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
APMAP_chr20_24957925_24997751	24972150	G G	GTGTTCAC others(169): Show GTGTTCACTGTGGGGTGCTCACTGCAGGTGCTTATTGCAGGGTGTTCACT GTGAGGTACTCACTGCAGGTGCTTACTGCAGGGTGTTCAAGTGGAGTGCT CACTGCAGGTGCTTATTGCAGGGTGTTATTGCAGGGTGTTCACTGTGGGG TGCTCACCACAGGGGCTTATTGCAAGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	290	0.0035	176	c.422 others(191): Show c.422-750_422-575dupTCTTGCAATAAGCCCCTGTGGTGAGCACCC CACAGTGAACACCCTGCAATAACACCCTGCAATAAGCACCTGCAGTGAGC ACTCCACTTGAACACCCTGCAGTAAGCACCTGCAGTGAGTACCTCACAGT GAACACCCTGCAATAAGCACCTGCAGTGAGCACCCCACAGTGAACA	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	4/8			chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687049	C C	CCCCGTGA others(169): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACT TCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGA CCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	246	0.0041	176	c.-14 others(187): Show c.-1446_-1445insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTC GCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGG TCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1204		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(169): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03225.hp2 NA20300.hp1 HG02257.hp1 HG03225.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0002t0001 a0001c0007t0003 a0001c0001t0002 a0001c0002t0001 a0001c0007t0003	a0001c0001t0002g0131 a0001c0002t0001g0126 a0001c0007t0003g0078 a0001c0001t0002g0131 a0001c0002t0001g0126 a0001c0007t0003g0078	3	246	0.0122	176	c.-18 others(187): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(169): Show GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	246	0.0041	176	c.-18 others(187): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687476	C C	CCCCGTGA others(169): Show CCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGA CCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	246	0.0041	176	c.-18 others(187): Show c.-1873_-1872insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1631		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCGTGA others(169): Show CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCA CTTCCCACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	246	0.0041	176	c.-20 others(187): Show c.-2049_-2048insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCAC TGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCGTGA others(169): Show CCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGACCACACA CTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGA CCACACATTTACAGTGAACACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03139.hp1 HG02280.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0139 a0001c0002t0001g0140 a0001c0001t0002g0139 a0001c0002t0001g0140	2	246	0.0081	176	c.-20 others(187): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687777	G G	GCAGTGAG others(169): Show GCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAACACTTCC CACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGC ACTTCCCACCCCGTGACCACACATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	246	0.0041	176	c.-21 others(187): Show c.-2174_-2173insTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACT GCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTG TTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1932		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1849894	G G	GTGGACAC others(169): Show GTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0004 a0002c0030t0004	a0002c0030t0004g0169 a0002c0030t0004g0169	1	363	0.0028	176	c.37+ others(191): Show c.37+6589_37+6590insGTGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1849936	G G	GCGTGGAC others(169): Show GCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCA AATGCTGAGGAGGGTGTGGGGCGGCCA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0005 a0005	a0005c0137 a0005c0137	a0005c0137t0021 a0005c0137t0021	a0005c0137t0021g0112 a0005c0137t0021g0112	1	363	0.0028	176	c.37+ others(191): Show c.37+6545_37+6546insGTGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCC ACGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850013	G G	GTGGGCCG others(169): Show GTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGC CGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTG CATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGA CACAGAGGGCAAATGCTGAGGAGGGCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0090 a0001c0023t0007g0090	1	363	0.0028	176	c.37+ others(191): Show c.37+6707_37+6708insCGTGGGCCGGCTGCATGGACACAGAGGGCA AATGCTGAGGAGGGCATGGGCCGGCTGCATGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850026	A A	ATGGACAC others(169): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAA TGCTGAGGAGGGTGTGGGGCGGCCACG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00621.hp1 others(12): Show HG00408.hp2 HG00558.hp1 HG00621.hp1 HG01261.hp2 HG01346.