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
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(436): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAAGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAG GGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAG GCGAGGGGAGGGGGAGGGGAAGGCGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19043.hp2 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0129 a0001c0011t0002g0140 a0001c0011t0002g0129 a0001c0011t0002g0140	2	350	0.0057	443	c.248 others(458): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCGCCTTCCCCT CCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTT CCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCAC CCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCT CACCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCC CCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTC CCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCC TCCCCTCCCACCCTTCCACTCCCCTCACTTCCTCCTCCCCCTCCCCTCAC CTCCCCCTCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(436): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAAGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAG GGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAG GCGAGGGGAGGGGGAGGGGAAGGCGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp1 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0192 a0001c0010t0002g0275 a0001c0010t0002g0192 a0001c0010t0002g0275	2	350	0.0057	443	c.248 others(458): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCGCCTTCCCCT CCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTT CCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCAC CCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCT CACCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCC CCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTC CCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCC TCCCCTCCCACCCTTCCACTCCCCTCACTTCCTCCTCCCCCTCCCCTCAC CTCCCCCTCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(436): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGG GGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGGTGTGGGGGCTCCCG TGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTG CGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTG GGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCG CGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTG GGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	286	0.0035	443	c.539 others(458): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACG CCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAG CCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCACGGGAGCCCCCACACCCCCCGCGGACGCCCCCAGAT ACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(436): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGG GGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGT GGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGG GGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGG GGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGC GGGTATCTGGGGGCGTCTGCGGGGGGTGTGGGGGCTCCCGTGGGTATCTG GGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	286	0.0035	443	c.539 others(458): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCCGCAGAC GCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGAT ACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(436): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGG GGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGT GGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGG GGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGG GGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGC GGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGG GGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCC GCGGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03942.hp2 HG01168.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0145 a0001c0001t0002g0141 a0001c0001t0001g0145 a0001c0001t0002g0141	2	286	0.0070	443	c.539 others(458): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGAT ACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(436): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGG GGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGT GGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGG GGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGG GGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGC GGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGG GGGGGCGTCTGCGGGGGTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0030 a0004c0004t0001g0030	1	286	0.0035	443	c.539 others(458): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGAT ACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(436): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGG GGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCG TGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTG CGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTG GGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCG CGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTG GGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	286	0.0035	443	c.539 others(458): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACG CCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAG CCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATA CCCACGGGAGCCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(436): Show GGGGGTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTG GGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCG TGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTG CGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTG GGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCG CGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTG GGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	286	0.0035	443	c.539 others(458): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACG CCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAG CCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATA CCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(436): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGG GCTTCCGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGG GGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCG GGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGG GGGGCGTCTGCGGGGGTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTCC GCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	286	0.0035	443	c.539 others(458): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCCACACC CCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGA CGCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGA TACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGG AGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGG AAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAG ATACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGA CGCCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(436): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGG GGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGGTGTGGG GGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGC GGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGG GGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCC GCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	286	0.0035	443	c.539 others(458): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCCACACCCCCCGCGGACGCCCCCAGATACCCGCGG GAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCAC ACCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGG AAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAG ATACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGA CGCCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431209	T T	TGGGGCTC others(436): Show TGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCC GTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCT GGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCT GCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAAGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	286	0.0035	443	c.539 others(458): Show c.539+484_539+485insCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCTTGCAGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCG CAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCC CCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACC CGCGGACGCCCCCACACCCCCCGCGGACGCCCCCAGATACCCGCGGGAGC CCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAGC CCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATAC CCACGGGAGCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(436): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAAGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	286	0.0035	443	c.539 others(458): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCTTGCAGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCG CAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCC CCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACC CGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCC CCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCC CGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(436): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCCTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0062 a0002c0002t0001g0063	2	286	0.0070	443	c.539 others(458): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAGGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCG CAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCC CCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACC CGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCC CCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCC CGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(436): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(77): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02293.hp2 HG02451.hp1 HG02683.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03834.hp1 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18945.hp1 NA18962.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA18995.hp2 NA18997.hp1 NA19004.hp1 NA19005.hp2 NA19056.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0010 a0012	a0001c0001 a0002c0002 a0004c0004 others(4): Show a0001c0001 a0002c0002 a0004c0004 a0005c0008 a0006c0009 a0010c0014 a0012c0022	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0004c0004t0001 a0005c0008t0001 a0006c0009t0001 a0010c0014t0001 a0012c0022t0001	a0001c0001t0001g0021 a0001c0001t0001g0105 a0001c0001t0001g0107 others(77): Show a0001c0001t0001g0021 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0004g0118 a0001c0001t0004g0119 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0139 a0002c0002t0001g0274 a0002c0002t0002g0025 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0047 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0007g0067 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0053 a0005c0008t0001g0163 a0006c0009t0001g0124 a0010c0014t0001g0064 a0012c0022t0001g0051	80	286	0.2797	443	c.539 others(458): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCG CAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCC CCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACC CGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCC CCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCC CGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1824950	G G	GCCCCGCA others(436): Show GCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CTCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCCG CACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCC CACCTGTCCCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCTGCACCCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0182 a0001c0010t0001g0182	1	363	0.0028	443	c.-48 others(458): Show c.-48+837_-48+838insCCCCGCACCCCACCTGTCCCCTCGCACCCC ACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCC CCACACCCCACCTGTTCACCTCGCACTCCACCTGTCCCCCCGCACTCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCTCCGC ACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGC CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTTCACCCGCACCCCACCTGTCCCACCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCCTGCACCCCCACCTGTTCACCTGCACCCCA CCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCC GCACCCCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(436): Show ATATTATATATATAATCTATATTATATATAATATAGATTATATATATAAT CTATATTATATATATAATCTATATTATATATAATATAGATTATATATATA ATCTATATTATATAATCTATATTATATATAATATAGATTATATATATAAT CTATATTATATAATCTATATTATATATAATATAGATTATATATATAATCT ATATTATATAATCTATATTATATATAATATAGATTATATATATAATCTAT ATTATATAATCTATATTATATATAATATAGATTATATATATAATCTATAT TATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTA TATAATCTATATTATATATAATATAGATTATATATATAATCTATATTATA TAATCTATATTATATATAATATAGATTATATATATAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG02809.hp2 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0330 a0002c0005t0001g0333 a0001c0002t0001g0330 a0002c0005t0001g0333	2	382	0.0052	443	c.37 others(454): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA GATTATATATATAATCTATATTATATATATAATCTATATTATATATAATA