Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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	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
B4GALNT4_chr11_364499_387117	375032	T T	TGGAAGGG others(23): Show TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	184	0.0054	30	c.784 others(45): Show c.784-400_784-399insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375035	A A	GAGGGAGG others(23): Show GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0083 a0001c0005t0002g0083	1	184	0.0054	30	c.784 others(45): Show c.784-427_784-426insGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
B4GALNT4_chr11_364499_387117	375062	T T	AGGAAGGG others(23): Show AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	184	0.0054	30	c.784 others(45): Show c.784-400_784-399insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
B4GALNT4_chr11_364499_387117	375107	A A	AGGAAGGG others(23): Show AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0024 a0024	a0024c0036 a0024c0036	a0024c0036t0001 a0024c0036t0001	a0024c0036t0001g0023 a0024c0036t0001g0023	1	184	0.0054	30	c.784 others(45): Show c.784-325_784-324insTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375122	A A	AGGAAGGG others(23): Show AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0009 a0002c0008t0001g0009	1	184	0.0054	30	c.784 others(45): Show c.784-310_784-309insTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375167	T T	TGGAAGGG others(23): Show TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02080.hp2 others(1): Show HG01070.hp2 HG01071.hp2 HG02080.hp2 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0001c0003t0004 a0002c0002t0001 a0001c0003t0001 a0001c0003t0004 a0002c0002t0001	a0001c0003t0001g0176 a0001c0003t0004g0010 a0002c0002t0001g0149 others(1): Show a0001c0003t0001g0176 a0001c0003t0004g0010 a0002c0002t0001g0149 a0002c0002t0001g0151	4	184	0.0217	30	c.784 others(45): Show c.784-274_784-245dupGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375167	T T	TGGAAGGG others(23): Show TGGAAGGGAGGGAGGTGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0012 a0016c0024t0001g0012	1	184	0.0054	30	c.784 others(45): Show c.784-280_784-279insTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375203	G G	GGAGGGAG others(23): Show GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0113 a0002c0004t0001g0113	1	184	0.0054	30	c.784 others(45): Show c.784-245_784-244insGGGAGGGAGGAGGAAGAGAGGGAGGAGGAA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19091.hp1 HG02055.hp2 NA19091.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0020 a0006c0007t0002 a0001c0001t0020 a0006c0007t0002	a0001c0001t0020g0286 a0006c0007t0002g0350 a0001c0001t0020g0286 a0006c0007t0002g0350	2	366	0.0055	30	c.412 others(47): Show c.412+9665_412+9694dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
BABAM2_chr2_27885729_28343901	28196321	C C	CGTCTCAA others(23): Show CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp2 HG02145.hp1 others(1): Show HG01081.hp2 HG01192.hp2 HG02145.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0001g0086	4	158	0.0253	30	c.681 others(49): Show c.681-40881_681-40880insGTCTCAAAAAAAAAAAAAAAAAAAAA AAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0050 a0001c0001t0012g0050	1	194	0.0052	30	c.-16 others(49): Show c.-161-3183_-161-3182insATATATATATATATATATATATTTTT TTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81418810	C C	CGCGCATG others(23): Show CGCGCATGTGTGTGTGTGTACGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0002 a0003c0018t0002	a0003c0018t0002g0210 a0003c0018t0002g0210	1	332	0.0030	30	c.179 others(47): Show c.179-7989_179-7988insCGCATGTGTGTGTGTGTACGTGTGTGTG TG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81457577	A A	AGGCAGGG others(23): Show AGGCAGGGGTTGCTAGGTAACCAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0027 a0027	a0027c0088 a0027c0088	a0027c0088t0004 a0027c0088t0004	a0027c0088t0004g0165 a0027c0088t0004g0165	1	332	0.0030	30	c.502 others(42): Show c.5028_5041+16dupGCAGGGGTTGCTAGGTAACCAGGAGGGAGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98353594	T T	TATGTATA others(23): Show TATGTATATTATATGTATATTTATAATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0295 a0003c0010t0003g0295	1	298	0.0034	30	c.214 others(47): Show c.214+1418_214+1447dupGTATATTATAAATATACATATAATATAC AT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	3/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0257 a0001c0003t0003g0257	1	298	0.0034	30	c.128 others(47): Show c.128-1893_128-1892insATATATATATATATTTTTTTTTTTTTTT TT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18942.hp1 HG03704.hp2 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0199 a0001c0002t0001g0156 a0001c0002t0001g0199	2	298	0.0067	30	c.128 others(47): Show c.128-1893_128-1892insATATATATATATATATATATTTTTTTTT TT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	298	0.0034	30	c.128 others(47): Show c.128-1893_128-1892insATATATATATATATATATATATTTTTTT TT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(23): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02148.hp2 HG03688.hp1 HG01168.hp1 HG02148.