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
B3GNTL1_chr17_82937149_83056770	82970526	A A	AGCGTGGC others(17): Show AGCGTGGCCGCGACCTCCCCACCCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0044 a0001c0006t0033g0044	1	266	0.0038	24	c.460 others(41): Show c.460-4781_460-4780insCGGGTGGGGAGGTCGCGGCCACGC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970592	G G	GCACCCAG others(17): Show GCACCCAGCGTGGACATGACCTCCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0010 a0001c0006t0010g0010	1	266	0.0038	24	c.460 others(41): Show c.460-4847_460-4846insGGGAGGTCATGTCCACGCTGGGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970592	G G	GCACCCAG others(17): Show GCACCCAGTGTGGACATGACCTCCC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0132 a0001c0002t0010g0132	1	266	0.0038	24	c.460 others(41): Show c.460-4847_460-4846insGGGAGGTCATGTCCACACTGGGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970632	C C	CGACCTCC others(17): Show CGACCTCCCCACCCAGCGTGGACGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0198 a0001c0003t0015g0198	1	266	0.0038	24	c.460 others(41): Show c.460-4887_460-4886insACGTCCACGCTGGGTGGGGAGGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970655	G G	GTGACCTC others(17): Show GTGACCTCTGCACACAGCGTGGCCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19240.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0002t0016g0134 a0001c0002t0016g0135	2	266	0.0075	24	c.460 others(41): Show c.460-4910_460-4909insTGGCCACGCTGTGTGCAGAGGTCA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970664	G G	GCACCCAG others(17): Show GCACCCAGTGTGGCCGTGACCTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 NA20129.hp1 HG01243.hp2 HG02559.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0017 a0001c0011t0017 a0001c0001t0002 a0001c0001t0017 a0001c0011t0017	a0001c0001t0002g0178 a0001c0001t0017g0177 a0001c0011t0017g0145 a0001c0001t0002g0178 a0001c0001t0017g0177 a0001c0011t0017g0145	3	266	0.0113	24	c.460 others(41): Show c.460-4919_460-4918insGGGAGGTCACGGCCACACTGGGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83025318	G G	GGAGTCCA others(17): Show GGAGTCCACACACGGACACCGCGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG02132.hp2 others(5): Show HG00438.hp1 HG01891.hp1 HG02132.hp2 HG02165.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0005 a0001c0001 a0001c0014 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0002c0005t0003	a0001c0001t0001g0051 a0001c0001t0001g0179 a0001c0001t0002g0058 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0179 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0014t0001g0012 a0002c0005t0003g0055 a0002c0005t0003g0056 a0002c0005t0003g0057	8	266	0.0301	24	c.297 others(41): Show c.297+9693_297+9716dupTCCGCGGTGTCCGTGTGTGGACTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83025394	G G	GGAGTCCA others(17): Show GGAGTCCACACACGGACACCGCGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0015 a0001c0006t0018g0015	1	266	0.0038	24	c.297 others(41): Show c.297+9617_297+9640dupTCCGCGGTGTCCGTGTGTGGACTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83025470	G G	GGAGTCCA others(17): Show GGAGTCCACACACGGACACCGCGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0015 a0001c0006t0018g0015	1	266	0.0038	24	c.297 others(41): Show c.297+9541_297+9564dupTCCGCGGTGTCCGTGTGTGGACTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83025605	A A	ACACACAC others(17): Show ACACACACGGACACCGCGGAGAGTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0015 a0001c0006t0018g0015	1	266	0.0038	24	c.297 others(41): Show c.297+9406_297+9429dupGACTCTCCGCGGTGTCCGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83045806	C C	CATTTATT others(17): Show CATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02451.hp2 others(2): Show HG01891.hp2 HG02055.hp2 HG02451.hp2 NA19043.