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
RNF214_chr11_117227671_117291454	117244635	T T	TCAAACTT others(309): Show TCAAACTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GGTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG00642.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0044 a0001c0001t0005g0081 a0001c0001t0001g0044 a0001c0001t0005g0081	2	360	0.0056	316	c.819 others(329): Show c.819+66_819+67insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGGTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCAAACTTTAATTTTTT	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ROBO2_chr3_77035099_77654964	77293391	C C	CAGACATA others(309): Show CAGACATAAAGTAAAATTGATGGTTAAACGGGAAGTTGAGGCTAGAACAG TAAAGACATAAAGTAGAATTGATGGTTAAACGGGTAGGCTGAGGCTAGAT CACCCCAGATGTAAAGTAAAATTGACGGCTAAACGAGTAAGCTGCAGCTA GATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGG CTAGATCACCCCAGACATAAAGTAAAATTGACGGTTTAAACGGGTACACT GAGGCTAGATCACCCAGACATAAAGTAAAATTGAAGATTAAATGGGAAGT TAAGGCTAGAACAGTAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	160	0.0063	316	c.389 others(337): Show c.389-183992_389-183991insAAGTTGAGGCTAGAACAGTAAAGA CATAAAGTAGAATTGATGGTTAAACGGGTAGGCTGAGGCTAGATCACCCC AGATGTAAAGTAAAATTGACGGCTAAACGAGTAAGCTGCAGCTAGATCAC CCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGAT CACCCCAGACATAAAGTAAAATTGACGGTTTAAACGGGTACACTGAGGCT AGATCACCCAGACATAAAGTAAAATTGAAGATTAAATGGGAAGTTAAGGC TAGAACAGTAAAGACATAAAGTAAAATTGATGGTTAAACGGG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11286234	T T	TTAAGCAG others(309): Show TTAAGCAGATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18959.hp1 NA19066.hp1 HG03540.hp2 NA18959.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0079 a0002c0002t0002 a0002c0002t0079	a0002c0002t0002g0012 a0002c0002t0002g0062 a0002c0002t0079g0319 a0002c0002t0002g0012 a0002c0002t0002g0062 a0002c0002t0079g0319	3	320	0.0094	316	c.324 others(331): Show c.324+304_324+305insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAACATCTGCTTA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32			chr2	TogoVar
RPA3_chr7_7631518_7723607	7718904	T T	TAAAGCTT others(309): Show TAAAGCTTCCCAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02717.hp2 NA18522.hp1 others(1): Show HG01891.hp1 HG02717.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0002g0098 a0001c0001t0005g0100 a0001c0001t0005g0102 others(1): Show a0001c0001t0002g0098 a0001c0001t0005g0100 a0001c0001t0005g0102 a0001c0001t0012g0101	4	308	0.0130	316	c.-14 others(327): Show c.-1470_-1469insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCCGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCACTTGGGAAGCTTT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding		298		chr7	TogoVar
RPH3AL_chr17_207389_357807	356241	C C	CCACACAC others(309): Show CCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 NA18951.hp2 NA18995.hp2 others(4): Show HG01943.hp1 NA18951.hp2 NA18995.hp2 NA18999.hp1 NA19056.hp1 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0027 a0001c0001t0002g0010 a0001c0001t0002g0028 others(4): Show a0001c0001t0001g0027 a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0004g0008 a0001c0001t0019g0011 a0001c0001t0019g0012	7	133	0.0526	316	c.-37 others(327): Show c.-3743_-3742insTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3435		chr17	TogoVar
RPS7_chr2_3570260_3585920	3582716	G G	GAAAAGAA others(309): Show GAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01167.hp2 HG01243.hp2 others(22): Show HG00408.hp1 HG01167.hp2 HG01243.hp2 HG01981.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02273.hp2 HG04115.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18953.hp1 NA18963.hp1 NA18967.hp1 NA18968.hp1 NA18993.hp2 NA18997.hp1 NA19001.hp1 NA19001.hp2 NA19057.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0003g0001	25	430	0.0581	316	c.18 others(327): Show c.1834_*1835insAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCC	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		1797		chr2	TogoVar
RTL4_chrX_112078016_112462514	112130967	T T	TTGTATTT others(309): Show TTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01168.hp1 HG02055.hp1 HG02257.hp2 others(6): Show HG01168.hp1 HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02630.hp2 HG02895.hp1 HG02976.hp1 HG03195.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004	a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 others(2): Show a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 a0002c0001t0001 a0003c0004t0001	a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0032 others(6): Show a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0032 a0001c0002t0002g0131 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0003t0003g0028 a0002c0001t0001g0026 a0003c0004t0001g0034	9	134	0.0672	316	c.-56 others(329): Show c.