 others(9): Show HG00280.hp2 HG00438.hp2 HG02056.hp1 HG02145.hp2 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03654.hp2 NA18955.hp2 NA19080.hp1 NA19091.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0029 a0038	a0001c0002 a0001c0013 a0001c0016 others(7): Show a0001c0002 a0001c0013 a0001c0016 a0001c0032 a0001c0038 a0001c0087 a0002c0020 a0007c0037 a0029c0085 a0038c0082	a0001c0002t0001 a0001c0013t0001 a0001c0016t0009 others(7): Show a0001c0002t0001 a0001c0013t0001 a0001c0016t0009 a0001c0032t0004 a0001c0038t0001 a0001c0087t0001 a0002c0020t0003 a0007c0037t0004 a0029c0085t0003 a0038c0082t0002	a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0013t0001g0256 others(9): Show a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0013t0001g0256 a0001c0016t0009g0287 a0001c0032t0004g0291 a0001c0032t0004g0292 a0001c0038t0001g0201 a0001c0087t0001g0236 a0002c0020t0003g0232 a0007c0037t0004g0200 a0029c0085t0003g0238 a0038c0082t0002g0127	12	308	0.0390	14	c.787 others(29): Show c.787-255_787-242dupATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0005 a0002c0053t0005	a0002c0053t0005g0033 a0002c0053t0005g0033	1	308	0.0033	14	c.787 others(29): Show c.787-274_787-273insGTATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109167643	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02723.hp1 HG01943.hp2 HG02723.hp1	a0001 a0001	a0001c0054 a0001c0095 a0001c0054 a0001c0095	a0001c0054t0001 a0001c0095t0001 a0001c0054t0001 a0001c0095t0001	a0001c0054t0001g0203 a0001c0095t0001g0133 a0001c0054t0001g0203 a0001c0095t0001g0133	2	308	0.0065	14	c.787 others(29): Show c.787-242_787-241insATTTATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109194512	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp1 HG03516.hp1 others(1): Show HG02965.hp1 HG03130.hp1 HG03516.hp1 NA18522.hp1	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0004 a0001c0016 a0002c0070 others(1): Show a0001c0004 a0001c0016 a0002c0070 a0021c0068	a0001c0004t0017 a0001c0016t0011 a0002c0070t0005 others(1): Show a0001c0004t0017 a0001c0016t0011 a0002c0070t0005 a0021c0068t0001	a0001c0004t0017g0003 a0001c0016t0011g0274 a0002c0070t0005g0199 others(1): Show a0001c0004t0017g0003 a0001c0016t0011g0274 a0002c0070t0005g0199 a0021c0068t0001g0202	4	308	0.0130	14	c.248 others(31): Show c.2481+807_2481+820dupGTGTGTGTGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	16/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109206428	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03139.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2	a0001 a0001	a0001c0016 a0001c0032 a0001c0016 a0001c0032	a0001c0016t0009 a0001c0032t0004 a0001c0016t0009 a0001c0032t0004	a0001c0016t0009g0287 a0001c0032t0004g0291 a0001c0032t0004g0292 a0001c0016t0009g0287 a0001c0032t0004g0291 a0001c0032t0004g0292	3	308	0.0097	14	c.291 others(31): Show c.2914-279_2914-266dupAAAAAAAAAAAAAA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	19/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210004	T T	TACGTATA others(7): Show TACGTATATACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0005 a0002c0070t0005	a0002c0070t0005g0199 a0002c0070t0005g0199	1	308	0.0033	14	c.324 others(31): Show c.3249+651_3249+652insACGTATATACACAC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109210036	T T	TATATACA others(7): Show TATATACACACGTAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02723.hp1 others(11): Show HG01891.hp1 HG02257.hp1 HG02723.hp1 HG02809.hp1 HG02897.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA20300.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0015 a0032	a0001c0039 a0001c0069 a0001c0074 others(9): Show a0001c0039 a0001c0069 a0001c0074 a0001c0095 a0001c0107 a0001c0124 a0002c0092 a0006c0031 a0006c0122 a0007c0104 a0015c0114 a0032c0059	a0001c0039t0004 a0001c0069t0002 a0001c0074t0004 others(10): Show a0001c0039t0004 a0001c0069t0002 a0001c0074t0004 a0001c0095t0001 a0001c0107t0012 a0001c0124t0012 a0002c0092t0010 a0006c0031t0004 a0006c0031t0013 a0006c0122t0004 a0007c0104t0004 a0015c0114t0004 a0032c0059t0002	a0001c0039t0004g0116 a0001c0069t0002g0204 a0001c0074t0004g0229 others(11): Show a0001c0039t0004g0116 a0001c0069t0002g0204 a0001c0074t0004g0229 a0001c0095t0001g0133 a0001c0107t0012g0196 a0001c0124t0012g0197 a0002c0092t0010g0192 a0006c0031t0004g0002 a0006c0031t0004g0206 a0006c0031t0013g0205 a0006c0122t0004g0167 a0007c0104t0004g0183 a0015c0114t0004g0009 a0032c0059t0002g0038	14	308	0.0455	14	c.324 others(31): Show c.3249+687_3249+688insACACACGTACATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210079	A A	ACACACGT others(7): Show ACACACGTACATATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0005 a0002c0070t0005	a0002c0070t0005g0199 a0002c0070t0005g0199	1	308	0.0033	14	c.324 others(31): Show c.3249+726_3249+727insCACACGTACATATG	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109210165	A A	ATATGTGT others(7): Show ATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0004 a0001c0039t0004	a0001c0039t0004g0039 a0001c0039t0004g0039	1	308	0.0033	14	c.324 others(31): Show c.3249+813_3249+814insATGTGTATATATGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01515.hp2 HG01884.hp1 others(13): Show HG00558.hp2 HG01515.hp2 HG01884.hp1 HG02027.hp1 HG02074.hp1 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 NA18950.hp2 NA18984.hp2 NA18987.hp1 NA19085.hp2 NA20752.