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
ABCC3_chr17_50629881_50697253	50673980	C C	CCTTCCTT others(7): Show CCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	342	0.0029	14	c.259 others(31): Show c.2599+322_2599+323insCTTCCTTCCTTCCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19011.hp2 HG02886.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0207 a0001c0002t0001g0032 a0001c0001t0001g0207 a0001c0002t0001g0032	2	342	0.0059	14	c.259 others(31): Show c.2599+323_2599+324insTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673986	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	342	0.0029	14	c.259 others(31): Show c.2599+329_2599+330insTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673990	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02155.hp2 HG02717.hp1 others(2): Show HG01346.hp1 HG02155.hp2 HG02717.hp1 HG03098.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0167 a0001c0001t0001g0182 others(2): Show a0001c0001t0001g0143 a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0001g0305 a0001c0001t0001g0312	5	342	0.0146	14	c.259 others(31): Show c.2599+333_2599+334insTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673994	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	342	0.0029	14	c.259 others(31): Show c.2599+337_2599+338insTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50694129	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(79): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18947.hp2 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp2 NA18981.hp1 NA18990.hp2 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19086.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0025	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0026 a0001c0039 a0002c0010 a0004c0023 a0025c0015	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001 a0001c0026t0001 a0001c0039t0001 a0002c0010t0001 a0004c0023t0001 a0025c0015t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 others(79): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0341 a0001c0001t0004g0027 a0001c0003t0001g0336 a0001c0004t0001g0318 a0001c0009t0001g0007 a0001c0009t0001g0101 a0001c0009t0001g0102 a0001c0026t0001g0148 a0001c0039t0001g0126 a0002c0010t0001g0116 a0004c0023t0001g0004 a0025c0015t0001g0328	82	342	0.2398	14	c.29 others(25): Show c.2929_*2930insAAAAAAAAAAAAAA	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding		1877		chr17	TogoVar
ABCC3_chr17_50629881_50697253	50694136	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	342	0.0029	14	c.29 others(25): Show c.2936_*2937insAAAAAAAAAAAAAG	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding		1884		chr17	TogoVar
ABCC4_chr13_95014835_95306451	95054021	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0229 a0001c0007t0002g0229	1	248	0.0040	14	c.336 others(31): Show c.3367-851_3367-838dupAAAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95064297	T T	TATATATA others(7): Show TATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0022 a0001c0022t0022	a0001c0022t0022g0161 a0001c0022t0022g0161	1	248	0.0040	14	c.321 others(33): Show c.3211-1439_3211-1438insGTGTGTATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	25/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95086087	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp1 HG02451.hp1 others(10): Show HG00280.hp2 HG01884.hp1 HG02451.hp1 HG02572.hp1 HG02717.hp2 HG02976.hp2 HG03491.hp2 HG03704.hp1 HG04184.hp2 NA18950.hp1 NA19010.hp2 NA19012.hp2 NA19065.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0021 a0001c0023 a0002c0004 a0003c0029	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0009t0023 a0001c0021t0013 a0001c0023t0006 a0002c0004t0002 a0002c0004t0008 a0003c0029t0001	a0001c0001t0001g0064 a0001c0001t0002g0066 a0001c0001t0002g0080 others(10): Show a0001c0001t0001g0064 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0002t0002g0048 a0001c0003t0002g0076 a0001c0003t0002g0096 a0001c0009t0023g0034 a0001c0021t0013g0015 a0001c0023t0006g0008 a0002c0004t0002g0159 a0002c0004t0002g0234 a0002c0004t0008g0241 a0003c0029t0001g0213	13	248	0.0524	14	c.253 others(33): Show c.2536-2811_2536-2798dupCACACACACACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	20/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95126720	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18952.hp1 NA18959.hp1 others(4): Show HG01891.hp2 NA18952.hp1 NA18959.hp1 NA18983.hp2 NA18994.hp2 NA19056.hp1 NA19088.