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
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(482): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATATTTATATATTAT ATTTATGTAATATATATTTATATATTATATTTATGTAATATATATTTATA TATTATATTTATGTAATATATATTTATATATTATATTTATGTAATATATA TTTATATATTATATTTATGTAATATATATTTATATATTATATTTATGTAA TATATAATATATATTTATATATTATATTTATGTAATATATAATATATATT TATATATTATATTTATGTAATATATAATATATATTTATATATTATATTTA TGTAATATATAATATATATTTATATATTATATTTATGTAATATATAATAT ATATTTATATATTATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04228.hp1 HG03688.hp2 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0148 a0001c0004t0001g0009 a0001c0004t0001g0148	2	60	0.0333	489	c.213 others(508): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATATAA ATATATATTATATATTACATAAATATAATATATAAATATATATTACATAA ATATAATATATAAATATATATTACATAAATATAATATATAAATATATATT ACATAAATATAATATATAAATATATATTACATAAATATAATATATAAATA TATATTACATAAATATAATATATAAATATATATTACATAAATATAATATA TAAATATATATTATATATTACATAAATATAATATATAAATATATATTATA TATTACATAAATATAATATATAAATATATATTATATATTACATAAATATA ATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VCX_chrX_7838171_7849143	7844472	G G	GGGAGGAA others(482): Show GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	295	0.0034	489	c.45 others(498): Show c.456_*457insGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAC	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		330		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11605172	G G	GCCCACCC others(482): Show GCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCC CCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCT TCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTG TGAATTCCATCTTCCAAAGCGCCCCACGCCCCCGCCCACCCCCAATCCTC CACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCA CCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCAC GCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCA AAGCGCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATT CCATCTTCCAAAGCGCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGC TCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0048 a0002c0003t0001g0048	1	246	0.0041	489	c.83- others(504): Show c.83-3151_83-3150insGGGTGGGCGTGGGGGCGCTTTGGAAGATGG AATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGCGCTT TGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCG TGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTG GGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGA GGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCA CAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGCGCTTTGGAAG ATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGG GCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCG GGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATT GGGGGTGGG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VSIG4_chrX_66016738_66045080	66037125	T T	TATATAAT others(482): Show TATATAATATATATAATATATATAATATAATATAATGCAATATATAATAA TTATATAATATAATATATAATATATAATATATATTATATATAATAATATA ATATATAATATACATTATATAATAATATAATGTATATTATATAATAATAA TGTAATATATAACATATATTATATAATAATAATATAAGATATATTATATA ATTAATATAATATATAATATATATTATATAATAATAATATAAGATATATT ATATAATTAATATAATATATAATATATATTATATAATTAATATAATATAT AATATATATTATATAATAATAATATAATATATATAATAATTATATAATAT AGTATATAATATATATTATATAATAATAATATAATATATATAATAATTAT ATAATATTAGAATATATATTATACAATAATAATATAATATATATTATACA ATAATAATATAATATATATATAATTATATAATATAATATA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	209	0.0048	489	c.55+ others(504): Show c.55+2818_55+2819insTATATTATATTATATAATTATATATATATT ATATTATTATTGTATAATATATATTATATTATTATTGTATAATATATATT CTAATATTATATAATTATTATATATATTATATTATTATTATATAATATAT ATTATATACTATATTATATAATTATTATATATATTATATTATTATTATAT AATATATATTATATATTATATTAATTATATAATATATATTATATATTATA TTAATTATATAATATATCTTATATTATTATTATATAATATATATTATATA TTATATTAATTATATAATATATCTTATATTATTATTATATAATATATGTT ATATATTACATTATTATTATATAATATACATTATATTATTATATAATGTA TATTATATATTATATTATTATATATAATATATATTATATATTATATATTA TATTATATAATTATTATATATTGCATTATATTATATTATATATATTATAT ATATTATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(482): Show TCCTCTCCCCTCCCCCTCCCCATCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCC CTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTC CCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTC TCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCT CTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	33	0.0303	489	c.53- others(502): Show c.53-442_53-441insCCCCTCCCCATCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCC TCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCC CCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTC CCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCT CCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTC TCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(482): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCT CCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCT CCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCT CCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	33	0.0303	489	c.53- others(502): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCC CCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCC CCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTC TCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTC CCCCTCTCCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTC TCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401775	T T	TCCACCAA others(482): Show TCCACCAACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCC CGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCAC CACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACC AACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCT CCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACC ACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCAC CCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0031 a0001c0016t0031	a0001c0016t0031g0073 a0001c0016t0031g0073	1	324	0.0031	489	c.181 others(510): Show c.1811-21473_1811-21472insTGGAGGGGTGCGGCGCGGGGGTGT GGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGG TGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTG GTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTG GTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGC GGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGG TGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGT GGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGG GGGTGTGGTTGGTGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF532_chr18_58859877_58991480	58941998	T T	CCCTTCCT others(482): Show CCCTTCCTTCTTTCTTTTCTTTTCTTTTTTTCTACCCCCGCCCCCCCCCT CAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTC ACTGCAAGCTCCACCTCCCGAGTTCAAGCCATTCTCCTGCCTCAGCCTCC TGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAA CTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCTGGCCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTTTCTCTTTTCTTCTTTCCTTTCCTCCCTC CCTCTCTCCCTCCCTCCCTCCTTCCCTCCTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	352	0.0028	489	c.270 others(508): Show c.2705+2376_2705+2377insCCCTTCCTTCTTTCTTTTCTTTTCTT TTTTTCTACCCCCGCCCCCCCCCTCAGTCTCGCTGTGTCGCCCAGGCTGG AGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCACCTCCCGAGTTCA AGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCA CCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCAC CGTGTTAGCCAGGATGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTTTCTC TTTTCTTCTTTCCTTTCCTCCCTCCCTCTCTCCCTCCCTCCCTCCTTCCC TCCTTCCCTTCCT	ZNF532	ENSG00000074657.14	transcript	ENST00000591808.6	protein_coding	5/9			chr18	TogoVar
ZSCAN32_chr16_3377085_3406004	3393207	T T	TATATATA others(482): Show TATATATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATATATTTATATATATAAATATATATATTTA TATATATATTTATATATATATAAATATATATATATAAATATATATATATA AATATAAATAAATATATATTTATATATATAAATAAATATATATTTATATA TATATTTATATATATATAAATATATATATATATTTATATATATAAATATA TATATATTTATATATATATAAATATATATATATTTTATATATATATATAA ATATATATATATATTTTATATATATATATAAAATATATATATATATTTTA TATATATATATAAATATATATATATATATTTTATATATATATATATAAAT ATATATATATTTTATATATATATATAAATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0002 a0008c0020t0002	a0008c0020t0002g0059 a0008c0020t0002g0059	1	391	0.0026	489	c.532 others(504): Show c.532+441_532+442insTATATATATATATTTATATATATATATAAA ATATATATATATTTATATATATATATATAAAATATATATATATATATTTA TATATATATATAAAATATATATATATATTTTATATATATATATAAAATAT ATATATATATTTATATATATATATAAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATAAATATATATATATATTTATATATA TATAAATATATATATAAATATATATTTATTTATATATATAAATATATATT TATTTATATTTATATATATATATTTATATATATATATTTATATATATATA AATATATATATAAATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATATATTTATATATATAAATATATATATATT TATATATATATAAATATATATATATTTATATATATATAAATATATATATA TTTATATAT	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCA13_chr7_48166458_48652497	48481581	A A	ATAATGAA others(483): Show ATAATGAAAGAAAGACCTTATTTTAGAGTCCTCTCTATTATGTAGCATTC AATATGGGAACCTGGGTACAACTAGCATCTTGAAATTCCTCTTGGGCAAT TTTTGGGAAACGTTTTGTGTTGTGTTGAATTTCCTTGAGACTAAGGGGGT GAATCCAGATGAGGAAGATCAGCAGTGAGTGCTTCCCATTGCTTTGAATC TTAATAATATCTGCCCACTGTAATTTTCCCATATCCCCCAAATGTATTAT ATTGCTTCATGTATGAAGGCATCCCATAGGCTGACTGTATTGCCTGGGAC TCCCTACTGCCCTCTACCTGCCCCACTGGGGTTTGCCTGCCTCTCTTCTG CTGCCCCACCTCTTAATGTCTTTCAACATATACTAGAATCTCTGGTTTTC TGTTCTAACTCTGATGGTTAGCTTTTTTTTTTTTTAATGGAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19083.hp1 HG02145.hp2 NA19083.hp1	a0005 a0023 a0005 a0023	a0005c0023 a0023c0015 a0005c0023 a0023c0015	a0005c0023t0003 a0023c0015t0004 a0005c0023t0003 a0023c0015t0004	a0005c0023t0003g0138 a0023c0015t0004g0173 a0005c0023t0003g0138 a0023c0015t0004g0173	2	99	0.0202	490	c.130 others(509): Show c.13094+428_13094+429insAATGAAAGAAAGACCTTATTTTAGAG TCCTCTCTATTATGTAGCATTCAATATGGGAACCTGGGTACAACTAGCAT CTTGAAATTCCTCTTGGGCAATTTTTGGGAAACGTTTTGTGTTGTGTTGA ATTTCCTTGAGACTAAGGGGGTGAATCCAGATGAGGAAGATCAGCAGTGA GTGCTTCCCATTGCTTTGAATCTTAATAATATCTGCCCACTGTAATTTTC CCATATCCCCCAAATGTATTATATTGCTTCATGTATGAAGGCATCCCATA GGCTGACTGTATTGCCTGGGACTCCCTACTGCCCTCTACCTGCCCCACTG GGGTTTGCCTGCCTCTCTTCTGCTGCCCCACCTCTTAATGTCTTTCAACA TATACTAGAATCTCTGGTTTTCTGTTCTAACTCTGATGGTTAGCTTTTTT TTTTTTTAATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCAC GATCTCGGCTCACT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	46/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTN2_chr1_236681499_236769631	236756884	G G	GTTAGAAC others(483): Show GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTT AGAACCCTGGTTATAGAGTATATACTACAGAGTGCCCGCTGCCACTGTTA GAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCATTAG AACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCCACTGTTAGAA CCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAAC CCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACC CTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	334	0.0030	490	c.215 others(507): Show c.2155-540_2155-539insTATAGAGTATATACTGCAGAGTGCCCGC TGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCT GCCACTGTTAGAACCCTGGTTATAGAGTATATACTACAGAGTGCCCGCTG CCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGC CACCATTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCC ACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCCA CTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCAC TGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACT GTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCA TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCCTGGT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(483): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	224	0.0045	490	c.