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
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(312): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	320	0.0031	319	c.546 others(336): Show c.546+3884_546+3885insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DAAM1_chr14_59183667_59376403	59243307	A A	AAGAACTT others(312): Show AAGAACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp2 NA19064.hp1 NA19011.hp1 NA19011.hp2 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0009 a0001c0002 a0001c0003 a0003c0009	a0001c0002t0062 a0001c0003t0009 a0003c0009t0061 a0001c0002t0062 a0001c0003t0009 a0003c0009t0061	a0001c0002t0062g0153 a0001c0003t0009g0092 a0003c0009t0061g0199 a0001c0002t0062g0153 a0001c0003t0009g0092 a0003c0009t0061g0199	3	298	0.0101	319	c.-37 others(338): Show c.-37-20122_-37-20121insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACTTTCTTT	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(312): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18990.hp1 NA19067.hp1 others(2): Show NA18948.hp1 NA18990.hp1 NA19067.hp1 NA19075.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0044 a0001c0003t0003g0320 a0001c0003t0004g0310 others(1): Show a0001c0003t0003g0044 a0001c0003t0003g0320 a0001c0003t0004g0310 a0001c0003t0004g0313	5	416	0.0120	319	c.500 others(336): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DCC_chr18_52335197_53540899	52925884	T T	TAAAGAGA others(312): Show TAAAGAGATTTAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01993.hp1 HG02080.hp2 others(6): Show HG00738.hp2 HG01993.hp1 HG02080.hp2 HG02602.hp1 HG02622.hp2 HG03130.hp2 HG03209.hp2 HG03669.hp1 NA20129.hp2	a0002 a0006 a0002 a0006	a0002c0001 a0002c0004 a0006c0019 a0002c0001 a0002c0004 a0006c0019	a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 others(6): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0006 a0002c0004t0003 a0002c0004t0013 a0002c0004t0014 a0002c0004t0017 a0006c0019t0005	a0002c0001t0001g0067 a0002c0001t0002g0017 a0002c0001t0005g0088 others(6): Show a0002c0001t0001g0067 a0002c0001t0002g0017 a0002c0001t0005g0088 a0002c0001t0006g0010 a0002c0004t0003g0023 a0002c0004t0013g0042 a0002c0004t0014g0043 a0002c0004t0017g0062 a0006c0019t0005g0014	9	114	0.0790	319	c.985 others(334): Show c.985+517_985+518insGAGATTTAAGGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24188358	T T	TAAAAGTT others(312): Show TAAAAGTTACCAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA20905.hp1 HG02735.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0023 a0002c0002t0015 a0002c0002t0023	a0002c0002t0015g0106 a0002c0002t0023g0184 a0002c0002t0015g0106 a0002c0002t0023g0184	2	216	0.0093	319	c.102 others(338): Show c.1024-9727_1024-9726insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAATTGGTAACTTTT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	8/9			chr6	TogoVar
DDR2_chr1_162627464_162792405	162791518	G G	GCATTTGG others(312): Show GCATTTGGCATTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCG TGAGCCACCGCGCCCGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00741.hp1 others(24): Show HG00423.hp1 HG00609.hp1 HG00741.hp1 HG00741.hp2 HG01123.hp1 HG01361.hp2 HG01943.hp2 HG02071.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG03579.hp2 HG04184.hp1 HG04228.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18967.hp1 NA18985.hp1 NA19009.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0017 a0001c0002t0025 others(3): Show a0001c0002t0001 a0001c0002t0017 a0001c0002t0025 a0001c0002t0034 a0001c0002t0035 a0001c0006t0018	a0001c0002t0001g0016 a0001c0002t0001g0055 a0001c0002t0001g0182 others(24): Show a0001c0002t0001g0016 a0001c0002t0001g0055 a0001c0002t0001g0182 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0239 a0001c0002t0001g0249 a0001c0002t0001g0253 a0001c0002t0001g0257 a0001c0002t0001g0273 a0001c0002t0001g0276 a0001c0002t0001g0279 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0289 a0001c0002t0017g0064 a0001c0002t0025g0150 a0001c0002t0034g0219 a0001c0002t0035g0062 a0001c0006t0018g0201	27	302	0.0894	319	c.11 others(332): Show c.11272_*11273insCATTTGGCATTTTTTTTTTTTTTTTTTTTTTT TTTGGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCGGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding		4114		chr1	TogoVar
DDX51_chr12_132131594_132149319	132135476	A A	ACGGTGCC others(312): Show ACGGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTA CCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCG AGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTG CCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	319	c.37 others(330): Show c.3795_*3796insGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCG TGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGG AGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGCGGG CACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGCACAC TCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGG TAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGTAGCGGGCACCGTG GGCACACTCGGGGAGGTGGGAGGTAGCGGGCACCG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1117		