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
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0155 a0001c0001t0050g0155	1	252	0.0040	30	c.355 others(49): Show c.355+56826_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG03471.hp1 others(1): Show HG02630.hp1 HG02717.hp2 HG03471.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0015	4	428	0.0094	30	c.-41 others(41): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	30	c.-41 others(41): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	428	0.0023	30	c.-41 others(41): Show c.-4104_-4103insGTGTGTGTATATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01993.hp1 HG02080.hp1 others(2): Show HG01256.hp1 HG01993.hp1 HG02080.hp1 HG02486.hp1 NA18972.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0079 others(2): Show a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0079 a0002c0002t0001g0009 a0002c0002t0001g0078	5	428	0.0117	30	c.-41 others(41): Show c.-4104_-4103insGTATATATATATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01081.hp1 others(2): Show HG00438.hp2 HG00621.hp2 HG01081.hp1 NA18961.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0001 a0001c0001t0001g0038	5	410	0.0122	30	c.41 others(41): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69614368	T T	TCTTTCTT others(23): Show TCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0017 a0001c0008t0017	a0001c0008t0017g0046 a0001c0008t0017g0046	1	76	0.0132	30	c.309 others(49): Show c.309+14406_309+14407insCTTTCTTTTCTTTCTTTCTTTCTTTC TTTC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	76	0.0132	30	c.310 others(49): Show c.310-28820_310-28819insATATATATATATATATATATATATAT ATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003172	T T	TTATATGA others(23): Show TTATATGAATATATTATATATGAATATATTA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	76	0.0132	30	c.522 others(51): Show c.522+103733_522+103762dupTATATATGAATATATTATATATGA ATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003659	T T	TATATATA others(23): Show TATATATAATATATATGAATGTTATATATGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01175.hp1 others(6): Show HG01081.hp1 HG01081.hp2 HG01175.hp1 HG02165.hp2 HG02647.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 a0001c0001t0034 a0001c0001t0035 a0001c0005t0030	a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0022g0032 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0005t0030g0013	9	76	0.1184	30	c.522 others(51): Show c.522+104182_522+104183insTATATATGAATATATAATATATAT GAATGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003693	T T	TATATATA others(23): Show TATATATAATATATATGAATGTTATATATGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG01884.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0006 a0001c0001t0014	a0001c0001t0006g0038 a0001c0001t0014g0070 a0001c0001t0006g0038 a0001c0001t0014g0070	2	76	0.0263	30	c.522 others(51): Show c.522+104216_522+104217insTATATATGAATATATAATATATAT GAATGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70011314	T T	TCTCTCCT others(23): Show TCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	76	0.0132	30	c.523 others(51): Show c.523-106796_523-106767dupTCTCCTCTCCTCTCCTCTCCTCTC CTCTCC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70444373	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0069 a0001c0003t0008g0069	1	76	0.0132	30	c.690 others(47): Show c.690+8593_690+8594insTGTGTGTGTGTGTGTGTGTGTGAGAGAG AG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18612.hp1 HG02165.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0052 a0001c0001t0002g0053	2	76	0.0263	30	c.691 others(51): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	266	0.0038	30	c.446 others(49): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(23): Show CACACACACACACACAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	266	0.0038	30	c.446 others(49): Show c.446-57530_446-57529insCTCTCTCTCTCTCTCTGTGTGTGTGT GTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	372	0.0027	30	c.-20 others(45): Show c.-20+417_-20+446dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19			chr12	TogoVar
AVL9_chr7_32490489_32593726	32503365	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0270 a0001c0001t0044g0270	1	330	0.0030	30	c.93+ others(45): Show c.93+7564_93+7565insCACACACACACACACACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04199.hp2 NA19068.hp2 HG00423.hp1 HG04199.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0045 a0001c0001t0101 a0001c0001t0014 a0001c0001t0045 a0001c0001t0101	a0001c0001t0014g0259 a0001c0001t0045g0281 a0001c0001t0101g0309 a0001c0001t0014g0259 a0001c0001t0045g0281 a0001c0001t0101g0309	3	330	0.0091	30	c.93+ others(45): Show c.93+7566_93+7567insCACACACACACACACACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AXDND1_chr1_179360971_179559735	179381785	A A	ATTTTATT others(23): Show ATTTTATTTTTTGGAGATGGAGTTTTGCTGT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0260 a0002c0001t0001g0260	1	356	0.0028	30	c.582 others(45): Show c.582-913_582-884dupTTTATTTTTTGGAGATGGAGTTTTGCTGTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179394592	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02647.hp2 others(1): Show HG01884.hp2 HG02486.hp1 HG02647.hp2 HG02886.