Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DCAF8L2_chrX_27585344_27754942	27736093	C C	CAAAATGA others(314): Show CAAAATGAAACCAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0102 a0012c0012t0001g0102	1	262	0.0038	321	c.-58 others(340): Show c.-58-10731_-58-10730insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGAAACCAAA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCC_chr18_52335197_53540899	52704091	T T	TAAAAGTA others(314): Show TAAAAGTAGATCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03195.hp2 HG02895.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0008 a0001c0005t0019 a0001c0003t0008 a0001c0005t0019	a0001c0003t0008g0013 a0001c0005t0019g0105 a0001c0003t0008g0013 a0001c0005t0019g0105	2	114	0.0175	321	c.92- others(338): Show c.92-47950_92-47949insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGTAGATCTA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52925884	T T	TAAAGAGA others(314): Show TAAAGAGATTTAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0012 a0002c0004t0003g0012	1	114	0.0088	321	c.985 others(336): Show c.985+517_985+518insGAGATTTAAGGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53460169	T T	TGGGTCTT others(314): Show TGGGTCTTCATATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00642.hp2 others(14): Show HG00099.hp2 HG00280.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01106.hp2 HG01255.hp1 HG01257.hp1 HG01884.hp1 HG02486.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0007 others(4): Show a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0002c0001 a0002c0004 a0002c0011	a0001c0002t0003 a0001c0003t0003 a0001c0003t0013 others(10): Show a0001c0002t0003 a0001c0003t0003 a0001c0003t0013 a0001c0003t0016 a0001c0003t0028 a0001c0003t0032 a0001c0007t0003 a0001c0010t0003 a0002c0001t0018 a0002c0004t0003 a0002c0004t0013 a0002c0004t0014 a0002c0011t0003	a0001c0002t0003g0059 a0001c0003t0003g0041 a0001c0003t0003g0073 others(14): Show a0001c0002t0003g0059 a0001c0003t0003g0041 a0001c0003t0003g0073 a0001c0003t0003g0097 a0001c0003t0013g0075 a0001c0003t0016g0007 a0001c0003t0028g0076 a0001c0003t0032g0109 a0001c0007t0003g0099 a0001c0010t0003g0096 a0002c0001t0018g0034 a0002c0004t0003g0012 a0002c0004t0003g0023 a0002c0004t0003g0083 a0002c0004t0013g0042 a0002c0004t0014g0043 a0002c0011t0003g0090	17	114	0.1491	321	c.361 others(338): Show c.3619+724_3619+725insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCGGGTCTTCATATT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24188358	T T	TAAAAGTT others(314): Show TAAAAGTTACCAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02738.hp2 HG01346.hp2 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0015 a0001c0001t0015 a0002c0002t0015	a0001c0001t0015g0036 a0002c0002t0015g0039 a0001c0001t0015g0036 a0002c0002t0015g0039	2	216	0.0093	321	c.102 others(340): Show c.1024-9727_1024-9726insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAATTGGTAACTTTT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	8/9			chr6	TogoVar
DCLK1_chr13_35763652_36136382	36083017	T T	TAAGAATC others(314): Show TAAGAATCTGAAATCTCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01433.hp2 HG01069.hp2 HG01433.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0005 a0001c0005t0001 a0001c0006t0005	a0001c0005t0001g0148 a0001c0006t0005g0209 a0001c0005t0001g0148 a0001c0006t0005g0209	2	230	0.0087	321	c.723 others(340): Show c.723+28851_723+28852insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCACGCCCGGCCGAGATTTCAGATTCTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCP1B_chr12_1941053_2009457	1980675	A A	ACCTTTAA others(314): Show ACCTTTAACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCCGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTAATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01515.hp1 HG01168.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0123 a0001c0001t0001g0125	2	378	0.0053	321	c.319 others(340): Show c.319+12588_319+12589insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCGGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAGTTAAAGG	DCP1B	ENSG00000151065.14	transcript	ENST00000280665.11	protein_coding	3/8			chr12	TogoVar
DCP1B_chr12_1941053_2009457	1980675	A A	ACCTTTAA others(314): Show ACCTTTAACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTAATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02897.hp1 NA18942.hp1 HG01256.hp1 HG02897.hp1 NA18942.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0016 a0001c0001 a0016c0016	a0001c0001t0001 a0016c0016t0001 a0001c0001t0001 a0016c0016t0001	a0001c0001t0001g0063 a0001c0001t0001g0151 a0016c0016t0001g0071 a0001c0001t0001g0063 a0001c0001t0001g0151 a0016c0016t0001g0071	3	378	0.0079	321	c.319 others(340): Show c.319+12588_319+12589insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAGTTAAAGG	DCP1B	ENSG00000151065.14	transcript	ENST00000280665.11	protein_coding	3/8			chr12	TogoVar