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG02155.hp2 NA18963.hp1 NA18965.hp1 NA18982.hp2 NA19002.hp2 NA19088.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0013 a0001c0067 a0001c0135 a0002c0034 a0002c0073 a0002c0074 a0002c0078 a0002c0080	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 a0001c0013t0001 a0001c0067t0001 a0001c0135t0003 a0002c0034t0040 a0002c0073t0001 a0002c0074t0002 a0002c0078t0002 a0002c0080t0022	a0001c0001t0002g0053 a0001c0002t0001g0050 a0001c0002t0001g0064 others(12): Show a0001c0001t0002g0053 a0001c0002t0001g0050 a0001c0002t0001g0064 a0001c0003t0001g0026 a0001c0003t0001g0033 a0001c0003t0001g0059 a0001c0010t0001g0044 a0001c0013t0001g0017 a0001c0067t0001g0063 a0001c0135t0003g0163 a0002c0034t0040g0074 a0002c0073t0001g0062 a0002c0074t0002g0052 a0002c0078t0002g0036 a0002c0080t0022g0035	15	363	0.0413	176	c.37+ others(191): Show c.37+6633_37+6634insATGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCC ACGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850026	A A	ATGGACAC others(169): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGGCGGCCACGTGGACACAGAC AGCAAATGCTGAGGAGGGCGTGGGGCGACCATGTGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0067 a0002c0048t0067	a0002c0048t0067g0095 a0002c0048t0067g0095	1	363	0.0028	176	c.37+ others(191): Show c.37+6669_37+6670insGCGGCCACGTGGACACAGACAGCAAATGCT GAGGAGGGCGTGGGGCGACCATGTGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850152	G G	GGCTGCGT others(169): Show GGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC ATGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCATGGAC ACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCATGGACACAGAG GGCAAATGCTGAGGAGGGCATTGGCTA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	363	0.0028	176	c.37+ others(191): Show c.37+6718_37+6719insTGCGTGGACACAGAGGGCAAATGCTGAGGA GGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCAT TGGCTAGCCGCATGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTA GCCGCATGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850152	G G	GGCTGCGT others(169): Show GGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC GTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAG GGCAAATGCTGAGGAGGGCATTGGCTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp2 HG03579.hp2 others(2): Show HG02451.hp2 HG02976.hp2 HG03579.hp2 NA19030.hp1 NA19030.hp2	a0001 a0004 a0020 a0001 a0004 a0020	a0001c0005 a0001c0012 a0001c0023 others(2): Show a0001c0005 a0001c0012 a0001c0023 a0004c0040 a0020c0103	a0001c0005t0016 a0001c0012t0001 a0001c0023t0001 others(2): Show a0001c0005t0016 a0001c0012t0001 a0001c0023t0001 a0004c0040t0009 a0020c0103t0002	a0001c0005t0016g0101 a0001c0012t0001g0031 a0001c0023t0001g0034 others(2): Show a0001c0005t0016g0101 a0001c0012t0001g0031 a0001c0023t0001g0034 a0004c0040t0009g0038 a0020c0103t0002g0039	5	363	0.0138	176	c.37+ others(191): Show c.37+6718_37+6719insTGCGTGGACACAGAGGGCAAATGCTGAGGA GGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGT GGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCG GCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850246	G G	GTGGACAC others(169): Show GTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0195 a0001c0005t0027g0195	1	363	0.0028	176	c.37+ others(191): Show c.37+6820_37+6821insGGGCAAATGCTGAGGAGGGCGTGGGCCGGC TGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTG GACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACA GAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850371	G G	GCCGCGTG others(169): Show GCCGCGTGGGCATGGACGGCAAATGCTGAGGAGGGTGTGGGGCAACCGCG TGGACACAGACGGCAAATGCTGAGGAGGGTGTGGGGCAACCGCGTGGGCA TGGACGGCAAATGCTGAGGAGGGTGTGGGGCAACCGCGTGGACACAGACG GCAAATGCTGAGGAGGGTGTGGGGCAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0136 a0003c0136	a0003c0136t0008 a0003c0136t0008	a0003c0136t0008g0300 a0003c0136t0008g0300	1	363	0.0028	176	c.37+ others(191): Show c.37+7044_37+7045insATGCTGAGGAGGGTGTGGGGCAACCGCGTG