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
ATXN7L3B_chr12_74532835_74550430	74536670	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	2	0.5000	26	c.-14 others(37): Show c.-1443_-1442insTTTTTTTTTTTTTTTTTTTTTTTTTT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		1164		chr12	TogoVar
AURKAIP1_chr1_1368736_1380207	1369803	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	26	c.39 others(37): Show c.3997_*3998insAAAAAAAAAAAAAAAAAAAAAAAAAA	AURKAIP1	ENSG00000175756.14	transcript	ENST00000338338.10	protein_coding		3932		chr1	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(19): Show TATATATATATATACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	213	0.0047	26	c.-41 others(37): Show c.-4104_-4103insGTGTGTGTGTGTGTATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(19): Show TATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 NA20805.hp1 HG00280.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	214	0.0093	26	c.-41 others(37): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	213	0.0047	26	c.-41 others(37): Show c.-4104_-4103insGTGTGTGTATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01081.hp2 others(21): Show HG00280.hp1 HG01070.hp1 HG01081.hp2 HG01433.hp2 HG01516.hp2 HG01952.hp1 HG02040.hp1 HG02109.hp1 HG02129.hp1 HG02258.hp1 HG02735.hp1 HG03688.hp2 HG03942.hp1 NA18747.hp1 NA18946.hp1 NA18967.hp1 NA18970.hp2 NA18982.hp2 NA18983.hp2 NA19000.hp2 NA19007.hp1 NA19058.hp2 NA19088.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0003g0002	24	110	0.2182	26	c.41 others(37): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 NA18952.hp1 HG01243.hp2 HG02258.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0003t0008 a0001c0007t0006 a0001c0001t0002 a0001c0003t0008 a0001c0007t0006	a0001c0001t0002g0067 a0001c0003t0008g0039 a0001c0007t0006g0027 a0001c0001t0002g0067 a0001c0003t0008g0039 a0001c0007t0006g0027	3	21	0.1429	26	c.310 others(45): Show c.310-28820_310-28819insATATATATATATATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70004285	T T	TATGTGAA others(19): Show TATGTGAATATATTATATATTCATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG03017.hp2 others(2): Show HG00099.hp2 HG01175.hp2 HG03017.hp2 HG03704.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0002c0002t0024	a0001c0001t0005g0020 a0001c0001t0009g0023 a0001c0001t0028g0021 others(2): Show a0001c0001t0005g0020 a0001c0001t0009g0023 a0001c0001t0028g0021 a0001c0001t0029g0022 a0002c0002t0024g0059	5	76	0.0658	26	c.522 others(47): Show c.522+104789_522+104790insGTGAATATATTATATATTCATATA AT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70162445	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	2	0.5000	26	c.660 others(45): Show c.660+27884_660+27909dupAAAAAAAAAAAAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70245169	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0075 a0001c0001t0023g0075	1	50	0.0200	26	c.660 others(47): Show c.660+110599_660+110600insTATATATATATATATATATATATA AA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp1 HG02622.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0061 a0002c0002t0001g0057 a0001c0001t0003g0061 a0002c0002t0001g0057	2	9	0.2222	26	c.691 others(47): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AA	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(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	6	0.1667	26	c.446 others(45): Show c.446-23491_446-23466dupAAAAAAAAAAAAAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(19): Show CACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	188	0.0053	26	c.446 others(45): Show c.446-57530_446-57529insCTGTGTGTGTGTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18952.hp2 NA18963.hp2 others(2): Show HG02080.hp1 NA18952.hp2 NA18963.hp2 NA19081.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0026 a0001c0001t0028 others(1): Show a0001c0001t0010 a0001c0001t0026 a0001c0001t0028 a0001c0001t0073	a0001c0001t0010g0266 a0001c0001t0010g0268 a0001c0001t0026g0282 others(2): Show a0001c0001t0010g0266 a0001c0001t0010g0268 a0001c0001t0026g0282 a0001c0001t0028g0265 a0001c0001t0073g0287	5	99	0.0505	26	c.93+ others(41): Show c.93+7566_93+7567insCACACACACACACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02922.hp2 HG03927.hp1 others(5): Show HG01975.hp1 HG02922.hp2 HG03927.hp1 NA18957.hp2 NA18970.hp2 NA19004.hp2 NA19077.