-563-3_-563-2insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGTATTTTTTTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTP5_chr2_241864729_241878823	241877949	T T	TGCTCCCC others(309): Show TGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCT CCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCCGG CCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCC CCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCC ACCCCATCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	365	0.0027	316	c.46 others(327): Show c.4675_*4676insGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCC CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCACCCCCATCCCTCTCCT CGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTC CCCTCCCTCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCC TCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTC CTGGCCGCCCCCCCCACCCCATCCCTCTCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4127		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878015	C C	CCGCCCCC others(309): Show CCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCC CCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACC CCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCATC CCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCCCATCCCTC TCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCCATCCCTCTCC TCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGC TCCCCTCCCTCTCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0043 a0003c0003t0002g0043	1	365	0.0027	316	c.47 others(327): Show c.4741_*4742insCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCCT CCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCT CCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCCGG CCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCC CCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCC ACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCC CATCCCTCTCCTCGCTCCCCTCCCTCTCCCGG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4193		chr2	TogoVar
SAMD11_chr1_918923_949574	933980	A A	AGGGGAGG others(309): Show AGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGTGGCTGCTCCGTTA CAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTAC AGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGAGGCGGC TGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0363 a0001c0001t0012g0363	1	434	0.0023	316	c.843 others(333): Show c.843-1784_843-1783insTGCTCCGTTACAGGTGGGCGGGGGAGGT GGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG GGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54635572	A A	AAACCATC others(309): Show AAACCATCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02615.hp2 others(8): Show HG01884.hp2 HG01891.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02897.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG06807.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0051 a0001c0001t0057 a0001c0001t0075 a0001c0001t0080 a0001c0001t0082 a0004c0013t0002	a0001c0001t0001g0047 a0001c0001t0008g0005 a0001c0001t0009g0129 others(8): Show a0001c0001t0001g0047 a0001c0001t0008g0005 a0001c0001t0009g0129 a0001c0001t0009g0130 a0001c0001t0014g0009 a0001c0001t0051g0261 a0001c0001t0057g0077 a0001c0001t0075g0152 a0001c0001t0080g0175 a0001c0001t0082g0218 a0004c0013t0002g0169	11	262	0.0420	316	c.197 others(335): Show c.197-66480_197-66479insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCG GCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAG CCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCAACCATCTCT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(309): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTAGACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCA CAATCATGGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCC ACCCCAGCCTCCAAGGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0077 a0003c0003t0007g0077	1	414	0.0024	316	c.678 others(331): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACAT TACAAATAATAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTC TGTCACCTAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTC CAGCTCCTGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAI_chr9_124937608_125148528	124983162	T T	TAAAAAAA others(309): Show TAAAAAAAAAAAAAAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	306	0.0033	316	c.132 others(335): Show c.1327-6977_1327-6976insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGCTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	14/17			chr9	TogoVar