GACACAGACGGCAAATGCTGAGGAGGGTGTGGGGCAACCGCGTGGGCATG GACGGCAAATGCTGAGGAGGGTGTGGGGCAACCGCGTGGACACAGACGGC AAATGCTGAGGAGGGTGTGGGGCAACCGCGTGGGCATGGACGGCAA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873435	C C	CCCGCGGG others(169): Show CCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTGGAGAGGTGCCGCG GGGTAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGGTGCCGCGGGGTAG TGCACCCGCATTTCCTCGTTGCGTTGAGAGGTGCCGCGGGGTAGTGCACC CGCATTTCCTCGTTGCGTTGAGACGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18982.hp2 HG00438.hp2 NA18982.hp2	a0001 a0001	a0001c0014 a0001c0067 a0001c0014 a0001c0067	a0001c0014t0066 a0001c0067t0001 a0001c0014t0066 a0001c0067t0001	a0001c0014t0066g0119 a0001c0067t0001g0063 a0001c0014t0066g0119 a0001c0067t0001g0063	2	363	0.0055	176	c.680 others(193): Show c.680-3101_680-3100insGGAGAGGTGCCGCGGGGTAGTGCACCCG CATTTCCTCGTTGCGTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTC CTCGTTGCGTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTT GCGTTGAGACGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873597	G G	GCGTTGAG others(169): Show GCGTTGAGAGGCGCCCGCGGGGTAGTGCATCCGCATTTCCTCGCGTTGAG AGGTACCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGC CCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTCAGAGGCGCCCGCG GGGTAGTGCACCCGCATTTCCTCGTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0001 a0001c0085t0001	a0001c0085t0001g0231 a0001c0085t0001g0231	1	363	0.0028	176	c.680 others(193): Show c.680-2973_680-2972insGTTGAGAGGCGCCCGCGGGGTAGTGCAT CCGCATTTCCTCGCGTTGAGAGGTACCGCGGGGTAGTGCACCCGCATTTC CTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGT TGCCTTCAGAGGCGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(169): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	264	0.0038	176	c.102 others(193): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCC CCGCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(169): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	264	0.0038	176	c.102 others(193): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCCTCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ATG10_chr5_81967023_82261133	82140160	T T	TGCCCGGC others(169): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0007 a0005c0005t0010g0007	1	226	0.0044	176	c.217 others(195): Show c.217-24205_217-24204insAGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140209	C C	CGCCCGGC others(169): Show CGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGTGTCAGCCCCCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03516.hp2 HG01099.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0015 a0002c0002t0004 a0002c0002t0015	a0002c0002t0004g0215 a0002c0002t0015g0070 a0002c0002t0004g0215 a0002c0002t0015g0070	2	226	0.0089	176	c.217 others(195): Show c.217-24174_217-24173insTGTCCGGGAGGTGAGGGGCACCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCTGCCCGGCCAGCCGCCC	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140243	G G	GGGGTGTC others(169): Show GGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	226	0.0044	176	c.217 others(195): Show c.217-24153_217-24152insTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP8A2_chr13_25366974_26030851	25417485	A A	AGCTGATA others(169): Show AGCTGATATTTATGGACTGTCGTCTCAGATGCTGGATAAGTTTTCATTGA TTCATGGACCCATACTCTAATTTGTTTCAGAAAGAATTTAAGACAGCTGG ATAATTTTTTACTTCATTAGCTTACAAAGCACTTTAGCATGTATTATACC ATTTGATTATCCTAATAGTCCTGTGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp2 HG01243.hp2 others(40): Show HG01069.hp2 HG01074.hp2 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA18977.hp1 NA18986.hp1 NA18986.hp2 NA19004.hp1 NA19030.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0017 a0001c0018 a0001c0020 a0001c0021	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(39): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0001t0030 a0001c0001t0041 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0053 a0001c0001t0066 a0001c0001t0074 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0021 a0001c0002t0032 a0001c0002t0047 a0001c0002t0058 a0001c0002t0063 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0062 a0001c0003t0065 a0001c0003t0073 a0001c0005t0021 a0001c0006t0006 a0001c0006t0043 a0001c0007t0007 a0001c0012t0002 a0001c0017t0036 a0001c0018t0024 a0001c0020t0019 a0001c0021t0055	a0001c0001t0003g0093 a0001c0001t0004g0040 a0001c0001t0009g0065 others(40): Show a0001c0001t0003g0093 a0001c0001t0004g0040 a0001c0001t0009g0065 a0001c0001t0010g0100 