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
ACAP3_chr1_1287391_1312930	1289167	C C	CCGTGTCT others(175): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	295	0.0034	182	c.43 others(193): Show c.4396_*4397insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3223		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289187	C C	CCGTGTCT others(175): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	295	0.0034	182	c.43 others(193): Show c.4376_*4377insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3203		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(175): Show CCGTGTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	295	0.0034	182	c.42 others(193): Show c.4206_*4207insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGACACGGGGGACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	C C	CCGTGTCT others(175): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0168 a0001c0011t0001g0168	1	295	0.0034	182	c.41 others(193): Show c.4168_*4169insACGGGGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289471	C C	CCGTGTCT others(175): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	295	0.0034	182	c.40 others(193): Show c.4092_*4093insACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGGGA CACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289689	T T	TCCCGTGT others(175): Show TCCCGTGTCCCTGCCCCATCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCCCCATCCCGTGTCCCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	295	0.0034	182	c.38 others(193): Show c.3874_*3875insGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGA GACACGGGACGGGGCAGGGACACGGGATGGGGCAGGGACACGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACGGGATGGGGCAGGGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2701		chr1	TogoVar
ACER3_chr11_76855918_77031797	77005945	A A	AATTATAC others(175): Show AATTATACCAATTATATACCAAAATATAATTGGTATATACATATATATAA TATACATATATATATTATATATATACATATATATATATTATATATATACA TATATATTATATATATACATATATATATTATATATATATACATATATATA TTATATATATATACATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0159 a0001c0001t0005g0159	1	346	0.0029	182	c.497 others(199): Show c.497+7126_497+7127insTATACCAATTATATACCAAAATATAATT GGTATATACATATATATAATATACATATATATATTATATATATACATATA TATATATTATATATATACATATATATTATATATATACATATATATATTAT ATATATATACATATATATATTATATATATATACATATATATATTATATAT ATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTN4_chr19_38642649_38736589	38735967	C C	CGGGGCGG others(175): Show CGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGGTTC TGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTC TGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTC TGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	314	0.0032	182	c.65 others(193): Show c.6535_*6536insGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGG GCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGG GCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4379		chr19	TogoVar
ACTRT2_chr1_3016467_3027903	3016487	G G	GGGCGGGG others(175): Show GGGCGGGGTGGAGGAAGGGGAGAGGAAGGGAAAGAGGGAGGGAGGGGAGA GGAAGGGAATGAGGGAGGGAGAAAGGAGAGAGGAAGGGAAGGAGGGATGG AGGAGGGAGGAAGGGAAGGAGAGAGGGACGGAGGGAGGAGGGAGGAAGGG AAGGAGGGAGGGAGGGAGGAGGGAGGAAGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02717.hp1 HG02723.hp2 others(3): Show HG01123.hp1 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	6	366	0.0164	182	c.-52 others(193): Show c.-5200_-5199insGGCGGGGTGGAGGAAGGGGAGAGGAAGGGAAAGA GGGAGGGAGGGGAGAGGAAGGGAATGAGGGAGGGAGAAAGGAGAGAGGAA GGGAAGGAGGGATGGAGGAGGGAGGAAGGGAAGGAGAGAGGGACGGAGGG AGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGAAGGGAA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4979		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016532	A A	AGGGAATG others(175): Show AGGGAATGAGGGAGGGAGAAAGGAGAGAGGAAGGGAAGGAGGGATGGAGG AGGGAGGAAGGGAAGGAGAGAGGGACGGAGGGAGGAGGGAGGAAGGGAAG GAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGG GAGGAGGGGAGGAAGGGAAGGAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	1	366	0.0027	182	c.-51 others(193): Show c.