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
MVP_chr16_29815462_29853021	29843558	G G	GAGGGAGG others(383): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGA GTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAAGGAAG GGAGGGAGGGAGGGGAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTG AAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGG AGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0041 a0001c0014t0002g0041	1	223	0.0045	390	c.163 others(407): Show c.1635-912_1635-911insGAGGAAGGGAGGGAGGGAGGGAGGGAGT GAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGT GAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGG AGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAAGGAAGGG AGGGAGGGAGGGGAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAA GGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAG GGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGAAGGGAGGGAGG GAGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(383): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCT CTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTTCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCTTC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0194 a0001c0001t0012g0194	1	32	0.0313	390	c.289 others(407): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTC CCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTC CCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCC CTCTCCCTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEGR1_chr1_71390943_72287539	71928145	C C	CACACATA others(383): Show CACACATATGTATATATACACACATATGTGTATATATACACACATATGTA TATATACACATATGTATATATGTATATATACACACATATGTGTATATACA CATATGTATATATGTATATATACACACATATGTGTATATACACATATGTA TATATGTATATATACACACATATGTGTATATACACATATGTATATATGTA TATATACACACATATGTGTATATACACATATGTATATATGTATATATACA CACATATGTGTATATACACATATGTATATATGTATATATACACACATATG TGTATATACACATATGTATATATGTATATATACACACATATGTGTATATA CACATATGTATATATGTATATATACACACATATGTGTATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp2 NA20300.hp1 HG03516.hp2 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0024 a0001c0001t0001 a0001c0001t0011 a0001c0001t0024	a0001c0001t0001g0011 a0001c0001t0011g0012 a0001c0001t0024g0052 a0001c0001t0001g0011 a0001c0001t0011g0012 a0001c0001t0024g0052	3	64	0.0469	390	c.409 others(407): Show c.409+6933_409+6934insATATACACATATGTGTGTATATATACAT ATATACATATGTGTATATACACATATGTGTGTATATATACATATATACAT ATGTGTATATACACATATGTGTGTATATATACATATATACATATGTGTAT ATACACATATGTGTGTATATATACATATATACATATGTGTATATACACAT ATGTGTGTATATATACATATATACATATGTGTATATACACATATGTGTGT ATATATACATATATACATATGTGTATATACACATATGTGTGTATATATAC ATATATACATATGTGTATATACACATATGTGTGTATATATACATATATAC ATATGTGTATATATACATATGTGTGTATATATACACATATGTGTGTATAT ATACATATGTGT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241807888	T T	TCCCTCCC others(383): Show TCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCA GGGACCTCGGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	303	0.0033	390	c.-13 others(401): Show c.-1390_-1389insCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCC TCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGC AGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1304		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807931	T T	TCCCTCCC others(383): Show TCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGAACCTCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0035	390	c.-13 others(401): Show c.-1347_-1346insCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCACTCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGC AGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1261		chr2	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(383): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGT CGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	390	c.91+ others(403): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(383): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0085 a0001c0001t0008g0085	1	8	0.1250	390	c.175 others(411): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108163992	G G	GGGGTAAT others(383): Show GGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGA GAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGT GGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC TGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGA GAGGTCATACCAGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGG TGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATA CCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18961.hp1 NA18950.hp1 NA18961.