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	46292556	G G	GCAAGTTA others(214): Show GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCG GGACTCAGTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01981.hp2 HG02683.hp2 HG00099.hp2 HG01981.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215	3	404	0.0074	221	c.339 others(238): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292556	G G	GCAAGTTA others(214): Show GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCG GGACTCAGTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20300.hp1 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0248 a0001c0001t0003g0204 a0001c0001t0003g0248	2	404	0.0050	221	c.339 others(238): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292712	G G	GACTCTAG others(214): Show GACTCTAGACTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	404	0.0050	221	c.339 others(238): Show c.339+1258_339+1259insCTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292712	G G	GACTCTAG others(214): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACACAAGTTAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	404	0.0025	221	c.339 others(238): Show c.339+1305_339+1306insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293230	A A	AACTCTAG others(214): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0357 a0001c0001t0002g0357	1	404	0.0025	221	c.339 others(238): Show c.339+1833_339+1834insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGG ACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293444	A A	ACAAGTTA others(214): Show ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	404	0.0025	221	c.339 others(238): Show c.339+1989_339+1990insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293475	C C	CGGTTAGC others(214): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG02015.hp2 others(1): Show HG00597.hp1 HG00673.hp2 HG02015.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0318 a0001c0001t0002g0320 others(1): Show a0001c0001t0002g0306 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321	4	404	0.0099	221	c.339 others(238): Show c.339+2027_339+2028insATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293510	A A	ACAGCCAC others(214): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACC CGTGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	404	0.0025	221	c.339 others(238): Show c.339+2063_339+2064insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTCAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293526	G G	GACTCTAG others(214): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp2 HG02895.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0375 a0001c0001t0001g0376	2	404	0.0050	221	c.339 others(238): Show c.339+2137_339+2138insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293526	G G	GACTCTAG others(214): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACACAAGTTAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	404	0.0025	221	c.339 others(238): Show c.339+2119_339+2120insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293638	G G	GTGCCCGG others(214): Show GTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCTTGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02976.hp2 HG02896.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	404	0.0050	221	c.339 others(238): Show c.339+2193_339+2194insAATCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293638	G G	GTGCCCGG others(214): Show GTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCTTGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	404	0.0025	221	c.339 others(238): Show c.339+2193_339+2194insAATCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293658	A A	ACAGCCAC others(214): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACC CGTGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	404	0.0025	221	c.339 others(238): Show c.339+2203_339+2204insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293962	G G	GCAAGTTA others(214): Show GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCA AGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0386 a0001c0001t0001g0386	1	404	0.0025	221	c.340 others(238): Show c.340-2193_340-2192insAACTCTAGATTAAATTCCTCCTTGGTTA GCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTG GAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294067	C C	CGGTTAGC others(214): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	404	0.0025	221	c.340 others(238): Show c.340-2081_340-2080insATGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294156	G G	GTGCCCGG others(214): Show GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCTTGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0381 a0001c0001t0001g0368 a0001c0001t0001g0381	2	404	0.0050	221	c.340 others(238): Show