a0001c0001t0015g0082 a0001c0001t0017g0051 a0001c0001t0026g0090 a0001c0001t0030g0087 a0001c0001t0041g0044 a0001c0001t0046g0045 a0001c0001t0048g0122 a0001c0001t0050g0025 a0001c0001t0053g0114 a0001c0001t0066g0092 a0001c0001t0074g0116 a0001c0002t0001g0069 a0001c0002t0002g0037 a0001c0002t0005g0034 a0001c0002t0020g0097 a0001c0002t0021g0017 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0002t0058g0101 a0001c0002t0063g0050 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0006g0078 a0001c0003t0009g0107 a0001c0003t0010g0026 a0001c0003t0014g0084 a0001c0003t0014g0111 a0001c0003t0062g0024 a0001c0003t0065g0033 a0001c0003t0073g0001 a0001c0005t0021g0030 a0001c0006t0006g0098 a0001c0006t0043g0095 a0001c0007t0007g0094 a0001c0012t0002g0110 a0001c0017t0036g0019 a0001c0018t0024g0066 a0001c0020t0019g0067 a0001c0021t0055g0077	43	122	0.3525	176	c.76+ others(193): Show c.76+45199_76+45200insTGATATTTATGGACTGTCGTCTCAGATG CTGGATAAGTTTTCATTGATTCATGGACCCATACTCTAATTTGTTTCAGA AAGAATTTAAGACAGCTGGATAATTTTTTACTTCATTAGCTTACAAAGCA CTTTAGCATGTATTATACCATTTGATTATCCTAATAGTCCTGTGAGGC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN7L1_chr7_105599772_105881599	105733654	C C	CCACCCAT others(169): Show CCACCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCATCC ACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGTCCAT CCATCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCCACCC ATCCATCCATCCATCCATCCATCCATT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19054.hp2 NA18995.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0009 a0001c0012t0003 a0001c0001t0009 a0001c0012t0003	a0001c0001t0009g0054 a0001c0012t0003g0047 a0001c0001t0009g0054 a0001c0012t0003g0047	2	252	0.0079	176	c.355 others(195): Show c.355+54949_355+54950insAATGGATGGATGGATGGATGGATGGA TGGGTGGATGGATGAATGGGTGGATGGGTGGATGGATGGATGGGTGGATG GATGGACGGATGGAGGGGTGGATGGATGGGTGGTTGGGTGGATGGATGGG TGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGGTG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82958880	C C	CTGGGGGT others(169): Show CTGGGGGTGTATGGTGTGTGTGTATACTGTGTGGGGGTGTATGGTGTGTG TGTATACTGTGTGGGGGTGTATGTGTGTGTGTGTACACTGTGGGGGTGTA TGGTGTGTGTGTGTGTATACTGTGTGGGGGTGTATGGTGTGTGTGTGTGT ACACTGGGGGTGTATGGTGTGTATGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp1 HG03579.hp2 HG02818.hp2 HG03041.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0186 a0001c0002t0001g0114 a0001c0006t0001g0016 a0001c0001t0001g0186 a0001c0002t0001g0114 a0001c0006t0001g0016	3	266	0.0113	176	c.681 others(193): Show c.681-1387_681-1386insCACATACACACCATACACCCCCAGTGTA CACACACACACACCATACACCCCCACACAGTATACACACACACACACCAT ACACCCCCACAGTGTACACACACACACATACACCCCCACACAGTATACAC ACACACCATACACCCCCACACAGTATACACACACACCATACACCCCCA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82984480	G G	GGGGAGAG others(169): Show GGGGAGAGGCCACAGGGAGAGGCCACAGGAGGATGCAGGGAGAGACCACG TGATTATGCAGGGGAGAGGCCATGTGAGCACACAGGGAGAGGCCACAGGA GGACGCAGGGAGAGGCCACAGGAGGATGCAGGGAGAGACCACGTGATTAT GCAGGGGAGAGGCCATGTGAGCACACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	266	0.0038	176	c.460 others(195): Show c.460-18735_460-18734insTGTGTGCTCACATGGCCTCTCCCCTG CATAATCACGTGGTCTCTCCCTGCATCCTCCTGTGGCCTCTCCCTGCGTC CTCCTGTGGCCTCTCCCTGTGTGCTCACATGGCCTCTCCCCTGCATAATC ACGTGGTCTCTCCCTGCATCCTCCTGTGGCCTCTCCCTGTGGCCTCTCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(169): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTG CTGTTGCGTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01074.hp1 others(26): Show HG00609.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01934.hp2 HG02055.hp1 HG02132.hp2 HG02155.hp2 HG02258.hp1 HG02615.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 NA18943.hp1 NA18945.hp1 NA18979.hp2 NA18986.hp2 NA19011.hp1 NA19064.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0034 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0011 a0001c0006t0010 a0002c0002t0002	a0001c0001t0001g0156 a0001c0001t0001g0280 a0001c0001t0003g0129 others(26): Show a0001c0001t0001g0156 a0001c0001t0001g0280 a0001c0001t0003g0129 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0171 a0001c0001t0004g0359 a0001c0001t0005g0263 a0001c0001t0007g0333 a0001c0001t0012g0338 a0001c0001t0034g0023 a0001c0003t0001g0192 a0001c0003t0001g0200 a0001c0003t0001g0205 a0001c0003t0001g0208 a0001c0003t0003g0195 a0001c0003t0003g0201 a0001c0003t0003g0214 a0001c0003t0004g0226 a0001c0003t0005g0220 a0001c0004t0011g0317 a0001c0006t0010g0318 a0001c0006t0010g0320 