Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABR_chr17_998519_1184981	1052434	T T	TTCACAGG others(345): Show TTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACA GGGTCAGAGGGAGGGTTCCGGAACGGGCTGGGGGAGGGCTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGGTGGGGGAGGGCTCACAGGGTCAGAGGGA GGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTC CGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAG GGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAG GGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	337	0.0030	352	c.156 others(371): Show c.1562-1801_1562-1800insCCCCTCCCCCAGCCCCTTCCGGAACC CTCCCTCTGACCCTGTGACCCCTCCCCCAGCCCCTTCCGGAACCCTCCCT CTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACC CTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGA CCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTC CCCCACCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAG CCCGTTCCGGAACCCTCCCTCTGACCCTGTGACCCCTCCCCCAGCCCCTT CCGGAACCCTCCCTCTGACCCTGTGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1072454	A A	AGGGGACC others(345): Show AGGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCC CGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAG GGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTG CCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGA GAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGG GACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTG TGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGA CGA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0094 a0001c0001t0006g0094	1	337	0.0030	352	c.894 others(367): Show c.894+159_894+160insTCGTCCCCTTCTCTCACACACGGGCGGCAG GTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTT CTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGC GGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTC CCCTTCTCTCACACACGGGCGGGCAGGTCCCTCGTCCCCTTCTCTCACAC ACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCC CTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCT CACACACGGGCGGCAGGTCCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ACACB_chr12_109111587_109273226	109209936	C C	CACATATA others(345): Show CACATATATGTGTATATATGTGTACACACACACATATGTGTATACACACA CATATATGTGTATATATACACACATACATGCATGTGTGTATATATGTGTA TATATACACACATACATGTATGTGTGTATATATACACACATACGTATGTG TGTATATATGTGTATATATACACACATACGTATGTGTGTATATATGTGTA TATATACACATACATATGTGTGTATATATGTGTATATATGTATATATACA TATATACACACGTGTATATATACGTATATACACACACGTGTATATATGTA TATATACACATATATGTGTATATACACACGTACATATGTGTATATATGTG TAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18906.hp2 NA19030.hp2 HG02559.hp2 NA18906.hp2 NA19030.hp2	a0002 a0006 a0026 a0002 a0006 a0026	a0002c0017 a0006c0113 a0026c0066 a0002c0017 a0006c0113 a0026c0066	a0002c0017t0003 a0006c0113t0004 a0026c0066t0015 a0002c0017t0003 a0006c0113t0004 a0026c0066t0015	a0002c0017t0003g0042 a0006c0113t0004g0031 a0026c0066t0015g0115 a0002c0017t0003g0042 a0006c0113t0004g0031 a0026c0066t0015g0115	3	308	0.0097	352	c.324 others(369): Show c.3249+584_3249+585insCATATATGTGTATATATGTGTACACACA CACATATGTGTATACACACACATATATGTGTATATATACACACATACATG CATGTGTGTATATATGTGTATATATACACACATACATGTATGTGTGTATA TATACACACATACGTATGTGTGTATATATGTGTATATATACACACATACG TATGTGTGTATATATGTGTATATATACACATACATATGTGTGTATATATG TGTATATATGTATATATACATATATACACACGTGTATATATACGTATATA CACACACGTGTATATATGTATATATACACATATATGTGTATATACACACG TACATATGTGTATATATGTGTATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288415	T T	TCCGTCCC others(345): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	295	0.0034	352	c.51 others(363): Show c.5148_*5149insGGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGACACG GGACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGACGGAGCAGG GACACGGGACGGAGCAGAGACTCGGGGGACGGAGCAGGGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGG GACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3975		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289176	T T	TCTGCTCC others(345): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCATCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCATCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTG TCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	352	c.43 others(363): Show c.4387_*4388insGGACACGGGACGGAGCAGACACGGGGGACGGAGC AGAGACACGGGATGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGG GACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGAC ACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAG AGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACG GAGCAGAGACACGGGATGGAGCAGAGACACGGGGGACGGAGCAGAGACAC GGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAG AGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3214		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289243	T T	TCCCCCGT others(345): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	295	0.0034	352	c.43 others(363): Show c.4320_*4321insGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGA GACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3147		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289793	C C	CTCTGCTC others(345): Show CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	295	0.0034	352	c.37 others(363): Show c.3770_*3771insCACGGGGGACGGGGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGGGACACG GGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2597		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179134776	T T	TCCCCCAG others(345): Show TCCCCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCCCCCAGCT CCCGGCTCCAGCTCCCAGCTCCCGGGTCCAGCTCCCGGCTCCAGACCCCA GCTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGACT CCAGCTCCAGCTCCCGGCTCCAGCCCCCAGCTCCGGGCCTCTAGCCCCCA GCTCCCGGCTCCAGTCCCCAGCTCCCGGCTCCAGCTCCAGCCCCCAGCTC CCGGCTCCAGTCCCCAGCTCCCGGCTCCAGCTCCCAGCTCCCGGGTCCAG CTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTC CAG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0034 a0034	a0034c0066 a0034c0066	a0034c0066t0004 a0034c0066t0004	a0034c0066t0004g0099 a0034c0066t0004g0099	1	276	0.0036	352	c.208 others(371): Show c.2085+1132_2085+1133insCTGGAGCCGGGAGCTGGGGGCTGGAG CCGGGAGCTGGGGGCTGGAGCCGGGAGCTGGACCCGGGAGCTGGGAGCTG GAGCCGGGAGCTGGGGACTGGAGCCGGGAGCTGGGGGCTGGAGCTGGAGC CGGGAGCTGGGGACTGGAGCCGGGAGCTGGGGGCTAGAGGCCCGGAGCTG GGGGCTGGAGCCGGGAGCTGGAGCTGGAGTCGGGAGCTGGGGGCTGGAGC CGGGAGCTGGGGGCTGGAGCCGGGAGCTGGGGTCTGGAGCCGGGAGCTGG ACCCGGGAGCTGGGAGCTGGAGCCGGGAGCTGGGGGCTGGAGCCGGGAGC TGGGGGCTGGAGCCGGGAGCTGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21			chr5	TogoVar
ADGRB3_chr6_68630282_69394506	69100947	A A	AAGGAAGG others(345): Show AAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAA GAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGCAGGGAAGG AAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAGGCAGGGAGTGA GGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAGG GAAGGAAGGAAGGAGGAAGGGAAGGAAGAAAGGAAGGAGGAAGGGAAGGA AGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAAGGGAGGAAGGAAG GAAGAAGGGAGCGAGGGAGGGAAGGAAGGAGCGAGGGAGGGAAGGAAGGA GGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	120	0.0083	352	c.248 others(373): Show c.2480+24910_2480+24911insGGAAGGAGAGAGGGAAGAAGGCAG GGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGG AAGGAGGGAGGGAGGCAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAG TGAAGGAAGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAG GAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGAAGGAGGAAGGGAAGGA AGAAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGG GAAGGAAGGAAGGGAGGAAGGAAGGAAGAAGGGAGCGAGGGAGGGAAGGA AGGAGCGAGGGAGGGAAGGAAGGAGGGA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69100947	A A	AAGGAAGG others(345): Show AAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAA GAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAGGGAAGG AAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAGGCAGGGAGTGA GGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAGG GAAGGAAGGAAGGAGGAAGGGAAGGAAGAAAGGAAGGAGGAAGGGAAGGA AGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAAGGGAGGAAGGAAG GAAGAAGGGAGCGAGGGAGGGAAGGAAGGAGCGAGGGAGGGAAGGAAGGA GGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	120	0.0083	352	c.248 others(373): Show c.2480+24910_2480+24911insGGAAGGAGAGAGGGAAGAAGGCAG GGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGG AAGGAGGGAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAG TGAAGGAAGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAG GAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGAAGGAGGAAGGGAAGGA AGAAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGG GAAGGAAGGAAGGGAGGAAGGAAGGAAGAAGGGAGCGAGGGAGGGAAGGA AGGAGCGAGGGAGGGAAGGAAGGAGGGA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(345): Show TTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCC CTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCT TCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTC CCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0013 a0006c0007t0013	a0006c0007t0013g0213 a0006c0007t0013g0213	1	262	0.0038	352	c.106 others(371): Show c.1061+3845_1061+3846insGGGAAAAGAAGGAAGGGAAGGGGAGG GGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGG GAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAA GGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGA GGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGA AAGGAAGGAAGGGAGGGAGGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AEN_chr15_88616340_88637281	88617088	T T	TTCATTTA others(345): Show TTCATTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	440	0.0023	352	c.-43 others(363): Show c.-4359_-4358insTCATTTATTTATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding		4251		chr15	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(345): Show TACGTATACGTATACACACATATACACGTATACGTATACACACATATACA CGTATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTA CACACATATACACGTATATACGTATACGTGTACACACATATATATACACG TATATATACGTATACGTGTACACACACACACGTATATATACGTATACGTG TACACACACACGTATATATACGTATACGTGTACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	169	0.0059	352	c.48- others(369): Show c.48-70722_48-70721insGTATACGTATACACACATATACACGTAT ACGTATACACACATATACACGTATACGTATACGTGTACACACATATACAC GTATATACGTATACGTGTACACACATATACACGTATATACGTATACGTGT ACACACATATATATACACGTATATATACGTATACGTGTACACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACGTATATATACGTATACGTGTACACACACACGTATATATACGT ATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(345): Show TACGTATACGTATACACACATATACACGTATACGTATACACACATATACA CGTATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTA CACACATATACACGTATATACGTATACGTGTACACACATATATATACACG