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
YBEY_chr21_46281342_46302751	46294082	G G	GTGCCCGG others(289): Show GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	310	0.0032	296	c.340 others(313): Show c.340-2063_340-2062insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294110	A A	ACAAGTTA others(289): Show ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCAGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCACGGGACTCAGTGGAGTCAGCCACG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	271	0.0037	296	c.340 others(313): Show c.340-2045_340-2044insGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCAGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCACGGGACTCAGTGG AGTCAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294184	A A	ACAAGTTA others(289): Show ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0209 a0003c0003t0004g0209	1	259	0.0039	296	c.340 others(313): Show c.340-1933_340-1932insATGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294192	A A	AACTCTAG others(289): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	2	299	0.0067	296	c.340 others(313): Show c.340-1933_340-1932insATGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294192	A A	AACTCTAG others(289): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	298	0.0034	296	c.340 others(313): Show c.340-1933_340-1932insATGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294266	G G	GACTCTAG others(289): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	257	0.0039	296	c.340 others(313): Show c.340-1859_340-1858insATGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294266	G G	GACTCTAG others(289): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT GAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	257	0.0039	296	c.340 others(313): Show c.340-1859_340-1858insATGCCCGGGACTGAGTGGGGACAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294488	G G	GACTCTAG others(289): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGTGGTTAGCTTGGCCTGTGCCCGGGACTGA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0354 a0001c0001t0002g0354	1	276	0.0036	296	c.340 others(313): Show c.340-1619_340-1618insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCTTGGC CTGTGCCCGGGACTGAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294538	C C	CAGTGGAG others(289): Show CAGTGGAGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0161 a0001c0001t0003g0162	2	390	0.0051	296	c.340 others(313): Show c.340-1617_340-1616insACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGAAGTGAGTGGAG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294620	A A	ACAGCCAC others(289): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	309	0.0032	296	c.340 others(313): Show c.340-1527_340-1526insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294674	G G	GTGCCCCG others(289): Show GTGCCCCGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGTGGTTAGCTTGGCCTGTGCCCGGGACTGAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCGGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0161 a0001c0001t0003g0162	2	323	0.0062	296	c.340 others(313): Show c.340-1483_340-1482insCGGACTCAGTGGGGACAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGTGGTTAGCTTGGCCTGTGCCCGGGA CTGAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGT GAGTGGAGTCGGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGAAT others(289): Show AGTGGAATCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	274	0.0036	296	c.340 others(313): Show c.340-1470_340-1469insATCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA TGCCCGGGACTCGGTGGA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGGGA others(289): Show AGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	274	0.0036	296	c.340 others(313): Show c.340-1471_340-1470insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCGGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(289): Show GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGAAGTGAGTGGAGTCGGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	198	0.0051	296	c.340 others(313): Show c.340-1461_340-1460insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCGGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(289): Show GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02738.hp2 NA19007.hp1 others(1): Show HG01258.hp1 HG02738.hp2 NA19007.