Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
D2HGDH_chr2_241729630_241773811	241766717	G G	GGAGCCCC others(343): Show GGAGCCCCGGGCTGAGGGAGTAGGAAGAGTGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0318 a0003c0003t0010g0318	1	412	0.0024	350	c.130 others(367): Show c.1307-965_1307-964insTGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCC CGGGCTGAGGGAGTAGGAAGAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766767	G G	GGAGCCCC others(343): Show GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0071 a0004c0005t0005g0071	1	412	0.0024	350	c.130 others(367): Show c.1307-906_1307-905insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766817	G G	GGAGCCCC others(343): Show GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0365 a0003c0003t0005g0365	1	412	0.0024	350	c.130 others(367): Show c.1307-856_1307-855insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766905	G G	GTTGGGGA others(343): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0322 a0003c0003t0014g0322	1	412	0.0024	350	c.130 others(367): Show c.1307-760_1307-759insGGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DEFB123_chr20_31435632_31455257	31444314	T T	TTCGTTCT others(343): Show TTCGTTCTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	372	0.0027	350	c.58+ others(365): Show c.58+3576_58+3577insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCTCGTTCTTTATAATTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr20	TogoVar
DGKB_chr7_14140049_14907751	14460938	T T	TAAGAAAC others(343): Show TAAGAAACTCACCCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAAGCGGAGCTTGCAGTGAGCCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCA AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0019 a0001c0006t0019	a0001c0006t0019g0144 a0001c0006t0019g0144	1	148	0.0068	350	c.183 others(371): Show c.1835+17222_1835+17223insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGGCTCACTGCAAGCTCCGC TTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTGGGTGAGTTTCTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DIP2C_chr10_269201_694668	516743	G G	GGTGGGGG others(343): Show GGTGGGGGGGGACGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGAG GGGGGGACAGGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGG GGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGG GGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGG GTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGG GGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGAC ACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGACAGGGGGT A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0002 a0001c0022t0003g0002	1	88	0.0114	350	c.86- others(367): Show c.86-30214_86-30213insTACCCCCTGTCCCCCCCACCCTACCCCG TGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCC CCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTCCCCCCTCCCA CCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACCCTAC CCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTC CCCCCTCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCT CCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCC ACCCTACCCCGTCCCCCCCCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1B_chr9_136707572_136729742	136720207	T T	TTCATTTT others(343): Show TTCATTTTCCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0201 a0002c0015t0001g0201	1	422	0.0024	350	c.199 others(367): Show c.199-1699_199-1698insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCTCATTTTCCTTTTCT	DIPK1B	ENSG00000165716.11	transcript	ENST00000371692.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DLGAP1_chr18_3491032_4460307	3566132	T T	TGATAATT others(343): Show TGATAATTAGTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	80	0.0125	350	c.205 others(369): Show c.2057+1357_2057+1358insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGGTCCCGCCACTGCACTCCTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAAAACACTAATTATC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1317645	C C	CGGCAGCT others(343): Show CGGCAGCTTTTAAAAATAGAGCGTGTGCGAGTGCAGCGTCTCTCCAACAG TGGTCTACACTCGAGAAACTCAGCAGCGTTTAAAAATAGAGCCTGTACGA GTGCAGCGTCTCTCCAACAGTGGTCTACACTCGAGAAACTCGGCAGCTTT TAAAAATAGAGCGTGTGCAAGTACAGCGTCTCTCCAACAGTGGTCTACAC TCGAGAAACTCGGCAGCGTTTAAAAATAGAGTGTGTGCGAGTGCAGCGTC TCTCCAACAGTGGTCTACACTCGAGAAACTTGGCAGCGTTTAAAAATAGA GCCTGTGCGAGTGCAGCGTCTCTCCAACGGTGGTCTACACTCGAGAAACT T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	350	c.106 others(369): Show c.106+58768_106+58769insTTTTAAAAATAGAGCGTGTGCGAGTG CAGCGTCTCTCCAACAGTGGTCTACACTCGAGAAACTCAGCAGCGTTTAA AAATAGAGCCTGTACGAGTGCAGCGTCTCTCCAACAGTGGTCTACACTCG AGAAACTCGGCAGCTTTTAAAAATAGAGCGTGTGCAAGTACAGCGTCTCT CCAACAGTGGTCTACACTCGAGAAACTCGGCAGCGTTTAAAAATAGAGTG TGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCTACACTCGAGAAACTTGG CAGCGTTTAAAAATAGAGCCTGTGCGAGTGCAGCGTCTCTCCAACGGTGG TCTACACTCGAGAAACTTGGCAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1508492	C C	CCCCACCC others(343): Show CCCCACCCCTCACCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCC CACCACCCCCCACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACA AACCCCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACC ACCCCCCACCCCTCACCACCCCCTGCAAACCCCCGCCACCCCCTGCAAAC GCCCACCACCCCCCACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCA CACAAACCCCCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGC CCACCACCCCCCACCCCTCACCACCCCCCCGCAAACCCCCGCCACCCCCC A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	350	c.172 others(367): Show c.172+7063_172+7064insCACCCCTCACCACCCCCTGCAAACCCCC GCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCTGCA AACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGCAAACCCCCGCCA CCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCTGCAAACC CCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCT GCAAACCCCCACCCCCCCACACAAACCCCCCGCCACCCCCTGCAAACCCC CGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCCCG CAAACCCCCGCCACCCCCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554834	G G	GAAGGTAA others(343): Show GAAGGTAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAG AAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0038 a0001c0001t0016g0038	1	126	0.0079	350	c.199 others(369): Show c.1993-9501_1993-9500insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCTTACCTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNA2_chr10_68409064_68476973	68459337	C C	CAAAAAAA others(343): Show CAAAAAAATACATATAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	326	0.0031	350	c.588 others(365): Show c.588-103_588-102insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCGCTTATATGTATTTTTTT	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	4/20			chr10	TogoVar
DNAH10_chr12_123757301_123940714	123911794	T T	TGGGGGGT others(343): Show TGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTC TGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGGTCT GTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGG GAGGGGTCTGTCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGG TCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTG TCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTG G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0065 a0005c0065	a0005c0065t0001 a0005c0065t0001	a0005c0065t0001g0042 a0005c0065t0001g0042	1	170	0.0059	350	c.101 others(371): Show c.10134+1144_10134+1145insTCTGTCCTGGGGGAGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGC GTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGG TCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCC TGGGAGGGGTCTGTCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGT CTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTC CTGGGGGGGGTCTGTCCTGGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH12_chr3_57288700_57549344	57390450	T T	TACACATA others(343): Show TACACATACATATACATATATACACATACATATACATATATACACATACA TATACATATATACACATACATATACATATATACACATACATATACATATA TACACATACATATATATATACATATATATACATATATATATACGTATATA TATATACGTGTATATATATACACGTATATATATATACGTGTGTATATATA CACATATATATATACACATATATATATATACACATATATATATACACATA TATATATATATACACATATATATATATACACATATATATATATACACACA CATATATATATATATATATATATATATATACATATATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0071 a0071	a0071c0066 a0071c0066	a0071c0066t0001 a0071c0066t0001	a0071c0066t0001g0095 a0071c0066t0001g0095	1	266	0.0038	350	c.730 others(369): Show c.7305+1421_7305+1422insGTATATATATATATATATATGTATAT ATATATATATATATATATATATATGTGTGTGTATATATATATATGTGTAT ATATATATATGTGTATATATATATATATGTGTATATATATATGTGTATAT ATATATATGTGTATATATATATGTGTATATATACACACGTATATATATAT ACGTGTATATATATACACGTATATATATATACGTATATATATATGTATAT ATATGTATATATATATGTATGTGTATATATGTATATGTATGTGTATATAT GTATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTAT GTGTATATATGTATATGTATGTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390450	T T	TATATACA others(343): Show TATATACACATACATATACATATATACACATACATATACATATATACACA TACATATACATATATACACATACATATACATATATACACATACATATACA TATATACACATACATATATATATACATATATATACATATATATATACGTA TATATATATACGTGTATATATATACACGTATATATATATACGTGTGTATA TATACACATATATATATACACATATATATATATACACATATATATATACA CATATATATATATATACACATATATATATATACACATATATATATATACA CACACATATATATATATATATATATATATACATATATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0001	a0015c0013t0001g0101 a0015c0013t0001g0101	1	266	0.0038	350	c.730 others(369): Show c.7305+1421_7305+1422insGTATATATATATATATATATGTATAT ATATATATATATATATATATGTGTGTGTATATATATATATGTGTATATAT ATATATGTGTATATATATATATATGTGTATATATATATGTGTATATATAT ATATGTGTATATATATATGTGTATATATACACACGTATATATATATACGT GTATATATATACACGTATATATATATACGTATATATATATGTATATATAT GTATATATATATGTATGTGTATATATGTATATGTATGTGTATATATGTAT ATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGT ATATATGTATATGTATGTGTATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DOCK8_chr9_209865_470255	262448	T T	TAAAAAAA others(343): Show TAAAAAAAACCATGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0188 a0005c0013t0001g0188	1	256	0.0039	350	c.54- others(365): Show c.54-9164_54-9163insTGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAACCATGTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(343): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATATA TATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATATA TAGTATATATAGTATATATGTATATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATATA G	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	316	0.0032	350	c.355 others(369): Show c.355-25620_355-25619insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATA TATATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(343): Show ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATA TATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATAGTATATATGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATAGTATATATATA G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01952.hp1 HG00735.hp2 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0145 a0001c0002t0001g0126 a0001c0002t0001g0145	2	316	0.0063	350	c.355 others(369): Show c.355-25620_355-25619insGTATATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTGTATATATATAGTGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYNC2H1_chr11_103104426_103484863	103166380	G G	GGAGAACA others(343): Show GGAGAACAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0028 a0028	a0028c0066 a0028c0066	a0028c0066t0001 a0028c0066t0001	a0028c0066t0001g0205 a0028c0066t0001g0205	1	262	0.0038	350	c.476 others(367): Show c.4762+346_4762+347insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCTGAGAACAATCTTTT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	31/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