-5155_-5154insGGGAATGAGGGAGGGAGAAAGGAGAGAGGAAGGG AAGGAGGGATGGAGGAGGGAGGAAGGGAAGGAGAGAGGGACGGAGGGAGG AGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGA AGGGAAGGAGGGAGGGAGGAGGGGAGGAAGGGAAGGAGGGAGGGAGGG	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4934		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770930	A A	AATAAAAA others(175): Show AATAAAAATTTATATTTAGATATCATATATAAAAATTTATATTTATATAT CATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAAT ATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	182	c.-14 others(193): Show c.-1411_-1410insATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATGA TATATAAATATAAATTTTTATATATGATATCTAAATATAAATTTTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1370		chr3	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(175): Show GGTGTGTCTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATA TGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTA TATGTGCGTGTGTGTACACACACCTATATGTGC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	332	0.0030	182	c.130 others(201): Show c.1302+3274_1302+3275insCTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGT GTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGC GTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS17_chr15_99966437_100346975	100162504	A A	ATGTGTGT others(175): Show ATGTGTGTATATATATGCACATATACACATTATGTGTGTATATATATGCA CATATACACATTATGTGTGTATATATATGCACATATACACATTATGTGTG TATATATATGCACATATACACATTATGTGTGTATATATATGCACATATAC ACATTATGTGTATATATATGCACATATACACAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0020 a0001c0010t0020	a0001c0010t0020g0004 a0001c0010t0020g0004	1	228	0.0044	182	c.118 others(201): Show c.1182-7185_1182-7184insATGTGTATATGTGCATATATATACAC ATAATGTGTATATGTGCATATATATACACACATAATGTGTATATGTGCAT ATATATACACACATAATGTGTATATGTGCATATATATACACACATAATGT GTATATGTGCATATATATACACACATAATGTGTATATGTGCATATATATA CACACA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21			chr15	TogoVar
ADGB_chr6_146593972_146820462	146615248	T T	TAAGAATT others(175): Show TAAGAATTCACCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0077 a0003c0077	a0003c0077t0001 a0003c0077t0001	a0003c0077t0001g0241 a0003c0077t0001g0241	1	276	0.0036	182	c.74+ others(199): Show c.74+16144_74+16145insCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAT TCAC	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131030082	A A	AACAGTGA others(175): Show AACAGTGACATTCCCAGGCTCTGGGATTAGGTTGTGGACCCCTCATTCGG TGACATTCCCAGGCTCTGGGATTAGGTTGTGGACCCCTCGTTCGGTGACA TTCCCAGGCTCTGGGGTTAGGTTGTGGACCCCTCTTATGGTAACATTCCC AGGGTCTGGGGTTAGGATGTGGACCCCTCGTAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0003 a0002c0031t0003	a0002c0031t0003g0089 a0002c0031t0003g0089	1	242	0.0041	182	c.147 others(203): Show c.1473+15742_1473+15743insACAGTGACATTCCCAGGCTCTGGG ATTAGGTTGTGGACCCCTCATTCGGTGACATTCCCAGGCTCTGGGATTAG GTTGTGGACCCCTCGTTCGGTGACATTCCCAGGCTCTGGGGTTAGGTTGT GGACCCCTCTTATGGTAACATTCCCAGGGTCTGGGGTTAGGATGTGGACC CCTCGTAC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24			chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131030082	A A	AACAGTGA others(175): Show AACAGTGACATTCCCAGGCTCTGGGATTAGGTTGTGGACCCCTCATTCGG TGACATTCCCAGGCTCTGGGATTAGGTTGTGGACCCCTCGTTCGGTGACA TTCCCAGGCTCTGGGGTTAGGTTGTGGACCCCTCTTATGGTAACATTCCC TGGGTCTGGGGTTAGGATGTGGACCCCTCGTAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01496.hp1 HG02109.hp2 others(5): Show HG00738.hp2 HG01496.hp1 HG02109.hp2 HG02280.hp1 HG02559.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0012 a0006c0035	a0001c0001t0016 a0001c0002t0001 a0001c0003t0004 others(3): Show a0001c0001t0016 a0001c0002t0001 a0001c0003t0004 a0001c0003t0012 a0002c0012t0017 a0006c0035t0047	a0001c0001t0016g0147 a0001c0002t0001g0223 a0001c0003t0004g0121 others(5): Show a0001c0001t0016g0147 a0001c0002t0001g0223 a0001c0003t0004g0121 a0001c0003t0004g0122 a0001c0003t0012g0025 a0001c0003t0012g0027 a0002c0012t0017g0017 a0006c0035t0047g0219	8	242	0.0331	182	c.147 others(203): Show c.1473+15742_1473+15743insACAGTGACATTCCCAGGCTCTGGG ATTAGGTTGTGGACCCCTCATTCGGTGACATTCCCAGGCTCTGGGATTAG GTTGTGGACCCCTCGTTCGGTGACATTCCCAGGCTCTGGGGTTAGGTTGT GGACCCCTCTTATGGTAACATTCCCTGGGTCTGGGGTTAGGATGTGGACC CCTCGTAC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24			chr12	