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0001c0029 a0003c0030 a0001c0011 a0001c0029 a0003c0030	a0001c0011t0011 a0001c0011t0012 a0001c0029t0001 others(1): Show a0001c0011t0011 a0001c0011t0012 a0001c0029t0001 a0003c0030t0011	a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 others(2): Show a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0001c0029t0001g0141 a0003c0030t0011g0140	5	266	0.0188	24	c.232 others(41): Show c.232+2664_232+2665insAAATAAATAAATAAATAAATAAAT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	459904	C C	CGGGGCGG others(17): Show CGGGGCGGGGGCGGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	394	0.0025	24	c.-47 others(33): Show c.-473_-472insGGGGCGGGGGCGGGGGCGGGGGCG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding		34		chr12	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG02015.hp2 others(1): Show HG00140.hp1 HG00140.hp2 HG02015.hp2 HG03540.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0002 a0002c0003 a0006c0007 others(1): Show a0001c0002 a0002c0003 a0006c0007 a0008c0012	a0001c0002t0073 a0002c0003t0003 a0006c0007t0047 others(1): Show a0001c0002t0073 a0002c0003t0003 a0006c0007t0047 a0008c0012t0010	a0001c0002t0073g0062 a0002c0003t0003g0272 a0006c0007t0047g0167 others(1): Show a0001c0002t0073g0062 a0002c0003t0003g0272 a0006c0007t0047g0167 a0008c0012t0010g0293	4	394	0.0102	24	c.170 others(43): Show c.170-34281_170-34280insTTTTTTTTTTTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511292	G G	GACCTTCC others(17): Show GACCTTCCACCTTCCACCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	394	0.0025	24	c.170 others(43): Show c.170-23854_170-23853insTTCCACCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511301	C C	CCTTCCAC others(17): Show CCTTCCACCTTCTTCCACCTTCGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(177): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0021 a0022	a0001c0001 a0001c0002 a0001c0010 others(26): Show a0001c0001 a0001c0002 a0001c0010 a0001c0039 a0001c0042 a0001c0048 a0002c0003 a0003c0004 a0003c0049 a0004c0005 a0005c0006 a0005c0017 a0005c0025 a0006c0007 a0006c0020 a0006c0023 a0006c0045 a0007c0008 a0008c0012 a0008c0014 a0009c0018 a0010c0011 a0011c0015 a0012c0019 a0013c0021 a0014c0022 a0015c0031 a0021c0040 a0022c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(100): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0045 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0069 a0001c0001t0087 a0001c0001t0091 a0001c0001t0096 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0026 a0001c0002t0036 a0001c0002t0089 a0001c0010t0002 a0001c0039t0002 a0001c0042t0002 a0001c0048t0044 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0012 a0002c0003t0071 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0008 a0003c0004t0016 a0003c0004t0038 a0003c0004t0048 a0003c0004t0066 a0003c0004t0080 a0003c0049t0002 a0004c0005t0003 a0004c0005t0004 a0004c0005t0017 a0004c0005t0051 a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 a0005c0006t0063 a0005c0017t0002 a0005c0025t0002 a0006c0007t0047 a0006c0007t0065 a0006c0007t0067 a0006c0020t0002 a0006c0023t0002 a0006c0045t0003 a0007c0008t0017 a0007c0008t0037 a0008c0012t0010 a0008c0014t0030 a0009c0018t0005 a0010c0011t0005 a0010c0011t0018 a0011c0015t0013 a0012c0019t0002 a0013c0021t0001 a0013c0021t0002 a0014c0022t0010 a0015c0031t0004 a0021c0040t0001 a0022c0043t0004	