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
NEU4_chr2_241804193_241822413	241807809	C C	CTCCCTCC others(273): Show CTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTT CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACCTCTGCAGGCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	319	0.0031	280	c.-14 others(291): Show c.-1469_-1468insTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACC TCCGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1383		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532183	A A	ACCCCTCG others(273): Show ACCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0313 a0001c0014t0007g0313	1	322	0.0031	280	c.46 others(291): Show c.4606_*4607insCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGT CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2861		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(273): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	322	0.0031	280	c.46 others(291): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(273): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03225.hp2 HG02886.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0035 a0001c0017t0009 a0001c0005t0035 a0001c0017t0009	a0001c0005t0035g0276 a0001c0017t0009g0128 a0001c0005t0035g0276 a0001c0017t0009g0128	2	322	0.0062	280	c.46 others(291): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(273): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	322	0.0031	280	c.46 others(291): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532211	C C	CTGCAGCC others(273): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0062 a0001c0008t0002g0062	1	322	0.0031	280	c.46 others(291): Show c.4634_*4635insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2889		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532217	C C	CCCCCCGC others(273): Show CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0193 a0002c0003t0004g0193	1	322	0.0031	280	c.46 others(291): Show c.4640_*4641insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCC CGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2895		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532251	C C	CTGCAGCC others(273): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	322	0.0031	280	c.46 others(291): Show c.4674_*4675insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2929		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532257	T T	TCCCCCGC others(273): Show TCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA19002.hp1 NA18999.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0017 a0001c0001t0020 a0002c0002t0017	a0001c0001t0020g0202 a0002c0002t0017g0158 a0001c0001t0020g0202 a0002c0002t0017g0158	2	322	0.0062	280	c.46 others(291): Show c.4680_*4681insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2935		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532268	T T	TCGGCAGA others(273): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0006 a0006	a0006c0039 a0006c0039	a0006c0039t0001 a0006c0039t0001	a0006c0039t0001g0241 a0006c0039t0001g0241	1	322	0.0031	280	c.46 others(291): Show c.4691_*4692insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2946		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532268	T T	TCGGCAGA others(273): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0043 a0002c0012t0043	a0002c0012t0043g0044 a0002c0012t0043g0044	1	322	0.0031	280	c.46 others(291): Show c.4691_*4692insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2946		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532291	C C	CTGCAGTC others(273): Show CTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0285 a0001c0018t0007g0285	1	322	0.0031	280	c.47 others(291): Show c.4714_*4715insTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCC CCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2969		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(273): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCTCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0159 a0002c0002t0013g0159	1	322	0.0031	280	c.47 others(291): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(273): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0099 a0001c0004t0006g0099	1	322	0.0031	280	c.47 others(291): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(273): Show CTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	322	0.0031	280	c.47 others(291): Show c.4754_*4755insTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(273): Show CTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0021 a0021	a0021c0049 a0021c0049	a0021c0049t0006 a0021c0049t0006	a0021c0049t0006g0102 a0021c0049t0006g0102	1	322	0.0031	280	c.47 others(291): Show c.4754_*4755insTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(273): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTCTTTCCGCAGCCCACCTTCTCCCGCAGCCCA CCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCC CACCTTCTCCTGAAGCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	366	0.0027	280	c.-16 others(301): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTTCCGCA GCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCG CAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTCCC TGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678155	A A	ATCCATCC others(273): Show ATCCATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCAT CCACCTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTC CGTCCGTCCGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCA TTCAGCCATCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTT CCATCCATCCATTCATTAGTTTATCCATCCCCATCCATCCATCCATCCAT CCATCCATCCCTCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG02027.hp2 HG00558.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0081 a0001c0001t0045g0146 a0001c0001t0045g0081 a0001c0001t0045g0146	2	366	0.0055	280	c.55 others(289): Show c.553_*554insTTGTCCATCCATCCATCCACCTATCCATCCATCCGT CCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCGTCCATCCATC CATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCA TCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGT TTATCCATCCCCATCCATCCATCCATCCATCCATCCATCCCTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	554	INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850492	A A	AGACTGCG others(273): Show AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGT GTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCG TAGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGGGATTTCCGT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0369 a0001c0001t0005g0369	1	424	0.0024	280	c.-65 others(297): Show c.-65-1523_-65-1522insACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCG TAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTCCG TG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850503	T T	TGATTTCC others(273): Show TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGA GACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTG TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGT AGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTG TGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGA GACTGCGGTGTGATTTCCGAGACTGCGGTGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0410 a0002c0002t0010g0410	1	424	0.0024	280	c.-65 others(297): Show c.