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0002c0004 others(3): Show a0001c0001 a0001c0003 a0002c0004 a0002c0061 a0004c0006 a0005c0019	a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 a0002c0061t0003 a0004c0006t0001 a0005c0019t0002	a0001c0001t0001g0063 a0001c0003t0001g0225 a0002c0004t0001g0140 others(4): Show a0001c0001t0001g0063 a0001c0003t0001g0225 a0002c0004t0001g0140 a0002c0061t0003g0055 a0004c0006t0001g0157 a0005c0019t0002g0215 a0005c0019t0002g0223	7	248	0.0282	14	c.245 others(35): Show c.2456-10733_2456-10720dupATATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95126734	T T	TATATATA others(7): Show TATATATATTCCAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02630.hp2 others(5): Show HG02145.hp1 HG02559.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02922.hp1 HG03139.hp1 NA19240.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0026 a0001c0045 a0001c0046 others(4): Show a0001c0026 a0001c0045 a0001c0046 a0001c0050 a0002c0005 a0002c0028 a0015c0062	a0001c0026t0005 a0001c0045t0001 a0001c0046t0001 others(4): Show a0001c0026t0005 a0001c0045t0001 a0001c0046t0001 a0001c0050t0005 a0002c0005t0013 a0002c0028t0005 a0015c0062t0003	a0001c0026t0005g0050 a0001c0026t0005g0133 a0001c0045t0001g0129 others(5): Show a0001c0026t0005g0050 a0001c0026t0005g0133 a0001c0045t0001g0129 a0001c0046t0001g0078 a0001c0050t0005g0038 a0002c0005t0013g0060 a0002c0028t0005g0059 a0015c0062t0003g0013	8	248	0.0323	14	c.245 others(35): Show c.2456-10734_2456-10733insTTTGGAATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95157088	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19011.hp2 HG03041.hp1 NA19011.hp2	a0001 a0003 a0001 a0003	a0001c0024 a0003c0008 a0001c0024 a0003c0008	a0001c0024t0001 a0003c0008t0002 a0001c0024t0001 a0003c0008t0002	a0001c0024t0001g0118 a0003c0008t0002g0207 a0001c0024t0001g0118 a0003c0008t0002g0207	2	248	0.0081	14	c.245 others(33): Show c.2455+4087_2455+4100dupTGTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95159093	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02155.hp2 HG03471.hp2 others(1): Show HG01261.hp1 HG02155.hp2 HG03471.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0011 a0002c0004 others(1): Show a0001c0002 a0001c0011 a0002c0004 a0002c0020	a0001c0002t0001 a0001c0011t0008 a0002c0004t0008 others(1): Show a0001c0002t0001 a0001c0011t0008 a0002c0004t0008 a0002c0020t0004	a0001c0002t0001g0110 a0001c0011t0008g0244 a0002c0004t0008g0241 others(1): Show a0001c0002t0001g0110 a0001c0011t0008g0244 a0002c0004t0008g0241 a0002c0020t0004g0016	4	248	0.0161	14	c.245 others(33): Show c.2455+2082_2455+2095dupTATATATATATATA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95159450	A A	AGATTAGT others(7): Show AGATTAGTCACCTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	248	0.0040	14	c.245 others(33): Show c.2455+1725_2455+1738dupGGAGGTGACTAATC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244601	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0122 a0002c0004t0010g0122	1	248	0.0040	14	c.306 others(31): Show c.306+2360_306+2373dupTTCTTTCTTTCTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244663	A A	AGGAAGGA others(7): Show AGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0248 a0001c0001t0008g0248	1	248	0.0040	14	c.306 others(31): Show c.306+2311_306+2312insCTTTCTTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95286123	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(83): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp2 HG02080.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG02965.hp1 HG03017.hp2 HG03209.hp2 HG03471.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18994.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19074.