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0024 a0002c0002t0001g0017 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0024 a0002c0002t0001g0017 a0002c0002t0002g0001 a0002c0002t0002g0025	8	178	0.0449	26	c.287 others(41): Show c.287+713_287+738dupACACACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAACT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	130	0.0077	26	c.209 others(45): Show c.2091+2920_2091+2921insAAAAAAAAAAAAAAAAAAAAAACTAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	C C	CTTTTCTT others(19): Show CTTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0269 a0001c0003t0001g0269	1	168	0.0060	26	c.209 others(45): Show c.2092-2904_2092-2903insTTTTCTTTCTTTCTTTCTTTCTTTCT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25			chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	C C	CTTTTCTT others(19): Show CTTTTCTTTCTTTCTTTCTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02451.hp2 NA18950.hp1 others(2): Show HG01175.hp2 HG02451.hp2 NA18950.hp1 NA19000.hp1 NA19006.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0211 a0001c0003t0001g0272 a0001c0003t0001g0278 others(2): Show a0001c0003t0001g0211 a0001c0003t0001g0272 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0287	5	172	0.0291	26	c.209 others(45): Show c.2092-2904_2092-2903insTTTTCTTTCTTTCTTTCTTTCTTTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25			chr1	TogoVar
AXIN1_chr16_282440_357723	326394	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp2 HG02258.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0014 a0001c0003t0003 a0001c0004t0014	a0001c0003t0003g0049 a0001c0004t0014g0084 a0001c0003t0003g0049 a0001c0004t0014g0084	2	356	0.0056	26	c.879 others(45): Show c.879-11712_879-11711insGTGTGTATATATATATATATATATAT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AZU1_chr19_822837_837018	829936	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	146	0.0068	26	c.360 others(41): Show c.360+244_360+269dupGTGTGTGTGTGTGTGTGTGTGTGTGT	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167303682	C C	CACACACA others(19): Show CACACACACACACACACACACACATAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	26	0.0385	26	c.-51 others(47): Show c.-511+10349_-511+10350insCACACACACACACACACACACATA GA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167512592	G G	GTATATAT others(19): Show GTATATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	61	0.0164	26	c.-41 others(47): Show c.-410+22316_-410+22317insATATATATATGTGTATATATATAT AT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167521985	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	113	0.0088	26	c.-41 others(47): Show c.-410+31729_-410+31730insTACACATATATATATATATATATA TA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167779150	T T	TCTTCACC others(19): Show TCTTCACCCATTCATAGAATGTTACTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG00741.hp1 others(63): Show HG00558.hp2 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG02004.hp2 HG02040.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18968.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0002t0012 a0001c0003t0041	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0023 others(63): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0113 a0001c0001t0003g0002 a0001c0001t0003g0038 a0001c0001t0003g0059 a0001c0001t0003g0112 a0001c0001t0004g0013 a0001c0001t0004g0061 a0001c0001t0004g0064 a0001c0001t0004g0111 a0001c0001t0005g0012 a0001c0001t0005g0024 a0001c0001t0005g0051 a0001c0001t0005g0058 a0001c0001t0006g0106 a0001c0001t0007g0102 a0001c0001t0008g0080 a0001c0001t0009g0031 a0001c0001t0010g0107 a0001c0001t0011g0009 a0001c0001t0011g0092 a0001c0001t0012g0050 a0001c0001t0013g0056 a0001c0001t0014g0039 a0001c0001t0014g0066 a0001c0001t0015g0017 a0001c0001t0015g0026 a0001c0001t0016g0053 a0001c0001t0016g0077 a0001c0001t0017g0088 a0001c0001t0017g0099 a0001c0001t0019g0020 a0001c0001t0022g0047 a0001c0001t0023g0037 a0001c0001t0024g0004 a0001c0001t0025g0008 a0001c0001t0027g0036 a0001c0001t0028g0072 a0001c0001t0029g0057 a0001c0001t0030g0016 a0001c0001t0032g0103 a0001c0001t0034g0044 a0001c0001t0035g0025 a0001c0001t0038g0109 a0001c0001t0040g0086 a0001c0001t0042g0045 a0001c0001t0044g0019 a0001c0001t0045g0021 a0001c0002t0012g0090 a0001c0003t0041g0115	66	116	0.5690	26	c.-35 others(47): Show c.-351-39521_-351-39520insTTCACCCATTCATAGAATGTTACT AC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39639391	C C	CTTCCTTC others(19): Show CTTCCTTCCTTCCTTCCTTCTTTCTCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0260 a0001c0001t0005g0260	1	275	0.0036	26	c.-39 others(45): Show c.-391-6998_-391-6997insCTTCCTTCCTTCCTTCTTTCTCTTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639446	T T	TTCTTTTT others(19): Show TTCTTTTTTTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02683.hp1 HG01167.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0071 a0001c0001t0009 a0001c0001t0071	a0001c0001t0009g0090 a0001c0001t0071g0183 a0001c0001t0009g0090 a0001c0001t0071g0183	2	328	0.0061	26	c.