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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
YBEY_chr21_46281342_46302751	46292527	T T	TGTGCCCG others(288): Show TGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	378	0.0026	295	c.339 others(312): Show c.339+1077_339+1078insCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACT		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(288): Show GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp1 HG02451.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0130 a0001c0001t0001g0131	2	198	0.0101	295	c.339 others(312): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCC		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(288): Show GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGGGACAGCCACA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	197	0.0051	295	c.339 others(312): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCCGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCC		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292696	A A	ACAGCCAC others(288): Show ACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	262	0.0038	295	c.339 others(312): Show c.339+1305_339+1306insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGG		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292926	A A	ACAAGTTA others(288): Show ACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCC CGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	245	0.0041	295	c.339 others(312): Show c.339+1471_339+1472insAACTCTAGATTAAATTCCTCCTTGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTA		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293074	G G	GCAAGTTA others(288): Show GCAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	282	0.0035	295	c.339 others(312): Show c.339+1642_339+1643insTGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCG		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293156	A A	AACTCTAG others(288): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTA GCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	275	0.0036	295	c.339 others(312): Show c.339+1749_339+1750insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGG		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293156	A A	AACTCTAG others(288): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTA GCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	275	0.0036	295	c.339 others(312): Show c.339+1767_339+1768insGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTA		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293179	C C	CGGTTAGC others(288): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	391	0.0026	295	c.339 others(312): Show c.339+1731_339+1732insATGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CTTGGTTAGCCTGACCC		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293253	C C	CGGTTAGC others(288): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	387	0.0026	295	c.339 others(312): Show c.339+1805_339+1806insATGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CTTGGTTAGCCTGACCC		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293342	G G	GTGCCCGG others(288): Show GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACG CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	283	0.0035	295	c.339 others(312): Show c.339+1907_339+1908insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCAC		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(288): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18747.hp1 HG02155.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0294 a0001c0001t0002g0295	2	383	0.0052	295	c.339 others(312): Show c.339+2027_339+2028insATGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CTTGGTTAGCCTGACCC		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(288): Show CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	382	0.0026	295	c.339 others(312): Show c.339+2045_339+2046insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCG TGCCCGGGACTCAGTGG		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(288): Show ACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0346 a0001c0001t0002g0346	1	302	0.0033	295	c.339 others(312): Show c.339+2055_339+2056insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCT TGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCAC		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293564	G G	GTGCCCGG others(288): Show GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACA CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0352 a0001c0001t0002g0352	1	304	0.0033	295	c.339 others(312): Show c.339+2119_339+2120insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA TGCCCGGGACTCAGTGG		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293584	T T	TCAGCCAC others(288): Show TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0351 a0001c0001t0002g0351	1	263	0.0038	295	c.339 others(312): Show c.339+2129_339+2130insACAAGTTAAACTCTAGATTAAATTCCTC CTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCAC		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293732	T T	TCAGCCAC others(288): Show TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC TGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0357 a0001c0001t0002g0357	1	298	0.0034	295	c.339 others(312): Show c.339+2277_339+2278insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCAC		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293770	G G	GTGGTTAG others(288): Show GTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	400	0.0025	295	c.339 others(312): Show c.339+2308_339+2309insTGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCT		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4						chr21	TogoVar
ZFAT_chr8_134472788_134718031	134498143	T T	TGGGGTGG others(288): Show TGGGGTGGAGCCGTGATGCCCCTGCTGCTGGTTACACACAGAGCCTGATT TTGTAGGGTTGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAC AGCCTGATTTGGTAGGGTTGGGGTGGAACTGGGATGCCCCCGTTGCTGGT TACACACAGAGCCTGATTTGGTAGGGTCGGGGTGGAGCTGGGATGCCCCC GTTGCTGGTTACACACAGAGCCTGATTTGGTAGGGTTGGGGTGGAACTGG GATGCCCCCGTTGCTGGTTACACACAGAGCCTGATTTGGTAGGGTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0003 a0003c0021t0003	a0003c0021t0003g0132 a0003c0021t0003g0143 a0003c0021t0003g0132 a0003c0021t0003g0143	2	271	0.0074	295	c.349 others(316): Show c.3492+11475_3492+11476insGACCCTACCAAATCAGGCTCTGTG TGTAACCAGCAACGGGGGCATCCCAGTTCCACCCCAACCCTACCAAATCA GGCTCTGTGTGTAACCAGCAACGGGGGCATCCCAGCTCCACCCCGACCCT ACCAAATCAGGCTCTGTGTGTAACCAGCAACGGGGGCATCCCAGTTCCAC CCCAACCCTACCAAATCAGGCTGTGTGTGTAACCAGCAACGGGGGCATCC CAGCTCCACCCCAACCCTACAAAATCAGGCTCTGTGTGTAACCAGCAGCA GGGGCATCACGGCTCCACCCC		ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15						chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370882	C C	CATATATA others(288): Show CATATATATCACATATATGATATATATATCATATATCACATATATGATAT ATATATCATATATCACATATATGATATATATATCATATATATCATATGAT ATATATCATATATATCACATATATGATATATATCACATGTGATATATAGC ATATATATCATGCTATACATCATATATGATATATATGATATATATCACGC ATGCTATATAGCATATGTGATATATATGATATATATCACATATGCTATAT AGCATATGTGATATATATGATATATATCACATATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	16	0.0625	295	c.-35 others(306): Show c.-3590_-3589insATATATATCACATATATGATATATATATCATATA TCACATATATGATATATATATCATATATCACATATATGATATATATATCA TATATATCATATGATATATATCATATATATCACATATATGATATATATCA CATGTGATATATAGCATATATATCATGCTATACATCATATATGATATATA TGATATATATCACGCATGCTATATAGCATATGTGATATATATGATATATA TCACATATGCTATATAGCATATGTGATATATATGATATATATCACATATG CTATATATCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3486		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370882	C C	CATATATA others(288): Show CATATATATCACATATATGATATATATATCATATATCACATATATGATAT ATATATCATATATCACATATATGATATATATATCATATATATCATATGAT ATATATCATATATATCACATATATGATATATATCACATGTGATATATAGC ATATATATCATGCTATACATCATATATGATATATATGATATATATCACGT ATGCTATATAGCATATGTGATATATATGATATATATCACATATGCTATAT AGCATATGTGATATATATGATATATATCACATATGCTATATAGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	16	0.0625	295	c.-35 others(306): Show c.