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
DNAH7_chr2_195732703_196073837	195887156	T T	TAAAAAGC others(313): Show TAAAAAGCTTGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0048 a0048	a0048c0027 a0048c0027	a0048c0027t0001 a0048c0027t0001	a0048c0027t0001g0023 a0048c0027t0001g0023	1	256	0.0039	320	c.540 others(337): Show c.5407-885_5407-884insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCTGCAAGCTTTTT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	33/64			chr2	TogoVar
DNAJC17_chr15_40760161_40812473	40808120	G G	GCAAAGCT others(313): Show GCAAAGCTACTCTTTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTT TCGCTCTGTCGCCCAGGCTGGAGTGGCAGTGGCGCAATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGTG TAGCTGGGACTACAGGCACGCGCCAACCATGCCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTCGGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	358	0.0028	320	c.-67 others(329): Show c.-675_-674insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGC CGGGCATGGTTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATT GCGCCACTGCCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAATTAAAGAGTAGCTTTG	DNAJC17	ENSG00000104129.10	transcript	ENST00000220496.9	protein_coding		648		chr15	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(313): Show CCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCTCCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACC ACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCAC CACCACCACCTCCATCACCACCACCTCCACCATCACCACCACCACCTCCA CCACCACCACCTCCACCACCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0006 a0001c0046t0006	a0001c0046t0006g0063 a0001c0046t0006g0063	1	256	0.0039	320	c.323 others(339): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAC CACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCATCA CCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCACCACCACCACCTCCACCATCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCTCCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCACCACCACCTCCACCACCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(313): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA GCATCTTCACCAACACCACCACCTCCACCACCACCAGCATCTTCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCA CCTCCACCTCCACCATCACCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0014 a0014	a0014c0065 a0014c0065	a0014c0065t0001 a0014c0065t0001	a0014c0065t0001g0165 a0014c0065t0001g0165	1	256	0.0039	320	c.323 others(339): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCAGCATCTTCACCAACACCACCACCTCCAC CACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACC ACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(313): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCTC CACTATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA GCATCTTCACCAACACCACCACCTCCACCACCACCAGCATCTTCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCA CCTCCACCTCCACCATCACCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp2 HG01243.hp1 others(10): Show HG01069.hp1 HG01109.hp2 HG01243.hp1 HG01496.hp2 HG02109.hp1 HG02148.hp1 HG02572.hp1 HG02572.hp2 HG02723.hp2 NA18961.hp2 NA19007.hp2 NA19060.hp1 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0011 a0028 a0033 a0050	a0001c0002 a0001c0049 a0002c0005 others(10): Show a0001c0002 a0001c0049 a0002c0005 a0002c0008 a0002c0077 a0002c0112 a0003c0001 a0005c0145 a0011c0156 a0011c0161 a0028c0116 a0033c0088 a0050c0149	a0001c0002t0001 a0001c0049t0013 a0002c0005t0001 others(10): Show a0001c0002t0001 a0001c0049t0013 a0002c0005t0001 a0002c0008t0001 a0002c0077t0003 a0002c0112t0001 a0003c0001t0001 a0005c0145t0001 a0011c0156t0001 a0011c0161t0002 a0028c0116t0002 a0033c0088t0003 a0050c0149t0010	a0001c0002t0001g0253 a0001c0049t0013g0219 a0002c0005t0001g0196 others(10): Show a0001c0002t0001g0253 a0001c0049t0013g0219 a0002c0005t0001g0196 a0002c0008t0001g0114 a0002c0077t0003g0018 a0002c0112t0001g0224 a0003c0001t0001g0135 a0005c0145t0001g0172 a0011c0156t0001g0052 a0011c0161t0002g0234 a0028c0116t0002g0233 a0033c0088t0003g0003 a0050c0149t0010g0071	13	256	0.0508	320	c.323 others(339): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCACCACCACCACCTCCACTATCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCAGCATCTTCACCAACACCACCACCTCCAC CACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACC ACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP10_chr2_114437641_115850780	114505230	G G	GAAAGGAT others(313): Show GAAAGGATAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAACTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTGGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0016 