-65-1513_-65-1512insGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGT GTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850503	T T	TGATTTCC others(273): Show TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGA GACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTG TGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGT AGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTG TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGA GACTGCGGTGGGATTTCCGTGACTGCGGTGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0371 a0002c0003t0005g0371	1	424	0.0024	280	c.-65 others(297): Show c.-65-1513_-65-1512insGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG TAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGT GTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTCCGTGACTGCGGT GG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851112	T T	TGGCTGCG others(273): Show TGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACG AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGT GTACTTCCCGAGGCTGCGGTGTAATGTCCGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0009 a0002c0018t0009	a0002c0018t0009g0382 a0002c0018t0009g0382	1	424	0.0024	280	c.-65 others(295): Show c.-65-870_-65-869insGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTACT TCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851368	T T	TACGAGGC others(273): Show TACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGAGGCTG CGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATT TCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGAGGCTG CGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATG TCCGTGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTG CGGTGTAATTCCCGAGGCTGCGGTGTAATTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0007 a0002c0009t0007	a0002c0009t0007g0405 a0002c0009t0007g0405	1	424	0.0024	280	c.-65 others(295): Show c.-65-648_-65-647insACGAGGCTGCGGTGTAATTTACGAGGCTGC GGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGT CCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTACGAGGCTGC GGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGT CCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTACTTCCCGAGGCTGC GGTGTACTTCCCGAGGCTGCGGTGTAATTCCCGAGGCTGCGGTGTAATTC	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NME4_chr16_392199_405754	397740	G G	GGGGGGGG others(273): Show GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGGGTGGGAGGGTGAGGGAGTCAGGGGGTGGGGGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	356	0.0028	280	c.91+ others(293): Show c.91+432_91+433insGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGGTGGGAGGGTGAGGGAGTCAGGGG GTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGG GTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397740	G G	GGGGGGGG others(273): Show GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGGTGGGAGGGTGAGGGAGTCAGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGGGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	356	0.0028	280	c.91+ others(293): Show c.91+432_91+433insGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGGGAGGGTGAGGGAGTCAGGGGG TGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NR0B1_chrX_30299206_30314390	30310831	T T	TTCCTTCC others(273): Show TTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	322	0.0031	280	c.-14 others(291): Show c.-1469_-1468insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGGA	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		1442		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30310831	T T	TTCCTTCC others(273): Show TTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	322	0.0031	280	c.-14 others(291): Show c.-1469_-1468insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGGA	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		1442		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30310831	T T	TTCCTTTC others(273): Show TTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG03195.hp1 HG02280.hp2 HG02647.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0034	3	322	0.0093	280	c.-14 others(291): Show c.-1469_-1468insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGA	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		1442		chrX	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(273): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTATA TATATAATATATATAATATATATTATATATATAAAGTATATATATAATAT ATATAATATATATTATATATAAAGTATATATATAATATATATTATATATA TAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0208 a0002c0004t0001g0208	1	308	0.0033	280	c.730 others(297): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATAATATATATTATATATATACTTTATATATAATATATATTA TATATATTATATATATACTTTATATATATAATATATATTATATATATTAT ATATATACTTTATATATATAATATATATTATATATATTATATATATACTT TATATATATAATATATATTATATATATTATATATATACTTTATATATAAT ATATATTATATATATTATATATATACTTTATATATATAATATATATTATA TA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(273): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0341 a0003c0003t0004g0341	1	360	0.0028	280	c.-30 others(291): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
OBI1_chr13_78609289_78664155	78659323	A A	AGAGAAAG others(273): Show AGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA AGAAAGAAAAGAAAAGAAAGAAAGAAAGAGAAAGAAGAAAGAAGGAAGAA GGAAGAAAGGAAGGAAGGAAGGAGAAGGAAGGAAGGAAGGAAGGAAGGAG GAAGGAAAGAAAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0011 a0011	a0011c0005 a0011c0005	a0011c0005t0002 a0011c0005t0002	a0011c0005t0002g0027 a0011c0005t0002g0027	1	296	0.0034	280	c.-20 others(289): Show c.-204_-203insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTTCTTTCCTTCCTCCT TCCTTCCTTCCTTCCTTCCTTCTCCTTCCTTCCTTCCTTTCTTCCTTCTT CCTTCTTTCTTCTTTCTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTTCT TTCTTTCTTTCTTTCTTTCTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		169		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(273): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	296	0.0034	280	c.-20 others(289): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(273): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTACAT ATATTTATAAATATAGATATATCTATATTTACATATATATATAAATATAG ATATATCTATATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01071.hp1 HG00323.hp2 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0382 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0001t0002g0382 a0001c0002t0003g0232 a0001c0002t0003g0233	3	418	0.0072	280	c.553 others(295): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTAC ATATATTTATAAATATAGATATATCTATATTTACATATATATATAAATAT AGATATATCTATATATATATTTATAAATATAGATATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(273): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATATATATATAGATATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTACATAT ATTTATAAATATAGATATATCTATATTTACATATATATATATAAATATAG ATATATCTATATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18953.hp2 NA18960.hp1 others(3): Show NA18948.hp2 NA18953.hp2 NA18960.hp1 NA18973.hp2 NA19066.