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0013	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0021 a0001c0022 a0001c0036 a0001c0052 a0001c0055 a0001c0068 a0002c0004 a0002c0005 a0002c0020 a0002c0063 a0002c0064 a0003c0008 a0003c0016 a0003c0029 a0004c0006 a0004c0030 a0005c0018 a0005c0019 a0006c0038 a0007c0069 a0007c0070 a0008c0032 a0013c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0003t0014 a0001c0003t0025 a0001c0007t0002 a0001c0010t0007 a0001c0011t0002 a0001c0013t0004 a0001c0014t0007 a0001c0021t0013 a0001c0022t0022 a0001c0036t0001 a0001c0052t0002 a0001c0055t0001 a0001c0068t0003 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002 a0002c0020t0004 a0002c0063t0001 a0002c0064t0006 a0003c0008t0001 a0003c0008t0002 a0003c0008t0010 a0003c0016t0001 a0003c0016t0002 a0003c0029t0001 a0003c0029t0002 a0004c0006t0001 a0004c0006t0015 a0004c0030t0002 a0005c0018t0001 a0005c0018t0002 a0005c0019t0002 a0006c0038t0002 a0007c0069t0009 a0007c0070t0005 a0008c0032t0001 a0013c0048t0021	a0001c0001t0001g0064 a0001c0001t0001g0103 a0001c0001t0001g0126 others(83): Show a0001c0001t0001g0064 a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0002g0066 a0001c0001t0002g0160 a0001c0001t0002g0197 a0001c0001t0006g0028 a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0002g0048 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0190 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0014g0184 a0001c0002t0018g0183 a0001c0003t0001g0098 a0001c0003t0001g0134 a0001c0003t0001g0155 a0001c0003t0002g0076 a0001c0003t0002g0179 a0001c0003t0002g0231 a0001c0003t0010g0210 a0001c0003t0014g0082 a0001c0003t0025g0243 a0001c0007t0002g0185 a0001c0007t0002g0219 a0001c0007t0002g0227 a0001c0010t0007g0167 a0001c0010t0007g0180 a0001c0011t0002g0202 a0001c0013t0004g0042 a0001c0014t0007g0172 a0001c0021t0013g0015 a0001c0022t0022g0161 a0001c0036t0001g0164 a0001c0052t0002g0068 a0001c0055t0001g0033 a0001c0068t0003g0007 a0002c0004t0001g0140 a0002c0004t0001g0147 a0002c0004t0001g0182 a0002c0004t0002g0193 a0002c0004t0002g0222 a0002c0004t0002g0234 a0002c0005t0001g0102 a0002c0005t0002g0093 a0002c0005t0002g0146 a0002c0005t0002g0152 a0002c0005t0002g0239 a0002c0020t0004g0057 a0002c0063t0001g0070 a0002c0064t0006g0045 a0003c0008t0001g0208 a0003c0008t0002g0207 a0003c0008t0010g0214 a0003c0016t0001g0200 a0003c0016t0002g0228 a0003c0029t0001g0213 a0003c0029t0002g0204 a0004c0006t0001g0136 a0004c0006t0001g0137 a0004c0006t0001g0157 a0004c0006t0001g0192 a0004c0006t0015g0105 a0004c0030t0002g0156 a0005c0018t0001g0212 a0005c0018t0002g0236 a0005c0019t0002g0215 a0006c0038t0002g0145 a0007c0069t0009g0043 a0007c0070t0005g0054 a0008c0032t0001g0004 a0013c0048t0021g0162	86	248	0.3468	14	c.74+ others(31): Show c.74+15104_74+15117dupAAAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95290997	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19005.hp1 NA19009.hp2 others(2): Show NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19074.hp2 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017 a0003c0008	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0017t0002 a0003c0008t0001	a0001c0001t0002g0106 a0001c0002t0002g0116 a0001c0003t0002g0114 others(2): Show a0001c0001t0002g0106 a0001c0002t0002g0116 a0001c0003t0002g0114 a0001c0017t0002g0115 a0003c0008t0001g0208	5	248	0.0202	14	c.74+ others(31): Show c.74+10243_74+10244insTTTTTTTTTTTTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95291009	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(52): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01981.hp2 HG02071.hp1 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp2 HG03017.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp2 NA18747.hp2 NA18950.hp2 NA18952.hp1 NA18968.hp1 NA18969.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA19002.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0013 a0016	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0014 a0001c0022 a0001c0052 a0001c0055 a0002c0004 a0002c0005 a0002c0063 a0003c0016 a0003c0029 a0004c0006 a0004c0030 a0005c0018 a0005c0019 a0013c0048 a0016c0073	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0018 a0001c0003t0014 a0001c0007t0001 a0001c0007t0002 a0001c0011t0002 a0001c0014t0007 a0001c0022t0022 a0001c0052t0002 a0001c0055t0001 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002 a0002c0063t0001 a0003c0016t0001 a0003c0029t0001 a0004c0006t0001 a0004c0006t0015 a0004c0030t0002 a0005c0018t0001 a0005c0019t0002 a0013c0048t0021 a0016c0073t0001	a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0163 others(52): Show a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0220 a0001c0001t0002g0160 a0001c0001t0002g0197 a0001c0001t0002g0203 a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0001t0020g0168 a0001c0002t0001g0139 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0190 a0001c0002t0002g0196 a0001c0002t0014g0184 a0001c0002t0018g0183 a0001c0003t0014g0082 a0001c0007t0001g0237 a0001c0007t0002g0185 a0001c0011t0002g0101 a0001c0014t0007g0170 a0001c0014t0007g0172 a0001c0014t0007g0191 a0001c0022t0022g0161 a0001c0052t0002g0068 