a0006c0006t0006g0016	1	56	0.0179	320	c.60+ others(337): Show c.60+62407_60+62408insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAACTCGGCT CACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTGGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTAAAGGATAAATTTTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DTHD1_chr4_36276616_36352511	36323570	T T	TGCTAGGT others(313): Show TGCTAGGTATTTTATTTTATTTTATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAAGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0238 a0002c0003t0006g0238	1	308	0.0033	320	c.234 others(339): Show c.2340+7097_2340+7098insTTTTATTTTATTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAAGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTAGGTATTTTA	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(313): Show TGCTAGGTATTTTATTTTATTTTTTATTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0073 a0001c0002t0005g0073	1	308	0.0033	320	c.234 others(339): Show c.2340+7097_2340+7098insTTTTATTTTTTATTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTAGGTATTTTA	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(313): Show TGCTAGGTATTTTATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0071 a0001c0002t0005g0071	1	308	0.0033	320	c.234 others(339): Show c.2340+7097_2340+7098insTTTTATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTAGGTATTTTA	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(313): Show TGCTAGGTATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp1 HG01257.hp1 others(7): Show HG00323.hp2 HG01109.hp1 HG01257.hp1 HG01358.hp2 HG01496.hp1 HG01517.hp1 HG02004.hp2 NA18993.hp2 NA19066.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0002t0006 a0001c0004t0003 others(1): Show a0001c0002t0005 a0001c0002t0006 a0001c0004t0003 a0001c0004t0013	a0001c0002t0005g0029 a0001c0002t0006g0141 a0001c0002t0006g0147 others(7): Show a0001c0002t0005g0029 a0001c0002t0006g0141 a0001c0002t0006g0147 a0001c0002t0006g0162 a0001c0002t0006g0164 a0001c0002t0006g0168 a0001c0004t0003g0284 a0001c0004t0013g0274 a0001c0004t0013g0276 a0001c0004t0013g0279	10	308	0.0325	320	c.234 others(339): Show c.2340+7097_2340+7098insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTAGGTATTTTA	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
DYNC2I1_chr7_158851558_158951189	158928271	T T	TGATCTCA others(313): Show TGATCTCAACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGT GTAGCTGGGACTACAGGCGTGCGCCACCATGCCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03688.hp2 NA18955.hp1 others(3): Show HG00544.hp1 HG03688.hp2 NA18955.hp1 NA18989.hp1 NA18999.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0003 a0001c0021t0003 a0001c0001t0003 a0001c0021t0003	a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0208 others(3): Show a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0003g0218 a0001c0021t0003g0216	6	274	0.0219	320	c.248 others(339): Show c.2485+1243_2485+1244insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTC GACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGTGTAGCTGGGACTACAGGCGTGCGCCACCATGCCCGGCTAATT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGATCTCAACTTCTTT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EAF2_chr3_121830209_121891526	121849957	A A	AACCTTTT others(313): Show AACCTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02280.hp1 others(9): Show HG01884.hp2 HG02145.hp1 HG02280.hp1 HG02717.hp2 HG02738.hp2 HG03516.hp1 HG03579.hp2 HG04184.hp2 NA18998.hp1 NA19066.hp1 NA19083.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0046 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0066	12	318	0.0377	320	c.202 others(337): Show c.202-4715_202-4714insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGACCTTTTTTTCTTTT	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EED_chr11_86239753_86283810	86259223	T T	TAAAAATC others(313): Show TAAAAATCAGAAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp1 HG01175.hp1 others(11): Show HG01069.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01361.hp2 HG02148.hp2 HG02486.hp1 HG03453.hp2 HG04199.hp2 NA18949.hp1 NA18972.hp1 NA18997.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0209 others(10): Show a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0288	14	392	0.0357	320	c.634 others(337): Show c.634+1643_634+1644insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTTTG	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(313): Show TAATGTAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACT GCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGTGCCCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00609.hp1 others(42): Show HG00099.hp2 HG00438.