-3590_-3589insATATATATCACATATATGATATATATATCATATA TCACATATATGATATATATATCATATATCACATATATGATATATATATCA TATATATCATATGATATATATCATATATATCACATATATGATATATATCA CATGTGATATATAGCATATATATCATGCTATACATCATATATGATATATA TGATATATATCACGTATGCTATATAGCATATGTGATATATATGATATATA TCACATATGCTATATAGCATATGTGATATATATGATATATATCACATATG CTATATAGCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3486		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370882	C C	CATATATA others(288): Show CATATATATCACATATATGATATATATATCATATATCACATATATGATAT ATATATCATATATCACATATATGATATATATATCATATATATCATATGAT ATATATCATATATATCACATATATGATATATATCACATGTGATATATAGC ATATATATCATGCTATACATCATATATGATATATATGATATATATCACGT ATGCTATATAGCATATGTGATATATATGATATATATCACATATGCTATAT AGCATATGTGATATATATGATATATATCACATATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01981.hp1 HG02027.hp1 others(9): Show HG00438.hp1 HG01981.hp1 HG02027.hp1 HG02129.hp2 HG04115.hp2 NA18949.hp2 NA18950.hp1 NA18993.hp1 NA19000.hp2 NA19001.hp1 NA19007.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0015 others(5): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0148	12	27	0.4444	295	c.-35 others(306): Show c.-3590_-3589insATATATATCACATATATGATATATATATCATATA TCACATATATGATATATATATCATATATCACATATATGATATATATATCA TATATATCATATGATATATATCATATATATCACATATATGATATATATCA CATGTGATATATAGCATATATATCATGCTATACATCATATATGATATATA TGATATATATCACGTATGCTATATAGCATATGTGATATATATGATATATA TCACATATGCTATATAGCATATGTGATATATATGATATATATCACATATG CTATATATCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3486		chr10	TogoVar
ZNF862_chr7_149833375_149872479	149859034	A A	ACGTGCGT others(288): Show ACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0195	1	409	0.0024	295	c.111 others(312): Show c.1118-387_1118-386insGTGCGTGGGCCAGCTGTGGGGGCAGAGG GGCACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCA GCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGG GCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAG CTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGG CACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGC TGTGGGGGCAGAGGGGC		ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF99_chr19_22747183_22789151	22758270	T T	TAAAAGCT others(288): Show TAAAAGCTTTGCCACCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02015.hp2 HG02015.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0139 a0011c0020t0001g0139	1	342	0.0029	295	c.163 others(304): Show c.1638_1639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGGTGGC AAAGCTTTT	p.Asn others(5): Show p.Asn547fs	ZNF99	ENSG00000213973.10	transcript	ENST00000596209.4	protein_coding	4/4	1773/7861	1638/2595	546/864			chr19	TogoVar
ACAP3_chr1_1287391_1312930	1289093	C C	CCCCGTGT others(289): Show CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	267	0.0037	296	c.44 others(307): Show c.4470_*4471insACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAG CAGGGACACGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3297		chr1	TogoVar
ACOD1_chr13_76943511_76963638	76961647	T T	TAAAAAGC others(289): Show TAAAAAGCACAAAATAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01258.hp2 HG01515.hp1 others(3): Show HG01192.hp2 HG01258.hp2 HG01515.hp1 HG01981.hp1 HG04115.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0067 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0004t0001g0003	6	402	0.0149	296	c.36 others(307): Show c.3662_*3663insAAAAAGCACAAAATAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA		ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding					3010		chr13	TogoVar
ADAMTS16_chr5_5135330_5325304	5305463	A A	ACACACCC others(289): Show ACACACCCCACACCACACACACACATCCCACACCACACACACACACATCC CACACCACACACACATCCCACACCACACACACACACACACACTTCCCACA CCACACACACACACACTTCCCACACCAGACACACACACATCCCACACCAC ACACACACACCACACACACCACACCACAGACACACACATCCCACACCACA CACCCCCCACACACACACATCCCACACCACACACAGACATCCCACACCAC ACACACACATCCCACACCACACACACACACATCCCGCACCACACACT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0292 a0002c0002t0002g0292	1	207	0.0048	296	c.318 others(315): Show c.3187-1036_3187-1035insCCCACACCACACACACACATCCCACA CCACACACACACACATCCCACACCACACACACATCCCACACCACACACAC ACACACACACTTCCCACACCACACACACACACACTTCCCACACCAGACAC ACACACATCCCACACCACACACACACACCACACACACCACACCACAGACA CACACATCCCACACCACACACCCCCCACACACACACATCCCACACCACAC ACAGACATCCCACACCACACACACACATCCCACACCACACACACACACAT CCCGCACCACACACTCACAC		ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72400324	G G	GTGTATAT others(289): Show GTGTATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGTG CATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATACACAC GGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATAC GTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATA CACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATA TATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0034 a0001c0003t0002g0034	1	154	0.0065	296	c.661 others(315): Show c.661+14490_661+14491insTGCACACGTATATATACACACCGTGT GTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGCACA CGTATATATACACACCGTGTGTATATCTATGCACACGTATATATACACAC CGTGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTAT GCACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATATA CACACCGTGTGTATATCTATGCACACGTATATATACACACCGTGTGTATA TCTATGCACACGTATATACA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21						chr4	TogoVar