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(177): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0164 a0001c0001t0001g0242 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0351 a0001c0001t0001g0358 a0001c0001t0001g0368 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0393 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0099 a0001c0001t0002g0126 a0001c0001t0002g0209 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0135 a0001c0001t0003g0154 a0001c0001t0003g0350 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0176 a0001c0001t0004g0214 a0001c0001t0004g0236 a0001c0001t0004g0298 a0001c0001t0005g0007 a0001c0001t0005g0125 a0001c0001t0005g0326 a0001c0001t0005g0380 a0001c0001t0007g0017 a0001c0001t0007g0025 a0001c0001t0007g0030 a0001c0001t0007g0083 a0001c0001t0007g0120 a0001c0001t0007g0289 a0001c0001t0008g0002 a0001c0001t0008g0011 a0001c0001t0008g0271 a0001c0001t0008g0381 a0001c0001t0009g0026 a0001c0001t0009g0028 a0001c0001t0009g0117 a0001c0001t0009g0386 a0001c0001t0011g0107 a0001c0001t0011g0218 a0001c0001t0012g0113 a0001c0001t0012g0353 a0001c0001t0013g0391 a0001c0001t0014g0104 a0001c0001t0014g0255 a0001c0001t0015g0224 a0001c0001t0016g0179 a0001c0001t0016g0282 a0001c0001t0020g0130 a0001c0001t0021g0325 a0001c0001t0023g0102 a0001c0001t0023g0168 a0001c0001t0023g0253 a0001c0001t0024g0055 a0001c0001t0025g0023 a0001c0001t0026g0273 a0001c0001t0028g0048 a0001c0001t0031g0314 a0001c0001t0035g0378 a0001c0001t0036g0213 a0001c0001t0042g0367 a0001c0001t0045g0359 a0001c0001t0052g0240 a0001c0001t0053g0077 a0001c0001t0054g0019 a0001c0001t0057g0252 a0001c0001t0058g0121 a0001c0001t0059g0109 a0001c0001t0060g0080 a0001c0001t0061g0166 a0001c0001t0062g0382 a0001c0001t0069g0339 a0001c0001t0087g0190 a0001c0001t0091g0232 a0001c0001t0096g0003 a0001c0002t0001g0270 a0001c0002t0001g0288 a0001c0002t0002g0379 a0001c0002t0003g0035 a0001c0002t0004g0139 a0001c0002t0005g0075 a0001c0002t0005g0237 a0001c0002t0005g0320 a0001c0002t0006g0137 a0001c0002t0009g0241 a0001c0002t0026g0111 a0001c0002t0036g0138 a0001c0002t0089g0032 a0001c0010t0002g0018 a0001c0010t0002g0098 a0001c0010t0002g0118 a0001c0010t0002g0256 a0001c0039t0002g0319 a0001c0042t0002g0203 a0001c0048t0044g0394 a0002c0003t0001g0335 a0002c0003t0002g0103 a0002c0003t0002g0215 a0002c0003t0004g0348 a0002c0003t0005g0341 a0002c0003t0006g0046 a0002c0003t0008g0078 a0002c0003t0012g0108 a0002c0003t0071g0296 a0003c0004t0002g0197 a0003c0004t0002g0285 a0003c0004t0002g0297 a0003c0004t0003g0134 a0003c0004t0004g0390 a0003c0004t0005g0174 a0003c0004t0008g0310 a0003c0004t0008g0362 a0003c0004t0016g0313 a0003c0004t0038g0284 a0003c0004t0048g0047 a0003c0004t0066g0309 a0003c0004t0080g0201 a0003c0049t0002g0091 a0004c0005t0003g0094 a0004c0005t0003g0122 a0004c0005t0003g0124 a0004c0005t0004g0281 a0004c0005t0017g0184 a0004c0005t0051g0123 a0005c0006t0001g0304 a0005c0006t0002g0195 a0005c0006t0003g0238 a0005c0006t0063g0183 a0005c0017t0002g0259 a0005c0025t0002g0193 a0006c0007t0047g0167 a0006c0007t0065g0206 a0006c0007t0067g0205 a0006c0020t0002g0283 a0006c0023t0002g0230 a0006c0045t0003g0392 a0007c0008t0017g0178 a0007c0008t0037g0114 a0008c0012t0010g0389 a0008c0014t0030g0095 a0009c0018t0005g0170 a0010c0011t0005g0169 a0010c0011t0018g0009 a0010c0011t0018g0165 a0011c0015t0013g0280 a0012c0019t0002g0185 a0012c0019t0002g0186 a0013c0021t0001g0031 a0013c0021t0002g0254 a0014c0022t0010g0086 a0014c0022t0010g0192 a0015c0031t0004g0066 a0021c0040t0001g0268 a0022c0043t0004g0119	180	394	0.4569	24	c.170 others(43): Show c.170-23854_170-23853insTTCCACCTTCGAGCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511309	C C	CTTCTTCC others(17): Show CTTCTTCCACCTTCGAGCTTCCACT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0020 a0003c0004t0020	a0003c0004t0020g0189 a0003c0004t0020g0189	1	394	0.0025	24	c.170 others(43): Show c.170-23854_170-23853insTTCCACCTTCGAGCTTCCACTTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511407	C C	CCTTCCAC others(17): Show CCTTCCACCTTCCACCTTCCACCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(68): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01074.