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136212	C C	CACGGTGC others(312): Show CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	334	0.0030	319	c.30 others(330): Show c.3059_*3060insTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACC GGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGG AGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCG GGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGCAC ACTCGGGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGGA GGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGT GGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		381		chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(312): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	367	0.0027	319	c.-42 others(330): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGGTGAGGGAG TCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DENND2A_chr7_140513420_140645813	140637146	G G	GGCCAATT others(312): Show GGCCAATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02738.hp1 HG01243.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0002 a0001c0003t0002 a0002c0002t0002	a0001c0003t0002g0220 a0002c0002t0002g0064 a0001c0003t0002g0220 a0002c0002t0002g0064	2	254	0.0079	319	c.-24 others(338): Show c.-248+3357_-248+3358insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAATTGGC	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	1/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140637151	A A	ATTTCTTT others(312): Show ATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGCCAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02293.hp2 HG01978.hp1 HG02293.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0003 a0001c0003t0001 a0001c0007t0003	a0001c0003t0001g0204 a0001c0007t0003g0203 a0001c0003t0001g0204 a0001c0007t0003g0203	2	254	0.0079	319	c.-24 others(338): Show c.-248+3352_-248+3353insCTGGCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	1/19			chr7	TogoVar
DENND3_chr8_141123589_141200804	141181769	T T	TTGTGTAT others(312): Show TTGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0015 a0002c0022t0015	a0002c0022t0015g0204 a0002c0022t0015g0204	1	390	0.0026	319	c.294 others(336): Show c.2944+927_2944+928insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGTATTTTTT	DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEUP1_chr11_93325742_93443470	93338269	T T	TAAGAAGT others(312): Show TAAGAAGTTGGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	368	0.0027	319	c.29+ others(334): Show c.29+5995_29+5996insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAGAAGTTGGTCCT	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DIDO1_chr20_62872743_62931505	62875254	C C	CCACCCCC others(312): Show CCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGC ACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACA CCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCACCCCCACCCCCA CCCCCACCCCCACCCCCACCCGCACCCTCACCCCCACCCCCACCCTCACC CCCACCCCCACCCGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0225 a0003c0003t0001g0225	1	320	0.0031	319	c.39 others(330): Show c.3978_*3979insCGGGTGCGGGTGGGGGTGGGGGTGAGGGTGGGGG TGGGGGTGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG GGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGTGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGGTGCGGGTGGGGGTGGGGGT GGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2488		chr20	TogoVar
DIP2C_chr10_269201_694668	478138	A A	AGAAGGGA others(312): Show AGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAG GGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGG GGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGA GGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGA AGGGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGG GAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGG GAGGGGAGAAGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	88	0.0114	319	c.158 others(336): Show c.158-5590_158-5589insCCCTCCCTTCTTCTCCCCTCCCCTCCCC TCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCC TCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCTCTCCCCT CCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCTT CTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCT CCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGGA others(312): Show GGAGGGGAGAAGAAGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGG GAGGGGAGAAGGAAGGGGAGGGGAGGGGAGGGGAGGGAAGAAGAAGGGAG GGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGGGAGAAGAAGGG AAGGAAGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGAGAGGAAGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGG CGGGGCGGAGAGGGGCGGGGCGGGGCGGGGCGGGGCAGGGAGGGGAGGGG CGAAGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	88	0.0114	319	c.158 others(336): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCTTCGCCCCTCCC CTCCCTGCCCCGCCCCGCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTC CTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCTCTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCTTCCTTCCCTTCTT CTCCCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTC TTCTTCCCTCCCCTCCCCTCCCCTCCCCTTCCTTCTCCCCTCCCCTCCCC TCCCTTCTTCTCCCCTCCCCTCCCCTCCTTCTTCTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608554	C C	CCCCACAC others(312): Show CCCCACACACACCCCCCCCCACACACACACACACACCCCCCCCCACACAC ACACACACACCCCCCCCCACACACACACACACCCCCCCCCACACACACAC ACACCCCCCCCCACACACACACCCCCCCCCACACACACACCCCCCCCACA CACACACACACCCCCCCCCACACACACACACCCCCCCCCACACACACACC CCCCCCACACACACACCCCCCCCCCCACACACACACCCCCCCCCCACACA CATCCCCCCCCACACACACACACATCCCCCCCCACACACACACACATCCC CCCCCCACACACACACACAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	88	0.0114	319	c.85+ others(336): Show c.85+80939_85+80940insATGTGTGTGTGTGTGGGGGGGGGATGTG TGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGGG GGGGGGGTGTGTGTGTGGGGGGGGGGGTGTGTGTGTGGGGGGGGTGTGTG TGTGGGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGGGGG GGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGT GTGGGGGGGGGTGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGTGG GGGGGGGTGTGTGTGTGTGTGTGGGGGGGGGTGTGTGTGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLC1_chr8_13078361_13519851	13099051	A A	ACCATTTT others(312): Show ACCATTTTCACCATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0019 a0009c0018t0019	a0009c0018t0019g0001 a0009c0018t0019g0001	1	212	0.0047	319	c.299 others(336): Show c.2990+295_2990+296insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAATGGTGAAAATGG	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	9/17			chr8	TogoVar
DLG2_chr11_83450173_85632344	85494662	C C	CAAAGATT others(312): Show CAAAGATTAATGAATCTAGCCGGGCGCGGTGGCTCACACCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAA TAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG GTCCCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18522.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0009 a0001c0001t0002 a0001c0002t0009	a0001c0001t0002g0001 a0001c0002t0009g0002 a0001c0001t0002g0001 a0001c0002t0009g0002	2	14	0.1429	319	c.40+ others(338): Show c.40+103994_40+103995insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGGGACCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTATTTTTT GTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACCGCGCCCGGCTAGATTCATTAATCTTT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	3/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	977716	A A	ATGTGGTG others(312): Show ATGTGGTGAGGGGTGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTTT GGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTC TTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTCTG GTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTCGGTT CTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGG GTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGC TCGGTTCTGGTCTTTGGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	319	c.73+ others(336): Show c.73+69755_73+69756insTGAGGGGTGTCGGGGATGCAGTGAGGTG CTGCGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAG GTGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGT GAGGGGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGC AGTGAGGGGCTCGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGA TGCAGTGAGGGGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGG GGATGCAGTGAGGGGCTCGGTTCTGGTCTTTGGTGTTGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1417628	C C	CCTCCAGG others(312): Show CCTCCAGGGGGGCACAGGGGGCCACACTCCTGCCTCGGTGAGGCTCCAGG GGGGCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGG CACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACG GGGGGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGG GCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACAGGGGGCCC CACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCACAC TCCTGCCTCACTCAGCGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	319	c.107 others(338): Show c.107-83724_107-83723insAGGGGGCCACACTCCTGCCTCGGTGA GGCTCCAGGGGGGCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCT CCAGGGGGGCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAG GGGGGCACGGGGGGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGG GCACGGGGGGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCAC AGGGGGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGG AGGCCACACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	31452231	T T	TAAAAAAA others(312): Show TAAAAAAATAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0027 a0027	a0027c0058 a0027c0058	a0027c0058t0019 a0027c0058t0019	a0027c0058t0019g0116 a0027c0058t0019g0116	1	126	0.0079	319	c.893 others(338): Show c.8938-7605_8938-7604insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTATTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31982955	T T	TTCAGAGC others(312): Show TTCAGAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTAACTAC AAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAACCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCATCACACCCAGCACATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCACCTGGCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01256.hp1 HG03654.hp1 others(7): Show HG01167.hp1 HG01256.