DCUN1D4_chr4_51838153_51921837	51897576	T T	TAAAAATA others(314): Show TAAAAATAACCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0112 a0001c0001t0010g0112	1	262	0.0038	321	c.507 others(338): Show c.507-1682_507-1681insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAACCAA	DCUN1D4	ENSG00000109184.15	transcript	ENST00000334635.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
DEFB119_chr20_31372164_31395590	31394336	T T	TAAAAAAT others(314): Show TAAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18959.hp2 NA18957.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	370	0.0054	321	c.-38 others(332): Show c.-3854_-3853insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTGTATTTTTT	DEFB119	ENSG00000180483.7	transcript	ENST00000376321.4	protein_coding		3747		chr20	TogoVar
DGKB_chr7_14140049_14907751	14806771	T T	TAAGAATC others(314): Show TAAGAATCCCTGATGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACAGCGAAACCCCGTCTCTACTAAAAATGCAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0125 a0001c0009t0009g0125	1	148	0.0068	321	c.70+ others(338): Show c.70+34422_70+34423insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGCATTTTTAGTAGAGACGGGGTTTCGCTGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGCATCAGGGATTCTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DIDO1_chr20_62872743_62931505	62875290	G G	GCACCCCC others(314): Show GCACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCACCCCCACCCCC ACCCGCACCCGCACCCGCACCCGCACCCCCCACCCGCACCCGCACCCCCA CCCCCACCCCGACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACC CGCACACCCACCCCCACCCCCACCCGCACCCGCACCCGCACCCCCCACCC GCACCCGCACCCGCACCCCCACCCCCACCCCCCACCCCCCACCCCCACCC CCACCCCAACCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCA CCCGCACCCGCACCCTCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0041 a0001c0028t0001g0041	1	320	0.0031	321	c.39 others(332): Show c.3942_*3943insGGGGTGAGGGTGCGGGTGCGGGTGAGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGTTGGGGTGGGGGTGGGGGTGG GGGGTGGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGGTG CGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGTGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTCGGGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGGTGCGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGT GCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2452		chr20	TogoVar
DIP2C_chr10_269201_694668	516740	G G	GTAGGGTG others(314): Show GTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGG GTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGACGGGGTA GGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGG GAGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGG TAGGGTGGGGGGGACACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGG TGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTGGGGGGGGAC AGGGGGTAGGGTGGGGGGGGAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	88	0.0114	321	c.86- others(338): Show c.86-30211_86-30210insGTCCCCCCCCACCCTACCCCCTGTCCCC CCCCACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTAC CCCGTGTCCCCCCCCACCCTACCCCCTGTGTCCCCCCCACCCTACCCCGT GTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCTCCCACCC TACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCC GTCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTG TCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608557	C C	CCACACAC others(314): Show CCACACACACACACCCCCCACACACACACACACACCCCCCCCCACACACA CACACCCCCCCCCCCACACACACACCCCCCCCACACACACACCCCCCCCA CACACACACACCCCCCACACACACACACACCCCCCCACACACACACACAC CCCCCCACACACACACACCCCCCCCCCACACACACACACCCCCCCCCCAC ACACACACACATCCCCCCCCACACACACACACATCCCCCCCCACACACAC ACACATCCCCCCCCACACACACACACATCCCCCCCCACACACACACACAT CCCCCCCCACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	88	0.0114	321	c.85+ others(338): Show c.85+80936_85+80937insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGT GTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGG GGGGGGTGTGTGTGTGTGGGGGGGGGGTGTGTGTGTGTGGGGGGGTGTGT GTGTGTGTGGGGGGGTGTGTGTGTGTGTGGGGGGTGTGTGTGTGTGGGGG GGGTGTGTGTGTGGGGGGGGTGTGTGTGTGGGGGGGGGGGTGTGTGTGTG TGGGGGGGGGTGTGTGTGTGTGTGTGGGGGGTGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DMD_chrX_31114222_33216549	31452231	T T	TAAAAAAA others(314): Show TAAAAAAATAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0010 a0003c0014t0010	a0003c0014t0010g0015 a0003c0014t0010g0015	1	126	0.0079	321	c.893 others(340): Show c.8938-7605_8938-7604insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTATTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31452231	