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0095 a0009c0013t0001g0096 a0009c0013t0001g0097 others(1): Show a0009c0013t0001g0095 a0009c0013t0001g0096 a0009c0013t0001g0097 a0009c0013t0001g0098	4	356	0.0112	30	c.100 others(47): Show c.1005-485_1005-484insAAATAAAATAAAATAAAATAAAATAAAA TA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	C C	CTTTTCTT others(23): Show CTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02723.hp2 NA18990.hp2 others(1): Show HG00733.hp1 HG02723.hp2 NA18990.hp2 NA19240.hp1	a0001 a0015 a0001 a0015	a0001c0003 a0015c0029 a0001c0003 a0015c0029	a0001c0003t0001 a0015c0029t0001 a0001c0003t0001 a0015c0029t0001	a0001c0003t0001g0216 a0001c0003t0001g0266 a0001c0003t0001g0288 others(1): Show a0001c0003t0001g0216 a0001c0003t0001g0266 a0001c0003t0001g0288 a0015c0029t0001g0271	4	356	0.0112	30	c.209 others(49): Show c.2092-2904_2092-2903insTTTTCTTTCTTTCTTTCTTTCTTTTT CTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25			chr1	TogoVar
AXIN1_chr16_282440_357723	285909	C C	CCCAACCC others(23): Show CCCAACCCCAACCCCAACCCCAACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02976.hp1 HG01109.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0068 a0001c0003t0021g0069 a0001c0003t0021g0068 a0001c0003t0021g0069	2	378	0.0053	30	c.22 others(41): Show c.2212_*2213insTGTTGGGGTTGGGGTTGGGGTTGGGGTTGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1530		chr16	TogoVar
AXIN1_chr16_282440_357723	285966	T T	TCCCAACC others(23): Show TCCCAACCCCAACCCCAACCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0215 a0001c0003t0012g0215	1	378	0.0027	30	c.21 others(41): Show c.2155_*2156insGTTGGGGTTGGGGTTGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1473		chr16	TogoVar
AXIN1_chr16_282440_357723	326394	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0033 a0010c0025t0033	a0010c0025t0033g0063 a0010c0025t0033g0063	1	378	0.0027	30	c.879 others(49): Show c.879-11712_879-11711insGTGTGTGTATATATATATATATATAT ATAT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN1_chr16_282440_357723	326394	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0044 a0001c0003t0003g0044	1	378	0.0027	30	c.879 others(49): Show c.879-11712_879-11711insGTGTGTATATATATATATATATATAT ATAT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AZU1_chr19_822837_837018	836682	A A	AACCCTCC others(23): Show AACCCTCCCTGCTACCCGCTCCCAGCGCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	391	0.0026	30	c.48 others(41): Show c.4805_*4806insACCCTCCCTGCTACCCGCTCCCAGCGCTCC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4665		chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167875971	A A	ATATATAT others(23): Show ATATATATATACACGTATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	118	0.0085	30	c.59 others(41): Show c.5951_*5952insTATATATATACACGTATATATATATATACG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1927		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876021	A A	ATATATAT others(23): Show ATATATATATATACGTATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03139.hp2 HG02922.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0024 a0001c0001t0015 a0001c0001t0024	a0001c0001t0015g0069 a0001c0001t0024g0091 a0001c0001t0015g0069 a0001c0001t0024g0091	2	118	0.0170	30	c.60 others(41): Show c.6001_*6002insTATATATATATACGTATATATATATATACG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1977		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876097	G G	GTATATAT others(23): Show GTATATATATATACGTATATATATATGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	118	0.0085	30	c.60 others(41): Show c.6077_*6078insTATATATATATACGTATATATATATGTATA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2053		chr2	TogoVar
B3GAT2_chr6_70851679_70962060	70855050	T T	TCATATAC others(23): Show TCATATACATATACATATACATATACATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01496.hp2 others(7): Show HG00323.hp2 HG00738.hp1 HG01496.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02165.hp2 HG02451.hp2 HG03927.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0020 a0001c0001t0060 a0001c0002t0008 a0001c0002t0038 a0001c0002t0097	a0001c0001t0003g0126 a0001c0001t0004g0098 a0001c0001t0009g0047 others(7): Show a0001c0001t0003g0126 a0001c0001t0004g0098 a0001c0001t0009g0047 a0001c0001t0020g0097 a0001c0001t0060g0118 a0001c0002t0008g0002 a0001c0002t0008g0216 a0001c0002t0008g0228 a0001c0002t0038g0180 a0001c0002t0097g0296	10	316	0.0317	30	c.65 others(41): Show c.6583_*6612dupTATATGTATATGTATATGTATATGTATATG	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding		1628		chr6	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	268	0.0037	30	c.-38 others(41): Show c.-3878_-3877insTATATATATATATATATATATATATATATT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0033 a0002c0002t0003g0033	1	268	0.0037	30	c.-38 others(41): Show c.-3878_-3877insTATATATATATATATATATATATATATTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0023 a0002c0002t0004g0023	1	268	0.0037	30	c.-38 others(41): Show c.-3878_-3877insTATATATATATATATATATATATATTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0263 a0002c0002t0002g0263	1	268	0.0037	30	c.-38 others(41): Show c.-3878_-3877insTATATATATATATATATATATTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	268	0.0037	30	c.