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0112 a0001c0001t0001g0117 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0124	4	201	0.0199	296	c.340 others(313): Show c.340-1461_340-1460insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(289): Show GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	198	0.0051	296	c.340 others(313): Show c.340-1461_340-1460insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(289): Show GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	198	0.0051	296	c.340 others(313): Show c.340-1461_340-1460insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZC3H18_chr16_88565403_88636964	88615028	A A	AGGCTGCC others(289): Show AGGCTGCCCCCACCTCCTCCGTTCCCTCTGCCTGGACGGGCTGCCCCCAC CTGCTCCGTTCCCTCTGCCTGGACGGGCTGCCCCCACCTGCTCCGTTCCC TCTGCCTGGACGGGCTGCCCCCACCTGCTCCGTTCCCTCTGCCTGGACGG GCTGCCCCCACCTGCTCCGTTCCCTCTGCCTGGACGGGCTGCCCCCACCT GCTCCGTTCCCTCTGCCTGGACGGGCTGCCCCCACCTGCTCCGTTCCCTC TGCCTGGACGGGCTGCCCCCACCTGCTCCGTTCCCTCTGCCTGGACG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	252	0.0040	296	c.147 others(315): Show c.1475+3506_1475+3507insCCTCCGTTCCCTCTGCCTGGACGGGC TGCCCCCACCTGCTCCGTTCCCTCTGCCTGGACGGGCTGCCCCCACCTGC TCCGTTCCCTCTGCCTGGACGGGCTGCCCCCACCTGCTCCGTTCCCTCTG CCTGGACGGGCTGCCCCCACCTGCTCCGTTCCCTCTGCCTGGACGGGCTG CCCCCACCTGCTCCGTTCCCTCTGCCTGGACGGGCTGCCCCCACCTGCTC CGTTCCCTCTGCCTGGACGGGCTGCCCCCACCTGCTCCGTTCCCTCTGCC TGGACGGGCTGCCCCCACCT	ZC3H18	ENSG00000158545.16	transcript	ENST00000301011.10	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF66_chr19_20771304_20814995	20801896	T T	TAAGATTA others(289): Show TAAGATTACATTTCCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0047 a0014c0013t0047	a0014c0013t0047g0157 a0014c0013t0047g0157	1	381	0.0026	296	c.227 others(313): Show c.227-3918_227-3917insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGATTACATTTC	ZNF66	ENSG00000160229.13	transcript	ENST00000344519.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF778_chr16_89212703_89242141	89215276	G G	GAACATGA others(289): Show GAACATGAAAAGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTA GCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0005 a0007c0008t0005	a0007c0008t0005g0003 a0007c0008t0005g0003	1	376	0.0027	296	c.-27 others(307): Show c.-2766_-2765insAACATGAAAAGATGGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAA	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding		2426		chr16	TogoVar
AAGAB_chr15_67195667_67259661	67208153	G G	GAGAAAGG others(290): Show GAGAAAGGGGATATACTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCG CCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CAAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCT TCGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG00733.hp2 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0022 a0001c0001t0009g0022	2	374	0.0053	297	c.715 others(312): Show c.715+408_715+409insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCACTCTTTCGCCGAAGCTGGACTGCAGTGGCGCTATCCCGGCTCAC TGCAAGCTCCGCCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTA TTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGTATATCCCCTTTCT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	7/9			chr15	TogoVar
ABCC4_chr13_95014835_95306451	95126816	C C	CATATATA others(290): Show CATATATATTTATATATATTTAAGTACACCAAATATATATATTTATATAT ATTTAAGTACACAAAATATATATATTTATATATATTTAAGTACACCAAAT ATATATATTTATATATATTTAAGTACACCAAATATATATATTTATATATA TTTAAGTACACCAAATATATATATTTATATATATTTAAGTACACCAAATA TATATATTTATATATATTTAAGTACACCAAATATATATATTTATATATAT TTAAGTACACCAAATATATATATTTATATATATTTAAGTACACCAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01255.hp1 HG02735.hp1 others(2): Show HG01074.hp2 HG01255.hp1 HG02735.hp1 HG03239.hp2 HG04115.hp1	a0002 a0006 a0009 a0002 a0006 a0009	a0002c0063 a0006c0027 a0006c0057 others(1): Show a0002c0063 a0006c0027 a0006c0057 a0009c0037	a0002c0063t0001 a0006c0027t0002 a0006c0057t0001 others(1): Show a0002c0063t0001 a0006c0027t0002 a0006c0057t0001 a0009c0037t0002	a0002c0063t0001g0070 a0006c0027t0002g0137 a0006c0027t0002g0198 others(2): Show a0002c0063t0001g0070 a0006c0027t0002g0137 a0006c0027t0002g0198 a0006c0057t0001g0087 a0009c0037t0002g0110	5	141	0.0355	297	c.245 others(318): Show c.2456-10816_2456-10815insATTTGGTGTACTTAAATATATATA AATATATATATTTGGTGTACTTAAATATATATAAATATATATATTTGGTG TACTTAAATATATATAAATATATATATTTGGTGTACTTAAATATATATAA ATATATATATTTGGTGTACTTAAATATATATAAATATATATATTTGGTGT ACTTAAATATATATAAATATATATATTTGGTGTACTTAAATATATATAAA TATATATATTTTGTGTACTTAAATATATATAAATATATATATTTGGTGTA CTTAAATATATATAAATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABR_chr17_998519_1184981	1065362	C C	CGTGAACT others(290): Show CGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTGAACT GAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGAGGGCT ATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATG TTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCATGTTCCTCTAGA CACTGTTGTTATGTGAAGTGAGGGCTATGCATGTTCCTCTAGACACTGTT GTTATGTGAACTGAGGGCTATACATGTTCCTCTAGACACTGCTATTAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	328	0.0030	297	c.118 others(316): Show c.1182+1714_1182+1715insATAATAGCAGTGTCTAGAGGAACATG TATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCC CTCACTTCACATAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGTT CACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAA CAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTC TGGAGGAACATGCATAGCCCTCAGTTCACGTAACAGCAGTGCTAGAGGAA CATGCATAGCCCTCAGTTCAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173181	A A	ACACGTCA others(290): Show ACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCC ACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACAT CACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCAC CTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGC CCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCC AACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0096 a0001c0001t0014g0096	1	333	0.0030	297	c.61+ others(312): Show c.61+6485_61+6486insGGGGGGGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGT GTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGG TGGACTGAGGTGACGTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(290): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCC AACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0061 a0005c0015t0061	a0005c0015t0061g0213 a0005c0015t0061g0213	1	278	0.0036	297	c.61+ others(312): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGTGGGCTGAGG TGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTG ATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTG GGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289848	T T	TCTCTGCT others(290): Show TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	247	0.0040	297	c.37 others(308): Show c.3715_*3716insGGCAGAGACACGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGG GGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGACGGAGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2542		chr1	TogoVar
ADAMTS3_chr4_72275969_72574221	72456152	A A	ATATATAG others(290): Show ATATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATA TATACTGTATATACTATATATATTTTATATATAGTATATATACTGTATAT ACTATATATATTTTATATATATTTTATATATAGTATGTACTCTATATATT TTATATATAGTATGTACTCTATATATTTTATATATAGTATGTACTCTATA TATTTTATATATAGTATGTACTCTATATATTTTATATATAGTATGTACTA TATATTTTATATATAGTATGTACTATATATTTTATATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	1	155	0.0065	297	c.505 others(316): Show c.505-41182_505-41181insGTACATACTATATATAAAATATATAG TACATACTATATATAAAATATATAGTACATACTATATATAAAATATATAG AGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAATAT ATAGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAA ATATATATAAAATATATATAGTATATACAGTATATATACTATATATAAAA TATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTAT ATACAGTATATATACTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADCY1_chr7_45569368_45728116	45611016	T T	TGTGGAGG others(290): Show TGTGGAGGTGATGCAAAGTTGAGAAGTGATGATGGAAGTGAGGAGGTGAT AGTGGAGGTGTGGGGGTGATGGTGGAGGTGGGGAGGTGATGGTGGAGGTG TGGAGGTGATAGTGGAGGTGCGGAGGTGATATTGGAGGTGTGGAGGTGAT GGTGGAGGTGGGAAGGTGATGGAGGTGGGGAGGTGATAATGGAAGTATGG AGGTGATTTTGGAGGTGAGGAGGTGATAATGGAGGTATGGAGGTGATGAT GGAGGTGCGGGGGGTGATAGTGGAAGCATGGAGGTGAATGGTGGAGGC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	263	0.0038	297	c.908 others(312): Show c.908+531_908+532insCAAAGTTGAGAAGTGATGATGGAAGTGAGG AGGTGATAGTGGAGGTGTGGGGGTGATGGTGGAGGTGGGGAGGTGATGGT GGAGGTGTGGAGGTGATAGTGGAGGTGCGGAGGTGATATTGGAGGTGTGG AGGTGATGGTGGAGGTGGGAAGGTGATGGAGGTGGGGAGGTGATAATGGA AGTATGGAGGTGATTTTGGAGGTGAGGAGGTGATAATGGAGGTATGGAGG TGATGATGGAGGTGCGGGGGGTGATAGTGGAAGCATGGAGGTGAATGGTG GAGGCGTGGAGGTGATG	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL4_chr1_48527854_50028954	49624954	T T	TTTTTTTT others(290): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGACTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCTGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0061 a0002c0003t0007g0061	1	104	0.0096	297	c.282 others(316): Show c.282+72358_282+72359insGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(290): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTGTATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATATACTATATATATATTCTGTATATAGAATAT ATATAGTATATATATTCTGTATATAGAATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG02723.