ADARB2_chr10_1172313_1742525	1219929	G G	GGTGATGA others(289): Show GGTGATGATGGTGGTGATAATGGTGATGGTGGTGGTGATGGATGATGGTG ATGGTGGTGATGATGGTGATGATGATGGTAATGGTGATGGTGATGATGGT GGTGATGATGGTAATGGTGATGGTGGTGGTGGTGATGATGGTGATGGTGA TGATGGTGGTAATGGTGATGGTGTGTGGTGGTGATGATGGTGATGATGGT GAAGATAATGATGGCAATGGTGATGATGGTGATGGTAATGATGGTGGTGA TGATGGTGGTGATGATGATGATGGTAATGGTGGTGATGATGGTGATT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	106	0.0094	296	c.151 others(315): Show c.1514-2811_1514-2810insAATCACCATCATCACCACCATTACCA TCATCATCATCACCACCATCATCACCACCATCATTACCATCACCATCATC ACCATTGCCATCATTATCTTCACCATCATCACCATCATCACCACCACACA CCATCACCATTACCACCATCATCACCATCACCATCATCACCACCACCACC ATCACCATTACCATCATCACCACCATCATCACCATCACCATTACCATCAT CATCACCATCATCACCACCATCACCATCATCCATCACCACCACCATCACC ATTATCACCACCATCATCAC		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	6/9						chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133135716	G G	GTCTGGTC others(289): Show GTCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGG CGGGTCTGGTCTCTGGGTCCCTTTGGGGGGGTCCTGGTCTCTGGGTCCCT GTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGGGGGTTCTGGTCTCTGGGT CCCTGTGGGGGCGGCTGATCTCTGGGTCCCTGTGGGGGGGTCTGGTCTCT GGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCTCTGTGGGGGTTCTGGTC TCTGGGTCCCTGGGGGGGCGGCTGGTCTCTGGGTCCCTGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02129.hp1 HG02602.hp1 others(3): Show HG00099.hp2 HG02129.hp1 HG02602.hp1 HG03710.hp1 HG03927.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0047 others(1): Show a0001c0001t0002 a0001c0001t0024 a0001c0001t0047 a0001c0001t0072	a0001c0001t0002g0077 a0001c0001t0024g0044 a0001c0001t0024g0118 others(3): Show a0001c0001t0002g0077 a0001c0001t0024g0044 a0001c0001t0024g0118 a0001c0001t0024g0143 a0001c0001t0047g0269 a0001c0001t0072g0038	6	263	0.0228	296	c.62 others(307): Show c.6205_*6206insTCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCT CTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTCCCTTTGGGGGGGTCCT GGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGGGGG TTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGATCTCTGGGTCCCTGTGG GGGGGTCTGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCTCT GTGGGGGTTCTGGTCTCTGGGTCCCTGGGGGGGCGGCTGGTCTCTGGGTC CCTGTGGGGGGT		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding					4042		chr10	TogoVar
AFDN_chr6_167821911_167977023	167976167	C C	CAGGAGGC others(289): Show CAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAG GCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGG GGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCATTC CCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCA GTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGG GGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0099 a0001c0001t0013g0099	1	239	0.0042	296	c.62 others(307): Show c.6232_*6233insAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTG TGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGA GGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGA CAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGG GTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCC CCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAG TGTGCGGGGAGG		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding					4145		chr6	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(289): Show ATATATATATAAATATATATATTTATAAATATATATATTTATATATATAA ATATATATATTTATAAATATATATATTTATATATATAAATATATATATTT ATAAATATATATTTATATATATAAATATATATATTTATAAATATATATAT TTATATATATAAATATATATATTTATAAATATATATATTTATATATATAA ATATATATATTTATAAATATATATTTATATATATAAATATATATATTTAT AAATATATATTTATATATATATATATATATTTATAAATATATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	53	0.0189	296	c.34+ others(313): Show c.34+75810_34+75811insAATATATATATTTATAAATATATATATA TATATATAAATATATATTTATAAATATATATATTTATATATATAAATATA TATTTATAAATATATATATTTATATATATAAATATATATATTTATAAATA TATATATTTATATATATAAATATATATATTTATAAATATATATATTTATA TATATAAATATATATTTATAAATATATATATTTATATATATAAATATATA TATTTATAAATATATATATTTATATATATAAATATATATATTTATAAATA TATATATTTATATATATA		AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13						chr1	TogoVar