-10 others(501): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(483): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	490	c.-10 others(501): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(483): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	490	c.-10 others(501): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(483): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	490	c.-10 others(501): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100058241	C C	CTAACACC others(483): Show CTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACACCCC CTATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGG CTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACA CCCCTATCCCGGCTCTAACCGTCCTATCCCGGCTCTAACACCCCTATCCC GGCTCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAAC CCTCCTATCCCAGCTCTAACACCCCATATCCCGGCTCTAACCCTCCTATC CCGGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCT AACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACCGTCCTA TCCCGGCTCTAACACCCTTATCCCGGCTCTAACCCTCCTATCCCGGCTCT TAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(28): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01981.hp1 HG02040.hp1 HG02080.hp1 HG02129.hp1 HG02155.hp2 HG03017.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 NA18955.hp1 NA19000.hp2 NA19009.hp1 NA19012.hp2 NA19058.hp1 NA19064.hp2 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0002 a0001c0007 a0001c0010 others(17): Show a0001c0002 a0001c0007 a0001c0010 a0001c0014 a0001c0021 a0002c0001 a0002c0004 a0002c0011 a0002c0061 a0002c0063 a0003c0006 a0003c0009 a0003c0041 a0004c0003 a0004c0053 a0005c0026 a0006c0016 a0006c0055 a0007c0060 a0009c0027	a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 others(27): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0019 a0001c0007t0007 a0001c0010t0011 a0001c0010t0028 a0001c0014t0007 a0001c0014t0060 a0001c0021t0004 a0002c0001t0002 a0002c0001t0005 a0002c0004t0002 a0002c0004t0005 a0002c0011t0064 a0002c0061t0011 a0002c0063t0004 a0003c0006t0001 a0003c0006t0045 a0003c0009t0001 a0003c0041t0001 a0004c0003t0001 a0004c0003t0027 a0004c0053t0001 a0005c0026t0005 a0006c0016t0002 a0006c0055t0029 a0007c0060t0003 a0009c0027t0001	a0001c0002t0004g0148 a0001c0002t0007g0180 a0001c0002t0009g0028 others(28): Show a0001c0002t0004g0148 a0001c0002t0007g0180 a0001c0002t0009g0028 a0001c0002t0011g0160 a0001c0002t0019g0026 a0001c0007t0007g0066 a0001c0010t0011g0117 a0001c0010t0028g0037 a0001c0014t0007g0105 a0001c0014t0060g0166 a0001c0021t0004g0219 a0002c0001t0002g0174 a0002c0001t0005g0108 a0002c0001t0005g0121 a0002c0004t0002g0125 a0002c0004t0005g0151 a0002c0011t0064g0226 a0002c0061t0011g0091 a0002c0063t0004g0150 a0003c0006t0001g0056 a0003c0006t0045g0115 a0003c0009t0001g0218 a0003c0041t0001g0102 a0004c0003t0001g0069 a0004c0003t0027g0034 a0004c0053t0001g0080 a0005c0026t0005g0195 a0006c0016t0002g0194 a0006c0055t0029g0033 a0007c0060t0003g0009 a0009c0027t0001g0216	31	213	0.1455	490	c.213 others(509): Show c.2138-4188_2138-4187insAGAGCCGGGATAGGAGGGTTAGAGCC GGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAAGG GTGTTAGAGCCGGGATAGGACGGTTAGAGCCGGGATAGGAGGGTTAGAGC CGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGG GGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATATGGGGTGTTAG AGCTGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGAT AGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGACGGTTA GAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGA TAGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGG TTAGAGCCGGGATAGGGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCG GGATAGGGGTGTTA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TATATACA others(483): Show TATATACACGTATATATACGTATACGTGTACACACACACACGTATATATA CGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACATACACGTATATACGTATACGTGTACA CACACATACACGTATATACGTATACGTGTACACACACATACACGTATATA CGTATACGTGTACACACACATACGTATACGTGTACACACACATACACGTA TACGTGTACACACACATACACGTATACGTGTACACACACATACACGTATA CGTGTACACACACATACACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	63	0.0159	490	c.48- others(507): Show c.48-70583_48-70582insTATACACGTATATATACGTATACGTGTA CACACACACACGTATATATACGTATACGTGTACACACACACGTATATATA CGTATACGTGTACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACATACACG TATATACGTATACGTGTACACACACATACACGTATATACGTATACGTGTA CACACACATACACGTATATACGTATACGTGTACACACACATACGTATACG TGTACACACACATACACGTATACGTGTACACACACATACACGTATACGTG TACACACACATACACGTATACGTGTACACACACATACACGTATACGTGTA CACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	376503	G G	GTGAGAAC others(483): Show GTGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA TGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAAT GAGAACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGTGAATGAATG AGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGA GAACCGTGGGGTGAACACGGAGAAACACAGGAAAGATGTGAATGAATGAG AACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGTGAATGAATGAGA ACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAA CCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAAC CGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAACC GTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0039 a0005c0005t0039	a0005c0005t0039g0250 a0005c0005t0039g0250	1	64	0.0156	490	c.245 others(503): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACACGGAGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAA AGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAA GATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAG ATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGA TGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGAT GTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATG TGAATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	376503	G G	GTGAGAAC others(483): Show GTGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA TGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAAT GAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATG AGAACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGTGAATGAATGA GAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAG AACCGTGGGGTGAACACGGAGAAACACAGGAAAGATGTGAATGAATGAGA ACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGTGAATGAATGAGAA CCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAAC CGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAACC GTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG01081.