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0021 a0001c0003t0004 a0001c0003t0021	a0001c0003t0004g0206 a0001c0003t0021g0114 a0001c0003t0004g0206 a0001c0003t0021g0114	2	189	0.0106	390	c.346 others(409): Show c.3466+2928_3466+2929insACCCCACCCAGTATGACCTCTCACTA CCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGA CCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCC ACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCATT ACCCCACCCCACCCAGTATGACCTCTCACTACCCCACCCCACCTGGTATG ACCTCTCATTACCCCACCCCACCCAGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCATT ACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATG ACCTCTCATTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(383): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCA CCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTC CCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCT TCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18942.hp2 NA18947.hp2 others(1): Show HG03471.hp2 NA18942.hp2 NA18947.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0070 a0001c0001t0103 a0001c0001t0002 a0001c0001t0070 a0001c0001t0103	a0001c0001t0002g0035 a0001c0001t0070g0160 a0001c0001t0103g0192 a0001c0001t0002g0035 a0001c0001t0070g0160 a0001c0001t0103g0192	4	209	0.0191	390	c.433 others(407): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(383): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0024 a0001c0001t0015g0024	1	30	0.0333	390	c.433 others(407): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGA GGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGGAGGGA others(383): Show GGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGAGAGGGAGG GAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGAGGGA GAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGA GGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAG AGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAG GGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAG GGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGG AGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0364 a0001c0002t0001g0364	1	168	0.0060	390	c.92 others(401): Show c.9222_*9223insTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCT TCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATC CCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTC CCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTC TCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACC CCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCC CTCCCTCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCC CCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCT CCCTCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NTM_chr11_131365615_132341822	131681333	G G	GTGTTTCT others(383): Show GTGTTTCTGTGTCTGTATGTCTCCCTGTGTGAGCATGTGTGTTTCTGTGT CTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGT ATGTCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCC TTGTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGT GTATGTGAGCGTGTGTATTTCTGTGTCTGTGTGTATGTCTCCCTGTGTAT GTGAGCTTGTTTCTGTGTCTGTGCGTATGTCTCCCTGTGTGTGTGAGCGT GTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCATGTGT GTTTCTGTGTCTGTGTGTGTATCTCCCTGTGTATGTGAGCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02922.hp2 others(4): Show HG01243.hp1 HG01884.hp2 HG02922.hp2 HG03130.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0002g0022 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0002g0022 a0001c0001t0004g0005 a0001c0001t0004g0029 a0001c0001t0007g0021 a0001c0001t0009g0050	7	86	0.0814	390	c.83- others(409): Show c.83-230216_83-230215insATGTCTCCCTGTGTGAGCATGTGTGT TTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCT GTGTCTGTATGTCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGT ATGTCTCCTTGTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTGTGTATGT CTCCCTGTGTATGTGAGCGTGTGTATTTCTGTGTCTGTGTGTATGTCTCC CTGTGTATGTGAGCTTGTTTCTGTGTCTGTGCGTATGTCTCCCTGTGTGT GTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGA GCATGTGTGTTTCTGTGTCTGTGTGTGTATCTCCCTGTGTATGTGAGCTT GTTTCTGTGTCTGT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
ODF3_chr11_191761_205258	196140	T T	TGGGGGGG others(383): Show TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTT GGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	235	0.0043	390	c.-91 others(399): Show c.-915_-914insGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		620		chr11	TogoVar
OPRM1_chr6_154034240_154137356	154099659	G G	GTATATAC others(383): Show GTATATACATATATACATATATATACACACATGTATATACATATATACAT ATATATATACACACATGTATATACATATATACATATATATATACACACAT GTATATACATATATACATATATATATACACACATGTATATACATATATAC ATATATATATACACACATGTATATACATATATACATATATATATACACAC ATGTATATACATATATACATATATATATACACACACATGTATATACATAT ATACATATATATATACACACATGTATATACATATATACATATATATACAC ACATGTATATACATATATACATATATATACACACATGTATATACATATAT ACATATATATACACACACATGTATATACATATATACATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02615.hp2 others(1): Show HG02257.hp2 HG02258.hp1 HG02615.hp2 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0024 a0003c0003t0011g0027 a0003c0003t0011g0029 others(1): Show a0003c0003t0011g0024 a0003c0003t0011g0027 a0003c0003t0011g0029 a0003c0003t0011g0032	4	60	0.0667	390	c.116 others(409): Show