TAGATTATATATATAATCTATATTATATAATCTATATTATATATAATATA GATTATATATATAATCTATATTATATAATCTATATTATATATAATATAGA TTATATATATAATCTATATTATATAATCTATATTATATATAATATAGATT ATATATATAATCTATATTATATAATCTATATTATATATAATATAGATTAT ATATATAATCTATATTATATAATCTATATTATATATAATATAGATTATAT ATATAATCTATATTATATAATCTATATTATATATAATATAGATTATATAT ATAATCTATATTATATAATCTATATTATATATAATATAGATTATATATAT AATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(436): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0067 a0001c0004t0001g0067	1	391	0.0026	443	c.36 others(454): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC TGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(436): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTC TTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCC ACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCCCCACTCCT CTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	328	0.0031	443	c.178 others(458): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGGGGAGGAGTGGG GGGAGTGGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATGAGGAGT GGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTGGGGGAGGA GTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGGGAGGAGT GGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGAGGGGGAG GAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGAGTAGGGG AAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGG GAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C2CD4C_chr19_400445_414147	410833	A A	ACGGATCC others(436): Show ACGGATCCTGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCC CCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGATC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0005 a0003c0017t0005	a0003c0017t0005g0170 a0003c0017t0005g0170	1	322	0.0031	443	c.-18 others(454): Show c.-1869_-1868insGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCC GTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGG GCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGT GCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCC CAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1687		chr19	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(436): Show ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0003 a0004c0025t0003	a0004c0025t0003g0278 a0004c0025t0003g0278	1	410	0.0024	443	c.-22 others(460): Show c.-22-2109_-22-2108insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(436): Show ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0003 a0004c0025t0003	a0004c0025t0003g0284 a0004c0025t0003g0284	1	410	0.0024	443	c.-22 others(460): Show c.-22-2109_-22-2108insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGTCTCCCCCAC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC77_chr12_396644_447642	421527	A A	AAACACAC others(436): Show AAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGT TCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA TACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTT CCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATA CACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATGCTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0066 a0003c0003t0001g0066	1	432	0.0023	443	c.413 others(460): Show c.413+2893_413+2894insCACACATAGCAGCACACTCCATGTTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATGCTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTCCATTACA GTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACACAT AGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(436): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTGTATATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTTTATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	396	0.0025	443	c.349 others(458): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTGTATATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATACTATATATACTATATA TAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(436): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TAAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTTTATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	396	0.0025	443	c.349 others(458): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA AACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATACTATATATACTATATA TAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(436): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTTTATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(42): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG02451.hp1 HG02602.hp2 HG02683.hp2 HG02897.hp2 HG03579.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp2 NA18995.hp2 NA19004.hp2 NA19012.hp2 NA19043.hp1 NA19058.hp2 NA19064.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016 a0006c0017 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0023 a0001c0002t0003 a0001c0005t0001 a0001c0016t0013 a0006c0017t0001 a0008c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0021 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0184 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0316 a0001c0001t0001g0340 a0001c0001t0001g0355 a0001c0001t0002g0064 a0001c0001t0002g0150 a0001c0001t0002g0204 a0001c0001t0013g0247 a0001c0001t0023g0271 a0001c0002t0003g0056 a0001c0002t0003g0251 a0001c0005t0001g0010 a0001c0005t0001g0136 a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0001g0182 a0001c0016t0013g0270 a0006c0017t0001g0059 a0008c0013t0001g0373	45	396	0.1136	443	c.349 others(458): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATACTATATATACTATATA TAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCCTCC others(436): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	256	0.0039	443	c.-45 others(464): Show c.-455+14573_-455+14574insCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCT CCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(436): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0208 a0001c0001t0010g0208	1	256	0.0039	443	c.-45 others(464): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(436): Show CGTATATATACTCATATACATGTGTATATATTACACGTATATATACTCAT ATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATAT ACACGTATATATACTCATATACATGTGTATATATACACGTATATATACTC ATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATAT ATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATAC TCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTAT ATATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATAT ACTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGT ATATATACGTGTATATATACTCATATACATGTGTATATATACGT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	372	0.0027	443	c.894 others(458): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACACGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTAATATATACACATGTATA TGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(436): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTC CCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCT CCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0027 a0001c0001t0020g0027	1	270	0.0037	443	c.162 others(464): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(436): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTC CCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCT CCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19065.hp1 HG01081.