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01943.hp1 HG01981.hp2 HG02135.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG04184.hp2 NA18942.hp2 NA18946.hp1 NA18951.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18970.hp1 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19003.hp1 NA19006.hp1 NA19009.hp1 NA19012.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19074.hp1 NA19079.hp1 NA19085.hp1 NA20300.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0001t0063 a0001c0004t0006 a0001c0006t0002 a0001c0006t0007 a0004c0007t0003	a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0115 others(42): Show a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0263 a0001c0001t0002g0302 a0001c0001t0002g0309 a0001c0001t0003g0068 a0001c0001t0003g0085 a0001c0001t0003g0091 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0157 a0001c0001t0003g0228 a0001c0001t0003g0280 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0299 a0001c0001t0003g0319 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0006g0336 a0001c0001t0013g0218 a0001c0001t0013g0222 a0001c0001t0013g0241 a0001c0001t0048g0063 a0001c0001t0052g0261 a0001c0001t0053g0282 a0001c0001t0063g0253 a0001c0004t0006g0107 a0001c0004t0006g0121 a0001c0004t0006g0317 a0001c0006t0002g0332 a0001c0006t0007g0046 a0004c0007t0003g0164 a0004c0007t0003g0168 a0004c0007t0003g0169	45	346	0.1301	320	c.879 others(339): Show c.879-26428_879-26427insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTC GGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGTGCCCGGCAATGTAGTGGTTCTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(313): Show GTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0072 a0001c0005t0001g0072	1	170	0.0059	320	c.86- others(333): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK4_chr15_39929115_40040591	40024228	T T	TAAGAGAT others(313): Show TAAGAGATGGGGGTCTCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02886.hp2 HG02258.hp1 HG02451.hp2 HG02886.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0010 a0003c0026 a0001c0005 a0003c0010 a0003c0026	a0001c0005t0001 a0003c0010t0001 a0003c0026t0001 a0001c0005t0001 a0003c0010t0001 a0003c0026t0001	a0001c0005t0001g0247 a0003c0010t0001g0047 a0003c0026t0001g0011 a0001c0005t0001g0247 a0003c0010t0001g0047 a0003c0026t0001g0011	3	368	0.0082	320	c.438 others(339): Show c.4389+1639_4389+1640insGGCCGGGCGTGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGATGGGGGTCTC	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	32/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF3B_chr7_2349827_2385745	2377490	G G	GCTCCTGG others(313): Show GCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGG GATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCTCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	384	0.0026	320	c.215 others(337): Show c.2154+433_2154+434insCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377573	C C	CTGTGAAT others(313): Show CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTCTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	384	0.0026	320	c.215 others(337): Show c.2154+542_2154+543insGCTCCTGGGATGCTGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCC GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC GCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAG GAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377629	T T	TCCGTGTT others(313): Show TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	384	0.0026	320	c.215 others(337): Show c.2154+583_2154+584insTGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377693	G G	GCCGTGTT others(313): Show GCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTG AGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	384	0.0026	320	c.215 others(337): Show c.2154+619_2154+620insCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377693	G G	GCCGTGTT others(313): Show GCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTG AGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	384	0.0026	320	c.215 others(337): Show c.2154+619_2154+620insCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377749	C C	CCTGGGAT others(313): Show CCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGATGCCGTGTTGTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAT GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCCGTGTTGTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0020 a0004c0006t0001g0020	1	384	0.0026	320	c.215 others(337): Show c.2154+683_2154+684insCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCCGTGTTGTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCCGTGTTGTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4G3_chr1_20801479_21181897	21166095	T T	TGACTATA others(313): Show TGACTATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp1 NA18979.hp1 HG00408.hp2 HG02015.