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
AXIN1_chr16_282440_357723	323776	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0032 a0001c0004t0013 a0001c0004t0032	a0001c0004t0013g0278 a0001c0004t0013g0280 a0001c0004t0032g0279 a0001c0004t0013g0278 a0001c0004t0013g0280 a0001c0004t0032g0279	3	378	0.0079	12	c.879 others(29): Show c.879-9105_879-9094dupTGTGTGTGTGTG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN2_chr17_65523563_65566648	65564088	T T	TCACACAC others(5): Show TCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02647.hp2 HG02055.hp1 HG02109.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0002 a0001c0002t0004 a0001c0004t0002	a0001c0002t0004g0291 a0001c0004t0002g0050 a0001c0002t0004g0291 a0001c0004t0002g0050	3	402	0.0075	12	c.-27 others(23): Show c.-2756_-2755insTGTGTGTGTGTG	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding		2441		chr17	TogoVar
AXL_chr19_41214223_41266766	41256080	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA19043.hp1 HG01515.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0014 a0001c0011t0011 a0001c0001t0014 a0001c0011t0011	a0001c0001t0014g0065 a0001c0011t0011g0260 a0001c0001t0014g0065 a0001c0011t0011g0260	2	314	0.0064	12	c.203 others(29): Show c.2037-362_2037-351dupTGTGTGTGTGTG	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZGP1_chr7_99961730_99981031	99963046	T T	TTTAATAT others(5): Show TTTAATATTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	432	0.0023	12	c.39 others(23): Show c.3956_*3957insCCTGAATATTAA	AZGP1	ENSG00000160862.13	transcript	ENST00000292401.9	protein_coding		3683		chr7	TogoVar
AZGP1_chr7_99961730_99981031	99976855	C C	CGGAGCGG others(5): Show CGGAGCGGTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	432	0.0023	12	c.-83 others(21): Show c.-836_-835insAGAGACCGCTCC	AZGP1	ENSG00000160862.13	transcript	ENST00000292401.9	protein_coding		825		chr7	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAAAAAAA others(5): Show AAAAAAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(38): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00733.hp1 HG01106.hp2 HG01167.hp1 HG01258.hp1 HG01517.hp2 HG01952.hp1 HG02055.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02976.hp2 HG03688.hp1 HG03831.hp1 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp2 NA18961.hp1 NA18969.hp1 NA18971.hp2 NA18982.hp1 NA18985.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19070.hp1 NA19090.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006 a0008c0016	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0003c0006t0001 a0008c0016t0005	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0034 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0041 a0001c0002t0001g0056 a0001c0003t0001g0061 a0003c0006t0001g0023 a0008c0016t0005g0044	41	391	0.1049	12	c.-43 others(23): Show c.-4397_-4396insAAAAAAACAAAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4386		chr19	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAAACAAA others(5): Show AAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02145.hp2 HG01516.hp1 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0004 a0001c0003t0001g0068 a0001c0002t0001g0004 a0001c0003t0001g0068	2	391	0.0051	12	c.-43 others(23): Show c.-4397_-4396insAAACAAACAAAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4386		chr19	TogoVar
AZU1_chr19_822837_837018	829936	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03669.hp1 HG02630.hp2 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	2	391	0.0051	12	c.360 others(27): Show c.360+258_360+269dupGTGTGTGTGTGT	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	833272	T T	TAAGAAGA others(5): Show TAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19007.hp2 NA19000.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0002t0001g0009 a0001c0001t0001g0026 a0001c0002t0001g0009	2	391	0.0051	12	c.13 others(23): Show c.1395_*1396insAAGAAGAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1255		chr19	TogoVar
AZU1_chr19_822837_837018	833278	T T	TAAGAAGA others(5): Show TAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02055.hp1 HG01993.hp2 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0004 a0001c0002t0001g0006	2	391	0.0051	12	c.14 others(23): Show c.1401_*1402insAAGAAGAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1261		chr19	TogoVar
AZU1_chr19_822837_837018	833278	T T	TAATAATA others(5): Show TAATAATAATAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	12	c.14 others(23): Show c.1401_*1402insAATAATAATAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1261		chr19	TogoVar
AZU1_chr19_822837_837018	836455	G G	GGAGACAG others(5): Show GGAGACAGAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	391	0.0026	12	c.45 others(23): Show c.4578_*4579insGAGACAGAGACA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4438		chr19	TogoVar