c.1164+8203_1164+8204insTATATATACACACATGTATATACATA TATACATATATATATACACACATGTATATACATATATACATATATATATA CACACATGTATATACATATATACATATATATATACACACATGTATATACA TATATACATATATATATACACACATGTATATACATATATACATATATATA TACACACATGTATATACATATATACATATATATATACACACACATGTATA TACATATATACATATATATATACACACATGTATATACATATATACATATA TATACACACATGTATATACATATATACATATATATACACACATGTATATA CATATATACATATATATACACACACATGTATATACATATATACATATATA TATACATATATACA	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OSGIN1_chr16_83948240_83971332	83950450	C C	CACGCACA others(383): Show CACGCACATACATACTGGCACACACGTACACACACATGCACACATGAGCA CATGTGCACACATGCACATACATACTGGCACACACGTACACACACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACA CACATGCACACGTGAGCACATGTGTACACATGCACATACATACTGGCACA CACGTACACGCACACGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACATGTACACACACGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACGTACACGCACACATGAGCACATGTGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02976.hp1 others(3): Show HG02257.hp2 HG02559.hp2 HG02976.hp1 HG03041.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003	a0001c0001t0003g0180 a0001c0002t0003g0174 a0001c0002t0003g0183 others(3): Show a0001c0001t0003g0180 a0001c0002t0003g0174 a0001c0002t0003g0183 a0001c0003t0003g0178 a0001c0003t0003g0181 a0001c0003t0003g0212	6	340	0.0176	390	c.-29 others(401): Show c.-2953_-2952insACGCACATACATACTGGCACACACGTACACACAC ATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACACACATGCACACGTGAGCACATGTGTACACATGCAC ATACATACTGGCACACACGTACACGCACACGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACATGTACACACACGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCACAT GTGCAT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2789		chr16	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(383): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCT CCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCC TCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCC TCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTC CCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCCCTTCCCTCCCCCT CCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCTTCC CCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	68	0.0147	390	c.226 others(409): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTCCC CCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCT CCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCC CTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTC CCCTCCACTCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCC TCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(383): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGGG GTGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCCCTCCCTCCCGGACAGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCT GACCCCCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	3	0.3333	390	c.189 others(409): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGGGGGGGGGGTCGGCCCCC CGCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCC ACCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(383): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCCTCCCTCCCGGACAGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCT GACCCCCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG02723.hp2 others(3): Show HG01884.hp1 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG03098.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 a0003c0005t0001g0044 a0003c0005t0001g0045	6	8	0.7500	390	c.189 others(409): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGGGGGGGGGTCGGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCCA CCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PCBP3_chr21_45638725_45947450	45852503	T T	TAGCCACC others(383): Show TAGCCACCCTGACTTTTGTTCAGAAGGAACACAGCCCTGTAGCCACCCTG ACTTTTGTTCAGAAGGAACACAGCCCTGCAGCCACCCTGACTTTTGTTCA GAAGGAACACAGCCCTGCAGCCATGCTGATTTTTGTTCAGAAGGAACACA GCCCTGCAGCCACCCTGACTTTTGTTCAGAAGGAACACAGCCCTGCAGCC ACCCTGACTTTTGTTCAGAAGGAACACAGCCCTGCAGCCATGCTGATTTT TGTTCAGAAGGAACACAGCCCTGCAGCCACACTGATTTTTGTTCAGAAGG AACACAGCCCTGCAGCCACCCTGACTTTTGTTCAGAAGGAACACAGCCCT GCAGCCATGCTGATTTTTGTTCAGAAGGAACACAGCCCTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01099.hp2 others(1): Show HG00323.hp1 HG00735.hp2 HG01099.