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0101 a0001c0001t0020 a0001c0001t0101	a0001c0001t0020g0054 a0001c0001t0101g0101 a0001c0001t0020g0054 a0001c0001t0101g0101	2	270	0.0074	443	c.162 others(464): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(436): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTTCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTC CCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCT CCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0110 a0001c0001t0102g0110	1	270	0.0037	443	c.162 others(464): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTTCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(436): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTC CCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCT CCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	270	0.0037	443	c.162 others(464): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(436): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGG GACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGG GAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAG AGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAA GGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAAGGGA AGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAAGG GGAGGAGGGGGAGGGGAGGGCAGGGGGGAGGGGAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0086 a0001c0002t0001g0087	2	308	0.0065	443	c.637 others(458): Show c.637+147_637+148insTGCCCTCCCCTCCCCTCCCCCCTGCCCTCC CCTCCCCCTCCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTC CCCTTCCCTCCCCTTCCCTTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCT CCCCTTCCCTCCCCTTCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCC CTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCC TTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCTCCCCTCCCCC TCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCT TCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(436): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGG GGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGG GGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGG GATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGA AGGGGAGGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGG AAGGGGAGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAAG GGGAGGGGAGGGGAGGGGAAGGGGAGGAGGGGGAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	308	0.0033	443	c.637 others(458): Show c.637+147_637+148insTGCCCTCCCCTCCCCCTCCTCCCCTTCCCC TCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTCC CCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCC CCTTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCC CTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCC TCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCC TCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(436): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG CAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAG GCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	344	0.0029	443	c.85- others(460): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCC TTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTT CCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CUX2_chr12_111029165_111355554	111325963	T T	TGGGGGAG others(436): Show TGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGG TTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGT GGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTG GGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGT GTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTTTATAGT GTTGCGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTGGGGTGGGGGAG GGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTT ATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03516.hp1 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0047 a0001c0002t0001g0048	2	100	0.0200	443	c.292 others(462): Show c.2926+3385_2926+3386insGGGAGGGGTGGGTTTTGTTTATAGTG TTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAG TGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGA GGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTGTTTATA GTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGG AGGGGTGGGTTTGTTTATAGTGTTGCGGTGGGGGAGGGGTTGGTTTTGTT TATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTG GGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTT TGTTTATAGTGTTGCGG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	608556	C C	CACACACA others(436): Show CACACACACACACACACACCCCCCCCCCACACACACACACACCCCCCCCC CACACACACACACACCCCCCCACACACACACACACACCCCCCCCACACAC ACACCCCCCCCCACACACACACCCCCCCCACACACACACACCCCCCCCAC ACACACACACCCCCCCCCACACACACACACCCCCCCCCACACACACATCC CCCCACACACACACACACACCCCCCCCCACACACACACACACCCCCCCCC ACACACACACACATCCCCCCCCCACACACACACACATCCCCCCCCCACAC ACACACACATCCCCCCCCACACACACACACATCCCCCCCCCCCACACACA CACATCCCCCCCCCACACACACACACATCCCCCCCCCACACACACACATC CCCCCCCACACACACACACATCCCCCCCACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	88	0.0114	443	c.85+ others(460): Show c.85+80937_85+80938insATGTGTGTGTGTGTGTGGGGGGGATGTG TGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGGATGTGTGTGTGT GTGGGGGGGGGATGTGTGTGTGTGGGGGGGGGGGATGTGTGTGTGTGTGG GGGGGGATGTGTGTGTGTGTGGGGGGGGGATGTGTGTGTGTGTGGGGGGG GGATGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGGGGGGGGGTGT GTGTGTGTGTGTGGGGGGATGTGTGTGTGGGGGGGGGTGTGTGTGTGTGG GGGGGGGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGGGTGTGT GTGTGGGGGGGGGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTGTGGGGG GGTGTGTGTGTGTGTGGGGGGGGGGTGTGTGTGTGTGTGGGGGGGGGGTG TGTGTGTGTGTGTGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DPEP1_chr16_89608642_89643433	89634818	C C	CCCTTCCT others(436): Show CCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCT TCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCC TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	250	0.0040	443	c.105 others(460): Show c.105-1088_105-1087insTTCCTTCCCTTTCCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATCC others(436): Show CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACC CCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACC ATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCC CCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCC CTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAT CACCACCATCCCCATCCACACCCCCTACCACCATCCTCACCACCATCCCC ATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCT ACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCA CCACCATCCCCATACACACCCCCTACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	250	0.0040	443	c.259 others(462): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGG TGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