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(175): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0045 a0003c0003t0002g0045	1	218	0.0046	182	c.32- others(195): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(175): Show ATATATATATAAATATATATATTTATATATATATATATTTATATATATAA ATATATATTTATAAATATATATTTATATATATAAATATATATATTTATAA ATATATATTTATATATATAAATATATATATTTATAAATATATATTTATAT ATATAAATATATATATTTATAAATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0063 a0001c0001t0014g0063	1	104	0.0096	182	c.34+ others(199): Show c.34+75810_34+75811insAATATATATATTTATAAATATATATATT TATATATATAAATATATATTTATAAATATATATATTTATATATATAAATA TATATTTATAAATATATATATTTATATATATAAATATATATTTATAAATA TATATTTATATATATAAATATATATATATATAAATATATATATTTATATA TATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(175): Show TATACATATATAAATATATATATACATATATAAATATATATATACATATA TAAATATATATACATATATAAATATATATATACATATATAAATATATATA CATATATAAATATATATATACATATATAAATATATATACATATATAAATA TATATACATATATAAATATATATACATATATAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19009.hp1 NA19079.hp1 others(1): Show NA18959.hp1 NA19009.hp1 NA19079.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0062 a0001c0001t0002 a0001c0001t0003 a0001c0001t0062	a0001c0001t0002g0307 a0001c0001t0002g0382 a0001c0001t0003g0353 others(1): Show a0001c0001t0002g0307 a0001c0001t0002g0382 a0001c0001t0003g0353 a0001c0001t0062g0354	4	462	0.0087	182	c.151 others(199): Show c.151+5682_151+5683insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATATTTAT ATATGTATATATATTTATATATGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATATTTATATATGTATATATATATTTATATAT GTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(175): Show TATACATATATAAATATATATATACATATATAAATATATATATACATATA TAAATATATATATACATATATAAATATATATACATATATAAATATATATA CATATATAAATATATATATACATATATAAATATATATACATATATAAATA TATATACATATATAAATATATATACATATATAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0258 a0001c0001t0012g0258	1	462	0.0022	182	c.151 others(199): Show c.151+5682_151+5683insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATATTTAT ATATGTATATATATTTATATATGTATATATATTTATATATGTATATATAT ATTTATATATGTATATATATATTTATATATGTATATATATATTTATATAT GTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(175): Show TATACATATATAAATATATATATACATATATAAATATATATATACATATA TAAATATATATATACATATATAAATATATATACATATATAAATATATATA TACATATATAAATATATATACATATATAAATATATATACATATATAAATA TATATACATATATAAATATATATACATATATAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18998.hp2 NA19003.hp2 others(1): Show HG04228.hp2 NA18998.hp2 NA19003.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0019 a0001c0001t0002 a0001c0001t0014 a0001c0001t0019	a0001c0001t0002g0243 a0001c0001t0002g0372 a0001c0001t0014g0334 others(1): Show a0001c0001t0002g0243 a0001c0001t0002g0372 a0001c0001t0014g0334 a0001c0001t0019g0309	4	462	0.0087	182	c.151 others(199): Show c.151+5682_151+5683insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATTTATAT ATGTATATATATATTTATATATGTATATATATTTATATATGTATATATAT ATTTATATATGTATATATATATTTATATATGTATATATATATTTATATAT GTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(175): Show TATACATATATAAATATATATATACATATATAAATATATATTTACATATA TAAATATATATATACATATATAAATATATATACATATATAAATATATATA CATATATAAATATATATATACATATATAAATATATATACATATATAAATA TATATACATATATAAATATATATACATATATAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	462	0.0022	182	c.151 others(199): Show c.151+5682_151+5683insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATATTTAT ATATGTATATATATTTATATATGTATATATATTTATATATGTATATATAT ATTTATATATGTAAATATATATTTATATATGTATATATATATTTATATAT GTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK5_chr1_77277019_77564966	77367854	A A	AATATATG others(175): Show AATATATGTTATATATATTATATGTTATATATATTATATATAATATGTTA TATATATTATATATAACATATATTATATATAATATATATGTTATATATAA TATATGTTATATATATTATATATAACATATGTTATATATAATATATGTTA TATATATTATATATAACATATGTTATATATAAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0094 a0002c0002t0013g0094	1	284	0.0035	182	c.891 others(201): Show c.891+27292_891+27293insGTTATATATATTATATGTTATATATA TTATATATAATATGTTATATATATTATATATAACATATATTATATATAAT ATATATGTTATATATAATATATGTTATATATATTATATATAACATATGTT