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 others(1): Show a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0008g0114	4	212	0.0189	390	c.10+ others(405): Show c.10+2446_10+2447insTAGCCACCCTGACTTTTGTTCAGAAGGAAC ACAGCCCTGCAGCCACCCTGACTTTTGTTCAGAAGGAACACAGCCCTGCA GCCATGCTGATTTTTGTTCAGAAGGAACACAGCCCTGCAGCCACCCTGAC TTTTGTTCAGAAGGAACACAGCCCTGCAGCCACCCTGACTTTTGTTCAGA AGGAACACAGCCCTGCAGCCATGCTGATTTTTGTTCAGAAGGAACACAGC CCTGCAGCCACACTGATTTTTGTTCAGAAGGAACACAGCCCTGCAGCCAC CCTGACTTTTGTTCAGAAGGAACACAGCCCTGCAGCCATGCTGATTTTTG TTCAGAAGGAACACAGCCCTGCAGCCACCCTGACTTTTGTTCAGAAGGAA CACAGCCCTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(383): Show TCCCTTGCCCTGCACCTCCCTCCCTCTCTCCCCTCACCCTGCACCTCCCC CCCCTCCACTCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT CACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACC TCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCT TTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCC TCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCC CCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0206 a0001c0001t0006g0206	1	118	0.0085	390	c.35 others(401): Show c.3554_*3555insCCCTTGCCCTGCACCTCCCTCCCTCTCTCCCCTC ACCCTGCACCTCCCCCCCCTCCACTCCCCTCACCTCCCCCCCACTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCC CCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTG CACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGC CCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCA CGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCT CACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(383): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	118	0.0085	390	c.35 others(401): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCTCCACCTCCCCCCT CACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(383): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCC TCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCC CCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01928.hp1 HG01993.hp2 others(4): Show HG00673.hp1 HG01928.hp1 HG01993.hp2 HG02071.hp1 HG02135.hp1 NA18960.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0196 others(4): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0227 a0001c0001t0001g0236	7	124	0.0565	390	c.35 others(401): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGC CCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCA CGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCT CACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(383): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCTCACCCTGCACCTCCC CCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT CACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACC TCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCT TTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCC TCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCC CCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	118	0.0085	390	c.35 others(401): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCT CACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCC CCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTG CACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGC CCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCA CGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCT CACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(383): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAA ATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATAGTTGGATA AATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGATAAATT GATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAAT GGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAA TGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0259 a0002c0003t0005g0259	1	5	0.2000	390	c.161 others(407): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGG ATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATAGTTG GATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGATA AATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGAT AAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGA TAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(383): Show GCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCGCTCACCCCCGGCCC CGCTCACACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCG CTCACACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTC ACCCCCGGCCCCCCGCTCACCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACCCCGGCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACCCCGGCCCCCGCTCACACCCGCCCCGCTCACACCCGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0001 a0007c0029t0001	a0007c0029t0001g0117 a0007c0029t0001g0117	1	58	0.0172	390	c.173 others(407): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCCGGCCCGCT CACCCCCGGCCCCGCTCACACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCCGGCCCCGCTCACACCCGCCCCGCTCACC CCCGCCCCGCTCACCCCCGGCCCCCCGCTCACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCCGACCC GCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACACCCGCCCCGCTCACCCCGGCGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACCCCGGCCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(383): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGAGGG AGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGAGCGG CGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGAAGG GGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGCGGGC AGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAG GGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAG GGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	113	0.0088	390	c.