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG03486.hp2 NA18522.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0016 a0017 a0018 a0024 a0027	a0001c0001 a0001c0002 a0001c0030 others(17): Show a0001c0001 a0001c0002 a0001c0030 a0001c0041 a0002c0003 a0002c0036 a0003c0004 a0004c0005 a0005c0006 a0005c0017 a0006c0007 a0007c0008 a0008c0014 a0009c0009 a0010c0011 a0016c0032 a0017c0033 a0018c0035 a0024c0050 a0027c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0070 a0001c0001t0084 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0014 a0001c0002t0032 a0001c0002t0095 a0001c0030t0006 a0001c0041t0012 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0012 a0002c0003t0024 a0002c0003t0025 a0002c0003t0032 a0002c0003t0034 a0002c0003t0040 a0002c0036t0006 a0003c0004t0029 a0003c0004t0086 a0004c0005t0003 a0004c0005t0009 a0004c0005t0011 a0004c0005t0014 a0004c0005t0015 a0005c0006t0001 a0005c0006t0003 a0005c0006t0004 a0005c0006t0011 a0005c0017t0001 a0006c0007t0079 a0007c0008t0002 a0008c0014t0010 a0009c0009t0006 a0010c0011t0018 a0016c0032t0002 a0017c0033t0001 a0018c0035t0010 a0024c0050t0026 a0027c0026t0003	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 others(68): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0262 a0001c0001t0002g0082 a0001c0001t0002g0336 a0001c0001t0002g0352 a0001c0001t0003g0101 a0001c0001t0003g0246 a0001c0001t0003g0318 a0001c0001t0003g0344 a0001c0001t0005g0384 a0001c0001t0011g0016 a0001c0001t0011g0265 a0001c0001t0014g0247 a0001c0001t0017g0199 a0001c0001t0019g0258 a0001c0001t0021g0013 a0001c0001t0021g0349 a0001c0001t0022g0036 a0001c0001t0022g0037 a0001c0001t0025g0338 a0001c0001t0070g0343 a0001c0001t0084g0162 a0001c0002t0001g0222 a0001c0002t0001g0266 a0001c0002t0001g0316 a0001c0002t0002g0331 a0001c0002t0003g0291 a0001c0002t0005g0079 a0001c0002t0006g0385 a0001c0002t0011g0239 a0001c0002t0014g0088 a0001c0002t0032g0315 a0001c0002t0095g0357 a0001c0030t0006g0332 a0001c0041t0012g0317 a0002c0003t0001g0058 a0002c0003t0002g0131 a0002c0003t0006g0345 a0002c0003t0012g0292 a0002c0003t0024g0333 a0002c0003t0025g0061 a0002c0003t0032g0347 a0002c0003t0034g0056 a0002c0003t0040g0149 a0002c0036t0006g0346 a0003c0004t0029g0300 a0003c0004t0086g0302 a0004c0005t0003g0163 a0004c0005t0009g0087 a0004c0005t0011g0057 a0004c0005t0014g0290 a0004c0005t0015g0060 a0005c0006t0001g0161 a0005c0006t0003g0160 a0005c0006t0004g0020 a0005c0006t0011g0022 a0005c0017t0001g0267 a0006c0007t0079g0231 a0007c0008t0002g0004 a0008c0014t0010g0340 a0009c0009t0006g0133 a0010c0011t0018g0334 a0016c0032t0002g0006 a0017c0033t0001g0001 a0018c0035t0010g0342 a0024c0050t0026g0274 a0027c0026t0003g0059	71	394	0.1802	24	c.170 others(43): Show c.170-23716_170-23693dupCACCTTCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512310	T T	TCTTCCAC others(17): Show TCTTCCACCTTCCACCTTCTTCCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0191 a0001c0002t0075g0191	1	394	0.0025	24	c.170 others(43): Show c.170-22838_170-22837insTTCCACCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512944	C C	CTTCTTCC others(17): Show CTTCTTCCACCTTCCACCTTCCACT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01106.hp1 others(20): Show HG00140.hp1 HG00140.hp2 HG01106.hp1 HG01261.hp2 HG02572.