Joint Open Genome and Omics Platform (JoGo)

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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
ASMT_chrX_1610059_1648081	1610558	T T	TCCCCTGC others(89): Show TCCCCTGCCCCTACTCCAGCCAAGCCCCCAGGTCACTCCTACTCCAGCCA AACCTCCAGGCCTCCCCTGCCCCTACTCCAGCCAAACCTCCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	170	0.0059	96	c.-46 others(107): Show c.-4642_-4641insCCCCTGCCCCTACTCCAGCCAAGCCCCCAGGTCA CTCCTACTCCAGCCAAACCTCCAGGCCTCCCCTGCCCCTACTCCAGCCAA ACCTCCAGGCCA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4500		chrX	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(89): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	288	0.0035	96	c.42 others(107): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(89): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	288	0.0035	96	c.42 others(107): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ATP10A_chr15_25673712_25868327	25704090	C C	CCTTGGGC others(89): Show CCTTGGGCTCTAGTAGGGGGGCAGACTGTGTGTGGCCCGTGTCCCTGGCT CATCCTGAGTGTCACTTGTACTATGACAGGTTCCTTGATGTCTGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0003 a0007c0016t0003	a0007c0016t0003g0002 a0007c0016t0003g0002	1	298	0.0034	96	c.257 others(115): Show c.2576-2086_2576-1991dupCCCCAGACATCAAGGAACCTGTCATA GTACAAGTGACACTCAGGATGAGCCAGGGACACGGGCCACACACAGTCTG CCCCCCTACTAGAGCCCAAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	12/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TATATTAT others(89): Show TATATTATATATACATGTATATATAATATATTATATATACATGTATATAT AATATATTATATATACATGTATATATAATATATTATATATACATGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02886.hp2 HG01243.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0207 a0001c0001t0009g0031 a0001c0001t0009g0207	2	89	0.0225	96	c.676 others(113): Show c.676-3634_676-3633insTACATGTATATATAATATATTATATATA CATGTATATATAATATATTATATATACATGTATATATAATATATTATATA TACATGTATATATAATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112787677	C C	CACACCGG others(89): Show CACACCGGGTGTCCTGATGCGTAGACTCCTGGGGATACCTACTTAATTCA CACCGGGTGTCCTGATGTGTAGACCCCTGTGGAGACCTACTTAATTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp2 HG03453.hp1 others(2): Show HG02055.hp2 HG03041.hp2 HG03453.hp1 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0002t0014 a0001c0002t0041 others(1): Show a0001c0001t0001 a0001c0002t0014 a0001c0002t0041 a0001c0016t0004	a0001c0001t0001g0146 a0001c0002t0014g0213 a0001c0002t0041g0212 others(2): Show a0001c0001t0001g0146 a0001c0002t0014g0213 a0001c0002t0041g0212 a0001c0016t0004g0214 a0001c0016t0004g0215	5	237	0.0211	96	c.162 others(113): Show c.162+2450_162+2451insGGGATACCTACTTAATTCACACCGGGTG TCCTGATGTGTAGACCCCTGTGGAGACCTACTTAATTGACACCGGGTGTC CTGATGCGTAGACTCCTG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112787677	C C	CACACCGG others(89): Show CACACCGGGTGTCCTGATGCGTAGACTCCTGTGGATACCTACTTAATTCA CACCGGGTGTCCTGATGTGTAGACCCCTGTGGAGACCTACTTAATTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00733.hp1 others(12): Show HG00597.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01243.hp2 HG01255.hp2 HG01496.hp2 HG02738.hp1 HG04184.hp1 HG04184.hp2 NA19077.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0005 a0001c0006 others(4): Show a0001c0001 a0001c0005 a0001c0006 a0002c0003 a0002c0010 a0003c0012 a0010c0037	a0001c0001t0001 a0001c0001t0062 a0001c0005t0020 others(5): Show a0001c0001t0001 a0001c0001t0062 a0001c0005t0020 a0001c0006t0001 a0002c0003t0002 a0002c0010t0022 a0003c0012t0005 a0010c0037t0001	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0109 others(12): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0193 a0001c0001t0062g0138 a0001c0005t0020g0144 a0001c0006t0001g0070 a0001c0006t0001g0077 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0183 a0002c0010t0022g0072 a0003c0012t0005g0207 a0010c0037t0001g0076	15	247	0.0607	96	c.162 others(113): Show c.162+2454_162+2455insTACCTACTTAATTCACACCGGGTGTCCT GATGTGTAGACCCCTGTGGAGACCTACTTAATTGACACCGGGTGTCCTGA TGCGTAGACTCCTGTGGA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112788035	A A	AGTGTCCT others(89): Show AGTGTCCTGATGTGTAGACCCCTGTGGATACCTACTTAATTCACACCGGG