TATATATACGTATACGTGTACACACACACACGTATATATACGTATACGTG TACACACACACGTATATATACGTATACGTGTACACACACGTATATATACG TATACGTGTACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0037 a0001c0001t0037g0037	1	169	0.0059	352	c.48- others(369): Show c.48-70722_48-70721insGTATACGTATACACACATATACACGTAT ACGTATACACACATATACACGTATACGTATACGTGTACACACATATACAC GTATATACGTATACGTGTACACACATATACACGTATATACGTATACGTGT ACACACATATATATACACGTATATATACGTATACGTGTACACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACGTATATATACGTATACGTGTACACACACGTATATATACGTAT ACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTAT ATACGTATACGTGTACACACACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	99820748	A A	AGGTTTTT others(345): Show AGGTTTTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGT TCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCA CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	100	0.0100	352	c.921 others(371): Show c.921+16728_921+16729insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATTTAAAAACC	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	8/24			chr2	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(345): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCT GCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGC CCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCAC TTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0013 a0001c0001t0029g0013	1	268	0.0037	352	c.-37 others(363): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCA CCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCAC CTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTC CACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(345): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGGGGGGAGGAGGAG GGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAGGG GGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGG AGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGG GGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0067 a0001c0001t0048g0067	1	301	0.0033	352	c.125 others(373): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCCCCCCCCCTCC CCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCC CCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCC TCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCA CCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(345): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02622.hp2 others(3): Show HG02109.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0002t0001g0020 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0185	6	191	0.0314	352	c.132 others(368): Show c.1327-393_1327-42dupAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATA GAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATT CTTCCTTCTTCATAGAAGGAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
AMELY_chrY_6860918_6916752	6870313	T T	TAAAGTTG others(345): Show TAAAGTTGGAGACCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	131	0.0076	352	c.55- others(365): Show c.55-261_55-260insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCAGGTCTCCAACTTT	AMELY	ENSG00000099721.16	transcript	ENST00000651267.2	protein_coding	3/6			chrY	TogoVar
ANO7_chr2_241183677_241230976	241187727	C C	CAGGAGGA others(345): Show CAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGA AGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGA AGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGG GAGTGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGG GGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGAAGGAAGAGGAGAGG GAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGAGGGGGAGTGGGGAG AAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAAC GAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0007 a0006c0006t0001g0007	1	396	0.0025	352	c.-10 others(363): Show c.-1047_-1046insAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGG AAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAG TGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGA GAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAG AAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAG AAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGG AGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGG GGGAGGGGGAGAAACGAT	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding		949		chr2	TogoVar
AP3D1_chr19_2095988_2156566	2128983	C C	CCCCACAG others(345): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCT CCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGC ACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAG CCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCC CACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGA CACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCC GTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGC CCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	406	0.0025	352	c.806 others(367): Show c.806+106_806+107insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCG GGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCA CGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGT GGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCC GGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128990	C C	CGCTCCGA others(345): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCT CCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC ACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18964.hp1 HG00423.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0368 a0001c0001t0003g0377 a0001c0001t0003g0368 a0001c0001t0003g0377	2	406	0.0049	352	c.806 others(366): Show c.806+99_806+100insTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGT GGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCG GCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGG TGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGG AGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGG CGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTC CACGGGGTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