T T	TAAAAAAA others(314): Show TAAAAAAATAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATGGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0057 a0005c0057	a0005c0057t0001 a0005c0057t0001	a0005c0057t0001g0109 a0005c0057t0001g0109	1	126	0.0079	321	c.893 others(340): Show c.8938-7605_8938-7604insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTATTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31452239	T T	TAGCAGGC others(314): Show TAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTG GTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0020 a0005c0023t0020	a0005c0023t0020g0110 a0005c0023t0020g0110	1	126	0.0079	321	c.893 others(340): Show c.8938-7613_8938-7612insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMXL2_chr15_51442791_51627771	51576515	T T	TAAAAGCT others(314): Show TAAAAGCTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	346	0.0029	321	c.88- others(334): Show c.88-335_88-334insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCGGAGCTTTT	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DNAH11_chr7_21538039_21906839	21584948	T T	TAAAAAAA others(314): Show TAAAAAAAATGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp2 NA18522.hp1 HG03209.hp1 HG03486.hp2 NA18522.hp1	a0007 a0082 a0088 a0007 a0082 a0088	a0007c0165 a0082c0157 a0088c0158 a0007c0165 a0082c0157 a0088c0158	a0007c0165t0001 a0082c0157t0002 a0088c0158t0001 a0007c0165t0001 a0082c0157t0002 a0088c0158t0001	a0007c0165t0001g0008 a0082c0157t0002g0241 a0088c0158t0001g0012 a0007c0165t0001g0008 a0082c0157t0002g0241 a0088c0158t0001g0012	3	298	0.0101	321	c.171 others(340): Show c.1710+2940_1710+2941insTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCC GGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTAG	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	9/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAATATAT others(314): Show AAATATATATATATATATATATATATACACACATACATATACATATATAC ACATACATATACATATATACACATACATATACATATATACACATACATAT ATATATACATATATATACATATATATATACATATATATACATATATATAT ACGTATATATATATACGTGTATATATACACACGTATACGTGTGTATATAT ACACATATATATATACACATATATATATATATACACATATATATATACAC ATATATATATATATACACATATATATATATACACATATATATATACACAC ACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0001	a0015c0013t0001g0210 a0015c0013t0001g0210	1	266	0.0038	321	c.730 others(340): Show c.7305+1447_7305+1448insATATATATATATATATATATGTGTGT GTATATATATATGTGTATATATATATATGTGTATATATATATATATGTGT ATATATATATGTGTATATATATATATATGTGTATATATATATGTGTATAT ATACACACGTATACGTGTGTATATATACACGTATATATATATACGTATAT ATATATGTATATATATGTATATATATATGTATATATATGTATATATATAT GTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTAT ATATGTATATGTATGTGTGTATATATATATATATATATATATATT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(314): Show CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTC ACCATCACCATCACCATCACCACCACCTCCACCACCACCACCTCCACCAT CACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACC ATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCA CCACCTCCTTCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0065 a0001c0030t0001g0065	1	256	0.0039	321	c.323 others(340): Show c.3234+1467_3234+1468insTCCACCATCACCACCACCACCTCCAC CATCACCACCTCCTTCACCATCACCATCACCATCACCACCACCTCCACCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCATCACCACCTCCTTCACCATCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCTCCTCCATCACCACC ACCATCTTCACCATCACCACCTCCTTCACCATCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOP1A_chr6_83062671_83173471	83145207	A A	ATATATAA others(314): Show ATATATAATATGTATATATAATATATATATAATATGTATATATAATATAT ATATATAATATATATAATATATATATATAATATATATATAATATATATAT AATATATATATAATATATATATTTAAAAGTATATATATATAATATATATA TATAATATATATATAATATATATATAATATATATATAATATATATATATA ATATATATATAATATATATATAATATATATATAATATATATATATAATAT ATATATAATATATATATATAATATATATATATAATATATATATATAATAT ATATATAATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03579.hp1 HG02723.hp2 HG03579.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0018 a0006c0006t0004g0019 a0006c0006t0004g0018 a0006c0006t0004g0019	2	298	0.0067	321	c.554 others(338): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATATAATATATATAATATATATATATA ATATATATATAATATATATATAATATATATATAATATATATATTTAAAAG TATATATATATAATATATATATATAATATATATATAATATATATATAATA TATATATAATATATATATATAATATATATATAATATATATATAATATATA TATAATATATATATATAATATATATATAATATATATATATAATATATATA TATAATATATATATATAATATATATATAATATATATATATATT	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38			chr6	TogoVar