ATATATAATATATGTTATATATATTATATATAACATATGTTATATATAAT ATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(175): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGGAGAGGGGGAGGGGAGGGG GGAGAGGGGGAGGGGAGGGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGA AGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	356	0.0028	182	c.667 others(197): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCCTCCCCTCCCCCTC TCCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCTCTCC CC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ARHGEF7_chr13_111110310_111310732	111221346	T T	TAGATATA others(175): Show TAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATA TCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTA TATATATCTATATAGATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATATAGATATATATAGAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0234 a0001c0001t0006g0234	1	274	0.0037	182	c.670 others(199): Show c.670+3467_670+3468insGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATGTCTATATA TATCTATATAGATATATATGTCTATATATATCTATATATAGATATATATA GACA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(175): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCT CCCCATCCCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCCCCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	264	0.0038	182	c.102 others(199): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCTCCCCC TCCCCATCCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARMC3_chr10_22923053_23043523	22923090	A A	AATAATTA others(175): Show AATAATTAACAAAACGTTAAATAAAAATAAAAATCCCATAAAAAATAAAA TAATATCAACATAAAATAATTAATATAATTAAAAAAAAAAATAAAACAAA TAAGAATCAACATAATATATAACTACAAGACCTAAAAGAAACTATAATAA ACAAAAAAAAATTCATCAATAAACTACGATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0118 a0007c0009t0001g0118	1	302	0.0033	182	c.-50 others(193): Show c.-5018_-5017insATAATTAACAAAACGTTAAATAAAAATAAAAATC CCATAAAAAATAAAATAATATCAACATAAAATAATTAATATAATTAAAAA AAAAAATAAAACAAATAAGAATCAACATAATATATAACTACAAGACCTAA AAGAAACTATAATAAACAAAAAAAAATTCATCAATAAACTACGATCAT	ARMC3	ENSG00000165309.14	transcript	ENST00000298032.10	protein_coding		4962		chr10	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(175): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG01099.hp1 others(24): Show HG00558.hp2 HG00609.hp1 HG01099.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01943.hp2 HG01952.hp2 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02630.hp2 NA18747.hp1 NA18947.hp1 NA18948.hp2 NA18960.hp2 NA18966.hp2 NA18978.hp1 NA18980.hp2 NA18986.hp1 NA18991.hp1 NA18997.hp1 NA19009.hp2 NA19060.hp2 NA19062.hp2 NA19067.hp1 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0042 a0002c0002t0001 a0002c0002t0010 a0002c0002t0020 a0002c0002t0038 a0003c0003t0001	a0001c0001t0001g0113 a0001c0001t0001g0150 a0001c0001t0001g0213 others(19): Show a0001c0001t0001g0113 a0001c0001t0001g0150 a0001c0001t0001g0213 a0001c0001t0001g0230 a0001c0001t0003g0055 a0001c0001t0004g0108 a0001c0001t0042g0250 a0002c0002t0001g0035 a0002c0002t0001g0063 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0252 a0002c0002t0001g0260 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0274 a0002c0002t0010g0257 a0002c0002t0020g0036 a0002c0002t0038g0253 a0003c0003t0001g0004 a0003c0003t0001g0122 a0003c0003t0001g0124	27	378	0.0714	182	c.960 others(199): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTT CCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(175): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(50): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01258.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp2 HG02273.hp1 HG02451.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG04115.hp1 HG04204.hp2 NA18982.hp2 NA19043.hp1 NA19043.