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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATP9B_chr18_79064394_79383283	79326211	C C	CCTTCCTC others(34): Show CCTTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0132 a0001c0015t0001g0132	1	294	0.0034	41	c.177 others(60): Show c.1774-2928_1774-2927insTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326252	C C	CCTCCCTC others(34): Show CCTCCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02451.hp2 others(5): Show HG01168.hp2 HG01169.hp2 HG02451.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03195.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0013 others(1): Show a0001c0004 a0001c0006 a0001c0013 a0002c0002	a0001c0004t0003 a0001c0006t0004 a0001c0013t0004 others(1): Show a0001c0004t0003 a0001c0006t0004 a0001c0013t0004 a0002c0002t0004	a0001c0004t0003g0113 a0001c0006t0004g0291 a0001c0006t0004g0292 others(5): Show a0001c0004t0003g0113 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0013t0004g0108 a0001c0013t0004g0111 a0002c0002t0004g0252	8	294	0.0272	41	c.177 others(60): Show c.1774-2865_1774-2864insTGTGTCATCTCTGCACACTCCCTCCC CTCACATGGTGTTAG		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326337	T T	TCCTCCCC others(34): Show TCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(77): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02129.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02615.hp1 HG02698.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18971.hp2 NA18980.hp2 NA18998.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19070.hp2 NA19077.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0010 a0013 a0014 a0016	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0017 a0001c0037 a0002c0002 a0002c0005 a0002c0033 a0003c0007 a0003c0021 a0010c0029 a0013c0022 a0014c0034 a0016c0027	a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 others(18): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0003 a0001c0006t0003 a0001c0006t0007 a0001c0010t0004 a0001c0017t0004 a0001c0037t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0005t0002 a0002c0033t0002 a0003c0007t0004 a0003c0021t0004 a0010c0029t0004 a0013c0022t0004 a0014c0034t0002 a0016c0027t0003	a0001c0001t0001g0141 a0001c0003t0002g0135 a0001c0003t0002g0149 others(77): Show a0001c0001t0001g0141 a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0138 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0096 a0001c0006t0003g0268 a0001c0006t0007g0290 a0001c0010t0004g0276 a0001c0010t0004g0295 a0001c0010t0004g0296 a0001c0017t0004g0099 a0001c0037t0003g0104 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0002g0176 a0002c0002t0002g0181 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0190 a0002c0002t0002g0193 a0002c0002t0002g0203 a0002c0002t0002g0207 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0257 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0003g0199 a0002c0002t0009g0250 a0002c0002t0009g0254 a0002c0005t0002g0204 a0002c0005t0002g0205 a0002c0005t0002g0206 a0002c0005t0002g0208 a0002c0033t0002g0212 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0281 a0003c0007t0004g0283 a0003c0007t0004g0284 a0003c0007t0004g0289 a0003c0021t0004g0285 a0010c0029t0004g0220 a0013c0022t0004g0277 a0014c0034t0002g0229 a0016c0027t0003g0139	80	100	0.8000	41	c.177 others(60): Show c.1774-2783_1774-2782insTGTGTCATCTCTGCACACTCCCTCCC CTCACATGGTGTTAG		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326371	G G	GCACACTC others(34): Show GCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG02970.hp2 HG02572.hp1 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107	3	57	0.0526	41	c.177 others(60): Show c.1774-2770_1774-2769insCACACTCCCTCCCCTCACATGGTGTT AGGGTGTCATCTCTA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29						chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326482	G G	GGTGTCAT others(34): Show GGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0003 a0006c0012t0003	a0006c0012t0003g0198 a0006c0012t0003g0219 a0006c0012t0003g0221 a0006c0012t0003g0198 a0006c0012t0003g0219 a0006c0012t0003g0221	3	296	0.0101	