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 NA18960.hp1 NA18988.hp1 NA18989.hp1 NA19060.hp1 NA19066.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0014	a0001c0001 a0001c0002 a0001c0054 others(6): Show a0001c0001 a0001c0002 a0001c0054 a0002c0005 a0003c0003 a0004c0011 a0007c0018 a0007c0019 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0013 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0013 a0001c0054t0001 a0002c0005t0001 a0003c0003t0002 a0004c0011t0002 a0007c0018t0001 a0007c0019t0001 a0014c0017t0001	a0001c0001t0001g0037 a0001c0001t0002g0032 a0001c0002t0013g0097 others(7): Show a0001c0001t0001g0037 a0001c0001t0002g0032 a0001c0002t0013g0097 a0001c0054t0001g0100 a0002c0005t0001g0040 a0003c0003t0002g0043 a0004c0011t0002g0035 a0007c0018t0001g0099 a0007c0019t0001g0061 a0014c0017t0001g0107	10	126	0.0794	319	c.643 others(340): Show c.6439-14442_6439-14441insGGCCAGGTGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATGTGCTGGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGTAG TTAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTCTGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DNAH10_chr12_123757301_123940714	123872645	T T	TAAAAAAA others(312): Show TAAAAAAAATACCCTACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG02896.hp2 others(4): Show HG02280.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03471.hp2	a0007 a0009 a0007 a0009	a0007c0010 a0007c0097 a0009c0012 a0007c0010 a0007c0097 a0009c0012	a0007c0010t0001 a0007c0097t0001 a0009c0012t0002 a0007c0010t0001 a0007c0097t0001 a0009c0012t0002	a0007c0010t0001g0125 a0007c0010t0001g0127 a0007c0010t0001g0128 others(4): Show a0007c0010t0001g0125 a0007c0010t0001g0127 a0007c0010t0001g0128 a0007c0097t0001g0126 a0009c0012t0002g0029 a0009c0012t0002g0030 a0009c0012t0002g0031	7	170	0.0412	319	c.778 others(336): Show c.7786-906_7786-905insATACCCTACAGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	45/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21584948	T T	TAAAAAAA others(312): Show TAAAAAAAATGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03540.hp1 NA21309.hp1 HG02559.hp2 HG03540.hp1 NA21309.hp1	a0031 a0080 a0103 a0031 a0080 a0103	a0031c0218 a0080c0164 a0103c0166 a0031c0218 a0080c0164 a0103c0166	a0031c0218t0002 a0080c0164t0005 a0103c0166t0014 a0031c0218t0002 a0080c0164t0005 a0103c0166t0014	a0031c0218t0002g0130 a0080c0164t0005g0013 a0103c0166t0014g0006 a0031c0218t0002g0130 a0080c0164t0005g0013 a0103c0166t0014g0006	3	298	0.0101	319	c.171 others(338): Show c.1710+2940_1710+2941insTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCC GGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTAG	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	9/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC17_chr15_40760161_40812473	40808120	G G	GCAAAGCT others(312): Show GCAAAGCTACTCTTTAATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACT GCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGT GTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18998.hp1 NA21309.hp2 NA18973.hp2 NA18998.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0076 a0001c0001t0001g0117 a0001c0001t0001g0001 a0001c0001t0001g0076 a0001c0001t0001g0117	3	358	0.0084	319	c.-67 others(328): Show c.-675_-674insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCA GGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATTGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAATTAAAGAGTAGCTTTG	DNAJC17	ENSG00000104129.10	transcript	ENST00000220496.9	protein_coding		648		chr15	TogoVar
DPEP1_chr16_89608642_89643433	89635163	C C	CTCCTTTC others(312): Show CTCCTTTCCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	250	0.0040	319	c.105 others(334): Show c.105-745_105-744insTCCTTTCCCCTTCCTTCTCCTTTCCCCTCC TTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635196	T T	TCCTTTCC others(312): Show TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	250	0.0040	319	c.105 others(334): Show c.105-704_105-703insTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCCCCTTCCTTCCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH3_chr3_16252061_16269943	16267329	T T	TAAAAATA others(312): Show TAAAAATATAAATTAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	456	0.0022	319	c.-24 others(330): Show c.-2454_-2453insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCTTAATTTATATTTTT	DPH3	ENSG00000154813.10	transcript	ENST00000488423.2	protein_coding		2387		chr3	TogoVar
DPH6_chr15_35365880_35551165	35370304	T T	TAAAAGCA others(312): Show TAAAAGCATAATACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	228	0.0044	319	c.18 others(330): Show c.1845_*1846insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTAGTATTATGCTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding		575		chr15	TogoVar