AGMO_chr7_15195317_15567015	15529622	T T	TACATATA others(289): Show TACATATAGTATATATATTCTATATATAGAATATATATACTATATATAGA ATATATATACTATATATATTCTATATATAGAATACATATAGTATATATAT TCTATATATAGAATATATATAGAATATATATACTATATATATTCTATATA TAGAATACATATAGTATATATATTCTATATATAGAATATATATAGAATAT ATATACTATATTAATTCTATATATAGAATATATATAGAATATATATATAG AATATATATAGAATATATATAGAATATATATTCTATATATATATAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0007 a0003c0009t0007	a0003c0009t0007g0005 a0003c0009t0007g0005	1	232	0.0043	296	c.409 others(315): Show c.409+15149_409+15150insTCTATATATATATAGAATATATATTC TATATATATTCTATATATATTCTATATATATATTCTATATATATTCTATA TATAGAATTAATATAGTATATATATTCTATATATATTCTATATATAGAAT ATATATACTATATGTATTCTATATATAGAATATATATAGTATATATATTC TATATATATTCTATATATAGAATATATATACTATATGTATTCTATATATA GAATATATATAGTATATATATTCTATATATAGTATATATATTCTATATAT AGAATATATATACTATATGT		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12						chr7	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(289): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATTTATATA TATAGAATATATATATAGAATATATATTTATATATATAGAATATATATAT AGAATATATATTTATATATATAGAATATATATATAGAATATATATTTATA TATATAGAATATATATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02155.hp2 NA18946.hp2 others(1): Show HG02083.hp1 HG02155.hp2 NA18946.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0259 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0259 a0001c0001t0003g0226	4	153	0.0261	296	c.70- others(313): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAAATATATATTCTATATATATATTCTATATATATAAATATAT ATTCTATATATATATTCTATATATATAAATATATATTCTATATATATATT CTATATATATAAATATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(289): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0173 a0002c0001t0001g0173	1	207	0.0048	296	c.494 others(311): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAATTTG		ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6						chr1	TogoVar
ARHGAP32_chr11_128960060_129197325	129046353	T T	TAATAATG others(289): Show TAATAATGGCTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp2 HG02451.hp1 others(4): Show HG00642.hp2 HG01496.hp2 HG02451.hp1 HG02602.hp2 HG02683.hp2 HG03471.hp1 NA21309.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0010 a0001c0015 others(2): Show a0001c0001 a0001c0010 a0001c0015 a0001c0016 a0014c0036	a0001c0001t0002 a0001c0010t0008 a0001c0015t0035 others(3): Show a0001c0001t0002 a0001c0010t0008 a0001c0015t0035 a0001c0016t0002 a0001c0016t0014 a0014c0036t0020	a0001c0001t0002g0190 a0001c0010t0008g0193 a0001c0010t0008g0194 others(4): Show a0001c0001t0002g0190 a0001c0010t0008g0193 a0001c0010t0008g0194 a0001c0015t0035g0095 a0001c0016t0002g0192 a0001c0016t0014g0191 a0014c0036t0020g0195	7	392	0.0179	296	c.964 others(313): Show c.964-5345_964-5344insCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAA AACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAACAGCCATTATT		ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding	10/22						chr11	TogoVar
ARHGAP32_chr11_128960060_129197325	129046353	T T	TAATAATG others(289): Show TAATAATGGCTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp1 HG03540.hp1 HG02809.hp2 HG03209.hp1 HG03540.