APBB2_chr4_40805027_41219542	41009229	G G	GAAAAAAA others(345): Show GAAAAAAACCCTAACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTGAAAATACAAAAAAA AAATTAGCCAGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0002 a0002c0001t0029g0002	1	192	0.0052	352	c.835 others(369): Show c.835+4353_835+4354insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGAC TGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCTGGCTAATTTTTTTTTTGTATTTTCAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTAGTTAGGGTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(345): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTATATATAATATATATTATATATATAATTGTATATATAATATATATTA TATATATAATTGTATATATAATATATATTATATATATAATTGTATATATA ATATATATTATATATATAATTATATATATAATATATATTATATATATAAT TGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18999.hp2 HG02027.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0125 a0001c0001t0006g0183 a0001c0001t0006g0125 a0001c0001t0006g0183	2	384	0.0052	352	c.-12 others(363): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTATATATAATATATATTATATATATAATTGTAT ATATAATATATATTATATATATAATTGTATATATAATATATATTATATAT ATAATTGTATATATAATATATATTATATATATAATTATATATATAATATA TATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
APMAP_chr20_24957925_24997751	24994225	C C	CAAGTATC others(345): Show CAAGTATCCTTGCTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0072 a0001c0003t0005g0072	1	290	0.0035	352	c.-15 others(363): Show c.-1538_-1537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTCAGCAAGGATACTT	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding		1475		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687311	G G	GCACTGGC others(345): Show GCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGC ACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTG ACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGG CGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACC CCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACT GGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTC CCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	246	0.0041	352	c.-17 others(363): Show c.-1708_-1707insTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAG TGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTG CTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCG TGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGG AAGTGCTCGCCGCCAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1466		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687637	G G	GGCGAGCA others(345): Show GGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCA CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACA CTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGA CCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTT ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	246	0.0041	352	c.-20 others(363): Show c.-2034_-2033insTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGT GTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGT GGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1792		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687762	T T	TGTGACCA others(345): Show TGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACA CACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGT GACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA GTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	246	0.0041	352	c.-21 others(363): Show c.-2159_-2158insGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCA CGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTG TGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCT AGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1917		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1840179	A A	ATGGGGAC others(345): Show ATGGGGACTGTCTGGTGTGGAAGCTGTCCGATATGGGGACTGTCTGGTGT GGAAGCTGTCTGGTGTGGGGACTGTCCGGTGTGGAATCTGTCCGGTGTGG GGACTGTCCTGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAA GCTGTCCGATATGGGGACTGTCTGGTGTGGAAGCTGTCCGATATGGGGAC TGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTG TCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCCGGTGTGGGTACTGTC CTGTGTGGAAGCTGTCCGGTGTGGGGACTGTCCGGTGTGGAATCTGTCCG GTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0014 a0014	a0014c0107 a0014c0107	a0014c0107t0004 a0014c0107t0004	a0014c0107t0004g0135 a0014c0107t0004g0135	1	363	0.0028	352	c.-47 others(369): Show c.