DPEP1_chr16_89608642_89643433	89634674	C C	CCCTTCCT others(314): Show CCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCT TCCTTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT CCTTCCTTCCCTTCCTCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0006 a0001c0006t0001g0006	1	250	0.0040	321	c.105 others(338): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTCCTTTCCCTTCCTTCTCCTTTCCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DST_chr6_56452996_56959830	56837910	T T	TAAAGGAC others(314): Show TAAAGGACAAGCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG01884.hp1 HG03209.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0014 a0006c0007t0001g0071 a0006c0007t0001g0014 a0006c0007t0001g0071	2	84	0.0238	321	c.625 others(340): Show c.625+13486_625+13487insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGCTTGTCCTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103			chr6	TogoVar
DTHD1_chr4_36276616_36352511	36323570	T T	TGCTAGGT others(314): Show TGCTAGGTATTTTATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19000.hp1 HG02523.hp2 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0072 a0001c0002t0005g0242 a0001c0002t0005g0072 a0001c0002t0005g0242	2	308	0.0065	321	c.234 others(340): Show c.2340+7097_2340+7098insTTTTATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTAGGTATTTTA	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
DTHD1_chr4_36276616_36352511	36323570	T T	TGCTAGGT others(314): Show TGCTAGGTATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0169 a0001c0002t0006g0169	1	308	0.0033	321	c.234 others(340): Show c.2340+7097_2340+7098insTTTTTTTTTTTTTTTTTTTTTTTTTT TTATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTAGGTATTTTA	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
DTHD1_chr4_36276616_36352511	36323570	T T	TGCTAGGT others(314): Show TGCTAGGTATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00741.hp2 others(4): Show HG00140.hp1 HG00735.hp2 HG00741.hp2 HG01981.hp1 HG02080.hp1 NA18945.hp1 NA20905.hp2	a0001 a0007 a0014 a0001 a0007 a0014	a0001c0002 a0001c0004 a0007c0013 others(1): Show a0001c0002 a0001c0004 a0007c0013 a0014c0041	a0001c0002t0001 a0001c0002t0015 a0001c0004t0013 others(3): Show a0001c0002t0001 a0001c0002t0015 a0001c0004t0013 a0001c0004t0016 a0007c0013t0006 a0014c0041t0001	a0001c0002t0001g0163 a0001c0002t0001g0206 a0001c0002t0015g0165 others(4): Show a0001c0002t0001g0163 a0001c0002t0001g0206 a0001c0002t0015g0165 a0001c0004t0013g0277 a0001c0004t0016g0280 a0007c0013t0006g0235 a0014c0041t0001g0233	7	308	0.0227	321	c.234 others(340): Show c.2340+7097_2340+7098insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTAGGTATTTTA	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
DYNLT5_chr1_66747459_66784047	66762044	C C	CAAGAAAC others(314): Show CAAGAAACCACTTTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0069 a0003c0003t0017g0069	1	402	0.0025	321	c.119 others(338): Show c.119+7283_119+7284insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAACCACTTTCTT	DYNLT5	ENSG00000152760.10	transcript	ENST00000282670.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
EBF2_chr8_25836725_26050413	26005359	T T	TTATATAT others(314): Show TTATATATATATTATATATATAATATATTTTATATATTAAATTATATATA ATATATATTATATATATAAAATATATTATATATTATATAAATATATATAT TTTATATATATAAAATATATATTTTATAATATATAATATAGAAATATATA TTATATAATATATAATTATATATAATTATATATTATATAATATATATTTC TATATTATATATTTATAATGTATAATATATAAATATATTATAAATATATA TTATATACTATATAATGCATTATAAATATATTATATTTATATATTATAAA TATATTACATATTTATATATTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0219 a0001c0002t0011g0219	1	220	0.0046	321	c.551 others(340): Show c.551+27725_551+27726insTAATATATAAATATGTAATATATTTA TAATATATAAATATAATATATTTATAATGCATTATATAGTATATAATATA TATTTATAATATATTTATATATTATACATTATAAATATATAATATAGAAA TATATATTATATAATATATAATTATATATAATTATATATTATATAATATA TATTTCTATATTATATATTATAAAATATATATTTTATATATATAAAATAT ATATATTTATATAATATATAATATATTTTATATATATAATATATATTATA TATAATTTAATATATAAAATATATTATATATATAATATATATATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EED_chr11_86239753_86283810	86259223	T T	TAAAAATC others(314): Show TAAAAATCAGAAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	392	0.0026	321	c.634 others(338): Show c.634+1643_634+1644insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTTTG	EED	ENSG00000074266.23	transcript	ENST00000263360.11	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