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0198 a0001c0001t0001g0019 a0001c0001t0001g0198	2	58	0.0345	297	c.409 others(316): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATATAG TATATATATTCTGTATACAGAATATATATACTATATATATTCTGTATATA GAATATATATACTATATATATTCTGTATATAGAATATATATACTATATAT ATTCTGTATATAGAATATATATACTATATATATTCTGTATACAGAATATA TATACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGT ATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(290): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0151 a0002c0001t0001g0151	1	207	0.0048	297	c.494 others(312): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ASMT_chrX_1610059_1648081	1626881	G G	GAGCCAGG others(290): Show GAGCCAGGCATGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGTTG AGGCAGGAGAATCGCTTGAACCGAGGAGGTGGAGATTGCAGTGAGCCAAG ATCGCGCCATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCAT AAAATAAAATAAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGAGAGGCCGAGGCAGGTGGATCACCTGAGGTCACGAGTTCGAGACCAG CCTGACCAACATAGTGAAACCCCATCTCTACTAAAAAATACAAAAATT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0076 a0006c0011t0002g0076	1	221	0.0045	297	c.375 others(312): Show c.375-652_375-651insTGGTGGCTCACGCCTGTAATCCCAGCACTT TGAGAGGCCGAGGCAGGTGGATCACCTGAGGTCACGAGTTCGAGACCAGC CTGACCAACATAGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGC CAGGCATGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGC AGGAGAATCGCTTGAACCGAGGAGGTGGAGATTGCAGTGAGCCAAGATCG CGCCATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAA TAAAATAAGGCCAGGTG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1626985	C C	CGCCATTG others(290): Show CGCCATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAA TAAAATAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTG ACCAACATGATGAAACCCCATCTGTACTAAAAAGTACAAAAATTAGCCAG GCACGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGG AAAATCGCTTGAACCCGGGAGGCGGAGATTACAGTGAGCCAAGATCGT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0149 a0001c0003t0002g0149	1	221	0.0045	297	c.375 others(312): Show c.375-679_375-383dupGTCTCATAAAATAAAATAAGGCCAGGTGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGAT CACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGATGAAACCCC ATCTGTACTAAAAAGTACAAAAATTAGCCAGGCACGGTGGCAGGTGCCTG TAATCCCAGCTACTCGGGAGGCTGAGGTAGGAAAATCGCTTGAACCCGGG AGGCGGAGATTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGG CGACACAGCGAGACTCC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(290): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGAGAGGGA GGGGGAGAGGGAGGGAGGGAGAGAGGGAGAGGGAGAGGGAGGGGGAGAGA GGGAGGGAGGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGG GAGAGAGAGGGAGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGGGAGAGA GGGAGGGTGGGGGAGGGAGGGAGGGGGAGGGAGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0333 a0001c0001t0005g0333	1	5	0.2000	297	c.479 others(314): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCTCCCCCTC CCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCC TCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTC CCTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTC TCCCTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTC TCTCCCCCTCCCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCC CTCCCTCCCTCCCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(290): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCACCCCCTA CCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0135 a0001c0006t0001g0135	1	5	0.2000	297	c.39+ others(314): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(290): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCCACCCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCC CCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTA CCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0037 a0002c0025t0002g0037	1	5	0.2000	297	c.39+ others(314): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCCACCCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(290): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTA CCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0003 a0001c0011t0001g0003	1	5	0.2000	297	c.39+ others(314): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(290): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCCACCCCCC ACATCCCCCACCTCCCCCCCACCCCCCACCTCCCCCACCTCCCCCACCTC CCCCCACCCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCACCCCCAC CCACCTCCCCCCACCCCCCCACCCCCCCACCTCCCCCCCACCCCCCACCT CCCCCCACCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCA CCTCCCCCCACCCCCCACCTCCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0216 a0001c0040t0001g0216	1	5	0.2000	297	c.39+ others(314): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCC ACCCCCCACATCCCCCACCTCCCCCCCACCCCCCACCTCCCCCACCTCCC CCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCA CCCCCACCCACCTCCCCCCACCCCCCCACCCCCCCACCTCCCCCCCACCC CCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCA CCCCCCACCTCCCCCCACCCCCCACCTCCCCCCCACCCCCCACCTCCCCC CACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(290): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCC CCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTA CCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG04228.hp1 NA19065.hp1 HG02155.hp1 HG04228.hp1 NA19065.