-27 others(399): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCT CCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCT CCTCCCCTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCT GCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTG CCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCC CCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(383): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGCGGGC AGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAG GGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAG GGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	113	0.0088	390	c.-27 others(399): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCT CCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCTCC CCTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCG CCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCT CCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTG CCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCC CCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PXDN_chr2_1626887_1749515	1706982	T T	TTCACCAA others(383): Show TTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCTGA GAGCATGCTTCAGTGTTCAGCGATCAGCTCTAAACATCACCTGCCCCACT AATTATACAATCTAAGAGCACGCTGCAGTGCTCACCAATCAGCTCTAAGC ATCACCTGCCCCACTAATAATACAATCTGAGAGCACGCTTCAGTGTTCAG CGATCAGCTCTAAACATCACCTGCCCCACTAATTATACAATCTAAGAGCA CGCTGCAGTGCTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAA TACAATCTGAGAGCACGCTTCAGTGTTCAGCGATCAGCTCTAAACATCAC CTGCCCCACTAATTATACAATCTAAGAGCACGCTGCAGTGC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0160 a0001c0001t0021g0160	1	313	0.0032	390	c.201 others(409): Show c.201-13849_201-13848insGCACTGCAGCGTGCTCTTAGATTGTA TAATTAGTGGGGCAGGTGATGTTTAGAGCTGATCGCTGAACACTGAAGCG TGCTCTCAGATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTG GTGAGCACTGCAGCGTGCTCTTAGATTGTATAATTAGTGGGGCAGGTGAT GTTTAGAGCTGATCGCTGAACACTGAAGCGTGCTCTCAGATTGTATTATT AGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAGCACTGCAGCGTGCTC TTAGATTGTATAATTAGTGGGGCAGGTGATGTTTAGAGCTGATCGCTGAA CACTGAAGCATGCTCTCAGATTGTATTATTAGTGGGGCAGGTGATGCTTA GAGCTGATTGGTGA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1707290	G G	GAGAGCAC others(383): Show GAGAGCACACTTCAGTGTTCACCAATCAGCTCTAAGCATCGCCTGCCCCA CTAATAATACAATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAA GCATCGCCTGCCCCACTAATAATACAATCCGAGAGCACGCTTCACTGTTC ACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGAGAG CACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAAT AATACAATCCGAGAGCATGCTTCACTGTTCACCAATCAGCTCTAAGCATC ACCTGCCCCACTAATAATACAATCTGAGAGCACGCTTCAGTGTTCAGCGA TCAGCTCTAAACATCACCTGCCCCACTAATTATACAATCTA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0317 a0001c0003t0002g0317	1	274	0.0036	390	c.201 others(409): Show c.201-14157_201-14156insTAGATTGTATAATTAGTGGGGCAGGT GATGTTTAGAGCTGATCGCTGAACACTGAAGCGTGCTCTCAGATTGTATT ATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCATG CTCTCGGATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGT GAACAGTGAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCAGGTGATGC TTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTATTAG TGGGGCAGGCGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTC GGATTGTATTATTAGTGGGGCAGGCGATGCTTAGAGCTGATTGGTGAACA CTGAAGTGTGCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(383): Show GAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAAATTTA TGCATATATATGTATACATATGCCAGAAAAACACTATGCTCTTTTATGTA ACCGTTCGTATAACTGGATAATTACCAGGCCGGACGCAGTGGCTCACCCT TGTAAACCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCAATTGAGGTCA GGAGTCCTAGACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAACTAGCTGGGCGTGGTGGTGCATGCCTGTAATCTCAGCTAC TCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAGGCAGAGGTTGC AGTGAGCCAAGACGGCACCACTGCACTCCAATCTGGGCAAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	82	0.0122	390	c.-9- others(405): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCT CAGCCTCCTGAGTAGCTGAGATTACAGGCATGCACCACCACGCCCAGCTA GTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGG TCTAGGACTCCTGACCTCAATTGATCCACCCGCCTCTGCCTCCCAAAGTG CTGGGTTTACAAGGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTT ATACGAACGGTTACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATAC ATATATATGCATAAATTTTTTCTTTTTCTTTTTTTTTTTTTTGAGACAGG GTCTCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(383): Show GAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAGAAAAAGAAAAAATTTA TGCATATATATGTATACATATGCCAGAAAAACACTATGCTCTTTTATGTA ACCGTTCGTATAACTGGATAATTACCAGGCCGGACGCAGTGGCTCACCCT TGTAAACCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCAATTGAGGTCA GGAGTCCTAGACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAACTAGCTGGGCGTGGTGGTGCATGCCTGTAATCTCAGCTAC TCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAGGCAGAGGTTGC AGTGAGCCAAGACGGCACCACTGCACTCCAATCTGGGCAAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	82	0.0122	390	c.-9- others(405): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCT CAGCCTCCTGAGTAGCTGAGATTACAGGCATGCACCACCACGCCCAGCTA GTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGG TCTAGGACTCCTGACCTCAATTGATCCACCCGCCTCTGCCTCCCAAAGTG CTGGGTTTACAAGGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTT ATACGAACGGTTACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATAC ATATATATGCATAAATTTTTTCTTTTTCTTTTTTTTCTTTTTGAGACAGG GTCTCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