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0017 a0023 a0032	a0001c0002 a0001c0003 a0001c0011 others(9): Show a0001c0002 a0001c0003 a0001c0011 a0001c0023 a0001c0049 a0001c0106 a0002c0006 a0002c0028 a0004c0008 a0017c0123 a0023c0099 a0032c0059	a0001c0002t0001 a0001c0003t0002 a0001c0011t0001 others(10): Show a0001c0002t0001 a0001c0003t0002 a0001c0011t0001 a0001c0011t0008 a0001c0023t0001 a0001c0049t0004 a0001c0106t0001 a0002c0006t0003 a0002c0028t0003 a0004c0008t0001 a0017c0123t0015 a0023c0099t0001 a0032c0059t0002	a0001c0002t0001g0283 a0001c0003t0002g0077 a0001c0011t0001g0056 others(13): Show a0001c0002t0001g0283 a0001c0003t0002g0077 a0001c0011t0001g0056 a0001c0011t0008g0018 a0001c0023t0001g0100 a0001c0023t0001g0122 a0001c0049t0004g0088 a0001c0106t0001g0293 a0002c0006t0003g0107 a0002c0006t0003g0111 a0002c0028t0003g0179 a0002c0028t0003g0228 a0004c0008t0001g0198 a0017c0123t0015g0058 a0023c0099t0001g0084 a0032c0059t0002g0038	16	308	0.0520	14	c.678 others(31): Show c.6787+501_6787+514dupATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTTTATAT others(7): Show TTTTATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 NA18994.hp1 others(2): Show HG01433.hp2 HG02145.hp1 NA18994.hp1 NA18998.hp2 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0001c0018 a0001c0045 others(2): Show a0001c0003 a0001c0018 a0001c0045 a0001c0046 a0007c0101	a0001c0003t0002 a0001c0018t0002 a0001c0045t0002 others(2): Show a0001c0003t0002 a0001c0018t0002 a0001c0045t0002 a0001c0046t0002 a0007c0101t0002	a0001c0003t0002g0099 a0001c0018t0002g0049 a0001c0045t0002g0234 others(2): Show a0001c0003t0002g0099 a0001c0018t0002g0049 a0001c0045t0002g0234 a0001c0046t0002g0190 a0007c0101t0002g0086	5	308	0.0162	14	c.678 others(31): Show c.6787+482_6787+483insTTATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111700744	T T	TTCCTTCC others(7): Show TTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0324 a0002c0003t0003g0324	1	336	0.0030	14	c.188 others(31): Show c.188-1418_188-1417insTCCTTCCTTCCTTC	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	2/20			chr12	TogoVar
ACAD11_chr3_132553141_132664809	132568801	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19067.hp2 HG02738.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0281 a0001c0004t0002g0028 a0001c0001t0002g0281 a0001c0004t0002g0028	2	316	0.0063	14	c.200 others(33): Show c.2001+6957_2001+6970dupTTTTTTTTTTTTTT	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	17/19			chr3	TogoVar
ACAD9_chr3_128874620_128918114	128887644	A A	AATAAATA others(7): Show AATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0190 a0001c0014t0005g0190	1	372	0.0027	14	c.244 others(31): Show c.244+2901_244+2902insAATATATATATATA	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128887644	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	372	0.0027	14	c.244 others(31): Show c.244+2909_244+2922dupATATATATATATAT	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACADL_chr2_210182923_210230447	210214509	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG03239.hp1 others(2): Show HG01243.hp2 HG02145.hp1 HG03239.hp1 HG04228.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0137 a0001c0001t0001g0138 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0186 a0001c0001t0001g0232	5	274	0.0183	14	c.536 others(31): Show c.536+1837_536+1838insCTTTCTTTCTTTCT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADM_chr1_75719709_75768679	75736173	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02896.hp1 HG02897.hp2 others(7): Show HG01074.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 NA18522.hp1 NA19030.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 others(7): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0273	10	364	0.0275	14	c.468 others(31): Show c.468+1321_468+1334dupACACACACACACAC	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75737279	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	364	0.0028	14	c.468 others(31): Show c.468+2443_468+2456dupATATATATATATAT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75753795	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02109.hp1 HG02622.hp1 others(3): Show HG01361.hp1 HG02109.hp1 HG02622.hp1 HG02886.hp2 HG03540.