c.340-1989_340-1988insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF644_chr1_90910304_91027035	90950307	G G	GAGGGGAG others(214): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	314	0.0032	221	c.45- others(236): Show c.45-8999_45-8998insTTTCTTTCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289615	T T	TCCCGTGT others(215): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	295	0.0034	222	c.39 others(233): Show c.3948_*3949insGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2775		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289727	C C	CCGTGTCC others(215): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	295	0.0034	222	c.38 others(233): Show c.3836_*3837insACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGAGCA GGGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGAC GGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGGGACA CGGGACGGGGCAGGGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2663		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289890	T T	TCCCGTGT others(215): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	295	0.0034	222	c.36 others(233): Show c.3673_*3674insGGACGGGGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2500		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290072	T T	TCCCGTGT others(215): Show TCCCGTGTCTCTGCCCCGTCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	222	c.34 others(233): Show c.3491_*3492insGAATGGAGCAGAGACACGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGACGGG GCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGA CGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACAC GGGACGGGGCAGAGACACGGACGGGGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2318		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290072	T T	TCCCGTGT others(215): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	222	c.34 others(233): Show c.3491_*3492insGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2318		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(215): Show GGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAGGAAGGAG AGAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGG GAGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGA GGGAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGTGGGAGGGAGGGAGGA TGGTGGGAGGGAGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG02559.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	366	0.0055	222	c.-50 others(233): Show c.-5004_-5003insGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAG GGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAA GGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGA GGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGT GGGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4783		chr1	TogoVar
AFF2_chrX_148495617_149005663	148581334	G G	GTATATAC others(215): Show GTATATACGTATACGTGTACACACATATATATACACGTATATATACGTAT ACGTGTACACACACACACGTATATATACGTATACGTGTACACACACACGT ATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTAC ACACACACGTATATATACGTATACGTGTACACACACACGTATATATACGT ATACGTGTACACACACACGTATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0017 a0001c0001t0027g0017	1	169	0.0059	222	c.48- others(239): Show c.48-70661_48-70660insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AK8_chr9_132720578_132883284	132822280	T T	TATGTGTA others(215): Show TATGTGTATGTATATACAAATATATACATATGTGTATGTATATACAAATA TATACATATGTGTATGTATATACAAATATATACATATGTGTATGTATATA CAAATATATACATATGTGTATGTATATACAAATATATACATATGTGTATG TATATACAAATATATACATATGTGTATGTATATACAAATATATACATATG TGTATGTATATACAAATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	266	0.0038	222	c.889 others(237): Show c.889+924_889+925insGTATATATTTGTATATACATACACATATGT ATATATTTGTATATACATACACATATGTATATATTTGTATATACATACAC ATATGTATATATTTGTATATACATACACATATGTATATATTTGTATATAC ATACACATATGTATATATTTGTATATACATACACATATGTATATATTTGT ATATACATACACATATGTATATATTTGTATATACATACACAT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(215): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCC TTTCCCTTCCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCC TTCCTTTCTTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCT TCCTTTCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0025 a0003c0010t0001g0025	1	48	0.0208	222	c.252 others(243): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGAAGAAAGGAA GGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAG GAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAG GGAAGGGAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAAGGGAGAAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(215): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTC TTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTCCTTCCTTCCTTCCTTTCT TCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp2 HG03540.hp1 HG02451.hp1 HG03453.