a0001c0055t0001g0033 a0002c0004t0001g0182 a0002c0004t0002g0193 a0002c0004t0002g0222 a0002c0005t0001g0102 a0002c0005t0002g0092 a0002c0005t0002g0093 a0002c0005t0002g0146 a0002c0063t0001g0070 a0003c0016t0001g0200 a0003c0029t0001g0213 a0004c0006t0001g0104 a0004c0006t0015g0105 a0004c0030t0002g0069 a0005c0018t0001g0212 a0005c0019t0002g0215 a0013c0048t0021g0162 a0016c0073t0001g0186	55	248	0.2218	14	c.74+ others(31): Show c.74+10231_74+10232insCTTTTTTTTTTTTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC5_chr3_183914934_184022884	183959052	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	378	0.0027	14	c.248 others(31): Show c.2482+667_2482+680dupGTGTGTGTGTGTGT	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
ABCC5_chr3_183914934_184022884	184012014	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 NA18939.hp1 others(6): Show HG00621.hp2 HG00738.hp1 NA18939.hp1 NA18957.hp2 NA18971.hp1 NA18986.hp1 NA18998.hp2 NA19074.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(5): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0003g0006 a0001c0001t0003g0204 a0001c0001t0005g0011 a0001c0002t0001g0150	9	378	0.0238	14	c.129 others(31): Show c.129+2236_129+2249dupGTGTGTGTGTGTGT	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	2/29			chr3	TogoVar
ABCC6_chr16_16144565_16228494	16149370	A A	AAAATACA others(7): Show AAAATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02056.hp2 HG03492.hp2 others(1): Show HG00597.hp1 HG02056.hp2 HG03492.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0001t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0169 a0001c0001t0001g0226 a0001c0004t0001g0208 others(1): Show a0001c0001t0001g0169 a0001c0001t0001g0226 a0001c0004t0001g0208 a0001c0006t0001g0329	4	357	0.0112	14	c.76 others(23): Show c.762_*763insGTGTGTGTGTATTT	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding		194		chr16	TogoVar
ABCC6_chr16_16144565_16228494	16149372	T T	TACACACA others(7): Show TACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0008 a0012c0025t0001g0008	1	357	0.0028	14	c.76 others(23): Show c.760_*761insGTGTGTGTGTGTGT	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding		192		chr16	TogoVar
ABCC6_chr16_16144565_16228494	16174759	A A	ACCCCCCC others(7): Show ACCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18612.hp2 HG03831.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0308 a0001c0001t0001g0269 a0001c0001t0001g0308	2	357	0.0056	14	c.266 others(33): Show c.2666+1151_2666+1152insGGGGGGGGGGGGGG	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	20/30			chr16	TogoVar
ABCC8_chr11_17387885_17481845	17434984	C C	CGCGTGTG others(7): Show CGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG04228.hp1 HG03579.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0045 a0001c0008 a0002c0045	a0001c0008t0001 a0002c0045t0001 a0001c0008t0001 a0002c0045t0001	a0001c0008t0001g0165 a0002c0045t0001g0085 a0001c0008t0001g0165 a0002c0045t0001g0085	2	330	0.0061	14	c.163 others(33): Show c.1631-2741_1631-2740insACACACACACACGC	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17434984	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19065.hp1 NA19058.hp1 NA19065.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0064 a0001c0013t0001g0247 a0001c0013t0001g0064 a0001c0013t0001g0247	2	330	0.0061	14	c.163 others(33): Show c.1631-2754_1631-2741dupACACACACACACAC	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17467042	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01258.hp1 HG02083.hp1 others(4): Show HG00140.hp1 HG01258.hp1 HG02083.hp1 HG02083.hp2 HG02155.hp1 NA18612.hp2 NA18948.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0007 a0001c0019 a0001c0023 others(2): Show a0001c0007 a0001c0019 a0001c0023 a0002c0005 a0011c0052	a0001c0007t0001 a0001c0019t0001 a0001c0023t0001 others(2): Show a0001c0007t0001 a0001c0019t0001 a0001c0023t0001 a0002c0005t0001 a0011c0052t0001	a0001c0007t0001g0131 a0001c0007t0001g0310 a0001c0019t0001g0121 others(4): Show a0001c0007t0001g0131 a0001c0007t0001g0310 a0001c0019t0001g0121 a0001c0023t0001g0031 a0002c0005t0001g0120 a0002c0005t0001g0122 a0011c0052t0001g0281	7	330	0.0212	14	c.412 others(31): Show c.412+3045_412+3058dupTGTGTGTGTGTGTG	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	3/38			chr11	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0209 a0001c0003t0009g0209	1	212	0.0047	14	c.816 others(29): Show c.816+153_816+154insAAAAAAAAAATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02129.hp2 HG03704.hp2 others(6): Show HG00408.hp2 HG02129.hp2 HG03704.hp2 NA18522.hp2 NA18612.hp2 NA18960.hp1 NA18967.hp2 NA18982.