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0258 a0001c0001t0003g0260	2	65	0.0308	490	c.245 others(503): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACACGGAGAAACACAGGAA AGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAAA GATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAG ATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGA TGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGAT GTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATG TGAATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	376503	G G	GTGAGAAC others(483): Show GTGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA TGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAAT GAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATG AGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGA GAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAG AACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGA ACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAA CCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAAC CGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAACC GTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0111 a0003c0004t0016g0111	1	64	0.0156	490	c.245 others(503): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAA AGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAA GATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAG ATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGA TGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGAT GTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATG TGAATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	376544	G G	GTGAATGA others(483): Show GTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATG TGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGT GAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGTG AATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGA ATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGTGAA TGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAAT GAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATG AATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGA ATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA TGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0226 a0001c0001t0032g0226	1	265	0.0038	490	c.245 others(503): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAA AGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAA GATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAG ATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGA TGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGAT GTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATA TGAATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391422	C C	CGGACGCA others(483): Show CGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAT GGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACG GGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGG GGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGG GGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGG GCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGG CAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGC AGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCA GGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGGGCAG GGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	247	0.0040	490	c.351 others(509): Show c.351+14708_351+14709insACGCAGGGCGATGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGCGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAG GGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGG GCCAGAGCGTGCATGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGG CCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGC CAGAGCGTGCATGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(483): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGAGGAGG GGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAG GGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGG AGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	183	0.0055	490	c.125 others(511): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCCCCC CCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCC TCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCC CTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCC CCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTC CCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(483): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAG GGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAG GGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGG AGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	183	0.0055	490	c.125 others(511): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCC CCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCC TCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCC CTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCC CCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTC CCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(483): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGGAGGGGGAGGGGGGGAGGA GGAGGGGGGGGGGAGGAGGGGGGGGGAGGGGGGAGGAGGAGGGGGGAGGA GGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG AGGGGAGGGGGAGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAG GAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAG GAGGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0176	1	183	0.0055	490	c.125 others(511): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCC CCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCC CCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCTCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCCCC TCCTCCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCCTCCTCCCCC TCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCC CTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCC CCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTC CCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(483): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACGTATTTATACATATATATGTATAAATACGTAC GTATTTATACATATATATGTATAAATACGTACGTATTTATACATATATAT GTATAAATACGTACGTATTTATACATATATATGTATAAATACGTACGTAT TTATACATATATGTATAAATACGTACATATTTATACATATATGTATAAAT ACATATACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0030 a0001c0001t0073g0030	1	209	0.0048	490	c.39 others(499): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACGTATTTATACATATATATGTATAAATACGTACGTATTTATACAT ATATATGTATAAATACGTACGTATTTATACATATATATGTATAAATACGT ACGTATTTATACATATATATGTATAAATACGTACGTATTTATACATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACATATACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(483): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACGTATTTATACATATATATGTATAAATACGTAC GTATTTATACATATATATGTATAAATACGTACGTATTTATACATATATAT GTATAAATACGTACGTATTTATACATATATATGTATAAATACGTACGTAT TTATACATATATGTATAAATACGTACATATTTATACATATATGTATAAAT ACATATACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0059 a0001c0001t0083g0059	1	209	0.0048	490	c.39 others(499): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACGTATTTATACATATATATGTATAAATACGTACGTATTTATACAT ATATATGTATAAATACGTACGTATTTATACATATATATGTATAAATACGT ACGTATTTATACATATATATGTATAAATACGTACGTATTTATACATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACATATACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(483): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACGTACATATTTATACATATATGTATAAAT ACATATACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0069 a0001c0001t0088g0069	1	209	0.0048	490	c.39 others(499): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACATATACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1897349	A A	ACTCTGGA others(483): Show ACTCTGGACAGCTGTGGGCTCTGTCCTAAGGGATCGGATTGCAGTTCCCA CTCTGGACAGCTGTGGGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCCC TCTGGACAGCTGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTTCCCCCT CTGGACAGCTGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTTCCCCCTC TGGACAGCTGTGGGCTCTGTCCTAAGGCATTGGATCGCAGTTCCCCCTCT GGACAGCTGTGGGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCCCTCTG GACAGCTGTGAGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCCCTCTGG ACAGCTGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTTCCCCCTCTGGA CAGCTGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTTCCCCCTCTGGAC AGCTGTGGGCTCTGTCCTAAGGCATTGGATCGCAGTTCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18948.hp1 NA18967.hp1 others(5): Show HG00597.hp2 NA18948.hp1 NA18967.hp1 NA18967.hp2 NA18980.hp1 NA19070.hp1 NA19084.hp1 NA19085.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0043 a0001c0155 a0001c0156 others(4): Show a0001c0043 a0001c0155 a0001c0156 a0006c0099 a0007c0053 a0007c0147 a0007c0148	a0001c0043t0014 a0001c0155t0006 a0001c0156t0002 others(4): Show a0001c0043t0014 a0001c0155t0006 a0001c0156t0002 a0006c0099t0002 a0007c0053t0001 a0007c0147t0002 a0007c0148t0002	a0001c0043t0014g0262 a0001c0155t0006g0129 a0001c0156t0002g0006 others(5): Show a0001c0043t0014g0262 a0001c0155t0006g0129 a0001c0156t0002g0006 a0006c0099t0002g0087 a0007c0053t0001g0005 a0007c0053t0001g0014 a0007c0147t0002g0004 a0007c0148t0002g0003	8	359	0.0223	490	c.155 others(507): Show c.1557+915_1557+916insGGCTCTGTCCTAAGGGATCGGATTGCAG TTCCCACTCTGGACAGCTGTGGGCTCTGTCCTAAGGGATCGGATCGCAGT TCCCCCTCTGGACAGCTGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTT CCCCCTCTGGACAGCTGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTTC CCCCTCTGGACAGCTGTGGGCTCTGTCCTAAGGCATTGGATCGCAGTTCC CCCTCTGGACAGCTGTGGGCTCTGTCCTAAGGGATCGGATCGCAGTTCCC CCTCTGGACAGCTGTGAGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCC CTCTGGACAGCTGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTTCCCCC TCTGGACAGCTGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTTCCCCCT CTGGACAGCTGTGGGCTCTGTCCTAAGGCATTGGATCGCAGTTCCCCCTC TGGACAGCTGTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID1B_chr6_156772378_157215779	157147227	A A	ACCCCCGC others(483): Show ACCCCCGCCTCCGGCCCTGCCCGCCGTCCCCCACCCCCCGCCTCCGACCC TGCCCGCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCTCACC CCCCGCCTCCGACCCTGCCCTCCGTCCCTCACCCCCCGCCTCCGGCCCTG CCCTCCGTCCCTCACCCCCCGCCTCCGGCCCTGCCCGCCGGCCCTCACCC CCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCC TCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCATCCCTCACCCCCGC CTCCGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCGCCA GTCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTCC GGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGGCCCTGCCCTCCGTCCC CCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0005 a0015c0025t0005	a0015c0025t0005g0131 a0015c0025t0005g0131	1	2	0.5000	490	c.276 others(509): Show c.2762-1395_2762-1394insCCCGCCTCCGGCCCTGCCCGCCGTCC CCCACCCCCCGCCTCCGACCCTGCCCGCCGTCCCCCACCCCCGCCTCCGA CCCTGCCCTCCGTCCCTCACCCCCCGCCTCCGACCCTGCCCTCCGTCCCT CACCCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCCGCCTCCGGC CCTGCCCGCCGGCCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCA CCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTG CCCTCCATCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCC AGCCTCCGACCCTGCCCGCCAGTCCTCACCCCCGCCTCCGACCCTGCCCG CCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGCC TCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGT CCCTCACCCCCGCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(483): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCGGGTGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	2	0.5000	490	c.