Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AXIN1_chr16_282440_357723	320817	A A	ACAACCTC others(13): Show ACAACCTCCGCCTCCTGGGTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0307 a0001c0001t0001g0310	2	376	0.0053	20	c.879 others(37): Show c.879-6154_879-6135dupAACCCAGGAGGCGGAGGTTG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN2_chr17_65523563_65566648	65554068	A A	ACCTTCAG others(13): Show ACCTTCAGGGAAAGGAGGTGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02922.hp1 HG01099.hp2 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0001 a0001c0010t0001 a0001c0005t0001 a0001c0010t0001	a0001c0005t0001g0250 a0001c0010t0001g0251 a0001c0005t0001g0250 a0001c0010t0001g0251	2	400	0.0050	20	c.815 others(37): Show c.815+3718_815+3737dupGCACCTCCTTTCCCTGAAGG	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	2/10			chr17	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02809.hp2 HG00738.hp1 HG00738.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0057 a0001c0001t0034 a0001c0001t0057	a0001c0001t0034g0034 a0001c0001t0034g0107 a0001c0001t0057g0013 a0001c0001t0034g0034 a0001c0001t0034g0107 a0001c0001t0057g0013	3	50	0.0600	20	c.40 others(29): Show c.406_*425dupTTTTTTTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	426	INFO_REALIGN_3_PRIME	chr19	TogoVar
AZIN2_chr1_33076153_33128492	33077365	C C	CAATTCAA others(13): Show CAATTCAACCCATAACATGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	20	c.-43 others(31): Show c.-4335_-4334insAATTCAACCCATAACATGGG	AZIN2	ENSG00000142920.18	transcript	ENST00000294517.11	protein_coding		3787		chr1	TogoVar
AZU1_chr19_822837_837018	836288	C C	CAGAGAGA others(13): Show CAGAGAGAGACAAAGACAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(46): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00738.hp1 HG00741.hp2 HG01106.hp2 HG01175.hp2 HG01258.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG02056.hp2 HG02074.hp2 HG02148.hp2 HG02165.hp2 HG02630.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp2 NA18747.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18955.hp2 NA18964.hp2 NA18970.hp1 NA18982.hp1 NA18985.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19056.hp2 NA19066.hp2 NA19079.hp1 NA19086.hp1 NA20129.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0002c0005 a0009c0016	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0002c0005t0001 a0009c0016t0005	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0002t0001g0002 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0021 a0001c0002t0002g0004 a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0014 a0001c0007t0001g0010 a0001c0008t0001g0003 a0002c0005t0001g0012 a0009c0016t0005g0029	49	121	0.4050	20	c.44 others(31): Show c.4411_*4412insAGAGAGAGACAAAGACAGAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4271		chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167548689	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0004 a0001c0001t0024g0004	1	116	0.0086	20	c.-41 others(41): Show c.-410+58429_-410+58430insAGAGTGTGTGTGTGTGTGTG	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(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	32	0.0313	20	c.-40 others(41): Show c.-409-20942_-409-20923dupATATATATATATATATATAT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167662102	G G	GCTGCTTT others(13): Show GCTGCTTTTACAGCTGAATTA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0063 a0001c0001t0020g0063	1	116	0.0086	20	c.-35 others(41): Show c.-352+15137_-352+15138insTGCTTTTACAGCTGAATTAC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39636297	A A	ATCACAAC others(13): Show ATCACAACAGTGAGACCATGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0148 a0001c0001t0051g0148	1	334	0.0030	20	c.-39 others(41): Show c.-391-10093_-391-10074dupCACAACAGTGAGACCATGCT	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(13): Show TTTCTTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0006 a0002c0002t0037g0006	2	225	0.0089	20	c.-39 others(39): Show c.-391-7042_-391-7041insTTTCTTTCCTTCCTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639350	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0087 a0001c0001t0009g0087	1	328	0.0030	20	c.-39 others(39): Show c.-391-7042_-391-7041insTTTCTTTCTTTCTTTCTTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3			chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639391	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0096 a0001c0001t0064g0096	1	275	0.0036	20	c.-39 others(39): Show c.-391-6998_-391-6997insCTTCCTTCCTTCCTTCTTTC	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(13): Show TTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	175	0.0057	20	c.-39 others(39): Show c.