EEPD1_chr7_36148254_36306538	36212542	T T	TAATGTAG others(314): Show TAATGTAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCC CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGTGCCCGGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02040.hp2 HG02074.hp1 others(25): Show HG01978.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03654.hp2 HG03927.hp2 HG04115.hp2 NA18612.hp1 NA18944.hp1 NA18979.hp1 NA18999.hp1 NA19011.hp2 NA19064.hp2 NA19065.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0032 a0001c0001t0035 a0001c0004t0011 a0001c0004t0016	a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0211 others(25): Show a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0211 a0001c0001t0001g0264 a0001c0001t0001g0278 a0001c0001t0001g0310 a0001c0001t0002g0074 a0001c0001t0002g0187 a0001c0001t0004g0208 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0047 a0001c0001t0008g0236 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0018g0344 a0001c0001t0018g0345 a0001c0001t0018g0346 a0001c0001t0032g0192 a0001c0001t0035g0100 a0001c0001t0035g0327 a0001c0004t0011g0340 a0001c0004t0011g0341 a0001c0004t0011g0342 a0001c0004t0016g0173	28	346	0.0809	321	c.879 others(340): Show c.879-26428_879-26427insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCCCGGCAATGTAGTGGTTCTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36212542	T T	TAATGTAG others(314): Show TAATGTAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGTGCCCGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00642.hp2 others(62): Show HG00323.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01934.hp1 HG01975.hp2 HG02040.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02970.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04228.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18978.hp1 NA18980.hp1 NA18989.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19074.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0002c0005 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0027 a0001c0001t0037 a0001c0001t0041 a0001c0001t0045 a0001c0001t0051 a0001c0001t0056 a0001c0001t0068 a0001c0001t0069 a0001c0004t0019 a0002c0003t0001 a0002c0003t0002 a0002c0003t0059 a0002c0005t0006 a0003c0002t0017 a0003c0002t0021 a0003c0002t0034 a0003c0002t0040	a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0123 others(62): Show a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0123 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0295 a0001c0001t0001g0323 a0001c0001t0002g0067 a0001c0001t0002g0110 a0001c0001t0002g0124 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0161 a0001c0001t0002g0270 a0001c0001t0002g0330 a0001c0001t0003g0334 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0223 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0240 a0001c0001t0004g0248 a0001c0001t0005g0015 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0007g0034 a0001c0001t0007g0044 a0001c0001t0008g0176 a0001c0001t0009g0331 a0001c0001t0010g0194 a0001c0001t0027g0056 a0001c0001t0037g0106 a0001c0001t0041g0058 a0001c0001t0045g0003 a0001c0001t0051g0260 a0001c0001t0056g0076 a0001c0001t0068g0305 a0001c0001t0069g0312 a0001c0004t0019g0010 a0002c0003t0001g0079 a0002c0003t0001g0162 a0002c0003t0002g0335 a0002c0003t0059g0145 a0002c0005t0006g0277 a0003c0002t0017g0049 a0003c0002t0021g0249 a0003c0002t0034g0071 a0003c0002t0040g0041	65	346	0.1879	321	c.879 others(340): Show c.879-26428_879-26427insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCCCGGCAATGTAGTGGTTCTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36212542	T T	TAATGTAG others(314): Show TAATGTAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGGCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGTGCCCGGC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0006 a0002c0009t0006	a0002c0009t0006g0288 a0002c0009t0006g0288	1	346	0.0029	321	c.879 others(340): Show c.879-26428_879-26427insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGGCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCCCGGCAATGTAGTGGTTCTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36212542	T T	TAATGTAG others(314): Show TAATGTAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCAC TGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGTGCCCGGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02280.hp1 HG02622.hp2 others(6): Show HG02027.hp1 HG02280.hp1 HG02622.hp2 HG03098.hp1 HG03209.hp2 NA18985.hp2 NA18988.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0033 a0001c0004t0006 a0001c0004t0012	a0001c0001t0001g0111 a0001c0001t0001g0281 a0001c0001t0001g0284 others(6): Show a0001c0001t0001g0111 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0296 a0001c0001t0002g0012 a0001c0001t0003g0337 a0001c0001t0033g0232 a0001c0004t0006g0258 a0001c0004t0012g0196	9	346	0.0260	321	c.879 others(340): Show c.879-26428_879-26427insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCT CGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCCCGGCAATGTAGTGGTTCTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40024228	T T	TAAGAGAT others(314): Show TAAGAGATGGGGGTCTCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0048 a0003c0010t0001g0048	1	368	0.0027	321	c.438 others(340): Show c.4389+1639_4389+1640insGGCCGGGCGTGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGATGGGGGTCTC	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	32/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF3B_chr7_2349827_2385745	2359041	A A	AGACCCTG others(314): Show AGACCCTGTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	384	0.0026	321	c.500 others(338): Show c.500-1655_500-1654insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGACCCTGTCTCTTT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3E_chr8_108196216_108253717	108198690	A A	AAGCAACT others(314): Show AAGCAACTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02280.hp2 others(4): Show HG01884.hp2 HG01891.hp1 HG02280.hp2 HG02922.hp1 HG03471.hp1 HG03491.