-14 others(505): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACC TCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATC TCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(483): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	2	0.5000	490	c.-14 others(505): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACC TCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATC TCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(483): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCGGGTGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	2	0.5000	490	c.-14 others(505): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACC TCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATC TCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(483): Show GGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCGGGTGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	2	0.5000	490	c.-14 others(505): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACC TCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATC TCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(483): Show GAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	109	0.0092	490	c.784 others(505): Show c.784-574_784-573insAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(483): Show AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAG GGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGG CGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAG GGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGG AGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCG GGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGA GGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGCGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGG CGGGAGGGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	274	0.0036	490	c.465 others(505): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCC GCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCATCCCTCCCGCCCTCCCTC CCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCC TCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTC CGTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CCDC6_chr10_59783747_59911556	59882336	G G	GCGGGGAG others(483): Show GCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAG GAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGG AAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCC GGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGG GAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0028 a0002c0004t0001g0028	1	281	0.0036	490	c.303 others(509): Show c.303+23785_303+23786insGGCTTTCCTTTCCTTCTCCCCCTGGC TTTCCTTTCCTTCTCCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCC CCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCC TTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCC CGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CEP70_chr3_138489344_138599260	138544357	C C	CAAAAAAA others(483): Show CAAAAAAAAAAAAGTACTGGTGAGGATATAGAGAAAGAGGAATCCTGGTA CACTATAGGTGGGAATGAAAACTAGTACAACTACTATGGAAAACAGTATG GAGGTTCCTCAAAAAACTATTTAAAGTAACCTGTTGTCCAGGCACAGGCT CATGCCTGTAATCTCCACACTTTCGGAGGCTAAAGCAGGAGAATTGCTTG AGGCCAGGAGTTCAAGACCAACCTGGCCGACACAGTGAAATCCCCATCTC TTTTAAAAATTCCTTAACTTAAAAAATAACTTGTTATATCTATAAAATGT TTTTTTGTAAATCTCATGGTAACTACAAAGCAAAAATAAAACAGGTACAC TAAAAAAAAGCAAAAAATTAAAACAACCAAAAAAGAAGAAAATCACTTGA CCACAAAGGAAGACAGTAAAAAAGGAAGAAAACACAATGAGATATCATCT CACTCCAGTTAGAATGGCTATTACTCAAAAGACAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0028 a0001c0004t0006g0028	1	116	0.0086	490	c.466 others(507): Show c.466-7011_466-7010insTTTTTTTTGTCTTTTGAGTAATAGCCAT TCTAACTGGAGTGAGATGATATCTCATTGTGTTTTCTTCCTTTTTTACTG TCTTCCTTTGTGGTCAAGTGATTTTCTTCTTTTTTGGTTGTTTTAATTTT TTGCTTTTTTTTAGTGTACCTGTTTTATTTTTGCTTTGTAGTTACCATGA GATTTACAAAAAAACATTTTATAGATATAACAAGTTATTTTTTAAGTTAA GGAATTTTTAAAAGAGATGGGGATTTCACTGTGTCGGCCAGGTTGGTCTT GAACTCCTGGCCTCAAGCAATTCTCCTGCTTTAGCCTCCGAAAGTGTGGA GATTACAGGCATGAGCCTGTGCCTGGACAACAGGTTACTTTAAATAGTTT TTTGAGGAACCTCCATACTGTTTTCCATAGTAGTTGTACTAGTTTTCATT CCCACCTATAGTGTACCAGGATTCCTCTTTCTCTATATCCTCACCAGTAC TTTTTTTTTTTT	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	6/17			chr3	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(483): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCACCTGAGCCGTGCTGGTGTA GGTGGGATGCGGCCTGGCGGGATCTCCCTGGTCTTTTCCCTTCACCTCCT GTTCCTGCTTGTCACAGTATGGGTGCTCCCGCTCTGGTTCTTTTTGGCCC GGTCTGTCGCCGCTTCAGGCCGGGTACGACTTGTCAGCTGACGGCTCCGC CCCTCCACCCTTCCCCCCTCCTCCCAGACCCCCATCCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCC TCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	8	0.1250	490	c.69 others(501): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCACCTG AGCCGTGCTGGTGTAGGTGGGATGCGGCCTGGCGGGATCTCCCTGGTCTT TTCCCTTCACCTCCTGTTCCTGCTTGTCACAGTATGGGTGCTCCCGCTCT GGTTCTTTTTGGCCCGGTCTGTCGCCGCTTCAGGCCGGGTACGACTTGTC AGCTGACGGCTCCGCCCCTCCACCCTTCCCCCCTCCTCCCAGACCCCCAT CCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCC CTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCC TCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTT CCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(483): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCC TCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	8	0.1250	490	c.69 others(501): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCC CTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCC TCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTT CCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNIH4_chr1_224351879_224384452	224378516	A A	ACTGAGGC others(483): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTG AGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGA GGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAG GCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGG CCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGC CTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCC TAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0055 a0001c0001t0027g0055	1	16	0.0625	490	c.30 others(501): Show c.3093_*3094insCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACAT CTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCT GAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTG AATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGA ATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAA TGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAAT GCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGC	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3094	INFO_REALIGN_3_PRIME	chr1	TogoVar
CROCC2_chr2_240901336_240998311	240924549	C C	CCCCCCAC others(483): Show CCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACACTGAC CCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACTA ACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAACGCAGTCCCCCACACTAACCCAGT CCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCAACACTAACCC AGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTGAC CCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ACCCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0013 a0013	a0013c0076 a0013c0076	a0013c0076t0001 a0013c0076t0001	a0013c0076t0001g0150 a0013c0076t0001g0150	1	334	0.0030	490	c.489 others(507): Show c.489-1171_489-1170insCACACTGACCCGGCCCCCCACACTGACC CGGCCCCCCACACTGACCCAGTCCCCCACACTAACCCGGCCCCCACACTA ACCCGGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCC ACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACGCAGTC CCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCACACTGACCCG GCCCCCAACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTAAC CCGGCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCACAC TAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924568	C C	CCCCCACA others(483): Show CCCCCACACTAACCCAGCCCTCACACTAACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCACACTGACCCGGCCCCCACACTAACCCTAACCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC CACACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCCGGCC CCCCACACTAACCCGGCCCCCAACACTAACCCGGCCCCCACACTAACCCA GCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	300	0.0033	490	c.489 others(507): Show c.489-1142_489-1141insAGCCCTCACACTAACCCAGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCTAACCCC ACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCGGC CCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCAACACTAACCCGGCCCCCACAC TAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCC CCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924930	C C	CCCCCCAC others(483): Show CCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACC CGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTGA CCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCAACAC TAACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCC ACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCC CCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAG CCCCCACACTGACCCAGCCCCCACACTGACCCAGTCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0028 a0028	a0028c0030 a0028c0030	a0028c0030t0001 a0028c0030t0001	a0028c0030t0001g0046 a0028c0030t0001g0046	1	317	0.0032	490	c.489 others(505): Show c.489-784_489-783insAACCCAGTCCCCACACTAACCCAGCCCCCC ACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCC CCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGC CCCCAACACTAACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACC CAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACA CTAACCCAGCCCCCACACTGACCCAGCCCCCACACTGACCCAGTCCCCAC ACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCC CACACTAACCCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAG CCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461464	A A	AGCCACAT others(483): Show AGCCACATTCACCATGGAGGACCTATCCACACAGCAGCCACATTCACCAT GGGGGCTGTATCCGCACAGCACACACATTCACCGTGGAGGGCGTATCCGC ACAGCGGCCACATTCACCATGGAGGGCCTATCCACACAGCGGCCACATTC ACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTA TCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCA CATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGATG GCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGC GGCCACATTCACCATGGGGGGCGTATCCACACAGCAGCCACATTCACCAT GGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGC ACAGCGGCCACATTCACCATGGATGGCGTATCCGCACAGCG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0187 a0001c0001t0005g0187	1	203	0.0049	490	c.635 others(507): Show c.635-2823_635-2822insCGCTGTGCGGATACGCCATCCATGGTGA ATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGC GGATACGCCCCCCATGGTGAATGTGGCTGCTGTGTGGATACGCCCCCCAT GGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGC TGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGTGCGGATACGCCC CCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTG GCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATA CGCCCCCCATGGTGAATGTGGCCGCTGTGTGGATAGGCCCTCCATGGTGA ATGTGGCCGCTGTGCGGATACGCCCTCCACGGTGAATGTGTGTGCTGTGC GGATACAGCCCCCATGGTGAATGTGGCTGCTGTGTGGATAGGTCCTCCAT GGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461517	G G	GGCTGTAT others(483): Show GGCTGTATCCGCACAGCACACACATTCACCGTGGAGGGCGTATCCGCACA GCGGCCACATTCACCATGGAGGGCCTATCCACACAGCGGCCACATTCACC ATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCC GCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACAT TCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGATGGCG TATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGC CACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGG GGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCACA GCGGCCACATTCACCGTGGGGGGCATATCCGCACAGCGGCCACATTTACC ATGGATGGCGTATCCGCACAGCGGCCACATTCACCATGGAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18971.hp1 NA18952.hp2 NA18971.