-39 others(45): Show c.-391-6941_-391-6940insTTTTCTTTCTCTCTCTCTCTCTCTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GLCT_chr13_31194975_31337276	31196186	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	113	0.0088	26	c.-38 others(37): Show c.-3899_-3898insATATATATATATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3788		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	39	0.0256	26	c.-38 others(37): Show c.-3878_-3877insTATATATATATATATATATATTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	39	0.0256	26	c.-38 others(37): Show c.-3878_-3877insTATATATATATATATTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA18978.hp2 HG02698.hp2 NA18978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0090 a0002c0002t0002g0139 a0001c0001t0001g0090 a0002c0002t0002g0139	2	40	0.0500	26	c.-38 others(37): Show c.-3878_-3877insTATATATATATATTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp1 HG01346.hp1 others(5): Show HG00099.hp2 HG01071.hp1 HG01346.hp1 HG01346.hp2 HG01981.hp2 HG03225.hp1 HG06807.hp2 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0087 others(5): Show a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0188 a0001c0001t0001g0222 a0001c0001t0001g0235 a0002c0002t0002g0261	8	65	0.1231	26	c.106 others(45): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA	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(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG04115.hp1 NA18947.hp2 others(2): Show HG00597.hp2 HG04115.hp1 NA18947.hp2 NA18948.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0021 a0001c0003t0003 a0001c0001t0003 a0001c0001t0021 a0001c0003t0003	a0001c0001t0003g0099 a0001c0001t0003g0129 a0001c0001t0021g0196 others(2): Show a0001c0001t0003g0099 a0001c0001t0003g0129 a0001c0001t0021g0196 a0001c0001t0021g0202 a0001c0003t0003g0110	5	94	0.0532	26	c.-50 others(41): Show c.-50-638_-50-613dupGTGTGTGTGTGTGTGTGTGTGTGTGT	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(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp2 HG02486.hp2 others(6): Show HG00735.hp2 HG01257.hp2 HG02486.hp2 HG02572.hp1 HG02886.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0228 others(4): Show a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0004g0021 a0001c0001t0004g0125 a0001c0001t0004g0161 a0001c0001t0004g0164	9	193	0.0466	26	c.-30 others(43): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82940221	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0244 a0001c0007t0004g0244	1	62	0.0161	26	c.38 others(37): Show c.3852_*3853insTGTGTGTGTGTGTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1927		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03225.hp1 HG03017.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0009 a0001c0006t0011 a0001c0003t0009 a0001c0006t0011	a0001c0003t0009g0222 a0001c0006t0011g0016 a0001c0003t0009g0222 a0001c0006t0011g0016	2	76	0.0263	26	c.24 others(41): Show c.24+309_*24+310insACACACACACACACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83025470	G G	GGAGAGTC others(19): Show GGAGAGTCCACACACGGACACCGCGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG02132.hp2 others(5): Show HG00438.hp1 HG01891.hp1 HG02132.hp2 HG02165.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0005 a0001c0001 a0001c0014 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0002c0005t0003	a0001c0001t0001g0052 a0001c0001t0001g0178 a0001c0001t0002g0059 others(5): Show a0001c0001t0001g0052 a0001c0001t0001g0178 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0014t0001g0013 a0002c0005t0003g0056 a0002c0005t0003g0057 a0002c0005t0003g0058	8	265	0.0302	26	c.297 others(43): Show c.297+9564_297+9565insTCCGCGGTGTCCGTGTGTGGACTCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02155.hp1 HG03704.hp2 others(6): Show HG01261.hp2 HG02155.hp1 HG03704.hp2 NA18955.hp1 NA18981.hp1 NA18988.hp2 NA18995.hp2 NA18998.hp2 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0025	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005 a0025c0029	a0001c0001t0004 a0001c0001t0006 a0001c0001t0056 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0056 a0001c0002t0009 a0002c0003t0003 a0002c0003t0076 a0004c0005t0085 a0025c0029t0003	a0001c0001t0004g0372 a0001c0001t0006g0051 a0001c0001t0056g0150 others(6): Show a0001c0001t0004g0372 a0001c0001t0006g0051 a0001c0001t0056g0150 a0001c0002t0009g0299 a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0076g0155 a0004c0005t0085g0081 a0025c0029t0003g0365	9	29	0.3103	26	c.170 others(45): Show c.170-34281_170-34280insTTTTTTTTTTTTTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374688	G G	GAGGGAGG others(19): Show GAGGGAGGAGGAAGGGAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0103 a0009c0012t0001g0103	1	155	0.0065	26	c.784 others(41): Show c.784-766_784-765insAGGAAGGGAGGGAGGGGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374842	G G	GAGGGAGG others(19): Show GAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	136	0.0074	26	c.784 others(41): Show c.784-612_784-611insAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374846	G G	GAGGAGGA others(19): Show GAGGAGGAAGGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01070.hp2 others(5): Show HG00099.hp2 HG00140.hp1 HG01070.hp2 HG01071.hp2 HG01358.hp2 HG03239.hp1 HG03927.hp1 HG06807.