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0008 a0005c0011t0021 a0005c0011t0008 a0005c0011t0021	a0005c0011t0008g0072 a0005c0011t0008g0073 a0005c0011t0021g0071 a0005c0011t0008g0072 a0005c0011t0008g0073 a0005c0011t0021g0071	3	388	0.0077	296	c.964 others(313): Show c.964-5345_964-5344insCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAA AACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAACAGCCATTATT		ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding	10/22						chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1888183	T T	TGAGGGTT others(289): Show TGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAG TGAGTGGGGTGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCG AGGAGACAGTGAGTGGGGTGAGGGTTTGCGAGGAGACACTTAGTGGGGCG AGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTG AGTGGGGTGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAG GAGACAGTGAGTGGGGTGAGGGTTTGCGAGGAGACACTTAGTGGGGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0055 a0001c0005t0001g0055	1	266	0.0038	296	c.118 others(315): Show c.1182+2531_1182+2532insGGGTGAGGGTTTGCGAGGAGACACTT AGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTGGGGTGAGGGTTTGCGAG GAGACACTTAGTGGGGCGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAG GGTTGCGAGGAGACAGTGAGTGGGGTGAGGGTTTGCGAGGAGACACTTAG TGGGGCGAGGGTTGCGAGGAGACAGTGAGTGGGGTGAGGGTTTGCGAGGA GACACTTAGTGGGGCGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGG TTGCGAGGAGACAGTGAGTG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758753	A A	ACTCATTC others(289): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTC CGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0289 a0003c0003t0002g0289	1	275	0.0036	296	c.654 others(315): Show c.654+22265_654+22266insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758764	T T	TCACCTGC others(289): Show TCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGC TCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGAC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0143 a0005c0005t0001g0143	1	170	0.0059	296	c.654 others(315): Show c.654+22254_654+22255insGTCGGAATGAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAAT GAGTTAGGGTGGAGCAGGTG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(289): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCCA CCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0090 a0002c0003t0002g0090	1	5	0.2000	296	c.39+ others(313): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCAC CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCA CCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCCCACCTCCCCCC		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(289): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCCA CCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02970.hp1 NA19011.hp1 others(3): Show HG02132.hp2 HG02970.hp1 NA19011.hp1 NA19063.hp1 NA19063.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0001c0009 others(3): Show a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0003c0007 a0003c0047	a0001c0002t0031 a0001c0005t0001 a0001c0009t0051 others(3): Show a0001c0002t0031 a0001c0005t0001 a0001c0009t0051 a0001c0011t0048 a0003c0007t0011 a0003c0047t0001	a0001c0002t0031g0097 a0001c0005t0001g0039 a0001c0009t0051g0141 others(3): Show a0001c0002t0031g0097 a0001c0005t0001g0039 a0001c0009t0051g0141 a0001c0011t0048g0011 a0003c0007t0011g0175 a0003c0047t0001g0038	6	10	0.6000	296	c.39+ others(313): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCAC CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCA CCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCCCACCTCCCCCC		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(289): Show TCCCCACCTCCCCCCCACCCCCCCCACCTCCCCCACCCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCC CCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTA CCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0012 a0012	a0012c0043 a0012c0043	a0012c0043t0001 a0012c0043t0001	a0012c0043t0001g0069 a0012c0043t0001g0069	1	5	0.2000	296	c.39+ others(313): Show c.39+32844_39+32845insCACCCCCCCCACCTCCCCCACCCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCC ACCCCCCCACCTCCCCCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50085958	T T	TATAAATA others(289): Show TATAAATATATATGATATATATCATATATATTTATATATGATATATATCA TATATATTTATATATGATATATATCATATATATTTATATATGATATATAT CATATATATTTATATATGATATATATCATATATATTTATATATGATATAT ATCATATATATTTATATATGATATATATCATATATATTTATATATGATAT ATATCATATTTATATATGATATATATCATATTTATATATGATATATATCA TATATATTTATATATGATATATATCATATTTATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0124 a0003c0003t0001g0125	2	231	0.0087	296	c.29- others(313): Show c.29-11774_29-11773insGATATATATCATATATAAATATGATATA TATCATATATAAATATATATGATATATATCATATATAAATATGATATATA TCATATATAAATATGATATATATCATATATAAATATATATGATATATATC ATATATAAATATATATGATATATATCATATATAAATATATATGATATATA TCATATATAAATATATATGATATATATCATATATAAATATATATGATATA TATCATATATAAATATATATGATATATATCATATATAAATATATATGATA TATATCATATATATTTAT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