SCFD1_chr14_30617319_30740850	30712058	T T	TCTGGTTT others(309): Show TCTGGTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	328	0.0031	316	c.163 others(335): Show c.1630-3851_1630-3850insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTGGTTTATAATTTT	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCNN1D_chr1_1275436_1297025	1288383	T T	TCCCGTGT others(309): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	290	0.0035	316	c.166 others(333): Show c.1662+354_1662+355insTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCCCGAGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289078	A A	AGTCTCTG others(309): Show AGTCTCTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0038	1	290	0.0035	316	c.166 others(335): Show c.1662+1049_1662+1050insCCCGTCCCCCGAGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119510698	C C	CAAGAGCT others(309): Show CAAGAGCTATTCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG02886.hp2 others(5): Show HG02615.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03130.hp1 HG03516.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0009 a0001c0004t0001 a0003c0006t0005	a0001c0001t0001g0269 a0001c0001t0002g0114 a0001c0001t0003g0024 others(5): Show a0001c0001t0001g0269 a0001c0001t0002g0114 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0004g0090 a0001c0002t0009g0276 a0001c0004t0001g0155 a0003c0006t0005g0152	8	290	0.0276	316	c.72+ others(333): Show c.72+13456_72+13457insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCGAATAGCTCTT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SDHA_chr5_213320_262082	260432	A A	ACAGCATT others(309): Show ACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCCCCTGCCAGAGCATTACTGTGAGCTCCTTCTCCTCTCAGAGCC TTGCCGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCT CCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG TCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTG AGCTCCGCCTCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	266	0.0038	316	c.40 others(327): Show c.4012_*4013insCAGCATTACCGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCCCCTGCCAGAGCATTACTGTGAGCTCCT TCTCCTCTCAGAGCCTTGCCGTGAGCTCCGCCCCCCGCCAGAGCATTACC GTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCC GTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGT GAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCC GAGCATTACCGTGTGAGCTCCGCCTCCCGTCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3351		chr5	TogoVar
SENP5_chr3_196862920_196939714	196874213	T T	TAAAATGT others(309): Show TAAAATGTGTCTGCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02280.hp1 HG02080.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0100 a0001c0001t0010g0252 a0001c0001t0001g0100 a0001c0001t0010g0252	2	306	0.0065	316	c.-32 others(333): Show c.-32+6155_-32+6156insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAAACAGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAATGTGTCTGCTT	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEPTIN6_chrX_119611945_119698168	119647958	T T	TTAATTTT others(309): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG06807.hp1 NA20129.hp1 HG02109.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0048 a0001c0001t0002 a0001c0001t0004 a0001c0001t0048	a0001c0001t0002g0114 a0001c0001t0004g0165 a0001c0001t0048g0174 a0001c0001t0002g0114 a0001c0001t0004g0165 a0001c0001t0048g0174	3	252	0.0119	316	c.690 others(333): Show c.690+1978_690+1979insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTA	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	5/10			chrX	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(309): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATAATATATTGTATATTATATATTATATAA TATATTGTATATTATATATTATATAATATATTGTATATTATATATTATAT AATATATTGTATATTATATATTATATAATATATAATATACAATATATTAT ATAATATATAATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	366	0.0027	316	c.-15 others(327): Show c.-1543_-1542insTGTATATTATATATTATATAATATATTGTATATT ATATATTATATAATATATAATATACAATATATTATATAATATATAATATA CAATATATTATATAATATATAATATACAATATATTATATAATATATAATA TACAATATATTATATAATATACAATATATTATATAATATATAATATACAA TATATTATATAATATATAATATACAATATATTATATATAATATACAATAT ATTATATATAATATACAATATATTATATATAATATACAATATACAATATA TTATATAATATACAATATATTATATAATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1419		chr6	TogoVar
SERPINA4_chr14_94556442_94574906	94558268	A A	ACAAGGAC others(309): Show ACAAGGACAGCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	428	0.0023	316	c.-32 others(327): Show c.-3244_-3243insCAAGGACAGCCTTTTTTTTTTTTTTTTTTTTTTT TTGAGAGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCC	SERPINA4	ENSG00000100665.12	transcript	ENST00000557004.6	protein_coding		3173		chr14	TogoVar