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0003c0008 a0003c0010 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0013 a0002c0002t0019 a0002c0002t0030 a0002c0002t0034 a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0013 a0003c0003t0017 a0003c0003t0022 a0003c0003t0032 a0003c0003t0036 a0003c0008t0002 a0003c0010t0041 a0004c0006t0012	a0001c0001t0001g0158 a0001c0001t0002g0017 a0001c0001t0002g0024 others(44): Show a0001c0001t0001g0158 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0072 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0229 a0001c0001t0009g0084 a0001c0001t0009g0133 a0001c0001t0009g0164 a0001c0001t0009g0291 a0001c0001t0011g0196 a0001c0001t0019g0198 a0002c0002t0001g0071 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0161 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0002g0012 a0002c0002t0002g0079 a0002c0002t0002g0082 a0002c0002t0002g0160 a0002c0002t0002g0241 a0002c0002t0002g0243 a0002c0002t0002g0292 a0002c0002t0009g0240 a0002c0002t0013g0044 a0002c0002t0013g0233 a0002c0002t0019g0307 a0002c0002t0030g0081 a0002c0002t0034g0052 a0003c0003t0001g0103 a0003c0003t0003g0102 a0003c0003t0006g0132 a0003c0003t0013g0235 a0003c0003t0017g0056 a0003c0003t0022g0016 a0003c0003t0032g0077 a0003c0003t0036g0070 a0003c0008t0002g0015 a0003c0008t0002g0078 a0003c0010t0041g0096 a0004c0006t0012g0048	53	378	0.1402	182	c.960 others(199): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTT CCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP10B_chr5_160558120_160857211	160653985	A A	AATATATG others(175): Show AATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATAT ACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTT GTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAT ATATAAATATATGTTGTATATACGTATATACAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19083.hp1 NA19060.hp1 NA19083.hp1	a0001 a0025 a0001 a0025	a0001c0002 a0025c0032 a0001c0002 a0025c0032	a0001c0002t0011 a0025c0032t0011 a0001c0002t0011 a0025c0032t0011	a0001c0002t0011g0084 a0025c0032t0011g0036 a0001c0002t0011g0084 a0025c0032t0011g0036	2	236	0.0085	182	c.676 others(199): Show c.676-4730_676-4729insATGTATATACGTATATACAACATATATT TATATATGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATTTATGTTGTATATACGTATATACAACATATATTTAT GTTGTATATACGTATATACAACATATATAGTATATACGTATATACAACAT ATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTATATAT others(175): Show GTATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0222 a0001c0001t0007g0222	1	386	0.0026	182	c.-81 others(201): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATACCCA TGGGTATATATATATATATATATATATATATACCCATGGGTATATATATA TATATATATATATATATATATACCCATGGGTATATATATATATATATATA TATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236282	G G	GTATATAT others(175): Show GTATATATATATATATATATATATATATATATATATACCCATGGGTATAT ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATACCCATGGGT ATATATATATATATATATATATACCCATGGGTA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	386	0.0026	182	c.-81 others(201): Show c.-81-13410_-81-13409insTATATACCCATGGGTATATATATATA TATATATATATATATACCCATGGGTATATATATATATATATATATATATA TACCCATGGGTATATATATATATATATATATATACCCATGGGTATATATA TATATATATATATATACCCATGGGTATATATATATATATATATATATATA TATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(175): Show ATATATATATATATATATATATATATATATATACCCATGGGTATATATAT ATATATATATATATATATACCCATGGGTATATATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18983.hp1 NA18952.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0122 a0001c0001t0001g0123	2	386	0.0052	182	c.-81 others(201): Show c.-81-13410_-81-13409insTATACCCATGGGTATATATATATATA TATATATATATATACCCATGGGTATATATATATATATATATATATATATA TATACCCATGGGTATATATATATATATATATATATATACCCATGGGTATA TATATATATATATATATATACCCATGGGTATATATATATATATATATATA TATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(175): Show ATATATATATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATACCCATGGGTATATATATATATATATATAT ATATATATATACCCATGGGTATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0004 a0004c0011t0004	a0004c0011t0004g0051 a0004c0011t0004g0051	1	386	0.0026	182	c.-81 others(201): Show c.-81-13410_-81-13409insTATATACCCATGGGTATATATATATA TATATATATATATATACCCATGGGTATATATATATATATATATATATATA TATATACCCATGGGTATATATATATATATATATATATACCCATGGGTATA TATATATATATATATATATACCCATGGGTATATATATATATATATATATA TATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236286	A A	ATATATAT others(175): Show ATATATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATATATACCCATGGGTATATATATATATATATATATATACACCCATGGGT ATATATATATATATATATATATACCCATGGGTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	386	0.0026	182	c.