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0230 a0001c0001t0004g0219 a0001c0001t0004g0231 a0001c0001t0001g0230 a0001c0001t0004g0219 a0001c0001t0004g0231	3	312	0.0096	320	c.-27 others(341): Show c.-272+10079_-272+10080insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATAGTC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
ELMOD3_chr2_85349769_85396748	85362448	T T	TAAGATAA others(313): Show TAAGATAATTGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18953.hp1 NA19012.hp1 others(1): Show HG02602.hp2 NA18953.hp1 NA19012.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 others(1): Show a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0333	4	386	0.0104	320	c.129 others(335): Show c.129+201_129+202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAATTGCCA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELOVL4_chr6_79909814_79952553	79919194	G G	GCTATGTC others(313): Show GCTATGTCTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0108 a0002c0002t0002g0108	1	354	0.0028	320	c.669 others(335): Show c.669+225_669+226insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTAGACATAG	ELOVL4	ENSG00000118402.6	transcript	ENST00000369816.5	protein_coding	5/5			chr6	TogoVar
ENTREP2_chr15_29115252_29575979	29528701	C C	CTCCACCA others(313): Show CTCCACCATGAAATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02965.hp2 others(1): Show HG01109.hp1 HG02451.hp1 HG02965.hp2 HG03098.hp1	a0002 a0008 a0002 a0008	a0002c0004 a0002c0012 a0008c0025 a0002c0004 a0002c0012 a0008c0025	a0002c0004t0003 a0002c0012t0009 a0008c0025t0002 a0002c0004t0003 a0002c0012t0009 a0008c0025t0002	a0002c0004t0003g0101 a0002c0012t0009g0091 a0002c0012t0009g0092 others(1): Show a0002c0004t0003g0101 a0002c0012t0009g0091 a0002c0012t0009g0092 a0008c0025t0002g0090	4	125	0.0320	320	c.219 others(339): Show c.219+41803_219+41804insTGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCATGGTGGA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(313): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAC CCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	428	0.0023	320	c.83+ others(333): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC AGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPB41L2_chr6_130834347_131068245	130952343	T T	TAAAATGT others(313): Show TAAAATGTTCACTAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCTGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	356	0.0028	320	c.705 others(337): Show c.705+2761_705+2762insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCAGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTTTAGTGAACATTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPHA3_chr3_89102621_89487134	89257673	T T	TAAAAATA others(313): Show TAAAAATAACAACTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp1 NA19030.hp1 HG01106.hp1 HG01175.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0005 a0001c0001t0001 a0002c0005t0005	a0001c0001t0001g0087 a0002c0005t0005g0083 a0002c0005t0005g0138 a0001c0001t0001g0087 a0002c0005t0005g0083 a0002c0005t0005g0138	3	200	0.0150	320	c.814 others(339): Show c.814+47169_814+47170insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATAACAACTGGA	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	96877643	T T	TAAATGTT others(313): Show TAAATGTTTTATTTTATTTTATTTTATTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01934.hp2 HG01978.hp2 others(8): Show HG01192.hp1 HG01934.hp2 HG01978.