TGTCCTGATGCGTAGACTCCTGTGGAGACCTACTTAATCCACACCGG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0170 a0003c0008t0001g0170	1	117	0.0085	96	c.162 others(113): Show c.162+2837_162+2838insCGTAGACTCCTGTGGAGACCTACTTAAT CCACACCGGGTGTCCTGATGTGTAGACCCCTGTGGATACCTACTTAATTC ACACCGGGTGTCCTGATG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840203	G G	GTCCAGCC others(89): Show GTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCC CACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp1 HG03516.hp2 others(1): Show HG02965.hp2 HG03041.hp1 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0020 a0001c0021 a0001c0020 a0001c0021	a0001c0020t0008 a0001c0020t0070 a0001c0021t0024 a0001c0020t0008 a0001c0020t0070 a0001c0021t0024	a0001c0020t0008g0063 a0001c0020t0070g0055 a0001c0021t0024g0047 others(1): Show a0001c0020t0008g0063 a0001c0020t0070g0055 a0001c0021t0024g0047 a0001c0021t0024g0048	4	218	0.0183	96	c.170 others(115): Show c.1706-2035_1706-1940dupCCTCAGCCTCCCCACTCTCCCGTGCC CTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCC CACTCTCCCGTGCCCTCCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840273	C C	CCTCAGCC others(89): Show CCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGACTCAGCCTCCCCACTCT CCCATGCCTTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 NA18906.hp2 HG02965.hp1 HG03195.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0009 a0004c0027 a0001c0009 a0004c0027	a0001c0009t0003 a0001c0009t0050 a0004c0027t0074 a0001c0009t0003 a0001c0009t0050 a0004c0027t0074	a0001c0009t0003g0218 a0001c0009t0050g0045 a0004c0027t0074g0155 a0001c0009t0003g0218 a0001c0009t0050g0045 a0004c0027t0074g0155	3	230	0.0130	96	c.170 others(115): Show c.1706-1972_1706-1971insACTCAGCCTCCCCACTCTCCCATGCC TTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGACTCAGCCTCCC CACTCTCCCGTGCCCTCCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840305	C C	CCTCAGCC others(89): Show CCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCT CCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0011 a0003c0008t0011	a0003c0008t0011g0020 a0003c0008t0011g0020	1	242	0.0041	96	c.170 others(115): Show c.1706-1940_1706-1939insCCTCAGCCTCCCCACTCTCCCGTGCC CTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGACTCAGCCTCCC CACTCTCCCGTGCCCTCCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A5_chr3_193269789_193383753	193362775	T T	TTCTTTCT others(89): Show TTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCT CTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0232 a0005c0005t0002g0232	1	218	0.0046	96	c.385 others(111): Show c.385-139_385-138insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGA AAGAGAGAAAGAAAGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362813	C C	CTCTCTTT others(89): Show CTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCT CTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0002 a0011c0017t0002	a0011c0017t0002g0235 a0011c0017t0002g0235	1	63	0.0159	96	c.385 others(111): Show c.385-177_385-176insCAAAGAAAGAAAGAAAGAAAGAGAGAAAGA AAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAA GAGAGAAAGAAAGAGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707208	T T	TTATATAT others(89): Show TTATATATATTATATAATATATTATATATTATATATAATATAATATATAT TATATATAATATAATATATTATATATAATATATTATATTATATATTA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0009 a0005c0006t0001g0009	1	349	0.0029	96	c.243 others(113): Show c.2430-492_2430-491insTAATATATAATATAATATATTATATATA ATATATTATATTATATATAATATATATTATATTATATATAATATATAATA TATTATATAATATATATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP8B3_chr19_1777075_1817276	1802146	T T	TACCCATC others(89): Show TACCCATCCACCCCTCACCCACCCATCACTCACCCATCCACCCACTCCCC CACTCATCCACCCACCTACCCATCCACCCCTCACCCACCCATCACTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01074.hp2 HG01099.