-81 others(201): Show c.-81-13410_-81-13409insTATACCCATGGGTATATATATATATA TATATATATATATACCCATGGGTATATATATATATATATATATATATATA TATACCCATGGGTATATATATATATATATATATATACACCCATGGGTATA TATATATATATATATATATACCCATGGGTGTATATATATATATATATATA TATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(175): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATATATATATACCCAT GGGTATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0095 a0001c0003t0003g0095	1	386	0.0026	182	c.-81 others(201): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATACCCATGGGTATATATATATATATATATATATATATATATACCCA TGGGTATATATATATATATATATATATATATACCCATGGGTATATATATA TATATATATATATATATATATATATACCCATGGGTATATATATATATATA TATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(175): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0045 a0001c0003t0030g0045	1	386	0.0026	182	c.-81 others(201): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATACCCATG GGTATATATATATATATATATATATATATATATATATATACCCATGGGTA TATATATATATATATATATATATATACCCATGGGTATATATATATATATA TATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCCCCCG others(175): Show CCCCCCCGCCTCCCCACCCCAGCTGTGTGAGCCTCCTCAGACCACCCCCA CGCCCCCCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCT CCGACCAACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCC CCGCCCCGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0003 a0002c0017t0003	a0002c0017t0003g0231 a0002c0017t0003g0231	1	258	0.0039	182	c.323 others(197): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGGGGTGGGGAGGCGGGG GG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BSG_chr19_567596_588493	570679	G G	GGGTGGAA others(175): Show GGGTGGAAGCGGCGGAGGGGTGGGTGGGGGAGGGGCGGGTGGAAGGGGCG GGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGTGGGAGGGGTGGGTGGGGG AGGGGCGGAGGGGTGGGGGAGGGGGCGGAGGGGTGGGTGGGGGAGGGGTG GGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02080.hp1 HG02145.hp1 others(1): Show HG02056.hp1 HG02080.hp1 HG02145.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0041 others(1): Show a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0041 a0001c0001t0017g0022	4	306	0.0131	182	c.-19 others(193): Show c.-1956_-1955insGGTGGAAGCGGCGGAGGGGTGGGTGGGGGAGGGG CGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGTGGG AGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGGGAGGGGGCGGAGGGGTG GGTGGGGGAGGGGTGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1916		chr19	TogoVar
C20orf96_chr20_265863_295750	279045	C C	CGGGAGGG others(175): Show CGGGAGGGCGGGACGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAG GGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGG AGGGCGGAGGGAAGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACG GAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0287 a0001c0005t0001g0287	1	410	0.0024	182	c.465 others(197): Show c.465+126_465+127insTCCCTCCGCCCTCCCTCCCTCCGTCCCGCC CTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCTTCCCTCCGC CCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCG TCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCGTCCCGCCCTC CC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C7orf50_chr7_992006_1143247	1128829	C C	CGTCACCC others(175): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCTCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCTCA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	326	0.0031	182	c.-1- others(197): Show c.-1-1444_-1-1443insTGAGATGAGCCGAGATGGCGCCACTGCACT CCAGCCCGGGTGACGGTGGGATGAGCCGAGATCGCGCCACTGCACTCCAG CCCGGGTGACGGTGAGATGAGCCGAGATTGTGCCACTGCACTCCAGCCCG GGTGACGGTGAGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTG AC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128923	C C	CGTCACCT others(175): Show CGTCACCTGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGC TGGAGTGCAGTGGCGCGATCTCGGCTCATCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	326	0.0031	182	c.-1- others(197): Show c.