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0083 a0002c0002t0002g0064 a0002c0002t0002g0067 a0001c0001t0004g0083 a0002c0002t0002g0064 a0002c0002t0002g0067	3	376	0.0080	30	c.130 others(47): Show c.130+1826_130+1827insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	436	0.0023	30	c.15 others(41): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BANF2_chr20_17694966_17740871	17710063	T T	TATCACCT others(23): Show TATCACCTAATGTGGGACAGGCCCGGATGTG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	400	0.0025	30	c.-16 others(51): Show c.-167+10031_-167+10032insGGATGTGATCACCTAATGTGGGAC AGGCCC	BANF2	ENSG00000125888.15	transcript	ENST00000246090.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
BANK1_chr4_101785730_102079812	101936260	C C	CATGTATG others(23): Show CATGTATGCATACATGTATATGTACACATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00733.hp1 others(50): Show HG00408.hp1 HG00597.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG03491.hp2 HG03704.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18966.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18989.hp1 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19091.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0003 a0002c0019 others(3): Show a0001c0001 a0002c0003 a0002c0019 a0007c0008 a0007c0016 a0008c0014	a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 others(4): Show a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0002c0019t0002 a0007c0008t0002 a0007c0016t0002 a0008c0014t0002	a0001c0001t0002g0024 a0001c0001t0002g0089 a0002c0003t0001g0164 others(50): Show a0001c0001t0002g0024 a0001c0001t0002g0089 a0002c0003t0001g0164 a0002c0003t0001g0172 a0002c0003t0001g0189 a0002c0003t0001g0207 a0002c0003t0001g0221 a0002c0003t0001g0224 a0002c0003t0001g0229 a0002c0003t0002g0007 a0002c0003t0002g0038 a0002c0003t0002g0176 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0194 a0002c0003t0002g0196 a0002c0003t0002g0197 a0002c0003t0002g0198 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0222 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0227 a0002c0003t0002g0228 a0002c0003t0002g0230 a0002c0003t0002g0231 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0019t0002g0039 a0007c0008t0002g0008 a0007c0008t0002g0009 a0007c0008t0002g0013 a0007c0008t0002g0269 a0007c0008t0002g0274 a0007c0008t0002g0275 a0007c0016t0002g0273 a0008c0014t0002g0218	53	284	0.1866	30	c.120 others(51): Show c.1206+18075_1206+18104dupTATGCATACATGTATATGTACACA TATATG	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02622.hp1 HG02647.hp2 others(4): Show HG01975.hp2 HG02622.hp1 HG02647.hp2 HG06807.hp2 NA18990.hp1 NA18998.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0005c0006t0003	a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0003g0027 others(4): Show a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0003g0027 a0001c0001t0004g0216 a0001c0002t0001g0170 a0001c0002t0003g0166 a0005c0006t0003g0264	7	284	0.0247	30	c.120 others(51): Show c.1206+29123_1206+29124insATATATATATATATATATATATAT ATGTAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102003925	G G	GTATATGT others(23): Show GTATATGTGTATATACGTATATATACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0236 a0002c0003t0002g0236	1	284	0.0035	30	c.120 others(51): Show c.1207-17576_1207-17547dupTACGTATATATACACACATATATG TGTATA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007092	A A	ATATATTT others(23): Show ATATATTTATATATATATAAATATATTATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp1 HG02965.hp2 others(5): Show HG01109.hp2 HG02965.hp1 HG02965.hp2 HG03225.hp1 HG03486.hp2 HG06807.hp2 NA19240.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0005c0006t0004	a0001c0001t0001g0093 a0001c0001t0001g0239 a0001c0001t0003g0016 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0239 a0001c0001t0003g0016 a0001c0001t0003g0138 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0002t0003g0144 a0005c0006t0004g0123	8	284	0.0282	30	c.120 others(51): Show c.1207-14422_1207-14421insTATATTTATATATATATAAATATA TTATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16			chr4	TogoVar

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