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18952.hp1 NA18981.hp2 NA19077.hp2 NA19240.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0023 a0026	a0001c0001 a0001c0002 a0001c0044 others(8): Show a0001c0001 a0001c0002 a0001c0044 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0006c0007 a0008c0012 a0023c0046 a0026c0024	a0001c0001t0001 a0001c0001t0020 a0001c0001t0046 others(17): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0046 a0001c0002t0002 a0001c0002t0073 a0001c0044t0001 a0002c0003t0041 a0003c0004t0001 a0003c0004t0005 a0003c0004t0024 a0004c0005t0016 a0004c0005t0034 a0004c0005t0043 a0004c0005t0085 a0005c0006t0008 a0005c0006t0016 a0006c0007t0002 a0008c0012t0010 a0023c0046t0013 a0026c0024t0002	a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0020g0212 others(20): Show a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0020g0212 a0001c0001t0046g0312 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0073g0062 a0001c0044t0001g0383 a0002c0003t0041g0221 a0003c0004t0001g0217 a0003c0004t0005g0172 a0003c0004t0005g0173 a0003c0004t0024g0171 a0004c0005t0016g0295 a0004c0005t0034g0371 a0004c0005t0043g0219 a0004c0005t0085g0081 a0005c0006t0008g0216 a0005c0006t0016g0188 a0006c0007t0002g0311 a0008c0012t0010g0293 a0023c0046t0013g0245 a0026c0024t0002g0090	23	394	0.0584	24	c.170 others(43): Show c.170-22218_170-22195dupTTCCACCTTCCACCTTCCACTTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	369333	C C	CGCCTCCC others(17): Show CGCCTCCCTCGCCCCGCCTCCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	184	0.0054	24	c.-47 others(33): Show c.-471_-470insGCCTCCCTCGCCCCGCCTCCTCCG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		165		chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02071.hp2 HG02165.hp2 others(9): Show HG01884.hp1 HG02071.hp2 HG02165.hp2 HG03041.hp1 HG04228.hp2 NA18945.hp2 NA18980.hp1 NA18992.hp2 NA19009.hp1 NA19081.hp1 NA19086.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0001c0001t0034 a0001c0001t0038	a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0259 others(9): Show a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0271 a0001c0001t0004g0272 a0001c0001t0005g0207 a0001c0001t0010g0256 a0001c0001t0015g0254 a0001c0001t0015g0255 a0001c0001t0023g0172 a0001c0001t0034g0197 a0001c0001t0038g0258	12	366	0.0328	24	c.412 others(41): Show c.412+9671_412+9694dupGTGTGTGTGTGTGTGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT5_chr20_49627945_49718878	49694658	A A	AGGAAAGG others(17): Show AGGAAAGGGAAAGGGAAAGGGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 NA18946.hp1 others(6): Show HG00609.hp2 HG00673.hp2 NA18946.hp1 NA19055.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0005 a0002c0004t0032 a0001c0001t0002 a0002c0004t0005 a0002c0004t0032	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 others(6): Show a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0074 a0002c0004t0005g0220 a0002c0004t0005g0223 a0002c0004t0032g0243	9	364	0.0247	24	c.115 others(43): Show c.115+18894_115+18917dupCTTTCCCTTTCCCTTTCCCTTTCC	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8			chr20	TogoVar
B4GALT6_chr18_31617246_31689581	31688258	T T	TACATATA others(17): Show TACATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0218 a0001c0001t0008g0218	1	306	0.0033	24	c.-38 others(35): Show c.-3833_-3832insGTATATATATATATATATATATGT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3678		chr18	TogoVar
BABAM2_chr2_27885729_28343901	28026832	A A	ATATAAAT others(17): Show ATATAAATATATATAAATATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG03516.hp2 HG02630.hp1 HG02723.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015	3	158	0.0190	24	c.495 others(41): Show c.495+1412_495+1413insTATAAATATATATAAATATATATT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11			chr2	TogoVar