DTHD1_chr4_36276616_36352511	36323570	T T	TGCTAGGT others(312): Show TGCTAGGTATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0285 a0001c0004t0003g0285	1	308	0.0033	319	c.234 others(338): Show c.2340+7097_2340+7098insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTAGGTATTTTA	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(312): Show TGATCTCAACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTG TAGCTGGGACTACAGGCGTGCGCCACCATGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG02056.hp2 others(11): Show HG00423.hp1 HG00597.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 NA18944.hp2 NA18954.hp2 NA18959.hp2 NA18965.hp1 NA18990.hp2 NA19004.hp1 NA19074.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0210 others(11): Show a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0236	14	274	0.0511	319	c.248 others(338): Show c.2485+1243_2485+1244insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCG ACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGTGTAGCTGGGACTACAGGCGTGCGCCACCATGCCCGGCTAATTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGATCTCAACTTCTTT	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(312): Show AACCTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01109.hp1 HG01256.hp1 others(20): Show HG00423.hp1 HG01109.hp1 HG01256.hp1 HG02258.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG03669.hp1 HG03704.hp2 NA18612.hp1 NA18971.hp1 NA18975.hp2 NA18984.hp2 NA18991.hp2 NA18992.hp2 NA19005.hp2 NA19056.hp1 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0003g0068	23	318	0.0723	319	c.202 others(336): Show c.202-4715_202-4714insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGACCTTTTTTTCTTTT	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(312): Show TAAAAATCAGAAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp1 others(52): Show HG00140.hp1 HG00323.hp1 HG00639.hp1 HG01070.hp2 HG01106.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02451.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03710.hp2 HG04228.hp1 NA18522.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp1 NA18993.hp2 NA18999.hp1 NA19064.hp2 NA19068.hp2 NA19072.hp2 NA19076.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0042 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0004g0231 a0001c0001t0005g0289	55	392	0.1403	319	c.634 others(336): Show c.634+1643_634+1644insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTTTG	EED	ENSG00000074266.23	transcript	ENST00000263360.11	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
EED_chr11_86239753_86283810	86259223	T T	TAAAAATC others(312): Show TAAAAATCAGAAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	392	0.0026	319	c.634 others(336): Show c.634+1643_634+1644insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTTTG	EED	ENSG00000074266.23	transcript	ENST00000263360.11	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124761401	T T	TAAAATGG others(312): Show TAAAATGGTATGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0158 a0001c0001t0006g0158	1	358	0.0028	319	c.875 others(334): Show c.875+898_876-898insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCCGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAACATACCATTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	6/6			chr10	TogoVar
EEPD1_chr7_36148254_36306538	36212542	T T	TAATGTAG others(312): Show TAATGTAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTG CAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGTGCCCGGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18989.hp2 HG01496.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0020 a0001c0001t0003 a0001c0006t0020	a0001c0001t0003g0181 a0001c0006t0020g0045 a0001c0001t0003g0181 a0001c0006t0020g0045	2	346	0.0058	319	c.879 others(338): Show c.879-26428_879-26427insTTTTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCG GCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGTGCCCGGCAATGTAGTGGTTCTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFNA5_chr5_107371894_107675937	107400303	G G	GTCAAATA others(312): Show GTCAAATATCAAATATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0105 a0001c0001t0083g0105	1	190	0.0053	319	c.419 others(338): Show c.419-12533_419-12532insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAATATTTGATATTTGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(312): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAG CTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGG GTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01516.hp1 HG01517.hp1 others(1): Show HG01123.hp2 HG01516.hp1 HG01517.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0155 a0001c0001t0001g0156	4	384	0.0104	319	c.215 others(336): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTG TTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGTGAG others(312): Show GGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAG CTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGG GTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	384	0.0026	319	c.215 others(336): Show c.2155-379_2155-378insTGAGCTCTTCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTG TTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4EBP1_chr8_38025534_38065365	38052417	T T	TGCCTGGT others(312): Show TGCCTGGTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	344	0.0029	319	c.146 others(336): Show c.146-4648_146-4647insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGCCTGGTTAATTTTTT	EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF4E_chr4_98874276_98934133	98897275	T T	TAAGAATG others(312): Show TAAGAATGCCTTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02145.hp2 HG02280.hp1 others(1): Show HG00735.hp1 HG02145.hp2 HG02280.