-391-6991_-391-6990insCTTTTTCTTTCTTTCTTTCT	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(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	175	0.0057	20	c.-39 others(39): Show c.-391-6956_-391-6937dupCTTTCTTTCTTTCTTTCTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GAT1_chr11_134373508_134417242	134412106	G G	GGGGGAGC others(13): Show GGGGGAGCGGGGAGGGGGAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0309 a0001c0001t0056g0309	1	349	0.0029	20	c.-60 others(29): Show c.-601_-582dupGCTCCCCCTCCCCGCTCCCC	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/6	24448		chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134412108	G G	GGGAGCGG others(13): Show GGGAGCGGGGAGGGGGGAGGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(240): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0035 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0003t0001 a0001c0003t0004 a0001c0003t0048 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(204): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0074 a0001c0001t0003g0084 a0001c0001t0003g0090 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0104 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0157 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0171 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0180 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0201 a0001c0001t0003g0210 a0001c0001t0004g0006 a0001c0001t0004g0029 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0244 a0001c0001t0007g0010 a0001c0001t0007g0022 a0001c0001t0007g0101 a0001c0001t0007g0108 a0001c0001t0007g0126 a0001c0001t0007g0170 a0001c0001t0007g0182 a0001c0001t0007g0199 a0001c0001t0007g0208 a0001c0001t0008g0019 a0001c0001t0008g0023 a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0153 a0001c0001t0008g0192 a0001c0001t0009g0215 a0001c0001t0009g0216 a0001c0001t0009g0217 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0009g0221 a0001c0001t0010g0011 a0001c0001t0010g0075 a0001c0001t0010g0174 a0001c0001t0010g0209 a0001c0001t0012g0238 a0001c0001t0012g0240 a0001c0001t0012g0241 a0001c0001t0012g0245 a0001c0001t0017g0039 a0001c0001t0017g0040 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0020g0083 a0001c0001t0020g0125 a0001c0001t0021g0072 a0001c0001t0021g0105 a0001c0001t0022g0232 a0001c0001t0022g0233 a0001c0001t0027g0034 a0001c0001t0028g0037 a0001c0001t0029g0038 a0001c0001t0035g0048 a0001c0001t0039g0200 a0001c0001t0040g0133 a0001c0001t0041g0107 a0001c0001t0042g0168 a0001c0001t0043g0149 a0001c0001t0044g0073 a0001c0001t0045g0202 a0001c0001t0046g0220 a0001c0001t0047g0222 a0001c0003t0001g0212 a0001c0003t0004g0224 a0001c0003t0004g0225 a0001c0003t0004g0226 a0001c0003t0004g0242 a0001c0003t0048g0243 a0002c0002t0001g0027 a0002c0002t0001g0095 a0002c0002t0001g0175 a0002c0002t0001g0179 a0002c0002t0001g0198 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0211 a0003c0004t0001g0156	243	316	0.7690	20	c.-58 others(29): Show c.-584_-583insACCTCCCCCCTCCCCGCTCC	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/6	24450		chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134412108	G G	GGGAGCGG others(13): Show GGGAGCGGGGAGTGGGGAGGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0045 a0001c0001t0032g0045	1	74	0.0135	20	c.-58 others(29): Show c.-584_-583insACCTCCCCACTCCCCGCTCC	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/6	24450		chr11	TogoVar
B3GAT2_chr6_70851679_70962060	70879480	G G	GATTCATT others(13): Show GATTCATTCATTCATTCATTC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA20300.hp2 NA18951.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0092 a0001c0001t0004 a0001c0002t0092	a0001c0001t0004g0053 a0001c0002t0092g0264 a0001c0001t0004g0053 a0001c0002t0092g0264	2	239	0.0084	20	c.736 others(39): Show c.736+14628_736+14647dupGAATGAATGAATGAATGAAT	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	2/3			chr6	TogoVar
B3GAT2_chr6_70851679_70962060	70902617	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18981.hp2 NA19012.hp1 others(1): Show HG02135.hp1 NA18981.hp2 NA19012.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0029 a0001c0002t0090 a0001c0002t0022 a0001c0002t0029 a0001c0002t0090	a0001c0002t0022g0265 a0001c0002t0022g0268 a0001c0002t0029g0299 others(1): Show a0001c0002t0022g0265 a0001c0002t0022g0268 a0001c0002t0029g0299 a0001c0002t0090g0300	4	110	0.0364	20	c.592 others(37): Show c.592-8365_592-8346dupATATATATATATATATATAT	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/3			chr6	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	39	0.0256	20	c.-38 others(31): Show c.-3878_-3877insTATATATATATATATTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0058 a0001c0001t0006g0058	1	39	0.0256	20	c.-38 others(31): Show c.-3878_-3877insTATATATATATATTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp2 HG01952.