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0291 a0003c0002t0004g0292 a0003c0002t0004g0291 a0003c0002t0004g0292	2	388	0.0052	96	c.106 others(113): Show c.1064-103_1064-102insGAGTGATGGGTGGGTGAGGGGTGGATGG GTAGGTGGGTGGATGAGTGGGGGAGTGGGTGGATGGGTGAGTGATGGGTG GGTGAGGGGTGGATGGGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	11/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50085877	T T	TTATATAT others(89): Show TTATATATGATATATATCATATATATTTATATATGATATATATCATATAT ATTTATATATGATATATATCATATATATTTATATATGATATATATCA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0132 a0002c0002t0008g0132	1	191	0.0052	96	c.29- others(113): Show c.29-11693_29-11692insTGATATATATCATATATAAATATATATG ATATATATCATATATAAATATATATGATATATATCATATATAAATATATA TGATATATATCATATATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	82970616	C C	CCACCCGG others(89): Show CCACCCGGCGTGGCCGCGACCTCCCCACCCGGCGTGGCCGCGACCTCCGC ACCCGGCGTGGCCGCGACCTCCCCACCCGGTGTGGCCGCGACCTCCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0195 a0001c0003t0015g0195	1	205	0.0049	96	c.460 others(113): Show c.460-4871_460-4870insCGGAGGTCGCGGCCACACCGGGTGGGGA GGTCGCGGCCACGCCGGGTGCGGAGGTCGCGGCCACGCCGGGTGGGGAGG TCGCGGCCACGCCGGGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970624	C C	CGTGGCCG others(89): Show CGTGGCCGCGACCTCCGCACCCGGCGTGGCCGTGACCTCCGCACATGGTG TGGCCGTGACCTCTGCACATGGCGTGGCCGTGACCTCCCCACCCAGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0149 a0001c0001t0012g0149	1	243	0.0041	96	c.460 others(113): Show c.460-4879_460-4878insACTGGGTGGGGAGGTCACGGCCACGCCA TGTGCAGAGGTCACGGCCACACCATGTGCGGAGGTCACGGCCACGCCGGG TGCGGAGGTCGCGGCCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970646	G G	GGCGTGGC others(89): Show GGCGTGGCCGCGACCTCCCCACCCGGCGTGGCCGCGACCTCCGCACCCGG CGTGGCCGTGACCTCTGCACATGGCGTGGCCGTGACCTCCCCACCCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0023 a0001c0006t0001g0023	1	172	0.0058	96	c.460 others(113): Show c.460-4901_460-4900insTGGGTGGGGAGGTCACGGCCACGCCATG TGCAGAGGTCACGGCCACGCCGGGTGCGGAGGTCGCGGCCACGCCGGGTG GGGAGGTCGCGGCCACGC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970646	G G	GGCGTGGC others(89): Show GGCGTGGCCGCGACCTCCCCACCCGGCGTGGCCGCGACCTCCGCACCCGG CGTGGCCGTGACCTCTGCACATGGTGTGGCCGTGACCTCCCCACCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01515.hp1 others(1): Show HG01109.hp1 HG01168.hp2 HG01515.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0009 a0001c0001 a0002c0005 a0002c0009	a0001c0001t0006 a0002c0005t0007 a0002c0009t0003 a0001c0001t0006 a0002c0005t0007 a0002c0009t0003	a0001c0001t0006g0165 a0002c0005t0007g0238 a0002c0009t0003g0092 others(1): Show a0001c0001t0006g0165 a0002c0005t0007g0238 a0002c0009t0003g0092 a0002c0009t0003g0100	4	175	0.0229	96	c.460 others(113): Show c.460-4901_460-4900insTGGGTGGGGAGGTCACGGCCACACCATG TGCAGAGGTCACGGCCACGCCGGGTGCGGAGGTCGCGGCCACGCCGGGTG GGGAGGTCGCGGCCACGC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970655	G G	GTGACCTC others(89): Show GTGACCTCCGCACATGGTGTGGCCGTGACCTCCGCACATGGTGTGGCCGT GACCTCCGCACCCGGTGTGGCCGTGACCTCTGCACACAGCGTGGCCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0019 a0001c0006t0001g0019	1	230	0.0043	96	c.460 others(113): Show c.460-4910_460-4909insTGGCCACGCTGTGTGCAGAGGTCACGGC CACACCGGGTGCGGAGGTCACGGCCACACCATGTGCGGAGGTCACGGCCA CACCATGTGCGGAGGTCA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970656	C C	CGACCTCC others(89): Show CGACCTCCCCACCCGGCGTGGCCGCGACCTCCGCACCCGGCGTGGCCGCG ACCTCCGCACCCGGCGTGGCCGCGACCTCCGCACACGGCGTGGCCGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0223 a0001c0003t0015g0223	1	154	0.0065	96	c.460 others(113): Show c.460-4911_460-4910insACGGCCACGCCGTGTGCGGAGGTCGCGG CCACGCCGGGTGCGGAGGTCGCGGCCACGCCGGGTGCGGAGGTCGCGGCC ACGCCGGGTGGGGAGGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026625	A A	AGGAAAGG others(89): Show AGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATACACAGAGGAG GGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACACAGAGCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02886.hp1 others(3): Show HG02055.hp1 HG02559.