FBXL16_chr16_687500_710801	707677	A A	ACCCCCCA others(436): Show ACCCCCCACCTCTGTCACCAGCTGTGACCCACCGGCCCTCCACCTCTGTG ACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCAC CTACCCTCCACCTCTGTGACCAGCTGTGACCCACCTACCCTCCACCTCTG TGACCAGCTGTGACCCACCTACCCTCCACCTCTGTGACCAGCTGTGACCC ACCTACCCTCCACCTCTGTCACCAGCTGTGACCCACCGGCCCTCCACCTC TGTGACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGAC CCACCTACCCTCCACCTCTGTGACCAGCTGTGGACCCACCTACCCTCCAC CTCTGTGACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGT GACCCACCGGCCCTCCACCTCTGTGACCAGCTGTGACCCACCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	372	0.0027	443	c.-21 others(454): Show c.-2181_-2180insCAGGTGGGTCACAGCTGGTCACAGAGGTGGAGGG CCGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGTCACAGCT GGTCACAGAGGTGGAGGGTAGGTGGGTCCACAGCTGGTCACAGAGGTGGA GGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGTCACA GCTGGTCACAGAGGTGGAGGGCCGGTGGGTCACAGCTGGTGACAGAGGTG GAGGGTAGGTGGGTCACAGCTGGTCACAGAGGTGGAGGGTAGGTGGGTCA CAGCTGGTCACAGAGGTGGAGGGTAGGTGGGTCACAGCTGGTCACAGAGG TGGAGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGT CACAGCTGGTCACAGAGGTGGAGGGCCGGTGGGTCACAGCTGGTGACAGA GGTGGGGGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding		1877		chr16	TogoVar
FLT4_chr5_180596506_180654600	180615442	G G	GCCCACCG others(436): Show GCCCACCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGGCCCG CCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACT GGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCC GCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGG TCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACC TCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCG CTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTAGGAGCACT GGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCC CCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00741.hp1 HG01069.hp2 others(43): Show HG00621.hp2 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02300.hp1 HG02602.hp2 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG04204.hp1 HG04228.hp1 NA18995.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0019 a0024	a0001c0001 a0001c0006 a0001c0031 others(6): Show a0001c0001 a0001c0006 a0001c0031 a0001c0043 a0002c0003 a0002c0004 a0003c0005 a0019c0040 a0024c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0006t0001 a0001c0031t0016 a0001c0043t0002 a0002c0003t0002 a0002c0004t0005 a0003c0005t0001 a0019c0040t0002 a0024c0026t0002	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(43): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0299 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0208 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0297 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0006g0051 a0001c0001t0006g0122 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0188 a0001c0001t0006g0209 a0001c0001t0006g0234 a0001c0001t0006g0292 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0363 a0001c0001t0010g0368 a0001c0001t0016g0262 a0001c0006t0001g0158 a0001c0006t0001g0359 a0001c0031t0016g0021 a0001c0043t0002g0230 a0002c0003t0002g0291 a0002c0004t0005g0026 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0005t0001g0058 a0003c0005t0001g0152 a0003c0005t0001g0160 a0003c0005t0001g0175 a0003c0005t0001g0176 a0019c0040t0002g0046 a0024c0026t0002g0308	46	388	0.1186	443	c.321 others(460): Show c.3219+924_3219+925insGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAG GTGACCAGCGGGACCCAGTGCTCCTAAAGGAAGTGGATTTCGGAAGTGGA GAAGGGAGGTGACCAGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTC GGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAG TGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAG AAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGA GGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCGGAAGTGGA GAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCGAAAGGAAGTGGAGAAGG GAGGTGACCGGTGGG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXJ2_chr12_8027716_8060517	8045417	T T	TGTTGGCC others(436): Show TGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCT TGGCCACCCAAAGTGTTGGAATTACAGGCATGAGTCACTGTGCCTGGCTT AAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCTGGGCTG GTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTTCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCATATTTCTTTCTTTA TTTTTTTGAGGCACAGTTTCGCTCTTTGTTGCTCAGGCTAGAGAGCAGTG TCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCAATTCT TCTGTCTCAGCCTCCCAATTAGCTGGGATTACAGGCTCCCGCCACCACGC CTGGCTAATTTTTATATTTCTTAGTAGAGACGGAGTTTCACCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02630.hp1 others(1): Show HG02055.hp1 HG02258.hp1 HG02630.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0059	4	374	0.0107	443	c.817 others(458): Show c.817+477_817+919dupCGAACTCCTGACCTCAGGTGATCTGCCTGC CTTGGCCACCCAAAGTGTTGGAATTACAGGCATGAGTCACTGTGCCTGGC TTAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCTGGGC TGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTTCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCATATTTCTTTCTT TATTTTTTTGAGGCACAGTTTCGCTCTTTGTTGCTCAGGCTAGAGAGCAG TGTCGCGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCAATT CTTCTGTCTCAGCCTCCCAATTAGCTGGGATTACAGGCTCCCGCCACCAC GCCTGGCTAATTTTTATATTTCTTAGTAGAGACGGAGTTTCACCACGTTG GCCAGGCTGGTCT	FOXJ2	ENSG00000065970.9	transcript	ENST00000162391.