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0157 a0001c0001t0006g0147 a0001c0001t0001g0157 a0001c0001t0006g0147	2	40	0.0500	20	c.-38 others(31): Show c.-3878_-3877insTATATATATTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31213608	A A	ACCCCCCC others(13): Show ACCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	263	0.0038	20	c.71- others(35): Show c.71-1436_71-1435insCCCCCCCCCCCCCCCCCCCC	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316405	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	266	0.0038	20	c.106 others(39): Show c.1065-1160_1065-1159insATATATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 NA18950.hp1 others(6): Show HG00735.hp1 HG01167.hp2 NA18950.hp1 NA18950.hp2 NA18968.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0086 a0001c0001t0001g0090 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151	9	66	0.1364	20	c.106 others(39): Show c.1065-1154_1065-1135dupTATATATATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02630.hp1 HG02647.hp2 HG01255.hp1 HG02630.hp1 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0241 a0002c0002t0003g0245 a0002c0002t0003g0253 a0002c0002t0003g0241 a0002c0002t0003g0245 a0002c0002t0003g0253	3	60	0.0500	20	c.106 others(39): Show c.1065-1158_1065-1157insTTATATATATATATATATAT	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(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp2 others(50): Show HG00099.hp2 HG00323.hp2 HG00544.hp2 HG00642.hp1 HG00733.hp1 HG01074.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01978.hp1 HG02040.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG03017.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA18939.hp1 NA18955.hp2 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18978.hp1 NA19000.hp2 NA19010.hp1 NA19012.hp2 NA19060.hp2 NA19081.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0003t0003 a0003c0004t0011 a0008c0010t0006	a0001c0001t0001g0190 a0001c0001t0002g0015 a0001c0001t0002g0051 others(43): Show a0001c0001t0001g0190 a0001c0001t0002g0015 a0001c0001t0002g0051 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0208 a0001c0001t0002g0216 a0001c0001t0003g0014 a0001c0001t0003g0026 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0090 a0001c0001t0003g0128 a0001c0001t0003g0146 a0001c0001t0003g0170 a0001c0001t0003g0237 a0001c0001t0004g0089 a0001c0001t0005g0218 a0001c0001t0005g0235 a0001c0001t0005g0239 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0249 a0001c0001t0005g0255 a0001c0001t0006g0152 a0001c0001t0006g0166 a0001c0001t0006g0176 a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0013g0049 a0001c0001t0013g0147 a0001c0001t0013g0148 a0001c0001t0013g0149 a0001c0001t0015g0047 a0001c0001t0016g0047 a0001c0001t0016g0223 a0001c0001t0017g0159 a0001c0001t0017g0161 a0001c0001t0026g0158 a0001c0003t0003g0013 a0003c0004t0011g0257 a0008c0010t0006g0151	53	142	0.3732	20	c.-50 others(35): Show c.-50-632_-50-613dupGTGTGTGTGTGTGTGTGTGT	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNT4_chr12_122198709_122213952	122211077	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	105	0.0095	20	c.36 others(31): Show c.3689_*3690insAAAAAAAAAAAAAAAAAAAA	B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding		2126		chr12	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp1 HG02071.hp2 others(9): Show HG01109.hp1 HG02027.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG03831.hp1 NA18975.hp2 NA18983.hp2 NA19005.hp2 NA19010.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0073 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0209	12	196	0.0612	20	c.-30 others(37): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82940219	G G	GCACACAC others(13): Show GCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 NA19064.hp1 HG00733.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0229 a0001c0002t0002g0111 a0001c0001t0004g0229 a0001c0002t0002g0111	2	110	0.0182	20	c.38 others(31): Show c.3854_*3855insTGTGTGTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1929		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82940221	G G	GCACACAC others(13): Show GCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA19002.hp2 HG00673.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0096 a0001c0002t0008g0124 a0001c0002t0008g0096 a0001c0002t0008g0124	2	63	0.0317	20	c.38 others(31): Show c.3833_*3852dupTGTGTGTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1927		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82940221	G G	GCGCACAC others(13): Show GCGCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA19062.hp2 NA18959.hp1 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0008 a0001c0008t0021 a0001c0002t0008 a0001c0008t0021	a0001c0002t0008g0070 a0001c0008t0021g0216 a0001c0002t0008g0070 a0001c0008t0021g0216	2	63	0.0317	20	c.38 others(31): Show c.3852_*3853insTGTGTGTGTGTGTGTGTGCG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1927		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(64): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01516.hp2 HG01934.