BABAM2_chr2_27885729_28343901	28026843	A A	AATATATA others(17): Show AATATATATTTATATATATATAGAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02735.hp2 HG02976.hp1 HG01192.hp2 HG02735.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0086	3	158	0.0190	24	c.495 others(41): Show c.495+1442_495+1443insTAGATATATATATTTATATATATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28026971	A A	AATATATA others(17): Show AATATATATTAATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 NA18906.hp1 HG02109.hp2 HG02970.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0109 a0001c0001t0002g0112 a0001c0001t0005g0119 a0001c0001t0001g0109 a0001c0001t0002g0112 a0001c0001t0005g0119	3	158	0.0190	24	c.495 others(41): Show c.495+1558_495+1559insTTAATATATATAAATATATATATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112083	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp2 HG03516.hp2 HG01433.hp1 HG01496.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0017 a0002c0002t0001g0085 a0001c0001t0001g0008 a0001c0001t0001g0017 a0002c0002t0001g0085	3	158	0.0190	24	c.571 others(43): Show c.571-17146_571-17123dupCTTTCTTTCTTTCTTTCTTTCTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112147	T T	TTCTTTCC others(17): Show TTCTTTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	158	0.0063	24	c.571 others(43): Show c.571-17123_571-17122insCTTTCCCTCCCTCCCTCCCTCCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112147	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	158	0.0063	24	c.571 others(43): Show c.571-17123_571-17122insCTTTCTTTCTTTCTTTCTTTCCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112193	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	158	0.0063	24	c.571 others(43): Show c.571-17075_571-17074insTCCTTCCTTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	158	0.0063	24	c.571 others(43): Show c.571-17071_571-17070insCCCTCCCTTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19091.hp2 HG02135.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0111 a0001c0001t0001g0115	2	158	0.0127	24	c.680 others(43): Show c.680+47193_680+47216dupAAAAAAAAAAAAAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02027.hp2 HG03491.hp2 others(8): Show HG01981.hp1 HG02027.hp2 HG03491.hp2 HG03834.hp2 HG04204.hp2 NA18944.hp1 NA18950.hp1 NA18959.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0050 a0001c0002t0001 a0001c0002t0022 a0001c0002t0056	a0001c0001t0002g0066 a0001c0001t0002g0193 a0001c0001t0003g0153 others(8): Show a0001c0001t0002g0066 a0001c0001t0002g0193 a0001c0001t0003g0153 a0001c0001t0003g0191 a0001c0001t0006g0196 a0001c0001t0015g0067 a0001c0001t0050g0195 a0001c0002t0001g0065 a0001c0002t0001g0253 a0001c0002t0022g0194 a0001c0002t0056g0192	11	272	0.0404	24	c.312 others(41): Show c.312+5563_312+5564insTTTTTTTTTTTTTTTTTTTTTTTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BACH2_chr6_89921528_90301843	90065270	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0069 a0001c0004t0018g0069	1	194	0.0052	24	c.-13 others(43): Show c.-13+23667_-13+23690dupAAAAAAAAAAAAAAAAAAAAAAAA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0028 a0002c0007t0028	a0002c0007t0028g0002 a0002c0007t0028g0002	1	194	0.0052	24	c.-16 others(43): Show c.-161-3183_-161-3182insATATATTTTTTTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19084.hp2 HG02040.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0012 a0001c0004t0110 a0001c0003t0012 a0001c0004t0110	a0001c0003t0012g0096 a0001c0004t0110g0122 a0001c0003t0012g0096 a0001c0004t0110g0122	2	194	0.0103	24	c.