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0003 a0002c0002 a0007c0011 a0001c0003 a0002c0002 a0007c0011	a0001c0003t0001 a0002c0002t0001 a0007c0011t0001 a0001c0003t0001 a0002c0002t0001 a0007c0011t0001	a0001c0003t0001g0136 a0002c0002t0001g0140 a0002c0002t0001g0141 others(5): Show a0001c0003t0001g0136 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0152 a0002c0002t0001g0155 a0007c0011t0001g0150	8	169	0.0473	26	c.784 others(41): Show c.784-612_784-611insAGGAAGGGAGGGAGGGAGGAGGAAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374899	G G	GAGGGAGG others(19): Show GAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0042 a0004c0042	a0004c0042t0001 a0004c0042t0001	a0004c0042t0001g0031 a0004c0042t0001g0031	1	138	0.0072	26	c.784 others(41): Show c.784-555_784-554insAGGAAGGGAGGGAGGAGGAAGGGAGG	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(19): Show GAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03516.hp2 HG03098.hp1 HG03516.hp2	a0006 a0007 a0006 a0007	a0006c0007 a0007c0011 a0006c0007 a0007c0011	a0006c0007t0001 a0007c0011t0001 a0006c0007t0001 a0007c0011t0001	a0006c0007t0001g0132 a0007c0011t0001g0068 a0006c0007t0001g0132 a0007c0011t0001g0068	2	127	0.0157	26	c.784 others(41): Show c.784-502_784-501insAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(19): Show GAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	123	0.0081	26	c.784 others(41): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(19): Show GAGGGAGGTGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0042 a0004c0042	a0004c0042t0001 a0004c0042t0001	a0004c0042t0001g0031 a0004c0042t0001g0031	1	123	0.0081	26	c.784 others(41): Show c.784-453_784-452insTGGAAGGGAGGGAGGAGGAAGGGAGG	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(19): Show GAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp2 HG02148.hp1 others(2): Show HG01891.hp1 HG01952.hp2 HG02148.hp1 HG02559.hp2 NA19005.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0006c0007t0001	a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0004g0016 others(2): Show a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0004g0016 a0001c0001t0005g0171 a0006c0007t0001g0041	5	87	0.0575	26	c.784 others(41): Show c.784-434_784-433insAGGAAGGGAGGGAGGAGGAAGGGAGG	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(19): Show GAGGGAGGAGGAAGGGAGGGAGGTGGA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	83	0.0120	26	c.784 others(41): Show c.784-434_784-433insAGGAAGGGAGGGAGGTGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375215	A A	AGGGAGGG others(19): Show AGGGAGGGGAGGGGAGGAGGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0077 a0003c0006t0001g0077	1	181	0.0055	26	c.784 others(41): Show c.784-246_784-245insGGGAGGGGAGGGGAGGAGGGAGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33150152	C C	CACACATA others(19): Show CACACATACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18962.hp1 HG02165.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0184 a0001c0002t0007g0187 a0001c0002t0007g0184 a0001c0002t0007g0187	2	364	0.0055	26	c.413 others(45): Show c.413-14729_413-14728insATATATATGTGTGTGTGTGTATGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02647.hp1 others(6): Show HG01069.hp2 HG01071.hp2 HG02647.hp1 HG02922.hp2 NA18978.hp1 NA18988.hp1 NA19006.hp1 NA19010.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0002t0012	a0001c0001t0002g0013 a0001c0001t0002g0273 a0001c0001t0002g0274 others(5): Show a0001c0001t0002g0013 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0279 a0001c0001t0004g0263 a0001c0001t0011g0261 a0001c0001t0011g0262 a0001c0002t0012g0285	9	39	0.2308	26	c.412 others(43): Show c.412+9669_412+9694dupGTGTGTGTGTGTGTGTGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT2_chr1_43974210_43996168	43978333	G G	GAGGAAGG others(19): Show GAGGAAGGGTAAAGAGGCCTGTACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0080 a0001c0001t0006g0080	1	404	0.0025	26	c.-12 others(37): Show c.-1231_-1230insAGGAAGGGTAAAGAGGCCTGTACGCC	B4GALT2	ENSG00000117411.18	transcript	ENST00000372324.6	protein_coding		876		chr1	TogoVar

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