a0002c0002t0002g0120 a0002c0002t0002g0148 a0002c0002t0002g0163 a0002c0002t0002g0308	29	376	0.0771	176	c.131 others(191): Show c.131-939_131-938insGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGC TGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(169): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTTCGTTTTTCTG CTGTTGCGTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0319 a0001c0004t0011g0319	1	376	0.0027	176	c.131 others(191): Show c.131-949_131-948insTCGTTTTTCTGCTGTTGCGTTTTTCTGCTG TTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTT GCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGC GTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BBS5_chr2_169474494_169511655	169496786	G G	GTGAACCC others(169): Show GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA ATACAAAAAATTGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCTAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 NA20129.hp1 HG03209.hp1 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0020 a0001c0004t0019g0020	3	398	0.0075	176	c.619 others(191): Show c.619-835_619-834insCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAATACAAAAAATTGGCCGGGCGCGGTGGCGGGCGCCTG TAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCHE_chr3_165767904_165842423	165797250	T T	TTCTTCCC others(169): Show TTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCC TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC TTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCC CTCCTTCCTTCTTCCCTCCCTCCTTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	304	0.0033	176	c.151 others(197): Show c.1518-10940_1518-10939insGGAAGGAGGGAGGGAAGAAGGAAG GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAG GAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAG GGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAA GA	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCHE_chr3_165767904_165842423	165797259	T T	TCCCCCCT others(169): Show TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCC TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCT TCCCTCCCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01074.hp1 others(30): Show HG00609.hp2 HG00621.hp2 HG01074.hp1 HG01167.hp1 HG01243.hp2 HG02040.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18985.hp1 NA18994.hp2 NA19058.hp2 NA19065.hp2 NA19085.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0008 a0001c0001 a0002c0002 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0002 a0002c0002t0009 a0007c0008t0003	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0127 others(25): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0127 a0001c0001t0003g0006 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0046 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0007g0137 a0002c0002t0002g0004 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0056 a0002c0002t0002g0060 a0002c0002t0002g0063 a0002c0002t0002g0066 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0009g0103 a0007c0008t0003g0041	33	304	0.1086	176	c.151 others(197): Show c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGA GGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGG GG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCL11A_chr2_60452194_60558654	60517941	C C	CATGCATG others(169): Show CATGCATGCATACACATATGCTCCCAATGTACACATGATGATGTCACACA TATTCCATGTCCACACAGATAATGTGTAGTACCACAGTGCTCTCAATCAC ACTTGCACATGAATCCATGCACAGTCTGTACATATGTGAAGACACCTTTT CCCACAGGGTGCCCAGGTGAGTGCATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02083.hp2 HG02280.hp1 others(9): Show HG01884.hp2 HG02083.hp2 HG02280.hp1 HG02615.hp1 HG02723.hp2 HG02976.hp1 HG03195.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0046 a0001c0001t0063	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0003g0183 a0001c0001t0003g0187 a0001c0001t0004g0074 a0001c0001t0011g0188 a0001c0001t0012g0218 a0001c0001t0015g0185 a0001c0001t0016g0257 a0001c0001t0046g0186 a0001c0001t0063g0234	12	262	0.0458	176	c.385 others(195): Show c.385+28029_385+28030insTATGCACTCACCTGGGCACCCTGTGG GAAAAGGTGTCTTCACATATGTACAGACTGTGCATGGATTCATGTGCAAG TGTGATTGAGAGCACTGTGGTACTACACATTATCTGTGTGGACATGGAAT ATGTGTGACATCATCATGTGTACATTGGGAGCATATGTGTATGCATGCAT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BEAN1_chr16_66422295_66487833	66474616	G G	GGGAGGGA others(169): Show GGGAGGGAGGGAGGAAGGAAGGGAGGAAGGGAGGGAAGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGA GGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGG GAGGAAGGAAGGGAGGAAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp1 HG01884.