-16 others(43): Show c.-161-3183_-161-3182insATATATATATATTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19070.hp2 NA19084.hp1 HG02055.hp1 NA19070.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0112 a0001c0001t0136 a0001c0003t0009 a0001c0001t0112 a0001c0001t0136 a0001c0003t0009	a0001c0001t0112g0117 a0001c0001t0136g0192 a0001c0003t0009g0119 a0001c0001t0112g0117 a0001c0001t0136g0192 a0001c0003t0009g0119	3	194	0.0155	24	c.-16 others(43): Show c.-161-3183_-161-3182insATATATATATATATATTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0172 a0001c0001t0133g0172	1	194	0.0052	24	c.-16 others(43): Show c.-161-3183_-161-3182insATATATATATATATATATTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90100688	C C	CACACACA others(17): Show CACACACACACACAGACACACACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(51): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp2 NA18522.hp1 NA18979.hp1 NA19003.hp2 NA19062.hp1 NA19068.hp1 NA19085.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0002c0007 a0004c0010 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0026 a0001c0001t0041 a0001c0001t0051 a0001c0001t0052 a0001c0001t0056 a0001c0001t0058 a0001c0001t0071 a0001c0001t0082 a0001c0001t0086 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0133 a0001c0001t0137 a0001c0002t0006 a0001c0002t0057 a0001c0002t0061 a0001c0002t0063 a0001c0002t0080 a0001c0002t0125 a0001c0002t0129 a0001c0003t0008 a0001c0003t0014 a0001c0003t0015 a0001c0003t0019 a0001c0003t0059 a0001c0003t0094 a0001c0003t0132 a0001c0004t0018 a0001c0004t0033 a0001c0004t0034 a0001c0004t0047 a0001c0004t0060 a0001c0004t0066 a0001c0004t0088 a0001c0005t0073 a0001c0005t0099 a0001c0005t0127 a0001c0006t0002 a0001c0006t0046 a0001c0009t0021 a0001c0011t0122 a0002c0007t0030 a0004c0010t0106 a0005c0015t0105	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0002g0076 others(51): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0002g0076 a0001c0001t0004g0036 a0001c0001t0008g0061 a0001c0001t0008g0103 a0001c0001t0026g0173 a0001c0001t0041g0015 a0001c0001t0051g0150 a0001c0001t0052g0071 a0001c0001t0056g0162 a0001c0001t0058g0080 a0001c0001t0071g0070 a0001c0001t0082g0074 a0001c0001t0086g0024 a0001c0001t0093g0104 a0001c0001t0095g0062 a0001c0001t0096g0108 a0001c0001t0133g0172 a0001c0001t0137g0194 a0001c0002t0006g0073 a0001c0002t0057g0023 a0001c0002t0061g0026 a0001c0002t0063g0168 a0001c0002t0080g0075 a0001c0002t0125g0177 a0001c0002t0129g0191 a0001c0003t0008g0106 a0001c0003t0014g0174 a0001c0003t0015g0005 a0001c0003t0015g0006 a0001c0003t0019g0072 a0001c0003t0019g0142 a0001c0003t0059g0078 a0001c0003t0094g0059 a0001c0003t0132g0175 a0001c0004t0018g0069 a0001c0004t0033g0007 a0001c0004t0034g0009 a0001c0004t0047g0151 a0001c0004t0060g0149 a0001c0004t0066g0027 a0001c0004t0088g0010 a0001c0005t0073g0077 a0001c0005t0099g0014 a0001c0005t0127g0171 a0001c0006t0002g0022 a0001c0006t0002g0161 a0001c0006t0046g0160 a0001c0009t0021g0107 a0001c0011t0122g0188 a0002c0007t0030g0001 a0004c0010t0106g0060 a0005c0015t0105g0156	54	194	0.2784	24	c.-16 others(45): Show c.-161-11580_-161-11579insATGTGTGTGTCTGTGTGTGTGTGT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90100726	C C	CACACAGA others(17): Show CACACAGACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0094 a0001c0001t0042g0094	1	194	0.0052	24	c.-16 others(45): Show c.-161-11618_-161-11617insCTGTGTGTGTGTGTGTGTCTGTGT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90100728	G G	GACACACA others(17): Show GACACACACACACACACACACAGAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02155.hp1 HG02080.