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0003 a0003c0007 a0001c0005 a0002c0003 a0003c0007	a0001c0005t0065 a0002c0003t0002 a0003c0007t0005 a0001c0005t0065 a0002c0003t0002 a0003c0007t0005	a0001c0005t0065g0173 a0002c0003t0002g0120 a0003c0007t0005g0205 a0001c0005t0065g0173 a0002c0003t0002g0120 a0003c0007t0005g0205	3	7	0.4286	297	c.39+ others(314): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(290): Show TCCCCACCTCCCCCCACCCCCCCCCCACCTCCCCCACCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCACCCCCTA CCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0171 a0001c0001t0025g0171	1	5	0.2000	297	c.39+ others(314): Show c.39+32844_39+32845insACCCCCCCCCCACCTCCCCCACCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(290): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGT GCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGGGCTAGA AGGACCTGGTGCCGACACACCACACCAGGGGCCAGAAGGACCTGGTGCCG ACCACACCACACCACGGGCCAGAAGGACCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	231	0.0043	297	c.460 others(314): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCA GGTCCTTCTAGCCCCTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCC CATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGT GTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTAC CAGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C8orf90_chr8_141509671_141523729	141515291	C C	CACCCACA others(290): Show CACCCACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCA CCCACACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCACC CACACATTCATCCATACATCCATCCACCCACGCACCTCTCTACCCACCCA TCCATCCACCCATCTACCCACCCATTCACCCAACCACCCATCCATGCATC CACCCAGGCACCCACCCACCCATCCACCCACCCATTCACCCACCCAACCC ACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCACCCACCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01106.hp1 others(27): Show HG00558.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp2 HG01255.hp2 HG01891.hp1 HG02055.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG04115.hp2 HG04199.hp2 NA18747.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0021 a0004c0006t0001g0005 a0001c0001t0001g0005 a0001c0001t0001g0021 a0004c0006t0001g0005	30	72	0.4167	297	c.79+ others(310): Show c.79+517_79+518insCCCACACTTCCACCCACCCACCCACCCAACCA TCCATCCATCCATCCACCCACACTTCCACCCACCCACTCATTCACTCCCC CACCCATCCACCCACCCACACATTCATCCATACATCCATCCACCCACGCA CCTCTCTACCCACCCATCCATCCACCCATCTACCCACCCATTCACCCAAC CACCCATCCATGCATCCACCCAGGCACCCACCCACCCATCCACCCACCCA TTCACCCACCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCAC CCACCCACCCACCTA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf90_chr8_141509671_141523729	141515291	C C	CATCCACA others(290): Show CATCCACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCA TCCACACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCACC CACACATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCCA TCCATCCACCCATCCACCCACCCATTCACCCAACCACCCATCCATGCATC CACCCAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACCT ACCCATCCATCCATCCATCCATCCACCCATCCACCCACCCACCCACCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	43	0.0233	297	c.79+ others(310): Show c.79+521_79+522insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCATCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCACCCACACATTCATCCATACATCCATCCACCCACACACCTC TCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAACCACC CATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCCA CCCAACCCACCTACCCATCCATCCATCCATCCATCCACCCATCCACCCAC CCACCCACCTATCCA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf90_chr8_141509671_141523729	141515299	C C	CACACTTC others(290): Show CACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCACCCA CACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCACCCACA CATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCCATCCA TCCACCCATCCACCCACCCATTCACCCAACCACCCATCCATGCATCCACC CAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACCTACCC ATCCATCCATCCATCCACCCATCCACCCACCCACCCACCTATCCATCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01361.hp1 HG02698.hp2 others(5): Show HG00140.hp2 HG01361.hp1 HG02698.hp2 HG03669.hp2 NA18979.hp1 NA18984.hp1 NA19056.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0001t0001 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0067 a0001c0001t0001g0068 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0002t0001g0010 a0001c0010t0001g0010	8	48	0.1667	297	c.79+ others(310): Show c.79+525_79+526insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCACCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCACCCACACATTCATCCATACATCCATCCACCCACACACCTC TCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAACCACC CATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCCA CCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCAC CCACCTATCCATCTA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf90_chr8_141509671_141523729	141515299	C C	CACACTTC others(290): Show CACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCACCCA CACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCACCCACA CATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCCATCCA TCCACCCATCCACCCACCCATTCACCCAATCACCCATCCATGCATCCACC CAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACCTACCC ATCCATCCATCCATCCACCCATCCACCCACCCACCCACCTATCCATCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02280.hp2 HG02717.hp1 others(6): Show HG01358.hp1 HG02280.hp2 HG02717.hp1 HG03098.hp1 HG03471.hp2 HG03710.hp1 NA19057.hp2 NA19081.