B2M_chr15_44706517_44723145	44721693	A A	ACACCACC others(5): Show ACACCACCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	385	0.0026	12	c.41 others(23): Show c.4101_*4102insCACCACCACCAC	B2M	ENSG00000166710.23	transcript	ENST00000648006.3	protein_coding		3549		chr15	TogoVar
B3GALNT2_chr1_235442190_235509452	235474950	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0336 a0001c0002t0003g0336	1	344	0.0029	12	c.652 others(29): Show c.652-4002_652-3991dupATATATATATAT	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11			chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235509023	A A	ATATATAT others(5): Show ATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA20129.hp1 HG03098.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0043 a0001c0001t0010 a0001c0001t0043	a0001c0001t0010g0019 a0001c0001t0043g0232 a0001c0001t0010g0019 a0001c0001t0043g0232	2	344	0.0058	12	c.-47 others(23): Show c.-4772_-4771insAATATATATATA	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding		4572		chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167303682	C C	CACACACA others(5): Show CACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0118 a0001c0001t0050g0118	1	118	0.0085	12	c.-51 others(33): Show c.-511+10349_-511+10350insCACACAGAGAGA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167400166	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00673.hp2 others(37): Show HG00558.hp1 HG00558.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01891.hp1 HG02004.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18953.hp2 NA18968.hp1 NA19007.hp2 NA19056.hp1 NA19068.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049	a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0078 others(37): Show a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0003g0059 a0001c0001t0003g0082 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0004g0061 a0001c0001t0004g0064 a0001c0001t0004g0087 a0001c0001t0005g0101 a0001c0001t0006g0040 a0001c0001t0007g0100 a0001c0001t0007g0102 a0001c0001t0008g0080 a0001c0001t0008g0095 a0001c0001t0008g0104 a0001c0001t0010g0110 a0001c0001t0012g0075 a0001c0001t0012g0083 a0001c0001t0013g0039 a0001c0001t0013g0066 a0001c0001t0016g0077 a0001c0001t0017g0099 a0001c0001t0018g0060 a0001c0001t0030g0072 a0001c0001t0031g0057 a0001c0001t0034g0103 a0001c0001t0036g0033 a0001c0001t0038g0025 a0001c0001t0040g0022 a0001c0001t0043g0086 a0001c0001t0045g0045 a0001c0001t0048g0021 a0001c0001t0049g0054	40	118	0.3390	12	c.-51 others(33): Show c.-510-89995_-510-89984dupGTGTGTGTGTGT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167512546	G G	GTATATAT others(5): Show GTATATATATGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG02922.hp2 others(2): Show HG01891.hp2 HG02723.hp1 HG02922.hp2 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0021 others(2): Show a0001c0001t0010 a0001c0001t0015 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027	a0001c0001t0010g0008 a0001c0001t0015g0069 a0001c0001t0021g0035 others(2): Show a0001c0001t0010g0008 a0001c0001t0015g0069 a0001c0001t0021g0035 a0001c0001t0026g0009 a0001c0001t0027g0006	5	118	0.0424	12	c.-41 others(33): Show c.-410+22305_-410+22316dupATATATATATGT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167512568	G G	GTATATAT others(5): Show GTATATATGTGTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0091 a0001c0001t0024g0091	1	118	0.0085	12	c.-41 others(33): Show c.-410+22298_-410+22299insGTGTATATATAT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167512591	T T	TGTATATA others(5): Show TGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	118	0.0085	12	c.-41 others(33): Show c.-410+22316_-410+22317insATATATATACGT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167512596	A A	ATATATAT others(5): Show ATATATATATATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG02886.hp1 others(5): Show HG00558.hp1 HG00673.hp1 HG02886.hp1 HG03098.hp1 HG03654.hp1 NA18948.hp2 NA19060.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0033 a0001c0001t0047 a0001c0003t0044	a0001c0001t0002g0029 a0001c0001t0003g0112 a0001c0001t0006g0040 others(5): Show a0001c0001t0002g0029 a0001c0001t0003g0112 a0001c0001t0006g0040 a0001c0001t0006g0089 a0001c0001t0019g0020 a0001c0001t0033g0016 a0001c0001t0047g0019 a0001c0003t0044g0115	8	118	0.0678	12	c.-41 others(33): Show c.-410+22331_-410+22342dupGTATATATATAT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167563783	A A	ACCCCCCC others(5): Show ACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0054 a0001c0001t0049g0054	1	118	0.0085	12	c.-41 others(33): Show c.-410+73513_-410+73524dupCACCTCCCCCCC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167564133	C C	CTCACTTC others(5): Show CTCACTTCTCAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	118	0.0085	12	c.-41 others(33): Show c.-410+73857_-410+73868dupTCACTTCTCAGA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167588818	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0101 a0001c0001t0005g0101	1	118	0.0085	12	c.-40 others(33): Show c.