RAB11FIP3_chr16_420649_528011	458573	C C	CGATGCCC others(383): Show CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATG TTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTT CCTCAGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0078 a0001c0001t0041g0078	1	257	0.0039	390	c.715 others(407): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGCTCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(383): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCT CGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	207	0.0048	390	c.715 others(407): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGG GCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAG GTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229816	A A	AAGGAAGG others(383): Show AAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGAAGGAAGGGAGAGAGAGGGAGGAAGAGGGGAAGGAAGGAAGGGAGA GAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGA GGGGAAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAA GGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGA GGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGA GGGAGGAAGAGGGGAAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	37	0.0270	390	c.27+ others(409): Show c.27+177735_27+177736insAAGGAAGGGAGAGAGAGGGAGGAAGG GAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGGAAGAGGGGAAGGAAGGAA GGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGA GGAAGAGGGGAAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGG GAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGA GAGAGAGGGAGGAAGAGGGGAAGGAAGGAAGGGAGAGAGAGGGAGGAAGG GAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGG AAGGGAGAGAGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79555477	A A	AATGGTGA others(383): Show AATGGTGATAATGGCGATGATGGTGGTGATGGTGATGATGATAGTAATGA TGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATG GTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCATGTCAGTGATGGT GGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGGTGGCAATGGTGA TGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTAGTGATGGTGATG GCAATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGCAGTGGTGGT GGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGGCAGTGGTGGTGG TGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0130 a0001c0001t0008g0130	1	127	0.0079	390	c.-32 others(411): Show c.-320+55348_-320+55349insCACCACCACCACAACTACCATCAT CACCACCATCACCACCACCACCACCACTGCCGTCACCACCATTATCACTA TTATCACCACCGTTACCACCACCACTGCCATCACCACCATCATCGCCATT ATCACCATTACCATTGCCATCACCATCACTACTATCATAATCACCCTCAC CGCCATCACTGCCATCATCACCATTGCCACCACCATCACCACCATCATTA CTATCATCACCACCACCACCATCACTGACATGATCACCATTACCACCACC ACCACTGCCGTCACCACCATTATCACTATTATCACCACCGTTACCACCAC CACTGCCATCACCACCATCATTACTATCATCATCACCATCACCACCATCA TCGCCATTATCACCAT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(383): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGT CGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0240 a0011c0021t0001g0240	1	333	0.0030	390	c.205 others(405): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACTGCACACGCCGACCCCTCCTCACTCCCCAC TGCCCACGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCT CACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(383): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	333	0.0030	390	c.205 others(405): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(383): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0222 a0005c0007t0001g0222	1	221	0.0045	390	c.205 others(405): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCG ACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(383): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG03041.hp2 others(1): Show HG02109.hp1 HG02486.hp1 HG03041.hp2 HG03130.hp2	a0002 a0002	a0002c0005 a0002c0022 a0002c0005 a0002c0022	a0002c0005t0002 a0002c0022t0001 a0002c0005t0002 a0002c0022t0001	a0002c0005t0002g0053 a0002c0005t0002g0055 a0002c0022t0001g0034 a0002c0005t0002g0053 a0002c0005t0002g0055 a0002c0022t0001g0034	4	224	0.0179	390	c.205 others(405): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACTGCCCACGCCG ACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(383): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18948.hp1 NA18986.hp2 HG04204.hp2 NA18948.hp1 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0204 a0002c0002t0001g0045 a0002c0002t0001g0204	3	223	0.0135	390	c.205 