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02965.hp1 HG03486.hp1 NA19004.hp2 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 others(6): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0013 a0001c0003t0016 a0001c0003t0027 a0001c0004t0003	a0001c0001t0003g0040 a0001c0003t0002g0036 a0001c0003t0003g0039 others(8): Show a0001c0001t0003g0040 a0001c0003t0002g0036 a0001c0003t0003g0039 a0001c0003t0004g0004 a0001c0003t0011g0002 a0001c0003t0013g0001 a0001c0003t0016g0041 a0001c0003t0027g0003 a0001c0004t0003g0035 a0001c0004t0003g0037 a0001c0004t0003g0038	11	82	0.1342	320	c.450 others(339): Show c.450+10761_450+10762insTTATTTTATTTTATTTTATTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAATGTT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERAP1_chr5_96769484_96812945	96805012	T T	TAAGTTTT others(313): Show TAAGTTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02129.hp2 HG02135.hp2 others(8): Show HG00597.hp2 HG02129.hp2 HG02135.hp2 NA18953.hp1 NA18953.hp2 NA18967.hp2 NA18975.hp1 NA18993.hp1 NA19000.hp1 NA19006.hp2 NA19060.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0055 a0004c0004t0001g0210 a0004c0004t0001g0272 others(8): Show a0004c0004t0001g0055 a0004c0004t0001g0210 a0004c0004t0001g0272 a0004c0004t0001g0273 a0004c0004t0001g0274 a0004c0004t0001g0275 a0004c0004t0001g0285 a0004c0004t0001g0286 a0004c0004t0001g0287 a0004c0004t0001g0288 a0004c0004t0001g0299	11	416	0.0264	320	c.-17 others(337): Show c.-17-1070_-17-1069insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCACAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAAAACTT	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	1/18			chr5	TogoVar
ERICH1_chr8_659200_736224	659455	T T	TGCACTGA others(313): Show TGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCA CTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGA CCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGAGCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTG GGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGA GGGGGTGACCATCGAGATCTCCAGGGTGCACTGACCATCCTGGGGAGGGG GTGACCATCGAGATCTCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	378	0.0027	320	c.51 others(331): Show c.5147_*5148insCCTGGAGATCTCGATGGTCACCCCCTCCCCAGGA TGGTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGT CAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGT GCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCAC CCTGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCG GAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACCCTGGAGA TCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4744		chr8	TogoVar
EVC_chr4_5706201_5819305	5706437	G G	GATACATA others(313): Show GATACATAGATACATACATAGATAGATACATACATACATACATACATACA TACATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATA CATACATACATACATACATAGATAGATAGATAGATAGATACATAGATAGA TACATAGATAGATAGATACATAGATACATACATAGATAGATAGATAGATA CATAGATAGATACATAGATACATAGATAGATAGATAGATACATAGATAGA TAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATAGATA GATACATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0008 a0005c0024t0008	a0005c0024t0008g0214 a0005c0024t0008g0214	1	369	0.0027	320	c.-49 others(331): Show c.-4944_-4943insATACATAGATACATACATAGATAGATACATACAT ACATACATACATACATACATAGATACATAGATAGATACATAGATAGATAC ATAGATAGATAGATACATACATACATACATACATAGATAGATAGATAGAT AGATACATAGATAGATACATAGATAGATAGATACATAGATACATACATAG ATAGATAGATAGATACATAGATAGATACATAGATACATAGATAGATAGAT AGATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAC ATAGATAGATAGATAGATACATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4763		chr4	TogoVar
EXD3_chr9_137301896_137428162	137329197	G G	GTCACACG others(313): Show GTCACACGGGACTACACGGGGTCACACGGGACTACACGGGGCTACACGGG ACTACACGGGGCTACACGGGACTACACAGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGGCTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGAGTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGG GCTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGG ACTACACGGGGTGACACGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 NA19066.hp1 HG02965.hp1 HG03041.hp2 NA19066.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0004 a0002c0002 a0003c0003 a0006c0004	a0002c0002t0001 a0003c0003t0001 a0006c0004t0001 a0002c0002t0001 a0003c0003t0001 a0006c0004t0001	a0002c0002t0001g0048 a0003c0003t0001g0041 a0006c0004t0001g0027 a0002c0002t0001g0048 a0003c0003t0001g0041 a0006c0004t0001g0027	3	82	0.0366	320	c.199 others(339): Show c.1999-5055_1999-5054insTCCCGTGTCACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTACTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329289	G G	GCTACACG others(313): Show GCTACACGGGACTACACGGGGTCACACGGGACTACACGGGGTCACACGGG ACTACACGGGGCTACACGGGACTACACGGGGCTACACGGGACTACACAGG GTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGAGTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGG GCTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGG ACTACACGGGGTGACACGGGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	82	0.0122	320	c.199 others(339): Show