41	c.177 others(60): Show c.1774-2648_1774-2647insGTACCCTTCCTCCCCTCACATGGTGT TAGTGTGTCATCTCT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCGCTGC others(34): Show CGCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	frameshift_variant frameshift_variant	HIGH	HG02738.hp2 HG02738.hp2	a0037 a0037	a0037c0053 a0037c0053	a0037c0053t0042 a0037c0053t0042	a0037c0053t0042g0108 a0037c0053t0042g0108	1	286	0.0035	41	c.916 others(48): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CGC	p.Gly others(5): Show p.Gly306fs	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(34): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	52	0.0192	41	c.355 others(60): Show c.355+56855_355+56856insCTTTTCTTTCTTTTCTCTTTTCTTTT CTTTTCTTTTCTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	8	0.1250	41	c.691 others(62): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AXIN1_chr16_282440_357723	285925	T T	TCCCAACC others(34): Show TCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 NA19054.hp1 HG03239.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0002 a0001c0001t0031	a0001c0001t0002g0014 a0001c0001t0031g0057 a0001c0001t0002g0014 a0001c0001t0031g0057	2	353	0.0057	41	c.21 others(52): Show c.2196_*2197insGTTGGGAGAACCGCGGGGTTGGTGTTGGGGTTGG GGTTGGG		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					1514		chr16	TogoVar
AXIN1_chr16_282440_357723	325079	G G	GCCCCAGG others(34): Show GCCCCAGGAAACCATGGCCTCAGCCCCGCGGGCGGCCCCGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp1 HG01934.hp1 others(1): Show HG01261.hp2 HG01361.hp1 HG01934.hp1 NA18959.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0025 a0001c0014t0020 a0001c0004t0025 a0001c0014t0020	a0001c0004t0025g0335 a0001c0004t0025g0348 a0001c0014t0020g0071 others(1): Show a0001c0004t0025g0335 a0001c0004t0025g0348 a0001c0014t0020g0071 a0001c0014t0020g0072	4	373	0.0107	41	c.879 others(60): Show c.879-10437_879-10397dupTGCGGGGCCGCCCGCGGGGCTGAGGC CATGGTTTCCTGGGG		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AZU1_chr19_822837_837018	835408	G G	GCCACCCC others(34): Show GCCACCCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	387	0.0026	41	c.35 others(52): Show c.3531_*3532insCCACCCCCGCAGCCCTGTCCAGGCCCCGACGCGT GCAGCCC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3391		chr19	TogoVar
B3GAT1_chr11_134373508_134417242	134408287	G G	GGAGGGAG others(34): Show GGAGGGAGGTGGGACAGCCTGCACCTATTCTAGTGGGGTGAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 NA18964.hp1 others(1): Show HG01168.hp2 HG01169.hp1 NA18964.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 a0001c0001t0054	a0001c0001t0001g0165 a0001c0001t0005g0254 a0001c0001t0031g0044 others(1): Show a0001c0001t0001g0165 a0001c0001t0005g0254 a0001c0001t0031g0044 a0001c0001t0054g0260	4	350	0.0114	41	c.-28 others(60): Show c.-282+3519_-282+3520insTTCACCCCACTAGAATAGGTGCAGGC TGTCCCACCTCCCTC		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5						chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408394	G G	GATTCCAG others(34): Show GATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0073 a0001c0001t0044g0073	1	338	0.0030	41	c.-28 others(60): Show c.-282+3412_-282+3413insAGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAAT		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5						chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408558	T T	TATTCCAG others(34): Show TATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02572.hp1 others(3): Show HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02717.hp2 HG03540.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0003t0004 a0002c0002t0002 a0001c0001t0004 a0001c0003t0004 a0002c0002t0002	a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0003t0004g0224 others(3): Show a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0003t0004g0224 a0001c0003t0004g0225 a0001c0003t0004g0226 a0002c0002t0002g0305	6	308	0.0195	41	c.-28 others(60): Show c.