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0178 a0001c0001t0006g0179 others(4): Show a0001c0001t0006g0009 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0188 a0001c0001t0006g0190 a0001c0001t0006g0195	7	348	0.0201	321	c.31 others(332): Show c.3194_*3195insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTTGCT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding		2525		chr8	TogoVar
EIF4G3_chr1_20801479_21181897	21166095	T T	TGACTATA others(314): Show TGACTATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02040.hp2 HG02602.hp1 others(13): Show HG01256.hp1 HG02040.hp2 HG02602.hp1 HG03239.hp1 HG03710.hp1 HG04199.hp1 NA18942.hp1 NA18947.hp2 NA18964.hp2 NA18988.hp2 NA19004.hp1 NA19012.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0023 a0001c0001t0001 a0001c0001t0004 a0001c0001t0023	a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0237 others(13): Show a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0235 a0001c0001t0023g0029	16	312	0.0513	321	c.-27 others(342): Show c.-272+10079_-272+10080insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATAGTC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
ELMOD3_chr2_85349769_85396748	85362448	T T	TAAGATAA others(314): Show TAAGATAATTGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18952.hp1 NA18973.hp2 NA18943.hp2 NA18952.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274	3	386	0.0078	321	c.129 others(336): Show c.129+201_129+202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAATTGCCA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELOVL5_chr6_53262404_53353950	53305333	C C	CCCCCCCA others(314): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTCGCTGGGCAGGGGGCTGAC CCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCGGGCAGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCACGGGGCTGACCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03579.hp1 HG02647.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0197 a0001c0001t0001g0165 a0001c0001t0001g0197	2	320	0.0063	321	c.-8- others(336): Show c.-8-9627_-8-9626insTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCTGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGC CCCGTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCTGCCCGGCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCC CCTGCCCAGCGAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53305341	C C	CCTCCCTC others(314): Show CCTCCCTCCCGGACGGGGCGGCTCGCTGGGCAGGGGGCTGACCCCCCCAC CTCCCTCCCAGACGGGGCGGCTCGCCGGGCAGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCACGGGGCTGACCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18522.hp2 HG02280.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	320	0.0063	321	c.-8- others(336): Show c.-8-9635_-8-9634insTTGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG CCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGTCAGCCCCGTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCTGCCCGGCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GTCAGCCCCCTGCCCAGCGAGCCGCCCCGTCCGGGAGGGAG	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ENPP3_chr6_131632302_131752410	131694954	T T	TTGGCTAA others(314): Show TTGGCTAAGCCTATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG02451.hp1 others(10): Show HG00099.hp1 HG00642.hp2 HG02451.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG03098.hp1 HG03195.hp2 HG03490.hp2 HG06807.hp1 NA19030.hp1 NA20805.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0019 a0003c0008 others(1): Show a0001c0002 a0001c0019 a0003c0008 a0005c0007	a0001c0002t0001 a0001c0002t0002 a0001c0019t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0019t0001 a0003c0008t0002 a0005c0007t0002	a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 others(10): Show a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0120 a0001c0002t0002g0023 a0001c0019t0001g0014 a0003c0008t0002g0080 a0003c0008t0002g0081 a0003c0008t0002g0095 a0005c0007t0002g0269	13	278	0.0468	321	c.141 others(340): Show c.1412+1346_1412+1347insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTGGCTAAGCCTATTCT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130952343	T T	TAAAATGT others(314): Show TAAAATGTTCACTAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCTGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00544.hp2 others(38): Show HG00140.hp1 HG00280.