-409-58075_-409-58064dupCTTCCTTCCTTC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167612367	T T	TTTATTAT others(5): Show TTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02717.hp2 others(2): Show HG01891.hp2 HG02280.hp2 HG02717.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0023 a0001c0001t0003g0002 a0001c0001t0006g0071 others(2): Show a0001c0001t0001g0023 a0001c0001t0003g0002 a0001c0001t0006g0071 a0001c0001t0010g0008 a0001c0001t0010g0092	5	118	0.0424	12	c.-40 others(33): Show c.-409-34524_-409-34513dupATTATTATTATT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167625942	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp2 HG02258.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0010 a0001c0001t0015g0069 a0001c0001t0002g0010 a0001c0001t0015g0069	2	118	0.0170	12	c.-40 others(33): Show c.-409-20934_-409-20923dupATATATATATAT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167625985	A A	ATATATAT others(5): Show ATATATATATATG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	118	0.0085	12	c.-40 others(33): Show c.-409-20923_-409-20922insATATATATATGT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167676516	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0080 a0001c0001t0008g0080	1	118	0.0085	12	c.-35 others(33): Show c.-352+29578_-352+29589dupCACACACACACA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167776040	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	118	0.0085	12	c.-35 others(33): Show c.-351-42605_-351-42594dupCACACACACACA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167803081	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02109.hp2 HG03540.hp1 others(1): Show HG00673.hp1 HG02109.hp2 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0019 a0001c0001t0029 others(1): Show a0001c0001t0016 a0001c0001t0019 a0001c0001t0029 a0001c0001t0034	a0001c0001t0016g0077 a0001c0001t0019g0020 a0001c0001t0029g0036 others(1): Show a0001c0001t0016g0077 a0001c0001t0019g0020 a0001c0001t0029g0036 a0001c0001t0034g0103	4	118	0.0339	12	c.-35 others(33): Show c.-351-15562_-351-15551dupACACACACACAC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167825283	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp2 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0034 a0001c0001t0003 a0001c0001t0034	a0001c0001t0003g0002 a0001c0001t0034g0103 a0001c0001t0003g0002 a0001c0001t0034g0103	2	118	0.0170	12	c.-23 others(31): Show c.-230+6495_-230+6506dupAAAAAAAAAAAA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167875969	A A	ATATATAT others(5): Show ATATATATACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	118	0.0085	12	c.59 others(23): Show c.5949_*5950insTATATATACACG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1925		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876037	A A	ATATATAT others(5): Show ATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	118	0.0085	12	c.60 others(23): Show c.6017_*6018insTATATATATATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1993		chr2	TogoVar
B3GALT2_chr1_193173730_193191613	193187102	T T	TCCCCCCC others(5): Show TCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02004.hp2 HG04115.hp1 others(1): Show HG01081.hp1 HG02004.hp2 HG04115.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0006g0052 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0006g0052	4	398	0.0101	12	c.-12 others(23): Show c.-1205_-1204insGGGGGGGGGGGG	B3GALT2	ENSG00000162630.6	transcript	ENST00000367434.5	protein_coding		490		chr1	TogoVar
B3GALT2_chr1_193173730_193191613	193187102	T T	TCCCTTAG others(5): Show TCCCTTAGATCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02615.hp2 others(11): Show HG02257.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0021 others(2): Show a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0036 a0001c0001t0008g0022	14	398	0.0352	12	c.-12 others(23): Show c.-1205_-1204insGGGATCTAAGGG	B3GALT2	ENSG00000162630.6	transcript	ENST00000367434.5	protein_coding		490		chr1	TogoVar
B3GALT5_chr21_39607940_39678137	39623233	C C	CCCTTCCT others(5): Show CCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01261.hp1 others(11): Show HG00438.hp2 HG00609.hp1 HG01261.hp1 HG02523.hp2 HG02602.hp1 HG03490.hp1 NA18948.hp1 NA18963.hp2 NA18971.hp1 NA18977.hp1 NA18994.hp2 NA19012.hp1 NA19012.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0027 a0001c0001t0050 a0001c0001t0069 a0001c0001t0075 a0002c0002t0003 a0002c0002t0006	a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0275 others(11): Show a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0275 a0001c0001t0008g0251 a0001c0001t0013g0253 a0001c0001t0027g0150 a0001c0001t0050g0281 a0001c0001t0069g0256 a0001c0001t0075g0282 a0002c0002t0003g0020 a0002c0002t0003g0145 a0002c0002t0003g0250 a0002c0002t0003g0252 a0002c0002t0006g0283	14	336	0.0417	12	c.-39 others(33): Show c.