-282+3248_-282+3249insCGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAAT		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5						chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408601	T T	TTCCAGTG others(34): Show TTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp1 HG02280.hp2 others(2): Show HG01081.hp2 HG01891.hp1 HG02280.hp2 HG02970.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0296 a0001c0001t0002g0297 others(1): Show a0001c0001t0002g0031 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0304	5	350	0.0143	41	c.-28 others(60): Show c.-282+3205_-282+3206insGTCGGTGCAGGCTGTCCCACCTCCCT CCTCACCCCACTGGA		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5						chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408717	G G	GCACCGAT others(34): Show GCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG03834.hp2 others(3): Show HG01256.hp1 HG01258.hp2 HG03834.hp2 NA18939.hp1 NA19000.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022	a0001c0001t0001g0077 a0001c0001t0004g0029 a0001c0001t0004g0229 others(3): Show a0001c0001t0001g0077 a0001c0001t0004g0029 a0001c0001t0004g0229 a0001c0001t0014g0069 a0001c0001t0017g0039 a0001c0001t0022g0232	6	342	0.0175	41	c.-28 others(60): Show c.-282+3089_-282+3090insGAGGCTGTCCCACCTCCCTCCTCACC CCACTGGAATCGGTG		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5						chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408763	T T	TATTCCAG others(34): Show TATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0073 a0001c0001t0044g0073	1	311	0.0032	41	c.-28 others(60): Show c.-282+3003_-282+3043dupCGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAAT		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5						chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408845	T T	TATTCCAG others(34): Show TATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0042 a0001c0001t0018g0042	1	331	0.0030	41	c.-28 others(60): Show c.-282+2921_-282+2961dupCGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAAT		B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5						chr11	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp2 NA18975.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0016 a0001c0001t0001 a0002c0002t0016	a0001c0001t0001g0105 a0002c0002t0016g0143 a0001c0001t0001g0105 a0002c0002t0016g0143	2	40	0.0500	41	c.-38 others(52): Show c.-3878_-3877insTATATATATATATATATATATATATATATTTTTT TTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	39	0.0256	41	c.-38 others(52): Show c.-3878_-3877insTATATATATATATATATATATATATATTTTTTTT TTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(34): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG03041.hp2 others(1): Show HG02630.hp1 HG02647.hp2 HG03041.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0250 a0002c0002t0003g0245 a0002c0002t0003g0246 others(1): Show a0002c0002t0001g0250 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0253	4	42	0.0952	41	c.-38 others(52): Show c.-3878_-3877insTATATATATATATATATATATTTTTTTTTTTTTT TTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	231	0.0043	41	c.106 others(60): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATATATATAT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14						chr13	TogoVar
B3GNT6_chr11_77029398_77046973	77038042	A A	AGGAGGGG others(34): Show AGGAGGGGGAGGAGGAGGGGGGAGGAGTGGGAGGGGAATGAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	4	0.2500	41	c.1-1 others(54): Show c.1-1510_1-1509insGGAGGGGGAGGAGGAGGGGGGAGGAGTGGGAG GGGAATGAG		B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding	1/1						chr11	TogoVar
B3GNT6_chr11_77029398_77046973	77038042	A A	AGGAGGGG others(34): Show AGGAGGGGGGAGGAGGAGGGGGAGGAGTGGGAGGGGAATGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18998.hp2 HG01175.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0042 a0001c0001t0011g0036 a0001c0001t0001g0042 a0001c0001t0011g0036	2	5	0.4000	41	c.1-1 others(54): Show c.1-1510_1-1509insGGAGGGGGGAGGAGGAGGGGGAGGAGTGGGAG GGGAATGAG		B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding	1/1						chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82965140	A A	ACCTGCAG others(34): Show ACCTGCAGGTGCACTCCCACGGGGGGGATGGGGACACAGACG	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19043.hp2 HG03130.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0030 a0001c0001 a0003c0030	a0001c0001t0011 a0003c0030t0011 a0001c0001t0011 a0003c0030t0011	a0001c0001t0011g0068 a0003c0030t0011g0141 a0001c0001t0011g0068 a0003c0030t0011g0141	2	265	0.0075	41	c.555 others(56): Show c.555+470_555+510dupCGTCTGTGTCCCCATCCCCCCCGTGGGAGT GCACCTGCAGG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	7/12						chr17	TogoVar