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG01071.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01978.hp2 HG01993.hp1 HG02258.hp1 HG02293.hp1 HG02602.hp1 HG02698.hp2 HG02723.hp2 HG03139.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 NA18747.hp2 NA18959.hp1 NA18965.hp1 NA18973.hp2 NA18995.hp2 NA19003.hp2 NA19009.hp1 NA19066.hp1 NA19077.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0005c0006 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0002t0002 a0001c0009t0001 a0005c0006t0001 a0010c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0136 others(38): Show a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0194 a0001c0001t0001g0245 a0001c0001t0002g0159 a0001c0001t0004g0004 a0001c0001t0004g0163 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0012g0137 a0001c0001t0013g0129 a0001c0002t0002g0130 a0001c0002t0002g0138 a0001c0009t0001g0131 a0005c0006t0001g0156 a0005c0006t0001g0167 a0010c0014t0001g0135	41	356	0.1152	321	c.705 others(338): Show c.705+2761_705+2762insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCAGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTTTAGTGAACATTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(314): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	312	0.0032	321	c.231 others(340): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA3_chr3_89102621_89487134	89257673	T T	TAAAAATA others(314): Show TAAAAATAACAACTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGATACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0025 a0003c0004t0002g0025	1	200	0.0050	321	c.814 others(340): Show c.814+47169_814+47170insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGATACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAACAACTGGA	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX1_chr1_225805124_225850563	225807892	C C	CAAAAATT others(314): Show CAAAAATTAGCTGGGTGTGAGGCCGGGCGCGGTGGCTCACACCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02897.hp2 NA18969.hp1 others(1): Show HG00558.hp2 HG02897.hp2 NA18969.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0015 others(1): Show a0001c0001 a0001c0004 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0001c0015t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0015t0001 a0002c0002t0002	a0001c0001t0001g0019 a0001c0004t0001g0327 a0001c0015t0001g0016 others(1): Show a0001c0001t0001g0019 a0001c0004t0001g0327 a0001c0015t0001g0016 a0002c0002t0002g0378	4	422	0.0095	321	c.-22 others(332): Show c.-2283_-2282insAAAAATTAGCTGGGTGTGAGGCCGGGCGCGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding		2231		chr1	TogoVar
ESR1_chr6_151802682_152108274	151955598	G G	GAATAAAT others(314): Show GAATAAATAAATAGAAATAGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	250	0.0040	321	c.109 others(342): Show c.1096+11109_1096+11110insCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAA AACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATAAATAGAAATAG	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
EZR_chr6_158760748_158824368	158783387	T T	TAAAAAGA others(314): Show TAAAAAGATTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGTCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTTAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	312	0.0032	321	c.698 others(336): Show c.698+132_698+133insTTTTTTTTTTTTTTTTAAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGACGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGGAATCTTTTT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	7/13			chr6	TogoVar
FADD_chr11_70198296_70212390	70203989	T T	TAGAAAAC others(314): Show TAGAAAACTCACTGAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	408	0.0025	321	c.286 others(336): Show c.286+260_286+261insCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAACTCACTGAAG	FADD	ENSG00000168040.5	transcript	ENST00000301838.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM133B_chr7_92555758_92595390	92576378	T T	TAAAAGAC others(314): Show TAAAAGACAAAGAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATGGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	328	0.0031	321	c.466 others(336): Show c.466-558_466-557insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCCA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTCTCTTTGTCTTTT	FAM133B	ENSG00000234545.8	transcript	ENST00000445716.6	protein_coding	7/10			chr7	TogoVar

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