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0198	4	300	0.0133	319	c.125 others(336): Show c.125+4600_125+4601insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCCAAAGGCATTCTT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	2/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	21166095	T T	TGACTATA others(312): Show TGACTATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG01358.hp2 others(5): Show HG00280.hp1 HG00423.hp1 HG01358.hp2 HG01928.hp1 HG02004.hp1 HG02027.hp1 HG03017.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0055 a0001c0001t0002g0063 others(5): Show a0001c0001t0002g0031 a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0085	8	312	0.0256	319	c.-27 others(340): Show c.-272+10079_-272+10080insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATAGTC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(312): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	428	0.0023	319	c.83+ others(332): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCA GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPB41L4A_chr5_112157619_112424277	112322978	T T	TAGAAGAC others(312): Show TAGAAGACAAGAAAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0140 a0001c0002t0003g0140	1	228	0.0044	319	c.100 others(338): Show c.100-15489_100-15488insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCACCTTTCTTGTCTTCT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109187443	T T	TGACTGTT others(312): Show TGACTGTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0227 a0001c0004t0033g0227	1	318	0.0031	319	c.230 others(338): Show c.2302-1839_2302-1838insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAACAGTC	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	22/25			chr9	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(312): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	312	0.0032	319	c.231 others(338): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGG	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(312): Show TAAAAATAACAACTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp1 HG03098.hp1 others(5): Show HG02559.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0002 a0002c0005t0005 a0002c0003t0002 a0002c0005t0005	a0002c0003t0002g0008 a0002c0005t0005g0081 a0002c0005t0005g0082 others(5): Show a0002c0003t0002g0008 a0002c0005t0005g0081 a0002c0005t0005g0082 a0002c0005t0005g0084 a0002c0005t0005g0085 a0002c0005t0005g0086 a0002c0005t0005g0090 a0002c0005t0005g0091	8	200	0.0400	319	c.814 others(338): Show c.814+47169_814+47170insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATAACAACTGGA	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERAP1_chr5_96769484_96812945	96805012	T T	TAAGTTTT others(312): Show TAAGTTTTTATTTCTTTTTTTTTTTTTCTTTTTTTTTGTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18948.hp1 NA18964.hp1 others(1): Show HG02148.hp2 NA18948.hp1 NA18964.hp1 NA19062.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0283 a0004c0004t0001g0297 a0004c0004t0001g0298 others(1): Show a0004c0004t0001g0283 a0004c0004t0001g0297 a0004c0004t0001g0298 a0004c0004t0001g0300	4	416	0.0096	319	c.-17 others(336): Show c.-17-1070_-17-1069insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCACAAAAAAAAAGAAAAAAAAAAAAAGAAATAAAAACTT	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	1/18			chr5	TogoVar
ERAP1_chr5_96769484_96812945	96805012	T T	TAAGTTTT others(312): Show TAAGTTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00558.hp1 others(24): Show HG00099.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG01346.hp1 HG01993.hp2 HG04184.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18999.hp1 NA19065.hp2 NA19076.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19091.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 others(1): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0004t0020	a0004c0004t0001g0017 a0004c0004t0001g0018 a0004c0004t0001g0037 others(17): Show a0004c0004t0001g0017 a0004c0004t0001g0018 a0004c0004t0001g0037 a0004c0004t0001g0038 a0004c0004t0001g0039 a0004c0004t0001g0276 a0004c0004t0001g0277 a0004c0004t0001g0278 a0004c0004t0001g0279 a0004c0004t0001g0280 a0004c0004t0001g0284 a0004c0004t0001g0290 a0004c0004t0001g0292 a0004c0004t0001g0294 a0004c0004t0001g0295 a0004c0004t0001g0296 a0004c0004t0001g0301 a0004c0004t0002g0293 a0004c0004t0005g0289 a0004c0004t0020g0291	27	416	0.0649	319	c.-17 others(336): Show c.-17-1070_-17-1069insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCACAAAAAAAAAAAAAAAAAAAAAAAGAAATAAAAACTT	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	1/18			chr5	TogoVar

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