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18944.hp2 NA18947.hp1 NA18953.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18971.hp1 NA18980.hp2 NA18983.hp1 NA19002.hp2 NA19062.hp1 NA19064.hp1 NA19080.hp2 NA19083.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0014 a0005c0028	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(20): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0022 a0001c0001t0037 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0019 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0003t0004 a0001c0003t0014 a0001c0003t0021 a0001c0004t0002 a0001c0006t0002 a0001c0006t0011 a0001c0007t0004 a0001c0008t0004 a0001c0012t0002 a0001c0014t0002 a0005c0028t0002	a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0134 others(64): Show a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0134 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0004g0229 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0250 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0014g0251 a0001c0001t0022g0233 a0001c0001t0022g0243 a0001c0001t0037g0257 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0102 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0099 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0008g0112 a0001c0002t0008g0124 a0001c0002t0010g0133 a0001c0002t0019g0116 a0001c0002t0025g0095 a0001c0002t0028g0121 a0001c0002t0029g0074 a0001c0003t0004g0189 a0001c0003t0014g0193 a0001c0003t0021g0221 a0001c0004t0002g0051 a0001c0006t0002g0032 a0001c0006t0002g0041 a0001c0006t0011g0028 a0001c0007t0004g0245 a0001c0008t0004g0212 a0001c0012t0002g0080 a0001c0014t0002g0012 a0005c0028t0002g0107	67	141	0.4752	20	c.24 others(35): Show c.24+309_*24+310insACACACACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83045806	C C	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG03225.hp2 others(4): Show HG02559.hp1 HG02886.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0011 a0004c0017 a0001c0011 a0004c0017	a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 others(2): Show a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0001c0011t0030 a0004c0017t0002	a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 others(4): Show a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0011t0017g0146 a0001c0011t0030g0144 a0004c0017t0002g0137 a0004c0017t0002g0138	7	261	0.0268	20	c.232 others(37): Show c.232+2664_232+2665insAAATAAATAAATAAATAAAT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83051272	C C	CGGGGGCG others(13): Show CGGGGGCGGGGCAGGTGCGCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0007 a0001c0006t0006g0007	1	265	0.0038	20	c.15+ others(33): Show c.15+464_15+465insCGCGCACCTGCCCCGCCCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	1/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	525086	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG00741.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0096 a0001c0001t0091 a0001c0001t0096	a0001c0001t0091g0232 a0001c0001t0096g0003 a0001c0001t0091g0232 a0001c0001t0096g0003	2	249	0.0080	20	c.170 others(39): Show c.170-10065_170-10046dupTATTTATTTATTTATTTATT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	546225	A A	AGGAGGGG others(13): Show AGGAGGGGAGTGGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0190 a0001c0001t0087g0190	1	392	0.0026	20	c.640 others(35): Show c.640-416_640-397dupGGGAGTGGGGAGGTGGGGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	546230	G G	GGGAGTGG others(13): Show GGGAGTGGGGAGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG02896.hp2 others(1): Show HG02717.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0022 a0001c0001t0002 a0001c0001t0016 a0001c0001t0022	a0001c0001t0002g0294 a0001c0001t0016g0179 a0001c0001t0022g0036 others(1): Show a0001c0001t0002g0294 a0001c0001t0016g0179 a0001c0001t0022g0036 a0001c0001t0022g0037	4	392	0.0102	20	c.640 others(35): Show c.640-410_640-391dupGGGGAGGTGGGGAGAGGAGT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	547155	C C	CGGGCGTT others(13): Show CGGGCGTTGCTGGGCGTTGCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18967.hp1 NA18971.hp2 others(5): Show NA18959.hp2 NA18967.hp1 NA18971.hp2 NA18982.hp2 NA18994.hp2 NA19000.hp2 NA19011.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0375 a0001c0001t0003g0092 a0001c0001t0003g0093 others(5): Show a0001c0001t0001g0375 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0318 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0214 a0001c0001t0005g0125	8	238	0.0336	20	c.707 others(35): Show c.707+445_707+464dupGCGTTGCTGGGCGTTGCTGG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	552292	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp1 HG02723.hp2 HG03195.