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0040 a0001c0001t0001g0131 a0001c0001t0001g0137 others(6): Show a0001c0001t0001g0040 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0167 a0001c0001t0017g0143	9	212	0.0425	14	c.816 others(29): Show c.816+140_816+153dupAAAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21928346	A A	AAAAGAGA others(7): Show AAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	212	0.0047	14	c.285 others(31): Show c.285-2297_285-2284dupCTTTCTTTCTCTTT	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	4/39			chr12	TogoVar
ABCF3_chr3_184181199_184199005	184197845	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	14	c.41 others(25): Show c.4147_*4148insTGTGTGTGTGTGTG	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding		3841		chr3	TogoVar
ABCG2_chr4_88085269_88163639	88115234	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00642.hp1 others(41): Show HG00099.hp2 HG00323.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01891.hp2 HG02622.hp2 HG02698.hp1 HG02735.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03669.hp2 HG04184.hp2 NA18939.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18988.hp1 NA18995.hp2 NA19056.hp2 NA19062.hp1 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0020 others(40): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0002g0081 a0001c0001t0010g0078	44	350	0.1257	14	c.842 others(29): Show c.842-177_842-176insCAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88117821	C C	CTGAGCTT others(7): Show CTGAGCTTTTAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	350	0.0029	14	c.841 others(29): Show c.841+274_841+287dupTTCTTAAAAGCTCA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG8_chr2_43833971_43887988	43886550	C C	CGTGTGGA others(7): Show CGTGTGGAGAGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0079 a0001c0008t0079	a0001c0008t0079g0073 a0001c0008t0079g0073	1	318	0.0031	14	c.86 others(25): Show c.8637_*8638insGTGTGGAGAGGGCT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		3563		chr2	TogoVar
ABCG8_chr2_43833971_43887988	43887143	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01943.hp1 HG00735.hp1 HG01943.hp1	a0003 a0010 a0003 a0010	a0003c0002 a0010c0013 a0003c0002 a0010c0013	a0003c0002t0002 a0010c0013t0017 a0003c0002t0002 a0010c0013t0017	a0003c0002t0002g0284 a0010c0013t0017g0167 a0003c0002t0002g0284 a0010c0013t0017g0167	2	318	0.0063	14	c.92 others(25): Show c.9230_*9231insAAAAAAAAAAAAAA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		4156		chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870949	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0028 a0001c0006t0013g0028	1	376	0.0027	14	c.-12 others(25): Show c.-1226_-1225insAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1103		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870957	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02258.hp2 HG01070.hp2 HG01071.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0011 a0001c0001t0001g0025	3	376	0.0080	14	c.-12 others(25): Show c.-1218_-1217insAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1095		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870961	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0227 a0003c0003t0001g0227	1	376	0.0027	14	c.-12 others(25): Show c.-1214_-1213insAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1091		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870961	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0175 a0002c0002t0011g0175	1	376	0.0027	14	c.-12 others(25): Show c.-1214_-1213insAGAAAGAAAGAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1091		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870981	A A	AGGAAAGA others(7): Show AGGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0289 a0004c0009t0001g0289	1	376	0.0027	14	c.-11 others(25): Show c.-1194_-1193insGGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1071		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 NA18989.hp1 HG04184.hp1 NA18989.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0003 a0001c0005 a0003c0003	a0001c0005t0004 a0003c0003t0001 a0001c0005t0004 a0003c0003t0001	a0001c0005t0004g0341 a0003c0003t0001g0093 a0001c0005t0004g0341 a0003c0003t0001g0093	2	376	0.0053	14	c.