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0296 a0001c0001t0002g0298 others(2): Show a0001c0001t0002g0010 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0376 a0001c0001t0002g0395	6	418	0.0144	280	c.553 others(295): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATATATATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTACAT ATATTTATAAATATAGATATATCTATATTTACATATATATATATAAATAT AGATATATCTATATATATATTTATAAATATAGATATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR11H4_chr14_20234286_20249349	20237646	A A	ATATACTA others(273): Show ATATACTATATAGTATATATAGTATATAGTATATATAGTATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATACTCTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	439	0.0023	280	c.-16 others(291): Show c.-1697_-1696insTATACTATATAGTATATATAGTATATAGTATATA TAGTATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1639		chr14	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(273): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCCGATG GGGCGGGTGGCCGGGCGGGGGGCTGACCGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0185 a0001c0001t0006g0185	1	186	0.0054	280	c.242 others(297): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCG GGTGGCCGGGCGGGGGGCTGACCGCCCCCCCCCACCTCCCTCCCGGACGG GG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(273): Show CTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0215 a0001c0003t0003g0215	1	366	0.0027	280	c.487 others(297): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTGCTTTCTTG CTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCT TGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTG CTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGTT TT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(273): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGG GAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGG GAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGA GGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	302	0.0033	280	c.155 others(297): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCTTC CC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196811306	T T	TTCCCTCC others(273): Show TTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTTC CTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCT TTCCTTCCTTTCCTTCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02074.hp1 HG00558.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0008 a0001c0001t0001g0024	2	178	0.0112	280	c.773 others(295): Show c.773+658_773+659insCCCTTCCTTCCCTTCCCTCCCTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTC CTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTCCC TTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCC TTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TTCTCCCC others(273): Show TTCTCCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCC TCCCCTCCCCCTCCTCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCTCCCC CTCCTCCCCTTCCTCCCCCTCCCCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCC TCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCTCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0299 a0001c0001t0037g0299	1	308	0.0033	280	c.226 others(299): Show c.2262+7524_2262+7525insTCTCCCCCCTCCCCTCCCCCTCCTCC CCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCTCCCCTCCC CCTCCTCCCCTTCCTCCCTCCCCCTCCTCCCCTTCCTCCCCCTCCCCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCC CTCCACTCCCCTTCCCCTCCCCCTCCACTCCCCTTCCCCTCCCCTCCACT CCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCTTCCCCTCCC CTCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19			chr10	TogoVar
PAXBP1_chr21_32728899_32776755	32738401	T T	TGAAATAC others(273): Show TGAAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	360	0.0028	280	c.233 others(295): Show c.2335-83_2335-82insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCTGCTGTATTTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding	15/17			chr21	TogoVar
PCDH7_chr4_30715369_31151800	31094804	T T	TAAAAACA others(273): Show TAAAAACATTCCAGTTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0034 a0001c0005t0034	a0001c0005t0034g0105 a0001c0005t0034g0105	1	214	0.0047	280	c.339 others(301): Show c.3392-47653_3392-47652insCTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACATTC CAGTTA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAC others(273): Show CGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATACATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0019 a0002c0003t0003g0019	1	436	0.0023	280	c.-26 others(291): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATGTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(273): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATACATGT ATCTATCGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0019 a0002c0003t0003g0019	1	436	0.0023	280	c.-26 others(291): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCGATAGATACA TGTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(273): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	280	c.-26 others(291): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(273): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	280	c.-26 others(291): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(273): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03540.hp2 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	436	0.0046	280	c.-26 others(291): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(273): Show TTCCCTCCCCTCTCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTGCCCTCCCCCTCCCTTCCCCTGCCCTCCCCCTCCCCCTCC CCTCCCCACTTCCCCTCCCCCTCCCCTGCCCTCCTCCTCCCCCTCCCTCA TCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCCCCCCCCTCCCC CTCCCCTCCCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0008 a0006c0020t0001g0008	1	336	0.0030	280	c.-37 others(291): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGGGAGGGGAGGGG GAGGGGGGGGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGA GGGAGGGGGAGGAGGAGGGCAGGGGAGGGGGAGGGGAAGTGGGGAGGGGA GGGGGAGGGGGAGGGCAGGGGAAGGGAGGGGGAGGGCAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGAGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDCD6_chr5_266646_319974	309615	T T	TGGCCGCC others(273): Show TGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGT GCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGT CCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGC CGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACACCAGT GATGGCCGCCGTCCCCGTGCAACCCAGTGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG03195.hp1 HG02886.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171	3	360	0.0083	280	c.368 others(297): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACACCA GTGATGGCCGCCGTCCCCGTGCAACCCAGTGAGGGCCGCCGTCCCCGTGC AC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309747	C C	CCCAGTGA others(273): Show CCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCC GTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCA GTGATGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGC ACCCCAGTGAGGGCCGCCGTCCCCGTGCACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	360	0.0028	280	c.368 others(297): Show c.368-1539_368-1538insGGGCCGCCGTCCCCGTGCACCCCAGTGA GGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGT GCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGT CCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGAGGGC CGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACACCAGT GA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar

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