c.1999-5147_1999-5146insTCCCGTGTCACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTACTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGT GTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC4_chr7_133248078_134070761	133408211	T T	TTGGTGGT others(313): Show TTGGTGGTGATGATGGGTGGGGAGGGAATGATGTTGGTGGGGTGGGACTG GTGATCGTGGGGGTCATGGTAGGGTGGTAGTGATGATGGAGGTATTGGTG GGGATGATAGAGCTGGGGATGGGGTGGTGATGGTGGGGTGGATTGGTGAT GGTGGAGGTGATGGTGGTGATGATGGGTGGGGAGGGAATGATGTTGGTGG GGTGGGACTGGTGATCGTGGGGGTCATGGTAGGGTGGTAGTGATGATGGA GGTATTGGTGGGGATGATAGAGCTGGGGATGGGGTGGTGATGGTGGGGTG GATTGGTGATGGTGGAGGTGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0081 a0001c0007t0008g0081	1	102	0.0098	320	c.118 others(341): Show c.1182+33384_1182+33385insGTGGGGAGGGAATGATGTTGGTGG GGTGGGACTGGTGATCGTGGGGGTCATGGTAGGGTGGTAGTGATGATGGA GGTATTGGTGGGGATGATAGAGCTGGGGATGGGGTGGTGATGGTGGGGTG GATTGGTGATGGTGGAGGTGATGGTGGTGATGATGGGTGGGGAGGGAATG ATGTTGGTGGGGTGGGACTGGTGATCGTGGGGGTCATGGTAGGGTGGTAG TGATGATGGAGGTATTGGTGGGGATGATAGAGCTGGGGATGGGGTGGTGA TGGTGGGGTGGATTGGTGATGGTGGAGGTGATGGTGGTGATGATGG	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM110B_chr8_57989523_58153784	58133132	T T	TGATCAGA others(313): Show TGATCAGATTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0176 a0001c0001t0024g0176	1	300	0.0033	320	c.-32 others(341): Show c.-324-12760_-324-12759insTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCGATCAGATTACTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM219B_chr15_74894992_74911851	74910712	T T	TAAAAGGG others(313): Show TAAAAGGGATGGAGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAA AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCATGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	432	0.0023	320	c.-39 others(331): Show c.-3913_-3912insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCATGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTTTTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCCTCCATCCCTTTT	FAM219B	ENSG00000178761.15	transcript	ENST00000357635.10	protein_coding		3862		chr15	TogoVar
FARS2_chr6_5256513_5776583	5386364	G G	GCTATGTA others(313): Show GCTATGTAACTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACCGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02615.hp1 HG03041.hp1 others(1): Show HG01081.hp1 HG02615.hp1 HG03041.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0127 others(1): Show a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0127 a0001c0001t0002g0131	4	170	0.0235	320	c.612 others(339): Show c.612+17195_612+17196insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACCGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATGTAACTTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARSB_chr2_222561899_222661092	222589528	T T	TAAAGAGC others(313): Show TAAAGAGCTTCTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02451.hp1 others(6): Show HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02630.hp1 HG02922.hp1 HG02970.hp2 HG03579.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0009 a0002c0002t0006 a0002c0002t0009	a0002c0002t0006g0170 a0002c0002t0006g0173 a0002c0002t0006g0174 others(5): Show a0002c0002t0006g0170 a0002c0002t0006g0173 a0002c0002t0006g0174 a0002c0002t0006g0179 a0002c0002t0009g0011 a0002c0002t0009g0171 a0002c0002t0009g0176 a0002c0002t0009g0178	9	344	0.0262	320	c.161 others(341): Show c.1618+10399_1618+10400insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGAAGCTCTTT	FARSB	ENSG00000116120.11	transcript	ENST00000281828.8	protein_coding	16/16			chr2	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(313): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAATAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01261.hp1 HG00639.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0091 a0002c0002t0008g0100 a0002c0002t0008g0091 a0002c0002t0008g0100	2	334	0.0060	320	c.-10 others(339): Show c.-10-21228_-10-21227insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAATAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(313): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTATCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	334	0.0030	320	c.-10 others(339): Show c.-10-21228_-10-21227insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTATCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(313): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG01081.hp1 others(59): Show HG00323.hp2 HG00438.hp2 HG01081.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG02040.hp2 HG02129.