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0011 a0001c0001t0012 a0001c0011t0001 others(2): Show a0001c0001t0011 a0001c0001t0012 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017	a0001c0001t0011g0068 a0001c0001t0012g0149 a0001c0011t0001g0145 others(3): Show a0001c0001t0011g0068 a0001c0001t0012g0149 a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0011t0017g0146	6	229	0.0262	96	c.297 others(113): Show c.297+8409_297+8410insCGCTCTGTGTGTCTGTCGAGGGTGGGTT TGTATGCAGGCTCCCTGCCCTCCTCTGTGTATCGGTCGATGGTGGGTTTG TCTGCAGGCTCCCTTTCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81053801	C C	CGCCCGGG others(89): Show CGCCCGGGCCCCGGGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGCG CCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	316	0.0032	96	c.130 others(109): Show c.130+70_130+71insGGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAA CTGCGCCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACT GTGCCCGGGCCCCG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81053801	C C	CGCCCGGG others(89): Show CGCCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGCG CCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01099.hp2 others(36): Show HG00642.hp1 HG00733.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18939.hp1 NA18945.hp2 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp2 NA18984.hp1 NA18994.hp2 NA19000.hp1 NA19066.hp1 NA19082.hp1 NA19087.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0036 a0001c0001t0042 a0002c0002t0002	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 others(36): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0324 a0001c0001t0001g0331 a0001c0001t0003g0214 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0325 a0001c0001t0004g0284 a0001c0001t0036g0289 a0001c0001t0042g0365 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0296 a0002c0002t0002g0297	39	354	0.1102	96	c.130 others(111): Show c.130+105_130+106insCGCCCGGGCCCCGTGGGGTGGGAGCTGCCT CCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGGGGTGGGAGCTGCCTCC TGAGCTGGTAGAACTG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81053909	G G	GTGGGGTG others(89): Show GTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGT GGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	372	0.0027	96	c.130 others(111): Show c.130+213_130+214insGTGGGGTGGGAGCTGCCTCCTGAGCTGGTA GAACTGTGCCCGGGCCCCATGGGGTGGGAGCTGCCTCCTGAGCTGGTAGA ACTGTGCCCGGGCCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(89): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01099.hp1 HG03209.hp2 others(1): Show HG00621.hp2 HG01099.hp1 HG03209.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0003t0004 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0004 a0001c0003t0029	a0001c0001t0002g0060 a0001c0001t0006g0300 a0001c0003t0004g0255 others(1): Show a0001c0001t0002g0060 a0001c0001t0006g0300 a0001c0003t0004g0255 a0001c0003t0029g0260	4	63	0.0635	96	c.131 others(112): Show c.131-1034_131-939dupGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BATF2_chr11_64982945_65001971	65000930	C C	CCCTTCCT others(89): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	397	0.0025	96	c.-40 others(107): Show c.-4017_-4016insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		3960		chr11	TogoVar
BCKDHB_chr6_80101671_80351270	80107520	T T	TATATATG others(89): Show TATATATGCATATATATATGTGCGCATATATATATATGCATATATATATG CATATATATATGCACACATATATATATGCATATATATATATGCGCAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp2 HG03209.hp1 HG02486.hp1 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0202 a0001c0001t0012g0203 a0001c0001t0012g0204 a0001c0001t0012g0202 a0001c0001t0012g0203 a0001c0001t0012g0204	3	273	0.0110	96	c.196 others(111): Show c.196+637_196+638insGCATATATATATGTGCGCATATATATATAT GCATATATATATGCATATATATATGCACACATATATATATGCATATATAT ATATGCGCACATATAT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCL11A_chr2_60452194_60558654	60467222	A A	ATGGTGGT others(89): Show ATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGT GGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	250	0.0040	96	c.487 others(113): Show c.487+1414_487+1509dupCCATCACCACCACCACCATTACCACCAC CATCACTACCACCACCACCACCATCACCACCACCACCATTACCACCACCA TCACTACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467906	A A	ATGGTGGT others(89): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGCTGGTGGTCAT GGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	181	0.0055	96	c.487 others(111): Show c.487+825_487+826insCCATTACCACCACCATCACTACCACCACCA CCATCACCACCAGTACCATGACCACCAGCACCATCACTACCACCACCACC ACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467912	G G	GTGGTGGT others(89): Show GTGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGATGGTACT GGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0207 a0001c0001t0057g0207	1	180	0.0056	96	c.487 others(111): Show c.487+819_487+820insTCACCACCATTACCACCACCATCACTACCA CCACCACCATCACCACCAGTACCATCACCACCACCACCATCACTACCACC ACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BEAN1_chr16_66422295_66487833	66474602	G G	GAGGAAGG others(89): Show GAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGA GAGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	263	0.0038	96	c.290 others(113): Show c.290-2956_290-2955insGAAGGGAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGGGAGGG AGGGAGGGAGGAAGGAAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(89): Show ATATATTTATTATAAATATTATATATTATATATTATATTTATAATAAATA TTATATATTATATATTATATTTATAATAAATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	156	0.0064	96	c.426 others(115): Show c.426+35667_426+35668insTATAAATATTATATATTATATATTAT ATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATTAT ATATTATATATTATATTTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRSK2_chr11_1384934_1467689	1423667	A A	AGCCTCCC others(89): Show AGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	225	0.0044	96	c.92- others(113): Show c.92-12295_92-12200dupGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423667	A A	AGCCTCCC others(89): Show AGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGTGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0041 a0001c0001t0045g0041	1	225	0.0044	96	c.92- others(113): Show c.92-12328_92-12327insTGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1426241	C C	CGGGGATG others(89): Show CGGGGATGTGTGTGGGGCGTGCTCTGGGGATGTGTGTGGGGCGTGCTCTG GGGATGTGTGTGGGGCGTGCTCTGGGGATGTGTGTGGGGCGTGCTCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	2	355	0.0056	96	c.92- others(111): Show c.92-9776_92-9775insTGGGGATGTGTGTGGGGCGTGCTCTGGGGA TGTGTGTGGGGCGTGCTCTGGGGATGTGTGTGGGGCGTGCTCTGGGGATG TGTGTGGGGCGTGCTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431297	C C	CGGTCTGG others(89): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0074 a0002c0002t0008g0074	1	353	0.0028	96	c.92- others(111): Show c.92-4742_92-4647dupGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431890	T T	TCAGCAGT others(89): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	297	0.0034	96	c.92- others(111): Show c.92-4128_92-4127insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432221	T T	TCAGCAGT others(89): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0197 a0002c0002t0005g0197	1	267	0.0037	96	c.92- others(111): Show c.92-3797_92-3796insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSG_chr19_567596_588493	570682	G G	GGAGGGGG others(89): Show GGAGGGGGCGGAGGGGTGGGTGGGGGAGGGGTGGAGGGGTGGGTGGAAGG GGCGGGGGTGGGTGGGGAGGGGCGGAGGGGTGGGTGGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	128	0.0078	96	c.-19 others(107): Show c.-1953_-1952insGAGGGGGCGGAGGGGTGGGTGGGGGAGGGGTGGA GGGGTGGGTGGAAGGGGCGGGGGTGGGTGGGGAGGGGCGGAGGGGTGGGT GGGGGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1913		chr19	TogoVar
BSG_chr19_567596_588493	585300	T T	TGGGGTGC others(89): Show TGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGGGTGCCCGGCGCGGAG GGGTGCGGAGGTGGATGTCCACCCCGTCGGTGGGTGCCCGGCGCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01943.hp1 others(5): Show HG01167.hp1 HG01169.hp2 HG01943.hp1 HG03239.hp1 HG03654.hp1 HG04204.hp2 NA19082.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0007 a0001c0002t0001 a0001c0002t0018 others(2): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0018 a0004c0009t0003 a0004c0009t0022	a0001c0001t0007g0009 a0001c0001t0007g0107 a0001c0001t0007g0114 others(4): Show a0001c0001t0007g0009 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0002t0001g0103 a0001c0002t0018g0001 a0004c0009t0003g0094 a0004c0009t0022g0093	8	151	0.0530	96	c.25 others(107): Show c.2556_*2557insGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGG GTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCACCCCGTCGGTGGGT GCCCGGCGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1808		chr19	TogoVar