others(405): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACTGCCCACGCCG ACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(383): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02074.hp1 HG02698.hp2 others(2): Show HG01981.hp1 HG02074.hp1 HG02698.hp2 HG03239.hp1 HG03579.hp1	a0001 a0025 a0031 a0001 a0025 a0031	a0001c0001 a0025c0037 a0031c0030 a0001c0001 a0025c0037 a0031c0030	a0001c0001t0001 a0025c0037t0001 a0031c0030t0001 a0001c0001t0001 a0025c0037t0001 a0031c0030t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0025c0037t0001g0125 a0031c0030t0001g0095	5	203	0.0246	390	c.205 others(402): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(383): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATATATAG TATATGCCATATGGTATATATTGCATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	82	0.0122	390	c.-9+ others(407): Show c.-9+21075_-9+21076insACAATATATACCATATGGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATGCAATATATAC CATATGGCATATACTATATATTTTATATGCAATATATACCATATGGCATA TACTATATATTTTATATGCAATATATACCATATGGCATATACTATATATT TTATATGCAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(383): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18999.hp1 HG01257.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0131 a0001c0001t0003g0103 a0001c0001t0001g0131 a0001c0001t0003g0103	2	83	0.0241	390	c.-9+ others(407): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATGCAATATATACCATATGGCATATACTATATATT TTATATGCAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(383): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0154 a0001c0001t0031g0154	1	82	0.0122	390	c.-9+ others(407): Show c.-9+21075_-9+21076insACAATATATACCATATGGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATGCAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(383): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00673.hp1 others(16): Show HG00438.hp1 HG00639.hp1 HG00673.hp1 HG01074.hp2 HG01175.hp2 HG01261.hp2 HG01952.hp2 HG02738.hp2 HG02809.hp2 HG02922.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 NA18612.hp1 NA18964.hp1 NA18974.hp1 NA18983.hp1 NA19003.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0025 a0001c0001t0035 a0001c0001t0044 a0001c0001t0065 a0002c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0001g0149 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0158 a0001c0001t0003g0124 a0001c0001t0004g0061 a0001c0001t0005g0106 a0001c0001t0005g0171 a0001c0001t0006g0156 a0001c0001t0025g0095 a0001c0001t0035g0137 a0001c0001t0044g0141 a0001c0001t0065g0123 a0002c0006t0001g0173	19	100	0.1900	390	c.-9+ others(407): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATGCAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(383): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0096	1	82	0.0122	390	c.-9+ others(407): Show c.-9+21075_-9+21076insACAATATATACCATATGGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(383): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG01109.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0052 a0001c0001t0001 a0001c0001t0052	a0001c0001t0001g0155 a0001c0001t0052g0164 a0001c0001t0001g0155 a0001c0001t0052g0164	2	83	0.0241	390	c.-9+ others(407): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(383): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0188 a0001c0001t0068g0188	1	82	0.0122	390	c.-9+ others(407): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(383): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATATATTTAAAGATATATATTAAATTATATATATTAAAATA TGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAA AATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATAT ATATATATTTATATATATATTTATATATATATATTTATATATATATATTT ATATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	364	0.0027	390	c.182 others(407): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATATATTTAAAGATATATAT TAAATTATATATATTAAAATATGTATATTAATATATATTTAAATTATATA ATTTAAATATACATATTTAAAAATATATATATTTAAATATATATATTTTT AATATATATATTTTTAAATATATATATATTTATATATATATTTATATATA TATATTTATATATATATATTTATATATATATATTTATATATATATTTTTA AATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(383): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATATATTTAAAGATATATATTAAATTATATATATTAAAATA TGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAA AATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATAT ATATATATTTATATATATATTTTTATATATATATTTATATATATATATTT ATATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp1 HG02630.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	2	365	0.0055	390	c.182 others(407): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATATATTTAAAGATATATAT TAAATTATATATATTAAAATATGTATATTAATATATATTTAAATTATATA ATTTAAATATACATATTTAAAAATATATATATTTAAATATATATATTTTT AATATATATATTTTTAAATATATATATATTTATATATATATTTTTATATA TATATTTATATATATATATTTATATATATATATTTATATATATATTTTTA AATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar

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