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0104 a0001c0001t0003g0106	2	298	0.0067	176	c.290 others(193): Show c.290-2943_290-2942insGAGGGAGGGAGGAAGGAAGGGAGGAAGG GAGGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGA GAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGA GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGAAGGGAGGGAAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474621	G G	GGAGGGAG others(169): Show GGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGG AGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAG GGAGAGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGG AGAGAGGGAGGGAGAGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	298	0.0034	176	c.290 others(193): Show c.290-2920_290-2919insAGAGGGAGGGAGAGAGGGAGGGAGAGAG GGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGG AGGGAGAGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAG GGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(169): Show ATATATTTATAATAAATATATAATATATATTTATAATAAATATATATTAT ATATTTATTATAAATATTATATATTATATATTATATTTATAATAAATATT ATATATTATATATTATATTTATAATAAATATTATATATTATATATTATAT TTATAATAAATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	290	0.0035	176	c.426 others(195): Show c.426+35676_426+35677insATAATATATATTTATAATAAATATAT ATTATATATTTATTATAAATATTATATATTATATATTATATTTATAATAA ATATTATATATTATATATTATATTTATAATAAATATTATATATTATATAT TATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMPR2_chr2_202371327_202572749	202545212	C C	CTCCCCTC others(169): Show CTCCCCTCCCCCTCCACCTCCCCCTCTGCCTCCCCCTCCCCTCCGCTTCC CCCCACCTCTTCCCCCTTCCCTCTGCTTCCCTCTCTCCCCTCCTCCCCAC TTCCCCTCCTTCCCCCCTTCCCCTCCTTCCCCCCTTCCCCCCTTCCCCTC CTTCCCCCCTTCCCCTCCTTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0033 a0001c0001t0014g0033	1	224	0.0045	176	c.141 others(195): Show c.1413+2775_1413+2776insCTCCACCTCCCCCTCTGCCTCCCCCT CCCCTCCGCTTCCCCCCACCTCTTCCCCCTTCCCTCTGCTTCCCTCTCTC CCCTCCTCCCCACTTCCCCTCCTTCCCCCCTTCCCCTCCTTCCCCCCTTC CCCCCTTCCCCTCCTTCCCCCCTTCCCCTCCTTCCCCCCTTCCCCTCCCC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTATATAT others(169): Show GTATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATATATACCCATGGGTATATATATATATATATATATAT ATACCCATGGGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0223 a0001c0001t0007g0223	1	386	0.0026	176	c.-81 others(195): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATATATA CCCATGGGTATATATATATATATATATATATATACCCATGGGTATATATA TATATATATATATATACCCATGGGTATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTGTATAT others(169): Show GTGTATATATACCCATGGGTATATATATATATATATATATATATACCCAT GGGTATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATACCCATGGGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0228 a0001c0001t0007g0228	1	386	0.0026	176	c.-81 others(195): Show c.-81-13455_-81-13454insGTATATATACCCATGGGTATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATACCCATGGGTATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATATATACCCATGGGTATATATATATATATAT	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236282	G G	GTATATAT others(169): Show GTATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATATACCCATGGGTATATATAT ATATATATATATATACCCATGGGTATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	386	0.0026	176	c.-81 others(195): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATATACC CATGGGTATATATATATATATATATATATACCCATGGGTATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(169): Show ATATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATACCCATGGGTATAT ATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	386	0.0026	176	c.-81 others(195): Show c.-81-13403_-81-13402insGTATATATATATATATATATATATAT ATACCCATGGGTATATATATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATACCCATGGGTATATATATATATATAT ATATATACCCATGGGTATATATATATATATATATATATATATACCCATGG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(169): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATATATACCCATGGGTATATATAT ATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19087.hp2 NA18954.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0135 a0001c0003t0012g0219 a0001c0003t0012g0135 a0001c0003t0012g0219	2	386	0.0052	176	c.