BSG_chr19_567596_588493	585300	T T	TGGGGTGC others(89): Show TGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAG GGGTGCGGAGGTAGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03209.hp1 NA19043.hp1 HG02723.hp2 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0144 a0001c0001t0003g0158 a0001c0001t0003g0051 a0001c0001t0003g0144 a0001c0001t0003g0158	3	146	0.0205	96	c.25 others(107): Show c.2556_*2557insGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGG GTGCCCGGCGCGGAGGGGTGCGGAGGTAGATGTCCGCCCCGTCGGTGGGT GCCCGGCGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1808		chr19	TogoVar
BSG_chr19_567596_588493	585322	A A	ACCCCGTC others(89): Show ACCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTAGATGTCCGC CCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	275	0.0036	96	c.25 others(107): Show c.2578_*2579insCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCG GAGGTAGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGA GGTGGATGTCCG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1830		chr19	TogoVar
BSG_chr19_567596_588493	585322	A A	ACCCCGTC others(89): Show ACCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCAC CCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	275	0.0036	96	c.25 others(107): Show c.2578_*2579insCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCG GAGGTGGATGTCCACCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGA GGTGGATGTCCG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1830		chr19	TogoVar
BSG_chr19_567596_588493	585441	C C	CGGAGGGG others(89): Show CGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCG GAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	289	0.0035	96	c.26 others(107): Show c.2697_*2698insGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGG TGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTG GGTGCCCGGCGT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1949		chr19	TogoVar
BTBD9_chr6_38163451_38644929	38374296	T T	TACATATA others(89): Show TACATATATATATATATATATATATACATATATATATATATATATATATA CATATATATATATATATATATATACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0015	1	220	0.0045	96	c.115 others(117): Show c.1155-29204_1155-29203insGTATATATATATATATATATATGT ATATATATATATATATATATATGTATATATATATATATATATATATGTAT ATATATATATATATATATATGT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374305	A A	ATATATAT others(89): Show ATATATATATATACACGTATATATATATATATATATATATATACGTATAT ATATATATATATATATATATACGTATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0066 a0001c0001t0060g0066	1	196	0.0051	96	c.115 others(117): Show c.1155-29213_1155-29212insCATATATATATATATATATATATA CGTATATATATATATATATATATATATACGTATATATATATATATATATA TATATACGTGTATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374305	A A	ATATGTAT others(89): Show ATATGTATATATATATATACATGTGTATATATATATATATATATATATAT GTATATATATATATATATATATATATATGTATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0173 a0001c0001t0139g0173	1	196	0.0051	96	c.115 others(117): Show c.1155-29213_1155-29212insCACATATATATATATATACATATA TATATATATATATATATATATACATATATATATATATATATATATATACA CATGTATATATATATATACATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
C12orf56_chr12_64259762_64395758	64366663	A A	ATACATTA others(89): Show ATACATTATATATAACACAGTTTATACATTATATATAACATACACTTTAT ACATTATATATAACATACACTTTATACATTATATATAACATACACTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG03453.hp1 others(2): Show HG02257.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0005 a0001c0001 a0001c0007 a0002c0005	a0001c0001t0004 a0001c0007t0004 a0002c0005t0005 a0001c0001t0004 a0001c0007t0004 a0002c0005t0005	a0001c0001t0004g0169 a0001c0007t0004g0174 a0001c0007t0004g0176 others(2): Show a0001c0001t0004g0169 a0001c0007t0004g0174 a0001c0007t0004g0176 a0001c0007t0004g0182 a0002c0005t0005g0144	5	305	0.0164	96	c.253 others(115): Show c.253-13608_253-13607insAAGTGTATGTTATATATAATGTATAA AGTGTATGTTATATATAATGTATAAAGTGTATGTTATATATAATGTATAA ACTGTGTTATATATAATGTA	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar

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