-1-1538_-1-1537insTGGGATGAGCCGAGATCGCGCCACTGCACT CCAGCCCGGGTGACGGTGAGATGAGCCGAGATGGCGCCACTGCACTCCAG CCCGGGTGACGGTGGGATGAGCCGAGATCGCGCCACTGCACTCCAGCCCG GGTGACGGTGAGATGAGCTGAGATCGCGCCACTGCACTCCAGCCCAGGTG AC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(175): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTC TTTCTTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCT CTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02970.hp2 HG02683.hp1 HG02970.hp2	a0002 a0004 a0002 a0004	a0002c0010 a0004c0093 a0002c0010 a0004c0093	a0002c0010t0003 a0004c0093t0010 a0002c0010t0003 a0004c0093t0010	a0002c0010t0003g0023 a0004c0093t0010g0046 a0002c0010t0003g0023 a0004c0093t0010g0046	2	218	0.0092	182	c.573 others(201): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(175): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTC TTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCT CTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02486.hp2 HG03516.hp2 others(1): Show HG00735.hp1 HG02486.hp2 HG03516.hp2 HG03688.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0001c0020 a0001c0034 others(1): Show a0001c0004 a0001c0020 a0001c0034 a0003c0035	a0001c0004t0001 a0001c0020t0001 a0001c0034t0001 others(1): Show a0001c0004t0001 a0001c0020t0001 a0001c0034t0001 a0003c0035t0024	a0001c0004t0001g0078 a0001c0020t0001g0188 a0001c0034t0001g0068 others(1): Show a0001c0004t0001g0078 a0001c0020t0001g0188 a0001c0034t0001g0068 a0003c0035t0024g0005	4	218	0.0184	182	c.573 others(201): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(175): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTC TTTCTTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCT CTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0031 a0001c0026t0031	a0001c0026t0031g0104 a0001c0026t0031g0104	1	218	0.0046	182	c.573 others(201): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTTTCTT others(175): Show TTTTTCTTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTC TCTCTCTCTCTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0003 a0012c0023t0003	a0012c0023t0003g0164 a0012c0023t0003g0164	1	218	0.0046	182	c.573 others(201): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAAAGAAGAG AGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGA AAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAA AGAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138126583	C C	CCCCCGGC others(175): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0006 a0001c0017t0006	a0001c0017t0006g0122 a0001c0017t0006g0122	1	248	0.0040	182	c.45 others(193): Show c.4584_*4585insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCA GCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		1965		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138126708	C C	CGGCCGCC others(175): Show CGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCC TGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAG CAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCAT GACACCGTGAGCAAGAGGGCCCTGCAGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0008 a0004c0023t0008	a0004c0023t0008g0077 a0004c0023t0008g0077	1	248	0.0040	182	c.47 others(193): Show c.4709_*4710insGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAG GGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2090		chr9	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(175): Show GAAGGGGGAGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAG GAAGGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAA GGGGGGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGG GAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	234	0.0043	182	c.207 others(199): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC CCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCC CCTTCCTCCCATTTCCTCCCCCTTCCTCCCACTTCCTCCCCCTTCCTCCC CCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(175): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGAAGCGGGAGGA AGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGAAG TGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGG GAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	234	0.0043	182	c.207 others(199): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCTC CCCCTTCCTCCCGCTTCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTCCC ACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar

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