-47-3162_-47-2811dupTGGTGTGGAAGCTGTCCGATATGGGGAC TGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGTGTGGAATCTG TCCGGTGTGGGGACTGTCCTGTGTGGAAGCTGTCTGGTGTGGGGACTGTC TGGTGTGGAAGCTGTCCGATATGGGGACTGTCTGGTGTGGAAGCTGTCCG ATATGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGT GTGGAAGCTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCCGGTGT GGGTACTGTCCTGTGTGGAAGCTGTCCGGTGTGGGGACTGTCCGGTGTGG AATCTGTCCGGTGTGGGGACTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1840351	T T	TGGTGTGG others(345): Show TGGTGTGGGGACCGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTG GTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGT GTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGTCTGTCTGGTGT GGAAGATGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGG GGACTGTCTGGTGTGGGGACTGTCTGCTGTGGAAGCTGTCTGCTGTGGAA GCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTCTCTGGTGTGGGGAC TGTCTTGTGTGGGGACTGTCCGGTGTGGGGACTGTCTGGTGTGGGGACTG TCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0024 a0024	a0024c0094 a0024c0094	a0024c0094t0016 a0024c0094t0016	a0024c0094t0016g0103 a0024c0094t0016g0103	1	363	0.0028	352	c.-47 others(369): Show c.-47-2995_-47-2994insGGACCGTCTGGTGTGGAAGCTGTCTGGT GTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGT GGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGG GGTCTGTCTGGTGTGGAAGATGTCTGGTGTGGGGACTGTCTGGTGTGGGG ACTGTCCGGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGCTGTGGAAGC TGTCTGCTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTC TCTGGTGTGGGGACTGTCTTGTGTGGGGACTGTCCGGTGTGGGGACTGTC TGGTGTGGGGACTGTCCGGTGTGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850026	A A	ATGGACAC others(345): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGA GGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCC ACG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0075 a0002c0075	a0002c0075t0005 a0002c0075t0005	a0002c0075t0005g0303 a0002c0075t0005g0303	1	363	0.0028	352	c.37+ others(367): Show c.37+6633_37+6634insATGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAG AGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCA AATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850026	A A	ATGGACAC others(345): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGA GGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCC ACG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0078 a0001c0005t0001g0078	1	363	0.0028	352	c.37+ others(367): Show c.37+6707_37+6708insCGTGGGCCGGCTGCATGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGG CCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGT GGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACAC AGAGGGCAAATGCTGAGGAGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850026	A A	ATGGACAC others(345): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGA GGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCC ACG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0002 a0002c0030t0002	a0002c0030t0002g0077 a0002c0030t0002g0077	1	363	0.0028	352	c.37+ others(367): Show c.37+6677_37+6678insGTGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850069	C C	CATGGACA others(345): Show CATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCTGCGTGGA CACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGA GGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAA ATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTG AGGAGGGTGTGGGGCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGG GCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGTGTGG GGCGGCCACGTGGACACAGACAGCAAATGCTGAGGAGGGCGTGGGGCGAC CAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0251 a0001c0004t0002g0251	1	363	0.0028	352	c.37+ others(367): Show c.37+6633_37+6634insATGGACACAGAGGGCAAATGCTGAGGAGGG TGTGGGGCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGG ACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCTGCGTGGACACAG AGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCA AATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGACAGCAAATGCT GAGGAGGGCGTGGGGCGACCAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(345): Show TGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACA CAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACACAGAGG GCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACACAGAGGGCAAAT GCTGAGGAGGGCATTGGCTAGCCGCAGGGACACAGAGGGCAAATGCTGAG GAGGGCATTGGCTAGCCGCAGGGACACAGAGGGCAAATGCTGAGGAGGGC ATTGGCTAGCCGCAGGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGC TAGCCGCAGGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCG CAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0136 a0003c0136	a0003c0136t0008 a0003c0136t0008	a0003c0136t0008g0300 a0003c0136t0008g0300	1	363	0.0028	352	c.37+ others(367): Show c.37+6752_37+6753insATTGGCTAGCCGCAGGGACACAGAGGGCAA ATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACACAGAGGGCAAATGCTG AGGAGGGCATTGGCTAGCCGCAGGGACACAGAGGGCAAATGCTGAGGAGG GCATTGGCTAGCCGCAGGGACACAGAGGGCAAATGCTGAGGAGGGCATTG GCTAGCCGCAGGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGC CGCAGGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGG GACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACACA GAGGGCAAATGCTGAGGAGGGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(345): Show TGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACA CAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAAT GCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAG GAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGC GTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGG CGGCCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCG CAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0295 a0001c0018t0008g0295	1	363	0.0028	352	c.37+ others(367): Show c.37+6757_37+6758insCCGGCTGCATGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGG CTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCAT GGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACAC AGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACACAGAGGG CAAATGCTGAGGAGGGCGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850188	C C	CGTGGGCC others(345): Show CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGACAGCA AATGCTGAGGAGGGCGTGGGGCGACCATGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAG GGT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18959.hp2 NA18963.hp2 NA18949.hp1 NA18959.hp2 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0031 a0001c0001 a0002c0031	a0001c0001t0012 a0002c0031t0001 a0001c0001t0012 a0002c0031t0001	a0001c0001t0012g0207 a0002c0031t0001g0188 a0002c0031t0001g0273 a0001c0001t0012g0207 a0002c0031t0001g0188 a0002c0031t0001g0273	3	363	0.0083	352	c.37+ others(367): Show c.37+6757_37+6758insCCGGCTGCATGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGG CTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGT GGACACAGACAGCAAATGCTGAGGAGGGCGTGGGGCGACCATGTGGACAC AGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGG CAAATGCTGAGGAGGGTGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASIC3_chr7_151043531_151057754	151043708	T T	TGGGGGGT others(345): Show TGGGGGGTCAGAGGCAGGAGGAGGGTGCACAGTGCGGGGTGGGGGGTCAG AGGCAGGAGGAGGGTGCACAGTGCGGGGTGGGGGGTCAGAGACAGGACTA GGGTGCACAGTGCGGGGTGGAGGGTCAGAGACAGGACTAGGGTGCACAGT GTGGGGTGGAGGGTCAGAGACAGGACTAGGGTGCACAGTGCGGGGTGGAG GGTCAGAGACAGGACTAGGGTGCACAGTGTGGGGTGGAGGGTCAGAGGCA GGACTAGGGTGCACAGTGCAAGGTGGAGGGTCAGAGGCAGGACGAGCGTA CACAGTGCGGGGTAGAGGGTCAGAGGCAGGACGAGGGTGCACAGTGCGGG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	352	c.-51 others(363): Show c.-5178_-5177insGGGGGGTCAGAGGCAGGAGGAGGGTGCACAGTGC GGGGTGGGGGGTCAGAGGCAGGAGGAGGGTGCACAGTGCGGGGTGGGGGG TCAGAGACAGGACTAGGGTGCACAGTGCGGGGTGGAGGGTCAGAGACAGG ACTAGGGTGCACAGTGTGGGGTGGAGGGTCAGAGACAGGACTAGGGTGCA CAGTGCGGGGTGGAGGGTCAGAGACAGGACTAGGGTGCACAGTGTGGGGT GGAGGGTCAGAGGCAGGACTAGGGTGCACAGTGCAAGGTGGAGGGTCAGA GGCAGGACGAGCGTACACAGTGCGGGGTAGAGGGTCAGAGGCAGGACGAG GGTGCACAGTGCGGGGTG	ASIC3	ENSG00000213199.8	transcript	ENST00000349064.10	protein_coding		4822		chr7	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(345): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAAGGGGGCTGGCCGGGCAG AGTGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAA CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCC TCCCAGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGG GCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGG CGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0056 a0001c0021t0006g0056	1	102	0.0098	352	c.204 others(373): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGTTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCACTCTGCCCGGCCAGCCCCCTTGT CCGGGAGGGAGGTGGGGGGGTCAGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(345): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAG TGTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC TTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCGCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGTGGCTGGCCG GGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGG GCGAGGGGCTGACCCCCCCACCCCCCTCCCGGACGGGGTGGCTGGCCGGG CGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	102	0.0098	352	c.204 others(373): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGGGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCC CCCACCCGGCCAGCCGCCCTGTCCGGGAAGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGAGCCACACTGCCCGGCCAGCCGCCCTGT CCGGGAGGGAGGTGGGGGGGTCAGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(345): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAG TGTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC TTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCGCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGTGGCTGGCCG GGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGG GCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGG CGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG02109.hp2 others(3): Show HG00735.hp2 HG01496.hp1 HG02109.hp2 HG03041.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0001t0006 a0001c0002t0004 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0004 a0001c0003t0002 a0001c0005t0005 a0001c0007t0001	a0001c0001t0002g0040 a0001c0001t0006g0014 a0001c0002t0004g0047 others(3): Show a0001c0001t0002g0040 a0001c0001t0006g0014 a0001c0002t0004g0047 a0001c0003t0002g0044 a0001c0005t0005g0048 a0001c0007t0001g0010	6	102	0.0588	352	c.204 others(373): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGCCC CCCACCCGGCCAGCCGCCCTGTCCGGGAAGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGAGCCACACTGCCCGGCCAGCCGCCCTGT CCGGGAGGGAGGTGGGGGGGTCAGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ATP10A_chr15_25673712_25868327	25758393	A A	ACTCATTC others(345): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	300	0.0033	352	c.655 others(371): Show c.655-22253_655-22252insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG GGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(345): Show CCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	300	0.0033	352	c.654 others(371): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGG TGGAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112840358	G G	GTGCCCTC others(345): Show GTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGACTCAGC CTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGC CCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCC CCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTC CAGACTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCAC TCTCCCGTGCCCTCCAGACTCAGCCTCCCCACTCTCCCGTGCCCTCCAGC CTCAGCCTCCCCACTCTCCCGTGCCCTCCAGACTCAGCCTCCCCACTCTC CCA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0201 a0001c0002t0059g0201	1	254	0.0039	352	c.170 others(371): Show c.1706-1914_1706-1913insCTCCAGCCTCAGCCTCCCCACTCTCC CGTGCCCTCCAGACTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAG CCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTG CCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTC CCCACTCTCCCGTGCCCTCCAGACTCAGCCTCCCCACTCTCCCGTGCCCT CCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGACTCAGCCTCCCCA CTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAG ACTCAGCCTCCCCACTCTCCCATGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50085958	T T	TATAAATA others(345): Show TATAAATATATATGATATATATCATATATATTTATATATGATATATATCA TATATATTTATATATGATATATATCATATATATTTATATATGATATATAT CATATATATTTATATATGATATATATCATATATATTTATATATGATATAT ATCATATATATTTATATATGATATATATCATATATATTTATATATGATAT ATATCATATATATTTATATATGATATATATCATATATATTTATATATGAT ATATATCATATATATTTATATATGATATATATCATATTTATATATGATAT ATATCATATATATTTATATATGATATATATCATATTTATATATGATATAT ATC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0246 a0003c0003t0003g0246	1	254	0.0039	352	c.29- others(369): Show c.29-11774_29-11773insGATATATATCATATATAAATATGATATA TATCATATATAAATATATATGATATATATCATATATAAATATGATATATA TCATATATAAATATATATGATATATATCATATATAAATATATATGATATA TATCATATATAAATATATATGATATATATCATATATAAATATATATGATA TATATCATATATAAATATATATGATATATATCATATATAAATATATATGA TATATATCATATATAAATATATATGATATATATCATATATAAATATATAT GATATATATCATATATAAATATATATGATATATATCATATATAAATATAT ATGATATATATCATATATATTTAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(345): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT ATC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0224 a0002c0001t0001g0224	1	356	0.0028	352	c.249 others(371): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(345): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT ATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02523.hp2 HG02717.hp1 others(2): Show HG02257.hp1 HG02523.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0220 a0002c0001t0001g0226 a0002c0001t0001g0230 others(2): Show a0002c0001t0001g0220 a0002c0001t0001g0226 a0002c0001t0001g0230 a0002c0001t0001g0244 a0002c0001t0001g0259	5	356	0.0140	352	c.249 others(371): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
B4GALNT3_chr12_454939_568509	512269	T T	TCCACCTT others(345): Show TCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTC CACCTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCC ACCTTCCACCTTCTTCCACCTTTGACCTTCCACCTTCCACCTTCCGCCTT CCGCATTCCGCCTTCCATCTTCCTTCCACCTTCCACCTTCCGCCTTCCAC CTTCTACCTTCTGCCTTCCACCTTCGACCTTCTTCCACCTTCAACCTTCC ACCTTCGACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCGAGCTT CCACCTTCCACCTTCCACCTTCCGCCTTCTGCCTTCCACCTTCCGCCTTC CAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18954.hp2 NA18612.hp1 NA18954.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0003 a0001c0001t0001 a0005c0006t0003	a0001c0001t0001g0015 a0005c0006t0003g0238 a0001c0001t0001g0015 a0005c0006t0003g0238	2	394	0.0051	352	c.170 others(371): Show c.170-22896_170-22895insCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCCGC CTTCGACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTTGACCT TCCACCTTCCACCTTCCGCCTTCCGCATTCCGCCTTCCATCTTCCTTCCA CCTTCCACCTTCCGCCTTCCACCTTCTACCTTCTGCCTTCCACCTTCGAC CTTCTTCCACCTTCAACCTTCCACCTTCGACCTTCCACCTTCCACCTTCC ACCTTCTTCCACCTTCGAGCTTCCACCTTCCACCTTCCACCTTCCGCCTT CTGCCTTCCACCTTCCGCCTTCCACC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(345): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTG CTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCT GTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGT TGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTG CGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCG TTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	376	0.0027	352	c.131 others(367): Show c.131-939_131-938insGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGC TGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTG TTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTT GCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGC GTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGT TTTTCTGCTGTTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(345): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCT GCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	268	0.0037	352	c.328 others(365): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar

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