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03209.hp1 HG03540.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18943.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0004 a0002c0002t0002 a0002c0002t0009 others(3): Show a0001c0001t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0003c0003t0002 a0003c0003t0013	a0001c0001t0004g0060 a0002c0002t0002g0003 a0002c0002t0002g0004 others(59): Show a0001c0001t0004g0060 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0039 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0085 a0002c0002t0002g0096 a0002c0002t0002g0107 a0002c0002t0002g0122 a0002c0002t0009g0119 a0002c0002t0009g0120 a0002c0002t0009g0121 a0002c0002t0010g0047 a0003c0003t0002g0029 a0003c0003t0002g0038 a0003c0003t0002g0040 a0003c0003t0002g0051 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0108 a0003c0003t0013g0195	62	334	0.1856	320	c.-10 others(339): Show c.-10-21228_-10-21227insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(313): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0055 a0003c0003t0002g0055	1	334	0.0030	320	c.-10 others(339): Show c.-10-21228_-10-21227insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(313): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02080.hp1 NA18942.hp1 others(8): Show HG00609.hp2 HG02080.hp1 NA18942.hp1 NA18948.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18969.hp1 NA18986.hp1 NA18990.hp2 NA18994.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0056 others(8): Show a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0102 a0003c0003t0002g0103 a0003c0003t0002g0104 a0003c0003t0002g0105 a0003c0003t0002g0109	11	334	0.0329	320	c.-10 others(339): Show c.-10-21228_-10-21227insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FGD2_chr6_37000655_37034069	37000764	C C	CATAACTC others(313): Show CATAACTCCCTTGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG02015.hp1 HG02040.hp1 others(7): Show HG01943.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02615.hp2 HG02698.hp1 HG02965.hp2 HG02970.hp2 NA18942.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0013	a0001c0001 a0001c0012 a0002c0004 others(4): Show a0001c0001 a0001c0012 a0002c0004 a0002c0008 a0003c0011 a0009c0021 a0013c0025	a0001c0001t0001 a0001c0012t0020 a0002c0004t0001 others(6): Show a0001c0001t0001 a0001c0012t0020 a0002c0004t0001 a0002c0004t0005 a0002c0004t0015 a0002c0008t0004 a0003c0011t0005 a0009c0021t0002 a0013c0025t0001	a0001c0001t0001g0029 a0001c0001t0001g0278 a0001c0012t0020g0012 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0278 a0001c0012t0020g0012 a0002c0004t0001g0265 a0002c0004t0005g0129 a0002c0004t0015g0157 a0002c0008t0004g0175 a0003c0011t0005g0266 a0009c0021t0002g0166 a0013c0025t0001g0060	10	430	0.0233	320	c.-50 others(331): Show c.-5054_-5053insATAACTCCCTTGTAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	FGD2	ENSG00000146192.15	transcript	ENST00000274963.13	protein_coding		4890		chr6	TogoVar
FGF12_chr3_192134390_192732541	192658728	T T	TAAGATTT others(313): Show TAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TTTCACTCTGTCGCCCAGGCTGGAGCGCAGTGACGCGATCTCGACTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0072 a0001c0001t0026g0072	1	90	0.0111	320	c.13+ others(337): Show c.13+68452_13+68453insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGT CGAGATCGCGTCACTGCGCTCCAGCCTGGGCGACAGAGTGAAACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCTT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGF12_chr3_192134390_192732541	192691815	T T	TAAAAAAC others(313): Show TAAAAAACGAAAGTGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18971.hp1 HG02132.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0049 a0001c0001t0011g0048 a0001c0001t0006g0049 a0001c0001t0011g0048	2	90	0.0222	320	c.13+ others(337): Show c.13+35365_13+35366insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTCCACTTTCGTTTTTT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGGY_chr1_59292094_59767730	59682304	T T	TAAAAACT others(313): Show TAAAAACTAGTATCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGG TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	166	0.0060	320	c.151 others(339): Show c.1512+8186_1512+8187insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTAGTATCAG	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(313): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	370	0.0027	320	c.189 others(339): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar

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