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0018 a0001c0010t0018	a0001c0010t0018g0026 a0001c0010t0018g0191 a0001c0010t0018g0026 a0001c0010t0018g0191	2	192	0.0104	490	c.635 others(507): Show c.635-2876_635-2875insATCCATGGTGAATGTGGCCGCTGTGCGG ATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATATGCCCCCCACGG TGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTG TGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCC CATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGC CGCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGTGCGGATACG CCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAAT GTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGG ATACGCCCCCCATGGTGAATGTGGCCGCTGTGTGGATAGGCCCTCCATGG TGAATGTGGCCGCTGTGCGGATACGCCCTCCACGGTGAATGTGTGTGCTG TGCGGATACAGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(483): Show CCACATTCACCATGGATGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCATGGATGGCGTATCCGCAC AGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCAC CATGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATC CGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACA TTCACCGTGGGGGGCATATCCGCACAGCGGCCACATTTACCGTGGATGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAC ACACATTCACCATGGAGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCAGCCACATTCACCATGGATGGCGTATCTGCAC AGCAGCCACATTCACCATGGGGGGCGTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	155	0.0065	490	c.635 others(507): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCC GCTGTGCGGATACGCCATCCACGGTAAATGTGGCCGCTGTGCGGATATGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCATCC ATGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411693	C C	CACGCGTG others(483): Show CACGCGTGTATATATACGTGTATATATACGCGTGTATATATACACATATA TATACATATATACACGTGTATATATACACGTGTATATACATGTGTATATA TACGTATATATACGTGTGTATATATACGTATATATATACGTGTGTATATA TACGTATATATATACGTGTGCATATATACGTATATATATACGTGTGCATA TATACGTATATATATACGTGTGCATATATACGTATATATATACGTGTGCA TATATACGTATATATATACGTGTGCATATATACGTATATATATACGTGTG CATATATACGTATATATATACGTGTGCATATATATATACGTATATATATA TACGTGTATGTATACGTATATATACGTATATATACACACGTATATATACA CGTATATATACGTATATATACACGTATATATATACGTATATATACACGTA TATATATACGTATATATACACGTATATATATACGTATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02451.hp1 HG02622.hp1	a0002 a0002	a0002c0030 a0002c0051 a0002c0030 a0002c0051	a0002c0030t0018 a0002c0051t0007 a0002c0030t0018 a0002c0051t0007	a0002c0030t0018g0122 a0002c0051t0007g0081 a0002c0030t0018g0122 a0002c0051t0007g0081	2	119	0.0168	490	c.156 others(509): Show c.1562-2089_1562-2088insATATATACGTATATATATACGTGTAT ATATACGTATATATATACGTGTATATATACGTATATATATACGTGTATAT ATACGTATATATACGTGTATATATACGTGTGTATATATACGTATATATAC GTATACATACACGTATATATATATACGTATATATATATGCACACGTATAT ATATACGTATATATGCACACGTATATATATACGTATATATGCACACGTAT ATATATACGTATATATGCACACGTATATATATACGTATATATGCACACGT ATATATATACGTATATATGCACACGTATATATATACGTATATATGCACAC GTATATATATACGTATATATACACACGTATATATATACGTATATATACAC ACGTATATATACGTATATATACACATGTATATACACGTGTATATATACAC GTGTATATATGTATATATATGTGTATATATACACGCGTATATATACACGT ATATATACACGCGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(483): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGG GAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0020 a0020	a0020c0112 a0020c0112	a0020c0112t0081 a0020c0112t0081	a0020c0112t0081g0090 a0020c0112t0081g0090	1	16	0.0625	490	c.416 others(511): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTC CCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCT CACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTBP1_chr4_1206445_1254130	1237471	T T	TCACCTCC others(483): Show TCACCTCCTGATGGTGTGCAGGGAAAACCCCGTGTCCACCTCCTGATGGG GCTCAGGAGAAACCGAGTGTCCACCTCCTGATGGGGCACAGGGCAAACCG AGTGTCCACCTCCTGATGGGGCTCAGGATAAACCGAGTGTCCACCTCCTG ATGGGGCACAGGGCAAACCGAGTGTCCACCTCCTGATGGGGCTCAGGACA AACCGAGTGTCCACCTCCTCATGGGGCTCAGGGAAAACCCGGTGTCCACC TCCTGATGGGGCTCAGGACAAACCGAGTGTCCACCTCCTGATGGGGCTCA GGGAAAACCCCATGTCCACCTCCTGATGGGGCTCAGGGAAAACCCCGTGT CCACCTCCTGATGGGGCTCAGGACAAACCCCGTGTCCACCTCCTGATGGG GCTCAGTGAAAACCCGGTGTTCACCTCCTGATGGTGTGCAGGGAAAACCC CGTGTCCACCTCCTGATGGGGCTCAGGACAAACCCCGTGTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02809.hp2 HG02886.hp1 HG01167.hp1 HG02809.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0333 a0001c0001t0001g0018 a0001c0001t0001g0333	3	365	0.0082	490	c.162 others(505): Show c.162+711_162+712insGACACGGGGTTTGTCCTGAGCCCCATCAGG AGGTGGACACGGGGTTTTCCCTGCACACCATCAGGAGGTGAACACCGGGT TTTCACTGAGCCCCATCAGGAGGTGGACACGGGGTTTGTCCTGAGCCCCA TCAGGAGGTGGACACGGGGTTTTCCCTGAGCCCCATCAGGAGGTGGACAT GGGGTTTTCCCTGAGCCCCATCAGGAGGTGGACACTCGGTTTGTCCTGAG CCCCATCAGGAGGTGGACACCGGGTTTTCCCTGAGCCCCATGAGGAGGTG GACACTCGGTTTGTCCTGAGCCCCATCAGGAGGTGGACACTCGGTTTGCC CTGTGCCCCATCAGGAGGTGGACACTCGGTTTATCCTGAGCCCCATCAGG AGGTGGACACTCGGTTTGCCCTGTGCCCCATCAGGAGGTGGACACTCGGT TTCTCCTGAGCCCCATCAGGAGGTGGACACGGGGTTTTCCCTGCACACCA TCAGGAGGTG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar

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