SETDB2_chr13_49439274_49500003	49468614	T T	TGTTACCC others(309): Show TGTTACCCTAATTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAAACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0264 a0001c0014t0002g0264	1	406	0.0025	316	c.305 others(331): Show c.305+668_305+669insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAAACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCGTTACCCTAATTTC	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr13	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(309): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00642.hp2 others(33): Show HG00099.hp1 HG00438.hp2 HG00642.hp2 HG01070.hp2 HG01074.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02602.hp1 HG02735.hp1 HG03654.hp2 NA18939.hp2 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18962.hp2 NA18983.hp1 NA18998.hp2 NA19004.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19086.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0023 a0001c0001t0038 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0061 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0362 a0001c0001t0003g0335 a0001c0001t0008g0057 a0001c0001t0008g0121 a0001c0001t0023g0060 a0001c0001t0038g0062 a0001c0002t0001g0254	36	400	0.0900	316	c.137 others(333): Show c.1372+944_1372+945insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTGTCGCTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCTTG GCTCACTGCACGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCATT CCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCACGCCCAGCTATTTTTT TTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTCTC GATCTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAGGA TTACAGGCGTGAGCCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SH3BP5_chr3_15249353_15337586	15252826	C C	CAGGTTAC others(309): Show CAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0080 a0001c0001t0013g0080	1	376	0.0027	316	c.32 others(327): Show c.3259_*3260insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAT TGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGTAACCT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding		1526		chr3	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(309): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0182 a0001c0002t0062g0182	1	214	0.0047	316	c.691 others(335): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401808	G G	GCCCCGCT others(309): Show GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02300.hp1 HG01346.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0013 a0001c0001t0001g0015	2	242	0.0083	316	c.40 others(327): Show c.4087_*4088insGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAG CGGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCG GGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGT GTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3907		chr11	TogoVar
SIGIRR_chr11_400716_419999	402074	A A	ACCCCCGA others(309): Show ACCCCCGACCCGCTCACCCCCGGGCCCCGCTCACACCCGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCCGCTCACCCCCGACCCGCTCACCCCCG ACCCGCTCACCCCAGCCCCCGCTCACCCCCGACCCGCTCACCCCCGGACC CCGCTCACACCGGACCCCGCTCACACCCGGCCCCCGCTCACACCCCGACC CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCCGC TCACAACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCA CACCCGACCCGCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	242	0.0041	316	c.38 others(327): Show c.3821_*3822insGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTG AGCGGGGCCGGGTGTGAGCGGGGCGGGTTGTGAGCGGGGGCCCGGGGTGA GCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGTGTGAGCGG GGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGGTGAGCGG GTCGGGGGTGAGCGGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCG GGGGTGAGCGGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCCGGGGGTGAGCGGGTCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3641		chr11	TogoVar
SIGIRR_chr11_400716_419999	412565	G G	GGGGGGGT others(309): Show GGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGC CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCA TGTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATG CAGTCGGTGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAG GGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGC TCTGACCATGTCTGGATACAGTCGGGCGGGGGGGGGTGCTCAGCTCTGAC CATGTCTGGATGCAGTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	242	0.0041	316	c.-15 others(335): Show c.-154+2257_-154+2258insGACTGCATCCAGACATGGTCAGAGCT GAGCACCCCCCCCCGCCCGACTGTATCCAGACATGGTCAGAGCTGGGCAC CCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGAC TGCATTCAGACATGGTCAGAGCTGGGCACCCCCACCGACTGCATCCAGAC ATGGTCAGAGCTGGGCACCCCCCCCCGACTGTATCCAGACATGGTCAGAG CTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCTC CCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412565	G G	GGTGGGGT others(309): Show GGTGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGC CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCA TGTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATG CAGTCGGCGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAG GGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGC TCTGACCATGTCTGGATACAGTCGGGCGGGGGGGGGTGCTCAGCTCTGAC CATGTCTGGATGCAGTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19080.hp1 HG03831.hp2 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0027 a0001c0003t0001g0028	2	242	0.0083	316	c.-15 others(335): Show c.