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(436): Show AGGCTGGGGAGACTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGG GCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGGCAGGCTGAG GAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGGGAGGCTGGG GAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGGGGGGCTAGG AGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0003 a0004c0004t0012g0003	1	236	0.0042	443	c.148 others(460): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCCCCACCTCCCCAGCCTCCCCAGCAC CCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCTTCCCAGCCC CCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCC CCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCCCAGCCTCCC CAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCCCCAACCTCC CCAGTCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(436): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGGTGCTGGGCAGGCTGAG GAGGTGGGGAGGCTGGGGGGGCAAGGGGTGGGGGAGGTAGGGAGGCTGGG GAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGGGGGGCTAGG AGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTGGGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02809.hp1 HG02895.hp2 others(2): Show HG01943.hp2 HG02809.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp1	a0002 a0004 a0022 a0002 a0004 a0022	a0002c0002 a0004c0004 a0022c0042 a0002c0002 a0004c0004 a0022c0042	a0002c0002t0002 a0004c0004t0003 a0004c0004t0008 others(1): Show a0002c0002t0002 a0004c0004t0003 a0004c0004t0008 a0022c0042t0002	a0002c0002t0002g0137 a0004c0004t0003g0039 a0004c0004t0003g0040 others(2): Show a0002c0002t0002g0137 a0004c0004t0003g0039 a0004c0004t0003g0040 a0004c0004t0008g0016 a0022c0042t0002g0157	5	236	0.0212	443	c.148 others(460): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCG CCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCTCCCCAGCAC CCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCTTCCCAGCCC CCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCC CCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCCCAGCCTCCC CAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCCCCAACCTCC CCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(436): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATTTATTTATATATATATAAATATATATATTTATATTTATTTCTATA TATAAATATATATTTATATATATAAATATATATATTTATATATATAAATA TATATATTTATATATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0025 a0001c0003t0002g0025	1	208	0.0048	443	c.-97 others(460): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATATTTATATTTATTTC TATATATAAATATATATTTATATATATAAATATATATATTTATATATATA AATATATATATTTATATATATTTATATTTATATATATTTATATATATTTA TATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HSD17B14_chr19_48808018_48841491	48835084	C C	CTGGACTC others(436): Show CTGGACTCCTGGGTCTCAGGGAGGAGGGGTTGGGGACTTGGACTCCTGGG TCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCC GAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGG CTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	394	0.0025	443	c.127 others(458): Show c.127+720_127+721insAGCCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCC CTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGA GTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCA GGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCT CAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGT CCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCA CCTCCTCCCTCAGACCCAGGAGTCCAAGTCCCCAACCCCTCCTCCCTGAG ACCCAGGAGTCCA	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(436): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATATATGGAATATATATACGGAATGTATATATATGGAATATATATACGG AATGTATATATATGGAATATATATACGGAATGTATATATATGGAATATAT ATACGGAATGTATATATATGGAATATATATACGGAATGTATATATATGGA ATATATATACGGAATGTATATATATGGAATATATATACGGAATGTATATA TATGGAATATATATACGGAATGTATATATATGCAATATATATATACGGAA TATATATATGCAATATATATATATGGAATATATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0102 a0003c0003t0009g0102	1	323	0.0031	443	c.-21 others(454): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATATATGGAATATATATACGGAATGTATATATAT GGAATATATATACGGAATGTATATATATGGAATATATATACGGAATGTAT ATATATGGAATATATATACGGAATGTATATATATGGAATATATATACGGA ATGTATATATATGGAATATATATACGGAATGTATATATATGGAATATATA TACGGAATGTATATATATGGAATATATATACGGAATGTATATATATGCAA TATATATATACGGAATATATATATGCAATATATATATATGGAATATATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323368	G G	GAATATAT others(436): Show GAATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TATGGAATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATG GAATATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGTATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATGGAATATAGAGATGGAATATAGAGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	323	0.0031	443	c.-16 others(454): Show c.-1688_-1687insAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATATAT GGTATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATGGAATATATATATGGAATATAGAGATGGAATAT AGAGATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1601		chr21	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(436): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAG GAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAG GAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	282	0.0036	443	c.290 others(462): Show c.2908-3810_2908-3809insCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT TCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCC TTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCC TCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTC CCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTT CCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATACATA others(436): Show TATACATATATAAATATATAAATATATAAATATATACATATATAAATATA TGAATATATAAAATACATAAATATATAAATATATATAAATAAATATATAA ATATATACAAATATATAAATAAATATATAAATATATAAATATAAATATAT ATTTATAGATATATAGATTTTACGTTTAAAATATATATTTTATAGATTTT ATATTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATA TATTTTATACATAAAATATAATATATAAAATATATAAATCATATAAAATT TATATTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTAT ATATTATATATTATTATGTTATATATTATATATTATTATATTATATATAT TATAATATGTATTATATTATATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03195.hp2 HG03453.hp1 HG02451.hp2 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0019 a0001c0001t0012 a0001c0001t0019	a0001c0001t0012g0343 a0001c0001t0012g0345 a0001c0001t0019g0341 a0001c0001t0012g0343 a0001c0001t0012g0345 a0001c0001t0019g0341	3	389	0.0077	443	c.-51 others(454): Show c.-5160_-5159insATACATATATAAATATATAAATATATAAATATAT ACATATATAAATATATGAATATATAAAATACATAAATATATAAATATATA TAAATAAATATATAAATATATACAAATATATAAATAAATATATAAATATA TAAATATAAATATATATTTATAGATATATAGATTTTACGTTTAAAATATA TATTTTATAGATTTTATATTTAAAATATATATTTATAGATTTTATATTTA AAAATATATTTTATATATTTTATACATAAAATATAATATATAAAATATAT AAATCATATAAAATTTATATTTTATGTATAAATATAAATGAATATAAAAA TATATTATATGTTATATATTATATATTATTATGTTATATATTATATATTA TTATATTATATATATTATAATATGTATTATATTATATATTATATAATATA AAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar

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