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0013 a0001c0005t0100 a0001c0001t0013 a0001c0005t0100	a0001c0001t0013g0049 a0001c0005t0100g0012 a0001c0001t0013g0049 a0001c0005t0100g0012	2	194	0.0103	24	c.-16 others(45): Show c.-161-11620_-161-11619insGTCTGTGTGTGTGTGTGTGTGTGT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0007 a0001c0004t0033g0007	1	194	0.0052	24	c.-16 others(45): Show c.-161-13921_-161-13920insAAAAAATATATATATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAG3_chr10_119646380_119682819	119675761	T T	TTCCTTCC others(17): Show TTCCTTCCCTCCTTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 NA18970.hp2 others(2): Show HG01515.hp2 HG01517.hp2 NA18970.hp2 NA18998.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0249 others(2): Show a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0005g0269 a0001c0001t0005g0270	5	420	0.0119	24	c.910 others(39): Show c.910-684_910-683insTTCCCTCCTTCCCTCCTTCCCTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675895	T T	TCCTTCCC others(17): Show TCCTTCCCCCCTTCCCCTTTTCCCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	420	0.0024	24	c.910 others(39): Show c.910-555_910-554insCCTTTTCCCCCCTTCCCCCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG6_chr6_31634028_31657661	31652320	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	427	0.0023	24	c.-14 others(38): Show c.-14+80_-14+103dupGTGTGTGTGTGTGTGTGTGTGTGT	BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding	1/25			chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81411474	C C	CCCTGCCT others(17): Show CCCTGCCTGCCTGCCTGCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0013 a0003c0002t0013	a0003c0002t0013g0168 a0003c0002t0013g0168	1	332	0.0030	24	c.178 others(43): Show c.178+11577_178+11600dupGCCTGCCTGCCTGCCTGCCTGCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411514	G G	GCCTGCCT others(17): Show GCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0034 a0034	a0034c0033 a0034c0033	a0034c0033t0001 a0034c0033t0001	a0034c0033t0001g0178 a0034c0033t0001g0178	1	332	0.0030	24	c.178 others(43): Show c.178+11600_178+11601insGCCTGCCTTCCTTCCTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418796	C C	CGCGCATG others(17): Show CGCGCATGTGTGTGTGTGTGCGCAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0001 a0002c0074t0001	a0002c0074t0001g0054 a0002c0074t0001g0054	1	332	0.0030	24	c.179 others(41): Show c.179-8003_179-8002insCGCATGTGTGTGTGTGTGCGCATG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418804	T T	TGTGCGCG others(17): Show TGTGCGCGCATGTGTGTGTGTGTAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01496.hp1 HG00099.hp2 HG01496.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0077 a0001c0021t0002g0114 a0001c0021t0002g0077 a0001c0021t0002g0114	2	332	0.0060	24	c.179 others(41): Show c.179-7993_179-7992insCGCGCATGTGTGTGTGTGTACGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418806	T T	TGTGTGCG others(17): Show TGTGTGCGCATGTGTGTGTGTGTAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG06807.hp1 HG00733.hp1 HG00738.hp2 HG06807.hp1	a0001 a0035 a0055 a0001 a0035 a0055	a0001c0093 a0035c0095 a0055c0034 a0001c0093 a0035c0095 a0055c0034	a0001c0093t0001 a0035c0095t0002 a0055c0034t0002 a0001c0093t0001 a0035c0095t0002 a0055c0034t0002	a0001c0093t0001g0145 a0035c0095t0002g0146 a0055c0034t0002g0216 a0001c0093t0001g0145 a0035c0095t0002g0146 a0055c0034t0002g0216	3	332	0.0090	24	c.179 others(41): Show c.179-7992_179-7991insGTGCGCATGTGTGTGTGTGTACGT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar

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