-154+2257_-154+2258insGACTGCATCCAGACATGGTCAGAGCT GAGCACCCCCCCCCGCCCGACTGTATCCAGACATGGTCAGAGCTGGGCAC CCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGAC TGCATTCAGACATGGTCAGAGCTGGGCACCCCCGCCGACTGCATCCAGAC ATGGTCAGAGCTGGGCACCCCCCCCCGACTGTATCCAGACATGGTCAGAG CTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCTC CCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCAC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232612881	T T	TGTCCTCA others(309): Show TGTCCTCACCCAAATCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTA GTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0270 a0002c0007t0003g0270	1	292	0.0034	316	c.-31 others(337): Show c.-319+16987_-319+16988insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAACT ACAAAAAATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAGATTTGGGTGAGGAC	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	1/22			chr1	TogoVar
SLC10A7_chr4_146248981_146526940	146430027	C C	CAAAAATT others(309): Show CAAAAATTAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0180 a0001c0001t0006g0180	1	244	0.0041	316	c.435 others(335): Show c.435+12755_435+12756insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCTTAATTTTT	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	5/11			chr4	TogoVar
SLC12A6_chr15_34224784_34342781	34313236	A A	AAGGAACA others(309): Show AAGGAACAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18964.hp2 NA18962.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0118 a0001c0001t0001g0122	2	274	0.0073	316	c.271 others(335): Show c.271+23173_271+23174insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGTTCCT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC19A2_chr1_169458909_169490944	169473717	C C	CAAAATAA others(309): Show CAAAATAAACAGGAGGTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTA ACAAGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAGAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19079.hp1 NA19009.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0097 a0001c0001t0001g0104	2	386	0.0052	316	c.807 others(333): Show c.807+3437_807+3438insTTTTTTCTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACACCTCCTGTTTATTTT	SLC19A2	ENSG00000117479.15	transcript	ENST00000236137.10	protein_coding	2/5			chr1	TogoVar
SLC22A12_chr11_64586220_64607344	64596247	A A	AATGGATG others(309): Show AATGGATGGATGGATGGAATGGATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATG GATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGG ATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAG TTGCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGA ATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGA ATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03942.hp1 NA19074.hp1 HG02004.hp2 HG03942.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0002 a0001c0002t0002 a0001c0007t0002	a0001c0002t0002g0232 a0001c0002t0002g0243 a0001c0007t0002g0233 a0001c0002t0002g0232 a0001c0002t0002g0243 a0001c0007t0002g0233	3	390	0.0077	316	c.831 others(333): Show c.831-2252_831-2251insATGGATGGATGGATGGATGGGATGGATG GATGGATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATG GATGGATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGG ATGGATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGG ATAGTTGCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAG TTGAATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGA TGGAATGGATGGATGGATGGGATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596249	T T	TGGATGGA others(309): Show TGGATGGATGGATGGAATGGATGGATGGATGGATGGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGA TGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGAT GAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTT GCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAAT GGATGGATGCATGGATGGATGGATGGATGGATGGAATGGATGGATGGATG GAATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01943.hp1 HG01928.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0237 a0001c0002t0002g0251 a0001c0002t0002g0237 a0001c0002t0002g0251	2	390	0.0051	316	c.831 others(333): Show c.831-2252_831-2251insATGGATGGATGGATGGATGGGATGGATG GATGGATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATG GATGGATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGG ATGGATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGG ATAGTTGCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAG TTGAATGGATGGATGCATGGATGGATGGATGGATGGATGGAATGGATGGA TGGATGGAATGGATGGATGGATGGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596249	T T	TGGATGGA others(309): Show TGGATGGATGGATGGAATGGATGGATGGATGGATGGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGA TGGATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGAT GGATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGAT AGTTGCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTT GAATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATG GAATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	390	0.0026	316	c.831 others(333): Show c.831-2252_831-2251insATGGATGGATGGATGGATGGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATA GATGGATGGATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGA ATGGATGGATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTG ATGGATAGTTGCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGG ATAGTTGAATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGGA TGGATGGAATGGATGGATGGATGGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A9_chr11_63364785_63415294	63378230	A A	AGAAAAAA others(309): Show AGAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02055.