-38 others(41): Show c.-3878_-3877insTATATATATATATATATATTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0125 a0002c0002t0008g0125	1	268	0.0037	30	c.-38 others(41): Show c.-3878_-3877insTATATATATATATATATTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	268	0.0037	30	c.-38 others(41): Show c.-3878_-3877insTATATATATATATTTTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG02602.hp2 others(5): Show HG00639.hp2 HG02145.hp1 HG02602.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp2 HG03942.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0025 a0002c0002t0002	a0001c0001t0001g0076 a0001c0001t0001g0193 a0001c0001t0004g0041 others(5): Show a0001c0001t0001g0076 a0001c0001t0001g0193 a0001c0001t0004g0041 a0001c0001t0005g0066 a0001c0001t0007g0021 a0001c0001t0025g0261 a0002c0002t0002g0195 a0002c0002t0002g0216	8	268	0.0299	30	c.106 others(49): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17807111	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	406	0.0025	30	c.-50 others(45): Show c.-50-642_-50-613dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	390	0.0026	30	c.-30 others(47): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT6_chr11_77029398_77046973	77029441	G G	GGCACAGT others(23): Show GGCACAGTGGCTGTCAGCAGAGAGAGCTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0028 a0001c0001t0014g0028	1	442	0.0023	30	c.-50 others(41): Show c.-5038_-5037insGCACAGTGGCTGTCAGCAGAGAGAGCTACA	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		4956		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01258.hp1 HG02135.hp2 others(6): Show HG01081.hp1 HG01258.hp1 HG02135.hp2 HG02155.hp2 HG02273.hp1 NA18944.hp1 NA18951.hp2 NA18999.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0009 a0001c0002t0006 a0001c0003t0009 others(1): Show a0001c0001t0009 a0001c0002t0006 a0001c0003t0009 a0001c0007t0009	a0001c0001t0009g0246 a0001c0002t0006g0070 a0001c0002t0006g0071 others(6): Show a0001c0001t0009g0246 a0001c0002t0006g0070 a0001c0002t0006g0071 a0001c0002t0006g0127 a0001c0003t0009g0202 a0001c0003t0009g0204 a0001c0003t0009g0210 a0001c0003t0009g0211 a0001c0007t0009g0255	9	266	0.0338	30	c.24 others(45): Show c.24+309_*24+310insACACACACACACACACACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82958862	T T	TGTGTGTG others(23): Show TGTGTGTGTGTATACTGTGTGGGGGTGTATG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	266	0.0038	30	c.681 others(47): Show c.681-1369_681-1368insCATACACCCCCACACAGTATACACACAC AC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82958926	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTACACTGGGGGTGTATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03492.hp2 NA18973.hp1 HG00408.hp2 HG03492.hp2 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0016 a0001c0002 a0001c0006 a0001c0016	a0001c0002t0006 a0001c0006t0002 a0001c0016t0001 a0001c0002t0006 a0001c0006t0002 a0001c0016t0001	a0001c0002t0006g0107 a0001c0006t0002g0040 a0001c0016t0001g0009 a0001c0002t0006g0107 a0001c0006t0002g0040 a0001c0016t0001g0009	3	266	0.0113	30	c.681 others(47): Show c.681-1433_681-1432insCATACACCCCCAGTGTACACACACACAC AC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0244 a0001c0001t0008g0244	1	394	0.0025	30	c.170 others(49): Show c.170-34281_170-34280insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374700	G G	GGGAAGGG others(23): Show GGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(24): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG01070.hp2 HG01071.hp2 HG01255.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01934.hp1 HG01993.hp2 HG02132.hp1 HG02300.hp1 HG02683.hp1 HG02723.hp2 HG02976.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp2 NA18952.hp1 NA18963.hp2 NA19085.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0022	a0001c0003 a0002c0002 a0002c0032 others(2): Show a0001c0003 a0002c0002 a0002c0032 a0005c0009 a0022c0029	a0001c0003t0001 a0002c0002t0001 a0002c0002t0003 others(4): Show a0001c0003t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0032t0001 a0005c0009t0001 a0022c0029t0001	a0001c0003t0001g0105 a0002c0002t0001g0003 a0002c0002t0001g0004 others(24): Show a0001c0003t0001g0105 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0115 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0003g0140 a0002c0002t0006g0153 a0002c0032t0001g0121 a0005c0009t0001g0138 a0022c0029t0001g0135	27	184	0.1467	30	c.784 others(45): Show c.784-747_784-746insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374760	A A	AGGAAGGG others(23): Show AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0054 a0002c0007t0001g0054	1	184	0.0054	30	c.784 others(45): Show c.784-687_784-686insTGGAAGGGAGGGAGGTGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374952	G G	GAGGGAGG others(23): Show GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	184	0.0054	30	c.784 others(45): Show c.784-482_784-453dupAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375020	G G	GAGGGAGG others(23): Show GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0085 a0001c0005t0002g0085	1	184	0.0054	30	c.784 others(45): Show c.784-434_784-433insAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

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