B4GALNT3_chr12_454939_568509	480433	G G	GGTTCTTG others(34): Show GGTTCTTGAGGTCCCTCTGACATTACGGAAGGCTTGACGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(104): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01517.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG03130.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18959.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0015 a0016 a0017 a0020 a0022	a0001c0001 a0001c0002 a0001c0010 others(20): Show a0001c0001 a0001c0002 a0001c0010 a0001c0030 a0002c0003 a0002c0036 a0003c0049 a0004c0005 a0005c0006 a0005c0017 a0006c0007 a0007c0008 a0008c0012 a0008c0014 a0009c0009 a0009c0018 a0010c0011 a0012c0022 a0015c0043 a0016c0035 a0017c0050 a0020c0024 a0022c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0001t0053 a0001c0001t0062 a0001c0001t0069 a0001c0001t0070 a0001c0001t0077 a0001c0001t0084 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 a0001c0002t0026 a0001c0002t0095 a0001c0010t0002 a0001c0030t0006 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0013 a0002c0003t0024 a0002c0003t0032 a0002c0036t0006 a0003c0049t0002 a0004c0005t0003 a0004c0005t0004 a0004c0005t0009 a0005c0006t0001 a0005c0006t0003 a0005c0017t0001 a0006c0007t0049 a0006c0007t0079 a0007c0008t0037 a0008c0012t0010 a0008c0014t0010 a0008c0014t0030 a0009c0009t0004 a0009c0018t0002 a0009c0018t0005 a0010c0011t0005 a0010c0011t0018 a0012c0022t0010 a0015c0043t0004 a0016c0035t0010 a0017c0050t0026 a0020c0024t0002 a0022c0037t0002	a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0069 others(104): Show a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0164 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0351 a0001c0001t0001g0376 a0001c0001t0002g0054 a0001c0001t0002g0082 a0001c0001t0002g0099 a0001c0001t0002g0352 a0001c0001t0003g0010 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0101 a0001c0001t0003g0154 a0001c0001t0003g0344 a0001c0001t0003g0350 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0005g0007 a0001c0001t0005g0125 a0001c0001t0005g0326 a0001c0001t0005g0380 a0001c0001t0005g0384 a0001c0001t0007g0083 a0001c0001t0008g0002 a0001c0001t0008g0381 a0001c0001t0009g0355 a0001c0001t0009g0386 a0001c0001t0011g0107 a0001c0001t0011g0263 a0001c0001t0012g0113 a0001c0001t0012g0353 a0001c0001t0014g0104 a0001c0001t0021g0325 a0001c0001t0021g0349 a0001c0001t0023g0102 a0001c0001t0023g0168 a0001c0001t0025g0338 a0001c0001t0035g0378 a0001c0001t0036g0213 a0001c0001t0053g0077 a0001c0001t0062g0382 a0001c0001t0069g0339 a0001c0001t0070g0343 a0001c0001t0077g0337 a0001c0001t0084g0162 a0001c0002t0001g0222 a0001c0002t0002g0331 a0001c0002t0002g0379 a0001c0002t0006g0385 a0001c0002t0014g0088 a0001c0002t0026g0111 a0001c0002t0095g0357 a0001c0010t0002g0098 a0001c0030t0006g0332 a0002c0003t0002g0103 a0002c0003t0002g0131 a0002c0003t0004g0348 a0002c0003t0005g0341 a0002c0003t0006g0345 a0002c0003t0008g0078 a0002c0003t0013g0068 a0002c0003t0024g0333 a0002c0003t0032g0347 a0002c0036t0006g0346 a0003c0049t0002g0091 a0004c0005t0003g0094 a0004c0005t0003g0163 a0004c0005t0004g0354 a0004c0005t0009g0087 a0005c0006t0001g0161 a0005c0006t0003g0160 a0005c0017t0001g0267 a0006c0007t0049g0226 a0006c0007t0079g0231 a0007c0008t0037g0114 a0008c0012t0010g0389 a0008c0014t0010g0340 a0008c0014t0030g0067 a0008c0014t0030g0095 a0009c0009t0004g0097 a0009c0018t0002g0132 a0009c0018t0005g0170 a0010c0011t0005g0169 a0010c0011t0018g0009 a0010c0011t0018g0165 a0010c0011t0018g0334 a0012c0022t0010g0086 a0015c0043t0004g0119 a0016c0035t0010g0342 a0017c0050t0026g0274 a0020c0024t0002g0090 a0022c0037t0002g0227	107	327	0.3272	41	c.169 others(60): Show c.169+19888_169+19889insGTTCTTGAGGTCCCTCTGACATTACG GAAGGCTTGACGGCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19						chr12	TogoVar