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0052 a0001c0002t0048 a0001c0001t0052 a0001c0002t0048	a0001c0001t0052g0063 a0001c0002t0048g0083 a0001c0001t0052g0063 a0001c0002t0048g0083	2	346	0.0058	316	c.954 others(333): Show c.954+2474_954+2475insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGAAAAAAATTTT	SLC22A9	ENSG00000149742.10	transcript	ENST00000279178.4	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC25A16_chr10_68472998_68532523	68524362	T T	TAAAACTT others(309): Show TAAAACTTCGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAG CCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01255.hp2 HG01257.hp1 others(6): Show HG00639.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01934.hp1 HG02683.hp2 HG04228.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0034 a0001c0001t0048 a0001c0001t0049	a0001c0001t0001g0295 a0001c0001t0009g0010 a0001c0001t0009g0297 others(5): Show a0001c0001t0001g0295 a0001c0001t0009g0010 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0014g0294 a0001c0001t0034g0291 a0001c0001t0048g0296 a0001c0001t0049g0300	9	312	0.0289	316	c.130 others(333): Show c.130+2883_130+2884insTGTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTGTCTCCCAGGTTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTG TATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGAGACGAAGTTTT	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding	1/8			chr10	TogoVar
SLC25A16_chr10_68472998_68532523	68524362	T T	TAAAACTT others(309): Show TAAAACTTCGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAG CCGGGCGTGTTTGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0293 a0001c0001t0014g0293	1	312	0.0032	316	c.130 others(333): Show c.130+2883_130+2884insTGTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTGTCTCCCAGGTTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCAAACACGCCCGGCTAATTTTTTG TATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGAGACGAAGTTTT	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding	1/8			chr10	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(309): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0049 a0001c0001t0014g0051 a0001c0001t0014g0049 a0001c0001t0014g0051	2	182	0.0110	316	c.100 others(335): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F3_chr1_233899676_234329511	234220187	T T	TCGCAATA others(309): Show TCGCAATAAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTGGGACTAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	158	0.0063	316	c.284 others(335): Show c.284-11213_284-11212insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGACTACCGCAATAAGTATTTCTT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC37A1_chr21_42508852_42586426	42570178	C C	CCATGTGA others(309): Show CCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTT GCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGT TGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGTGGGCAGGGT GGCCGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGG TGGCCGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGG GTGGCCGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAG GGTGGCCGTTGCCATGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0095 a0001c0001t0050g0095	1	356	0.0028	316	c.142 others(335): Show c.1423+1751_1423+1752insCGGCCTGGTTCTGAGAAGCGGCGGGC AGGGTGGCCGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGG CAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGC GGTGGGCAGGGTGGCCGTTGCCATGTGACACACGGCCTGGTTCTGAGAAG CGGCGGGCAGGGTGGCCGTTGCCATGTGACACACGGCCTGGTTCTGAGAA GCGGCGGGCAGGGTGGCCGTTGCCATGTGACACACGGCCTGGTTCTGAGA AGCGGCAGGCAGGGTGGCCGTTGCCATGTCATGTGACACA	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570331	T T	TGTTGCCA others(309): Show TGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGG CCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCA GGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGCGGGC AGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGG CAGGGTGGCCATTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGG GCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAG CGGTGGGCAGCGTGGCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0294 a0001c0003t0030g0294	1	356	0.0028	316	c.142 others(335): Show c.1423+1898_1423+1899insCATGTGACACACGGCCTGGTTCTGAG AAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGT TCTGAGAAGCGGCAGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGG TTCTGAGAAGTGGCGGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTG GTTCTGAGAAGCGGCGGGCAGGGTGGCCATTGCCATGTGACACACGGCCT GGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACA CGGCCTGGTTCTGAGAAGCGGTGGGCAGCGTGGCCGTTGC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(309): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG01070.hp2 others(11): Show HG00642.hp2 HG00673.hp2 HG01070.