-11 others(25): Show c.-1192_-1191insAAAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAGGAAA others(7): Show GAAGGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03041.hp2 HG03516.hp2 HG02976.hp2 HG03041.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0233 a0001c0006t0001g0176 a0001c0006t0001g0241 a0001c0001t0001g0233 a0001c0006t0001g0176 a0001c0006t0001g0241	3	376	0.0080	14	c.-11 others(25): Show c.-1192_-1191insAAGGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50882373	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp2 HG01891.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0004g0318 a0003c0003t0001g0027 a0001c0001t0004g0318 a0003c0003t0001g0027	2	376	0.0053	14	c.486 others(29): Show c.486+755_486+768dupTTTTTTTTTTTTTT	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50887211	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01952.hp2 others(12): Show HG00423.hp1 HG00423.hp2 HG01952.hp2 HG02071.hp2 HG02572.hp2 HG03486.hp1 HG03516.hp2 HG03927.hp2 NA18949.hp2 NA18954.hp2 NA18966.hp1 NA18966.hp2 NA18984.hp1 NA19074.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0001c0006 a0001c0011 others(2): Show a0001c0005 a0001c0006 a0001c0011 a0002c0004 a0003c0012	a0001c0005t0004 a0001c0006t0001 a0001c0011t0007 others(3): Show a0001c0005t0004 a0001c0006t0001 a0001c0011t0007 a0002c0004t0002 a0002c0004t0005 a0003c0012t0001	a0001c0005t0004g0347 a0001c0006t0001g0241 a0001c0006t0001g0268 others(11): Show a0001c0005t0004g0347 a0001c0006t0001g0241 a0001c0006t0001g0268 a0001c0006t0001g0278 a0001c0011t0007g0114 a0002c0004t0002g0008 a0002c0004t0002g0060 a0002c0004t0002g0089 a0002c0004t0002g0090 a0002c0004t0002g0123 a0002c0004t0002g0147 a0002c0004t0002g0225 a0002c0004t0005g0072 a0003c0012t0001g0131	15	376	0.0399	14	c.700 others(29): Show c.700+532_700+545dupAAAAAAAAAAAAAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD17B_chr9_71860152_71916193	71894087	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	186	0.0054	14	c.-4+ others(31): Show c.-4+16533_-4+16546dupTTTTTTTTTTTTTT	ABHD17B	ENSG00000107362.14	transcript	ENST00000333421.7	protein_coding	1/3			chr9	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(71): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG00609.hp2 HG01934.hp2 HG01952.hp1 HG02015.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18941.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA19001.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0125 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0005g0007 a0001c0001t0005g0275 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0007g0243 a0001c0001t0009g0060	74	360	0.2056	14	c.590 others(31): Show c.590+9335_590+9348dupTGTGTGTGTGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80713354	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	360	0.0028	14	c.590 others(33): Show c.590+17350_590+17363dupTTTTTTTTTTTTTT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80723138	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00673.hp1 others(22): Show HG00323.hp2 HG00621.hp1 HG00673.hp1 HG01123.hp1 HG01515.hp2 HG02004.hp2 HG02109.hp1 HG02129.hp1 HG02698.hp2 HG02735.hp2 HG03490.hp2 HG03492.hp2 NA18962.hp2 NA18983.hp1 NA18989.hp1 NA18995.hp1 NA19000.hp2 NA19011.hp1 NA19030.hp1 NA19062.hp1 NA19066.hp1 NA19075.hp1 NA19078.hp2 NA19080.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0006 a0001c0001t0002g0105 a0001c0001t0002g0112 others(20): Show a0001c0001t0002g0006 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0004g0005 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0098 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0114 a0001c0001t0004g0341 a0001c0001t0007g0243 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0311	25	360	0.0694	14	c.591 others(33): Show c.591-26359_591-26346dupGTGTGTGTGTGTGT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD18_chr4_127960406_128044953	128033524	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18747.hp2 HG00544.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0054 a0002c0002t0001 a0002c0002t0054	a0002c0002t0001g0326 a0002c0002t0054g0275 a0002c0002t0001g0326 a0002c0002t0054g0275	2	344	0.0058	14	c.134 others(33): Show c.1344-2231_1344-2218dupTTTTTTTTTTTTTT	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr4	TogoVar

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