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0027 a0007c0008t0007 a0007c0008t0027	a0007c0008t0007g0287 a0007c0008t0027g0143 a0007c0008t0007g0287 a0007c0008t0027g0143	2	72	0.0278	20	c.120 others(37): Show c.1209-150_1209-131dupACACACACACACACACACAC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01975.hp1 HG02572.hp2 others(8): Show HG00544.hp2 HG01975.hp1 HG02572.hp2 HG03516.hp1 NA18906.hp1 NA18945.hp1 NA18954.hp1 NA18966.hp2 NA18994.hp1 NA19080.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011	a0001c0001t0002g0012 a0001c0001t0002g0198 a0001c0001t0002g0204 others(7): Show a0001c0001t0002g0012 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0218 a0001c0001t0002g0269 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0003g0306 a0001c0001t0005g0344 a0001c0001t0011g0242	11	41	0.2683	20	c.412 others(37): Show c.412+9675_412+9694dupGTGTGTGTGTGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33157121	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19074.hp1 HG01255.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0055 a0001c0001t0010g0028 a0001c0001t0001g0055 a0001c0001t0010g0028	2	23	0.0870	20	c.412 others(37): Show c.412+9617_412+9636dupGTGTGTGTGTGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT5_chr20_49627945_49718878	49636907	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0202 a0001c0002t0026g0202	1	125	0.0080	20	c.101 others(37): Show c.1019+414_1019+433dupGTGTGTGTGTGTGTGTGTGT	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	8/8			chr20	TogoVar
B4GALT6_chr18_31617246_31689581	31688247	G G	GTATATAT others(13): Show GTATATATATACATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03486.hp1 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0221 a0001c0001t0008g0222 a0001c0001t0008g0221 a0001c0001t0008g0222	2	290	0.0069	20	c.-38 others(31): Show c.-3822_-3821insTATATATATGTATATATATA	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3667		chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31688258	T T	TACATATA others(13): Show TACATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01243.hp2 HG01257.hp2 others(35): Show HG00609.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01884.hp1 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG04228.hp1 HG04228.hp2 NA18943.hp2 NA18973.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA19005.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0038 a0002c0002t0032	a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0002g0228 others(34): Show a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0002g0228 a0001c0001t0002g0239 a0001c0001t0002g0244 a0001c0001t0002g0257 a0001c0001t0003g0168 a0001c0001t0003g0180 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0005g0169 a0001c0001t0005g0245 a0001c0001t0006g0230 a0001c0001t0006g0236 a0001c0001t0007g0008 a0001c0001t0007g0172 a0001c0001t0007g0237 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0008g0240 a0001c0001t0013g0170 a0001c0001t0016g0286 a0001c0001t0016g0287 a0001c0001t0022g0252 a0001c0001t0028g0229 a0001c0001t0031g0171 a0001c0001t0035g0243 a0001c0001t0038g0285 a0002c0002t0032g0277	38	265	0.1434	20	c.-38 others(31): Show c.-3833_-3832insGTATATATATATATATATGT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3678		chr18	TogoVar
BABAM2_chr2_27885729_28343901	28040294	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02155.hp1 HG00738.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0059 a0001c0001t0001g0073	2	14	0.1429	20	c.496 others(37): Show c.496-5426_496-5407dupTTTTTTTTTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112083	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02145.hp2 HG02572.hp1 others(2): Show HG00733.hp1 HG02145.hp2 HG02572.hp1 HG02922.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0153 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0153 a0001c0001t0002g0005 a0001c0001t0002g0038	5	82	0.0610	20	c.571 others(39): Show c.571-17142_571-17123dupCTTTCTTTCTTTCTTTCTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112185	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	136	0.0074	20	c.571 others(39): Show c.571-17083_571-17082insTCCTTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112189	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	125	0.0080	20	c.571 others(39): Show c.571-17079_571-17078insTCCTTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	4	0.2500	20	c.681 others(39): Show c.681-53447_681-53428dupACACACACACACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar

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