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG02004.hp2 HG02300.hp2 NA18747.hp1 NA18969.hp1 NA18982.hp1 NA18985.hp1 NA18994.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0151 others(11): Show a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0151 a0001c0001t0001g0262 a0001c0001t0001g0285 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0002g0045 a0001c0001t0002g0137 a0002c0002t0001g0296	14	360	0.0389	316	c.148 others(335): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(309): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0130 a0010c0009t0001g0130	1	360	0.0028	316	c.148 others(335): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8344878	C C	CATCCATC others(309): Show CATCCATCCACATATCCACCATCCACCCATCCAAATATCCACTTCTCCAT ATATACATCCATCCATCTATCCATCCATCCATCCACATATCCACCCATCC ACCCATCCAAATATCCACTTCTCCTTAGATACATCCATCCATCTATCCTC CATCCACCCATCTAAATATCCACTTCTCCATATATCCATCCATCCGTCCA CCCATCCATCCATCCATCATCTATCCATCCATCCACCCATCTAAATATCC ACTTCTTCATATATCCATCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCCTCCATCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	388	0.0026	316	c.86 others(325): Show c.865_*866insATCCATCCACATATCCACCATCCACCCATCCAAATA TCCACTTCTCCATATATACATCCATCCATCTATCCATCCATCCATCCACA TATCCACCCATCCACCCATCCAAATATCCACTTCTCCTTAGATACATCCA TCCATCTATCCTCCATCCACCCATCTAAATATCCACTTCTCCATATATCC ATCCATCCGTCCACCCATCCATCCATCCATCATCTATCCATCCATCCACC CATCTAAATATCCACTTCTTCATATATCCATCCACCCATCCATCCATCCA TCCATCCATCCATCCATCCCTCCATCCACA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding		714		chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8344879	C C	CATCCACA others(309): Show CATCCACATATCCACCCATCCACCCATCCAAATATCCACTTCTCCATATA TACATCCATCCATCTATCCATCCATCCATCCACATATCCACCCATCCACC CATCCAAATATCCACTTCTCCTTAGATACATCCATCCATCTATCCATCCA TCCACCCATCTAAATATCCACTTCTCCATATATCCATCCATCCGTCCACC CATCCATCCATCCATCCATCTATCCATCCATCCACCCATCTAAATATCCA CTTCTTCATATATCCATCCATCCACCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02074.hp1 NA18962.hp1 HG02015.hp2 HG02074.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0106 a0001c0001t0001g0130 a0001c0005t0001g0296 a0001c0001t0001g0106 a0001c0001t0001g0130 a0001c0005t0001g0296	3	388	0.0077	316	c.86 others(325): Show c.866_*867insATCCACATATCCACCCATCCACCCATCCAAATATCC ACTTCTCCATATATACATCCATCCATCTATCCATCCATCCATCCACATAT CCACCCATCCACCCATCCAAATATCCACTTCTCCTTAGATACATCCATCC ATCTATCCATCCATCCACCCATCTAAATATCCACTTCTCCATATATCCAT CCATCCGTCCACCCATCCATCCATCCATCCATCTATCCATCCATCCACCC ATCTAAATATCCACTTCTTCATATATCCATCCATCCACCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCACAT	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding		715		chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8344885	T T	TCCACATA others(309): Show TCCACATATCCACCCATCCACCCATCCAAATATCCACTTCTCCATATATA CATCCATCCATCTATCCATCCATCCATCCACATATCCACCCATCCACCCA TCCAAATATCCACTTCTCCTTAGATACATCCATCCATCTATCCATCCATC CACCCATCTAAATATCCACTTCTCCATATATCCATCCATCCGTCCACCCA TCCATCCATCCATCCATCTATCCATCCATCCACCCATCTAAATATCCACT TCTTCATATATCCATCCATCCACCCATCCATCCATCCATCCATCCATCCA TCCATCCACATATCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	388	0.0026	316	c.87 others(325): Show c.872_*873insCCACATATCCACCCATCCACCCATCCAAATATCCAC TTCTCCATATATACATCCATCCATCTATCCATCCATCCATCCACATATCC ACCCATCCACCCATCCAAATATCCACTTCTCCTTAGATACATCCATCCAT CTATCCATCCATCCACCCATCTAAATATCCACTTCTCCATATATCCATCC ATCCGTCCACCCATCCATCCATCCATCCATCTATCCATCCATCCACCCAT CTAAATATCCACTTCTTCATATATCCATCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCACATATCCAG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding		721		chr1	TogoVar
SLC8A2_chr19_47423017_47476893	47451314	T T	TTTGTTTT others(309): Show TTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCACCCGCCACCGCGCCCGGCTAATTTTTTGCATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0116 a0001c0001t0003g0117	2	316	0.0063	316	c.134 others(335): Show c.1341-3084_1341-3083insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATGC AAAAAATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCTGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAA	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	3/9			chr19	TogoVar

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