B4GALNT3_chr12_454939_568509	511812	T T	TCTTCCAC others(34): Show TCTTCCACCTTCCACCTTCCACCTTCTTCTACCTTCTTCCAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	199	0.0050	41	c.170 others(60): Show c.170-23326_170-23325insTACCTTCTTCCACCTTCCACCTTCCA CCTTCCACCTTCTTC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512276	C C	CCTTCCAC others(34): Show CCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0037 a0006c0007t0037	a0006c0007t0037g0211 a0006c0007t0037g0211	1	351	0.0028	41	c.170 others(60): Show c.170-22855_170-22854insCACCTTCTTCCACCTTCCACCTTCTT CCACCTTCCACCTTC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	370653	A A	AGGCGCAG others(34): Show AGGCGCAGATGAAAGCCTGGCGGTGGGGTTGGGGGAGAAGGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0018 a0001c0003t0003g0018	1	182	0.0055	41	c.151 others(56): Show c.151+702_151+742dupCGCAGATGAAAGCCTGGCGGTGGGGTTGGG GGAGAAGGTGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374688	G G	GAGGGAGG others(34): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01433.hp1 HG03225.hp2 HG00408.hp2 HG01433.hp1 HG03225.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0039 a0008c0013 a0001c0001 a0003c0039 a0008c0013	a0001c0001t0001 a0003c0039t0001 a0008c0013t0001 a0001c0001t0001 a0003c0039t0001 a0008c0013t0001	a0001c0001t0001g0044 a0003c0039t0001g0058 a0008c0013t0001g0057 a0001c0001t0001g0044 a0003c0039t0001g0058 a0008c0013t0001g0057	3	157	0.0191	41	c.784 others(56): Show c.784-766_784-765insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374861	G G	GAGGGAGG others(34): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19064.hp1 NA18747.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0135 a0001c0001t0001g0036 a0001c0001t0001g0135	2	119	0.0168	41	c.784 others(56): Show c.784-593_784-592insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(34): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG03195.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0001 a0001c0001t0001 a0002c0009t0001	a0001c0001t0001g0167 a0002c0009t0001g0166 a0002c0009t0001g0168 a0001c0001t0001g0167 a0002c0009t0001g0166 a0002c0009t0001g0168	3	111	0.0270	41	c.784 others(56): Show c.784-574_784-573insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(34): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0046 a0013c0020t0001g0046	1	144	0.0069	41	c.784 others(56): Show c.784-521_784-520insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGG		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(34): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18970.hp1 NA19057.hp2 others(1): Show HG03688.hp1 NA18970.hp1 NA19057.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0008 a0001c0003 a0002c0002 a0002c0008	a0001c0003t0001 a0002c0002t0001 a0002c0008t0001 a0001c0003t0001 a0002c0002t0001 a0002c0008t0001	a0001c0003t0001g0106 a0002c0002t0001g0159 a0002c0002t0001g0163 others(1): Show a0001c0003t0001g0106 a0002c0002t0001g0159 a0002c0002t0001g0163 a0002c0008t0001g0148	4	126	0.0317	41	c.784 others(56): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGG		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(34): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18952.hp1 HG03453.hp1 NA18952.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0001 a0003c0006t0001 a0002c0002t0001 a0003c0006t0001	a0002c0002t0001g0062 a0003c0006t0001g0078 a0002c0002t0001g0062 a0003c0006t0001g0078	2	84	0.0238	41	c.784 others(56): Show c.784-434_784-433insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(34): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0164 a0001c0001t0044g0164	1	53	0.0189	41	c.-16 others(62): Show c.-161-13921_-161-13920insAAAAAAAAAAAAAAAAAAAAAAAA AAATATATATATATATA		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8						chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81425993	T T	TGGTGATA others(34): Show TGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0183 a0003c0002t0001g0183	1	330	0.0030	41	c.179 others(56): Show c.179-806_179-805insGTGATAGTCGTGGGTGATGTGGTTGGGGGT GATAGTGGTGG		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	158	0.0063	41	c.128 others(58): Show c.128-1893_128-1892insATATATATATATATATATATATATATAT ATTTTTTTTTTTT		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13						chr7	TogoVar