-392+10169_-392+10170insTCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39623237	C C	CCCTTCCT others(5): Show CCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01952.hp2 HG02129.hp2 others(5): Show HG00558.hp1 HG01952.hp2 HG02129.hp2 HG04204.hp2 HG04228.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0070 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0070 a0002c0002t0003 a0002c0002t0004 a0002c0002t0114	a0001c0001t0001g0180 a0001c0001t0013g0276 a0001c0001t0070g0178 others(5): Show a0001c0001t0001g0180 a0001c0001t0013g0276 a0001c0001t0070g0178 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0184 a0002c0002t0004g0183 a0002c0002t0114g0179	8	336	0.0238	12	c.-39 others(33): Show c.-392+10173_-392+10174insTCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639288	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18959.hp1 HG01891.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0098 a0001c0001t0005 a0002c0002t0098	a0001c0001t0005g0210 a0002c0002t0098g0226 a0001c0001t0005g0210 a0002c0002t0098g0226	2	336	0.0060	12	c.-39 others(31): Show c.-391-7053_-391-7042dupTTTCTTTCTTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639346	C C	CTTTCTTT others(5): Show CTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0302 a0001c0001t0017g0302	1	336	0.0030	12	c.-39 others(31): Show c.-391-7042_-391-7041insTTTCTTTTTTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0087 a0002c0002t0087	a0002c0002t0087g0205 a0002c0002t0087g0205	1	336	0.0030	12	c.-39 others(31): Show c.-391-7009_-391-6998dupCTTCCTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCTTTC others(5): Show TTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0085 a0002c0002t0006g0085	1	336	0.0030	12	c.-39 others(31): Show c.-391-7042_-391-7041insTTTCCTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCTTTC others(5): Show TTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03942.hp1 HG02145.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0026 a0002c0002t0096 a0001c0003t0026 a0002c0002t0096	a0001c0003t0026g0135 a0002c0002t0096g0325 a0001c0003t0026g0135 a0002c0002t0096g0325	2	336	0.0060	12	c.-39 others(31): Show c.-391-7042_-391-7041insTTTCTTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639358	C C	CTTTCTTT others(5): Show CTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0046 a0001c0001t0017g0046	1	336	0.0030	12	c.-39 others(31): Show c.-391-7034_-391-7033insTTTCTTTCTTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3			chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639391	C C	CTTCCTTC others(5): Show CTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0123 a0001c0003t0123	a0001c0003t0123g0137 a0001c0003t0123g0137	1	336	0.0030	12	c.-39 others(31): Show c.-391-6998_-391-6997insCTTCTTTCTTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTCCCTTT others(5): Show TTCCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0029 a0001c0001t0028g0029	1	336	0.0030	12	c.-39 others(31): Show c.-391-6991_-391-6990insCCCTTTCTTTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTCTCTTT others(5): Show TTCTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0105 a0002c0002t0105	a0002c0002t0105g0071 a0002c0002t0105g0071	1	336	0.0030	12	c.-39 others(31): Show c.-391-6991_-391-6990insCTCTTTCTTTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTCTTTCT others(5): Show TTCTTTCTCTTTC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0078 a0001c0001t0066g0078	1	336	0.0030	12	c.-39 others(31): Show c.-391-6991_-391-6990insCTTTCTCTTTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTCTTTTT others(5): Show TTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03209.hp2 NA18522.hp2 HG01943.hp1 HG03209.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0080 a0002c0002t0106 a0002c0002t0004 a0002c0002t0080 a0002c0002t0106	a0002c0002t0004g0158 a0002c0002t0080g0311 a0002c0002t0106g0307 a0002c0002t0004g0158 a0002c0002t0080g0311 a0002c0002t0106g0307	3	336	0.0089	12	c.-39 others(31): Show c.-391-6991_-391-6990insCTTTTTCTTTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19004.hp2 NA19012.hp1 others(2): Show NA18522.hp1 NA19004.hp2 NA19012.hp1 NA19083.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0050 a0002c0002t0004 a0002c0002t0006 others(2): Show a0001c0001t0050 a0002c0002t0004 a0002c0002t0006 a0002c0002t0120 a0004c0007t0110	a0001c0001t0050g0281 a0002c0002t0004g0270 a0002c0002t0006g0283 others(2): Show a0001c0001t0050g0281 a0002c0002t0004g0270 a0002c0002t0006g0283 a0002c0002t0120g0044 a0004c0007t0110g0045	5	336	0.0149	12	c.-39 others(31): Show c.-391-6948_-391-6937dupCTTTCTTTCTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GAT1_chr11_134373508_134417242	134403983	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18998.hp2 HG00558.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	352	0.0057	12	c.-28 others(31): Show c.-282+7812_-282+7823dupTATATATATATA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar

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