-81 others(195): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATACCCATG GGTATATATATATATATATATATATATATATATACCCATGGGTATATATA TATATATATATATATATATACCCATGGGTATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(169): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATATACCCATGGGTATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATATATACCCATGGGTATATATAT ATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0078 a0001c0003t0003g0078	1	386	0.0026	176	c.-81 others(195): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATACCCATG GGTATATATATATATATATATATATATATATATACCCATGGGTATATATA TATATATATATATATATATACCCATGGGTATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(169): Show ATATATATATATATATATATATATACCCATGGGTATATATATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATATATATACCCATGGGTATAT ATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	386	0.0026	176	c.-81 others(195): Show c.-81-13403_-81-13402insGTATATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATACCCATGGGTATATATATATATATATATATATACCCATGG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCCCGCC others(169): Show CCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCCCC CCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGACC AACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGCCC CGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01123.hp1 others(14): Show HG00438.hp1 HG00673.hp2 HG01123.hp1 HG01884.hp1 HG01975.hp1 HG02486.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03710.hp2 NA18989.hp1 NA19007.hp2 NA19043.hp2 NA19058.hp1 NA19065.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0002c0003t0003	a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 others(13): Show a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0004t0001g0197 a0001c0005t0001g0009 a0001c0005t0001g0205 a0001c0005t0001g0206 a0001c0005t0001g0210 a0002c0003t0003g0229	17	258	0.0659	176	c.323 others(191): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCGCCGCC others(169): Show CCGCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCCCC CCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGACC AACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGCCC CGCAGCTATGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0199 a0001c0004t0001g0199	1	258	0.0039	176	c.323 others(191): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACATAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGCG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCGCCGCC others(169): Show CCGCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCCCC CCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGACC AACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGCCC CGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02040.hp1 HG02451.hp2 others(11): Show HG01256.hp2 HG02040.hp1 HG02451.hp2 HG02622.hp2 HG02818.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG04228.hp1 NA18940.hp1 NA18943.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0002c0003t0003	a0001c0001t0001g0044 a0001c0001t0001g0180 a0001c0001t0007g0211 others(11): Show a0001c0001t0001g0044 a0001c0001t0001g0180 a0001c0001t0007g0211 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0004t0001g0018 a0001c0004t0001g0200 a0001c0005t0001g0204 a0002c0003t0003g0233	14	258	0.0543	176	c.323 others(191): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGCG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCCCC others(169): Show CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCC CCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp1 HG03579.hp1 HG02886.hp2 HG03041.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0013g0123 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0013g0123	3	330	0.0091	176	c.431 others(193): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C20orf96_chr20_265863_295750	278962	G G	GGGAGGGA others(169): Show GGGAGGGAGGGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGCGG GAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGA GGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGG GAGGGACGGAGGGAGGAAGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01255.hp1 HG00639.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0294 a0001c0003t0001g0345 a0001c0001t0001g0294 a0001c0003t0001g0345	2	410	0.0049	176	c.465 others(191): Show c.465+209_465+210insGTCCCGCCCTTCCTCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCC CTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCG CCCTCCCTCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar

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