BBIP1_chr10_110893730_110924180	110922886	A A	ATTTATCA others(34): Show ATTTATCAGTAGAATTATACATTAAGTACTTTTATGTGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	41	c.-38 others(52): Show c.-3863_-3823dupGTATCACATAAAAGTACTTAATGTATAATTCTAC TGATAAA		BBIP1	ENSG00000214413.9	transcript	ENST00000448814.7	protein_coding					3707		chr10	TogoVar
BBX_chr3_107517962_107816339	107583866	G G	GATAAATT others(34): Show GATAAATTATACTTTATATATATTATATATAAAGTATAAAGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0047 a0001c0001t0026 a0001c0001t0047	a0001c0001t0026g0146 a0001c0001t0047g0085 a0001c0001t0026g0146 a0001c0001t0047g0085	2	220	0.0091	41	c.-84 others(60): Show c.-84+57490_-84+57530dupTTATATATAAAGTATAAAGTATAAAT TATACTTTATATATA		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAS3_chr17_60672851_61397831	60955386	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0074 a0002c0005t0002g0074	1	35	0.0286	41	c.122 others(60): Show c.1221+8053_1221+8054insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
BCL2L10_chr15_52104263_52117775	52117103	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATTTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	440	0.0023	41	c.-43 others(52): Show c.-4378_-4377insTATATAAATATATATATATATATATATATATATA TATATAT		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4329		chr15	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	172	0.0058	41	c.83+ others(56): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7						chr3	TogoVar
BEAN1_chr16_66422295_66487833	66474581	A A	AGAGGGAG others(34): Show AGAGGGAGGGAGAGAGGGAGGAGAGAGAGGGAGGGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	273	0.0037	41	c.290 others(58): Show c.290-2968_290-2967insAGAGGGAGGAGAGAGAGGGAGGGAGAGA GGGAGGGAGGGAG		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BID_chr22_17729138_17779469	17777816	T T	TAGGAAGT others(34): Show TAGGAAGTGACAGTGAGAAACTGCAGCATAAAGCGGAAGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0157 a0001c0003t0004g0157	1	360	0.0028	41	c.-34 others(52): Show c.-3495_-3494insTTGCTTCCGCTTTATGCTGCAGTTTCTCACTGTC ACTTCCT		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding					3348		chr22	TogoVar
BIRC6_chr2_32352023_32623878	32578981	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATACACTTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0127 a0003c0017t0001g0127	1	272	0.0037	41	c.133 others(62): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TACACTTAATATATATA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BMF_chr15_40082890_40113879	40113056	C C	CGTGTGGG others(34): Show CGTGTGGGGGGGTGTGTGCGTGCGTGTGTGCGTGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	25	0.0400	41	c.-44 others(52): Show c.-4418_-4417insCCCCCCCCCACGCACACACGCACGCACACACCCC CCCACAC		BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding					4178		chr15	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAACA others(34): Show ACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0275 a0001c0002t0002g0275	1	176	0.0057	41	c.377 others(58): Show c.377-7578_377-7577insCAGAACAGAACAGAACAGAACAGAACAG AACAGAACAGAAC		BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19						chr3	TogoVar
BOP1_chr8_144257045_144296438	144262838	G G	GCCCCCCC others(34): Show GCCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	364	0.0027	41	c.189 others(56): Show c.1894+14_1894+15insGGGGGGCGGTGTACCCTGCAGGTGAGGGGT GGGGGGGGGGG		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15						chr8	TogoVar
BPIFB1_chr20_33278214_33314871	33295662	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0255 a0008c0008t0001g0255	1	359	0.0028	41	c.598 others(58): Show c.598-1862_598-1861insAAGAAAGAAAGAAAGAAGAAAGAAAGAA AGAAAGAAAGAAA		BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr20	TogoVar

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