B4GALNT4_chr11_364499_387117	375020	G G	GAGGGAGG others(289): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	1	83	0.0120	296	c.784 others(311): Show c.784-434_784-433insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
C10orf90_chr10_126419997_126675693	126564889	T T	TAATATAT others(289): Show TAATATATAATATATATTATATATAATATATAATATATATTATATATAAT ATATATTATATATAATATATATTATATATAATATATATTATATATAATAT ATATTATATATTATATAAAATATATATTATATATAATATATATTATATAT TATATATAATATATAATATATATTATATATAATATATATTATATAAAATA TATATTATATATAATATATATTATATATTATATAATATATATTATATATA ATATATATTATATATTATATAAAATATATATTATATAATATATAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0113 a0002c0004t0001g0113	1	212	0.0047	296	c.314 others(315): Show c.314-50951_314-50950insTTTTATATATTATATAATATATATTT TATATAATATATAATATATATTATATATAATATATATTATATAATATATA ATATATATTATATATAATATATATTTTATATAATATATATTATATATAAT ATATATTATATATTATATATAATATATAATATATATTATATATAATATAT ATTTTATATAATATATAATATATATTATATATAATATATATTATATATAA TATATATTATATATAATATATATTATATATAATATATATTATATATTATA TATAATATATATTATATATT		C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9						chr10	TogoVar
C2CD4C_chr19_400445_414147	404252	G G	GTGGGGGG others(289): Show GTGGGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGATGGGGT CCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGGGGTCTG AGGGGGTACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAACGGGGTCCTG CCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAG GGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGC CCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0005 a0006c0011t0005	a0006c0011t0005g0151 a0006c0011t0005g0151	1	299	0.0033	296	c.28 others(307): Show c.2843_*2844insTCAGACCCCTCAGGGCAGGACCCCATCCCCCCTC CACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAG GACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCC ACACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAAGGCAGGA CCCCGTACCCCCTCAGACCCCTCAGGGCAGGACCCCGTACCCCCTCAGAC CCCTCAGGGCAGGACCCCATCCCCCCCCCACACCCCTCAGGGCAGGACCC CATCCCCCCCCA		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1192		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(289): Show GTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCACGGATCCTGGGGGTCTGTCCACCGTCCCTGCTGGGAACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0088 a0001c0016t0088	a0001c0016t0088g0053 a0001c0016t0088g0053	1	237	0.0042	296	c.-17 others(307): Show c.-1799_-1798insTCCGTTCCCAGCAGGGACGGTGGACAGACCCCCA GGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCA GCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGG ATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGC AGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGA		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410782	T T	TGCCCCTG others(289): Show TGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGG CCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGG GGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCG TCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCC CGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTGTCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0026 a0001c0002t0019g0026	1	87	0.0115	296	c.-18 others(307): Show c.-1818_-1817insGGTGGACAGACCCCCAGGATCCGTTCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGG CGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGG CCCAGCAGGGGC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1636		chr19	TogoVar
C2CD4C_chr19_400445_414147	410786	C C	CCTGCTGG others(289): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCC TACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGA TCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTG TCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	266	0.0038	296	c.-18 others(307): Show c.-1822_-1821insTGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCAAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATC CGTGCCCAGCAG		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1640		chr19	TogoVar

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