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0005t0001	a0001c0001t0001g0262 a0001c0002t0001g0315 a0001c0002t0001g0333 others(3): Show a0001c0001t0001g0262 a0001c0002t0001g0315 a0001c0002t0001g0333 a0001c0002t0003g0332 a0001c0002t0003g0342 a0001c0005t0001g0323	6	364	0.0165	14	c.945 others(31): Show c.945+3255_945+3268dupTTTTTTTTTTTTTT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75760544	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01433.hp1 others(1): Show HG00140.hp2 HG00323.hp1 HG01433.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0359 others(1): Show a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0359 a0001c0001t0002g0361	4	364	0.0110	14	c.946 others(29): Show c.946-555_946-542dupAAAAAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75764823	C C	CAGGAACA others(7): Show CAGGAACAAAGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01192.hp2 others(31): Show HG00639.hp2 HG01074.hp1 HG01192.hp2 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp1 NA19240.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 others(31): Show a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0006c0008t0001g0251	34	364	0.0934	14	c.20 others(25): Show c.2060_*2061insAGGAACAAAGACCT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding		1145		chr1	TogoVar
ACADSB_chr10_123004006_123063290	123045171	A A	ATATATAT others(7): Show ATATATATTTTATTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0146 a0003c0004t0006g0146	1	374	0.0027	14	c.900 others(29): Show c.900+687_900+688insATATATTTTATTTT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACADSB_chr10_123004006_123063290	123045171	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0189 a0003c0004t0006g0189	1	374	0.0027	14	c.900 others(29): Show c.900+687_900+688insATATATTTTTTTTT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAN_chr15_88798436_88880353	88801586	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG01070.hp1 others(5): Show HG00597.hp1 HG00733.hp2 HG01070.hp1 HG04199.hp2 HG04228.hp1 NA18963.hp2 NA18993.hp1 NA20805.hp2	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0009 a0018 a0032 a0059	a0001c0015 a0002c0001 a0005c0037 others(5): Show a0001c0015 a0002c0001 a0005c0037 a0006c0008 a0009c0013 a0018c0045 a0032c0184 a0059c0077	a0001c0015t0001 a0002c0001t0001 a0005c0037t0001 others(5): Show a0001c0015t0001 a0002c0001t0001 a0005c0037t0001 a0006c0008t0001 a0009c0013t0001 a0018c0045t0001 a0032c0184t0001 a0059c0077t0001	a0001c0015t0001g0008 a0002c0001t0001g0131 a0005c0037t0001g0355 others(5): Show a0001c0015t0001g0008 a0002c0001t0001g0131 a0005c0037t0001g0355 a0006c0008t0001g0354 a0009c0013t0001g0353 a0018c0045t0001g0360 a0032c0184t0001g0358 a0059c0077t0001g0362	8	368	0.0217	14	c.-22 others(25): Show c.-2231_-2230insTTTTTTTTTTTTTT	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding		1849		chr15	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0055 a0001c0002t0004g0055	1	324	0.0031	14	c.176 others(31): Show c.1765+110_1765+111insATATATATTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0031 a0001c0002t0004g0031	1	324	0.0031	14	c.176 others(31): Show c.1765+110_1765+111insATATATATATTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195372987	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp1 HG02129.hp1 others(17): Show HG00735.hp2 HG01346.hp1 HG02129.hp1 HG02257.hp2 HG02451.hp1 HG02717.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03579.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18955.hp2 NA18993.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0036	a0001c0001t0002g0119 a0001c0001t0002g0310 a0001c0001t0002g0311 others(17): Show a0001c0001t0002g0119 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0125 a0001c0001t0003g0135 a0001c0001t0003g0140 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0097 a0001c0001t0008g0109 a0001c0001t0008g0115 a0001c0001t0009g0139 a0001c0001t0012g0134 a0001c0001t0036g0321	20	324	0.0617	14	c.285 others(31): Show c.285+8008_285+8021dupTTTTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195377138	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02135.hp2 HG03831.hp2 others(2): Show HG01123.hp2 HG02135.hp2 HG03831.hp2 NA19009.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0291 others(2): Show a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0291 a0001c0001t0001g0320 a0001c0001t0028g0298	5	324	0.0154	14	c.285 others(31): Show c.285+3857_285+3870dupAAAAAAAAAAAAAA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CTGTGTCT others(7): Show CTGTGTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	295	0.0034	14	c.50 others(25): Show c.5014_*5015insACGGAGCAGACACA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar

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