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0019 a0001c0001t0025 a0002c0005t0021 a0001c0001t0019 a0001c0001t0025 a0002c0005t0021	a0001c0001t0019g0014 a0001c0001t0025g0046 a0002c0005t0021g0043 a0001c0001t0019g0014 a0001c0001t0025g0046 a0002c0005t0021g0043	3	48	0.0625	222	c.252 others(243): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGGAGGAA GAAAGGAAGGAAGGAAGGAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAG AAAGGAAGGAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGGGAAGGGAGAAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANO3_chr11_26327130_26668289	26529238	T T	TTATATAA others(215): Show TTATATAATTATATATTATATAATATATATATAATATATATTATATAATA TATATTATATATTATATAATATATAATATATAATATATAATATATATTAT ATAATATATATTATATAATATATATTATATATTATATAATATATAATATA TAATATATAATATATAATATATATTATATATTATATATTATATAATATAT AATATATATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	190	0.0053	222	c.738 others(239): Show c.738-1959_738-1958insTATATATTATATAATATATATATAATAT ATATTATATAATATATATTATATATTATATAATATATAATATATAATATA TAATATATATTATATAATATATATTATATAATATATATTATATATTATAT AATATATAATATATAATATATAATATATAATATATATTATATATTATATA TTATATAATATATAATATATATTATATATTATATAATATATAAT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA4_chr11_116815700_116828304	116818370	A A	ATTATATA others(215): Show ATTATATATGAATATATATGAATATATATATGAATATATATGAATATATA TATGAATATATATATGAATATATATGAATATATATATGAATATATATGAA TATATATATGAATATATATGAATATATATATGAATATATATGAATATATA TATGAATATATATGAATATATATATGAATATATATGAATATATATATGAA TATATATGAATATATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	462	0.0022	222	c.24 others(233): Show c.2496_*2497insATTCATATATATATTCATATATATTCATATATAT ATTCATATATATTCATATATATATTCATATATATTCATATATATATTCAT ATATATTCATATATATATTCATATATATTCATATATATATTCATATATAT TCATATATATATTCATATATATTCATATATATATTCATATATATATTCAT ATATATTCATATATATATTCATATATATTCATATATAA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2329		chr11	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTTA others(215): Show CGTATTTATACATATATGTATAAATACATACATATTTATACATATATGTA TACATACATATTTATACATATATATGTATAAATACATACATATTTATACA TATATATGTATAAATACATACATATTTATACATATATATGTATAAATACA TACACATATTTATACATATATGTATAAATACATATACATATTTATACATA TATGTATAAATACATATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0007 a0001c0001t0015g0007	2	256	0.0078	222	c.39 others(231): Show c.393_*394insGTATTTATACATATATGTATAAATACATACATATTT ATACATATATGTATACATACATATTTATACATATATATGTATAAATACAT ACATATTTATACATATATATGTATAAATACATACATATTTATACATATAT ATGTATAAATACATACACATATTTATACATATATGTATAAATACATATAC ATATTTATACATATATGTATAAATACATATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1873510	T T	TTTGAGAG others(215): Show TTTGAGAGGCGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGA GAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTG CCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCG GGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAG TGCACCCGCATTTCCTAGTTGCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0145 a0001c0001t0043g0145	1	363	0.0028	222	c.680 others(239): Show c.680-2890_680-2889insAGTTGCCTTGAGAGGTGCCGCGGGGTAG TGCACCCGCATTTCCTAGTTGCCTTGAGAGGCGCCCGCGGGGTAGTGCAC CCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCAT TTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCT AGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF28_chr5_73621196_73946990	73806753	G G	GATATATA others(215): Show GATATATAGTATATATCTATATAGATATATAGTATATACCATATATAGAT ATATAGTATATATCTATATATGCCATATATAGATATCTATATATGCCATA TATAGATATCTATATATGGCATGTATAGATATCTATATATGGCATATATA GATATATACTATATATCTATATATCTATATATGGCATATATAGATATATA CTATATATCTATATATGCCATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0026 a0026	a0026c0055 a0026c0055	a0026c0055t0001 a0026c0055t0001	a0026c0055t0001g0135 a0026c0055t0001g0135	1	188	0.0053	222	c.102 others(243): Show c.1024+11368_1024+11369insAGTATATATCTATATAGATATATA GTATATACCATATATAGATATATAGTATATATCTATATATGCCATATATA GATATCTATATATGCCATATATAGATATCTATATATGGCATGTATAGATA TCTATATATGGCATATATAGATATATACTATATATCTATATATCTATATA TGGCATATATAGATATATACTATATATCTATATATGCCATATATATAT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	9/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(215): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCC TCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	264	0.0038	222	c.102 others(239): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCC CGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(215): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCC TCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	264	0.0038	222	c.102 others(239): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198301	G G	GGAGGGGA others(215): Show GGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGG ACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAG GGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGGAC GGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGTGAG GGGAGGGGAGGGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG02976.hp2 others(1): Show HG00423.hp2 HG00642.hp1 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0207 a0001c0001t0003g0035 a0001c0001t0003g0036 others(1): Show a0001c0001t0001g0207 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0042	4	216	0.0185	222	c.311 others(239): Show c.311-1313_311-1312insTCCTCCCCTCCCCCTCCCCTCCCCTCAC CCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCC CTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTCCCCTCCCCCTCCC CTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTCCCCGTCCCCC CTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCCTCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(215): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0116 a0003c0003t0001g0116	1	378	0.0027	222	c.960 others(239): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOSA_chr15_52576321_52684388	52674205	T T	TAAGACCA others(215): Show TAAGACCACATTTTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGA CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0120 a0004c0005t0001g0120	1	362	0.0028	222	c.16+ others(237): Show c.16+3800_16+3801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTAAAATGTGGTCTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(215): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACTATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACA ACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTA TATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01496.hp2 HG03492.hp1 HG00738.hp2 HG01496.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0001g0162 a0001c0001t0003g0191 a0001c0001t0001g0038 a0001c0001t0001g0162 a0001c0001t0003g0191	3	236	0.0127	222	c.676 others(239): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATA TATTTATGTTGTATATACGTATATACAACATATATAGTATATACGTATAT ACAACATATATTTATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
B4GALNT4_chr11_364499_387117	374899	G G	GAGGGAGG others(215): Show GAGGGAGGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0039 a0003c0039	a0003c0039t0001 a0003c0039t0001	a0003c0039t0001g0025 a0003c0039t0001g0025	1	184	0.0054	222	c.784 others(237): Show c.784-554_784-553insGAGGAGGAAGGGAGGGAGGTGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGGAGGAAGGGAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTGCCC others(215): Show TCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCT TCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCT GCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGC CCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCC CTTCCCCTTTTCCCCCCTTCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG00639.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0302 a0001c0001t0001g0164 a0001c0001t0001g0302	2	420	0.0048	222	c.910 others(237): Show c.910-574_910-573insGCCCCCTTCCCCCTTGCCCCCTTCTCCCCT TCCTTCCTTCCTTCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCT TCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTC CTTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTC CTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCCCCT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(215): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGATGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGG GGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGG GGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0023 a0001c0009t0002g0023	1	298	0.0034	222	c.51+ others(235): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCATCCCCCCTCTCCTTCC CCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(215): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGG GGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGG GGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	298	0.0034	222	c.51+ others(235): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCCCCTCTCCTTCC CCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(215): Show GAGGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGATGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGG GGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGG GGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0031 a0001c0011t0002g0031	1	298	0.0034	222	c.51+ others(235): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCATCCCCCCTCTCCTTCCC CCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(215): Show GGGAGGGAGAGGGGGGAGGAGGGAGGGAGAGGGGGGAGGGGGGAGGGGGA GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGAGAGGGGGGAT GGGGATGGGGGAGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGAGG GGGGAGGGGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGG GGAGGAGGTGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02273.hp2 NA18963.hp2 others(4): Show HG00423.hp1 HG02273.hp2 NA18963.hp2 NA18970.