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0002t0001g0028 a0001c0002t0001g0029	9	49	0.1837	297	c.79+ others(310): Show c.79+525_79+526insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCACCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCACCCACACATTCATCCATACATCCATCCACCCACACACCTC TCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAATCACC CATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCCA CCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCAC CCACCTATCCATCTA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf90_chr8_141509671_141523729	141515299	C C	CACACTTC others(290): Show CACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCATCCA CACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCACCCACA CATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCCATCCA TCCACCCATCCACCCACCCATTCACCCAACCACCCATCCATGCATCCACC CAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACCTACCC ATCCATCCATCCATCCACCCATCCACCCACCCACCCACCTATCCATCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01109.hp1 others(11): Show HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01255.hp1 HG01361.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 NA18942.hp2 NA19056.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0002t0001g0007 a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0002t0001g0007	14	54	0.2593	297	c.79+ others(310): Show c.79+525_79+526insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCATCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCACCCACACATTCATCCATACATCCATCCACCCACACACCTC TCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAACCACC CATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCCA CCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCAC CCACCTATCCATCTA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
CABLES1_chr18_23130485_23265470	23174474	T T	TAAAACTT others(290): Show TAAAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp2 HG02257.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0007g0268 a0001c0001t0007g0269	2	274	0.0073	297	c.846 others(316): Show c.846-14349_846-14348insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGAAAACTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	TGGGTGGG others(290): Show TGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAG ATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGC CGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGG GGTGGGAGCCGCGGGTGGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0075 a0075	a0075c0112 a0075c0112	a0075c0112t0002 a0075c0112t0002	a0075c0112t0002g0184 a0075c0112t0002g0184	1	159	0.0063	297	c.245 others(314): Show c.2452-327_2452-326insGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGG CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALY_chr10_133319072_133341896	133334355	G G	GGGGGAAG others(290): Show GGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTGAGGGG GGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGAAGCTCTGAGGGGGGAA GGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGAGGCT CTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAAAGGCGAAGGATCTG AGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAG GGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTGAGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0064 a0002c0002t0003g0064	1	247	0.0040	297	c.-21 others(314): Show c.-21+2478_-21+2479insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCC TCATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAG AGCCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCTTCCCCTTCAGAGCC TTCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(290): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGG GGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAG GGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGG GGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGAAG GGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	66	0.0152	297	c.104 others(316): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCACTCCCCTCCCCTTCCCCCCACTCC CCTCCCCTTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCC CCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar

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