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0007 a0004c0016 a0001c0003 a0001c0007 a0004c0016	a0001c0003t0003 a0001c0003t0019 a0001c0007t0003 others(1): Show a0001c0003t0003 a0001c0003t0019 a0001c0007t0003 a0004c0016t0003	a0001c0003t0003g0242 a0001c0003t0003g0244 a0001c0003t0003g0246 others(4): Show a0001c0003t0003g0242 a0001c0003t0003g0244 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0019g0243 a0001c0007t0003g0248 a0004c0016t0003g0245	7	298	0.0235	222	c.51+ others(235): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATCCCCCCT CTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCCCCCTCC CCCCTCCCCCCTCTCCCTCCCTCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(215): Show ATATATTTATAATAAATATATATTATATATTTATAATAAATATATATTAT ATATTTATTATAAATATATAATATATATTTATTATAAATATAATATATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATTATAT ATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTAT AATAAATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03130.hp2 HG03453.hp2 others(2): Show HG01884.hp1 HG03130.hp2 HG03453.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0001t0032 a0001c0001t0055 others(1): Show a0001c0001t0004 a0001c0001t0032 a0001c0001t0055 a0001c0007t0050	a0001c0001t0004g0019 a0001c0001t0004g0166 a0001c0001t0032g0033 others(2): Show a0001c0001t0004g0019 a0001c0001t0004g0166 a0001c0001t0032g0033 a0001c0001t0055g0039 a0001c0007t0050g0186	5	290	0.0172	222	c.426 others(241): Show c.426+35676_426+35677insATATTATATATTTATAATAAATATAT ATTATATATTTATTATAAATATATAATATATATTTATTATAAATATAATA TATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATAT TATATATTATATATTATATTTATAATAAATATTATATATTATATATTATA TTTATAATAAATATTATATATTATATATTATATTTATAATAAATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(215): Show ATATATTTATAATAAATATATATTATATATTTATTATAAATATATAATAT ATATTTATTATAAATATATAATATATATTTATTATAAATATAATATATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATTATAT ATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTAT AATAAATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0028 a0001c0002t0007g0028	1	290	0.0035	222	c.426 others(241): Show c.426+35676_426+35677insATATTATATATTTATTATAAATATAT AATATATATTTATTATAAATATATAATATATATTTATTATAAATATAATA TATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATAT TATATATTATATATTATATTTATAATAAATATTATATATTATATATTATA TTTATAATAAATATTATATATTATATATTATATTTATAATAAATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(215): Show ATATATATATATATATATATATATATATATATACCCATGGGTATATATAT ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATATATATAC CCATGGGTATATATATATATATATATATATATACCCATGGGTATATATAT ATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0121 a0001c0001t0048g0121	1	386	0.0026	222	c.-81 others(241): Show c.-81-13410_-81-13409insTATACCCATGGGTATATATATATATA TATATATATATATATATACCCATGGGTATATATATATATATATATATATA TATACCCATGGGTATATATATATATATATATATATATATATATACCCATG GGTATATATATATATATATATATATATACCCATGGGTATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRAT1_chr7_2532810_2560524	2534119	G G	GGGGCTCC others(215): Show GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	424	0.0024	222	c.39 others(233): Show c.3949_*3950insTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding		3690		chr7	TogoVar
BSN_chr3_49549477_49676549	49606254	A A	ATACATAT others(215): Show ATACATATATTATATATGTATATATAATATATACATATATTATATATGTA TATATTATATATACATATATTATATATGTATATATTATATATAAAATATA TATAATATATATTAAAAATATATATTATATATATTAAAAATATATATTAT ATATATTAAAAATATATATTATATATATTAAAATATATATATAATATATA TTAAAAATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0015 a0003c0004t0004g0015	1	186	0.0054	222	c.225 others(241): Show c.225-18719_225-18718insCATATATTATATATGTATATATAATA TATACATATATTATATATGTATATATTATATATACATATATTATATATGT ATATATTATATATAAAATATATATAATATATATTAAAAATATATATTATA TATATTAAAAATATATATTATATATATTAAAAATATATATTATATATATT AAAATATATATATAATATATATTAAAAATATATATTATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTRC_chr10_101349165_101562313	101366940	A A	ATATATAA others(215): Show ATATATAAATATATATTTATATATATTAATATATATTTATATATATTTAT ATATAAATATATATTTATATATATTAATATATATTAATATATATTTTTAT ATATTTATATATAAATATATATTAATATATATATTTATATATTTATATAT ATTTATATATATTTATATATATATTTATATATTTATATATATTTATATAT TTATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	266	0.0038	222	c.48+ others(239): Show c.48+12718_48+12719insAATATATATTTATATATATTAATATATA TTTATATATATTTATATATAAATATATATTTATATATATTAATATATATT AATATATATTTTTATATATTTATATATAAATATATATTAATATATATATT TATATATTTATATATATTTATATATATTTATATATATATTTATATATTTA TATATATTTATATATTTATATATATATTTATATATATTTATATA	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar

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