EFEMP1_chr2_55860967_55928782	55873983	T T	TAAAAACA others(343): Show TAAAAACACCTTGACCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCATTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	350	0.0029	350	c.100 others(367): Show c.1000+962_1000+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCAGGTCAAGGTGTTTTT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	9/11			chr2	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(343): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGCAAGGGGCGCC TCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAG CTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	322	0.0031	350	c.976 others(365): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(343): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGCC TCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAG CTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0118 a0001c0001t0002g0126	2	322	0.0062	350	c.976 others(365): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(343): Show TGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGCC TCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAG CTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	322	0.0031	350	c.976 others(365): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21166095	T T	TGACTATA others(343): Show TGACTATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	312	0.0032	350	c.-27 others(371): Show c.-272+10079_-272+10080insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGACTATAGTC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCACCACC others(343): Show CCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCC CATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCC TACCACCACCATCACCACCATCCCCATCCACACCCCCACCACCATCCTCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	250	0.0040	350	c.259 others(369): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGGAT GGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTG ATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGCTGTGGATGGGGATGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELMOD3_chr2_85349769_85396748	85362448	T T	TAAGATAA others(343): Show TAAGATAATTGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	386	0.0026	350	c.129 others(365): Show c.129+201_129+202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGATAATTGCCA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENTREP2_chr15_29115252_29575979	29526430	A A	ACAGACTG others(343): Show ACAGACTGCTACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTG CGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCACCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0058 a0001c0019t0001g0058	1	125	0.0080	350	c.219 others(369): Show c.219+44074_219+44075insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAAGTAGCAGTCTG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ESPNL_chr2_238095340_238138287	238098563	A A	AGGACCGC others(343): Show AGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCACATAGGACCGC CCACATAGGACCGCCCACATGGGAACGCCCACATAGAACCGCCCACATAG GACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATGGGACCGCCC ACATGGGAACGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGA ACGCCCACATGGGACCGCCCACATGGGAACGCCCACATAGAACCGTCCAC ATGGGACCGCCCACATGGGAACGCCCACATAGAACCGCCCACATGGGACC GCCCACATAGAACCGTCCACATGGGACCGCCCACATAGAACCGTCCACAT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0068 a0003c0068	a0003c0068t0001 a0003c0068t0001	a0003c0068t0001g0194 a0003c0068t0001g0194	1	408	0.0025	350	c.-18 others(361): Show c.-1857_-1856insGGACCGCCCACATGGGAACGCCCACATGGGAACG CCCACATAGGACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATA GAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTC CACATGGGACCGCCCACATGGGAACGCCCACATAGAACCGCCCACATAGG ACCGCCCACATGGGAACGCCCACATGGGACCGCCCACATGGGAACGCCCA CATAGAACCGTCCACATGGGACCGCCCACATGGGAACGCCCACATAGAAC CGCCCACATGGGACCGCCCACATAGAACCGTCCACATGGGACCGCCCACA TAGAACCGTCCACATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1776		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110211	G G	GGATGCCA others(343): Show GGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCATACGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCACACATTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCACACGTTACCGAGGGTCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCACACGTTACCGAGTGCCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCACACGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCACACGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTA A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02698.hp1 HG03490.hp1 others(1): Show HG01168.hp2 HG02698.hp1 HG03490.hp1 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0015 a0003c0029 a0001c0015 a0003c0029	a0001c0015t0004 a0003c0029t0001 a0001c0015t0004 a0003c0029t0001	a0001c0015t0004g0014 a0001c0015t0004g0177 a0003c0029t0001g0014 a0001c0015t0004g0014 a0001c0015t0004g0177 a0003c0029t0001g0014	4	408	0.0098	350	c.855 others(367): Show c.855+2239_855+2240insATGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATACGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCACACATTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCACACGTTACCGAGGGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCACACGTTACCGAGTGCCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCACACGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCACACGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAAG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110211	G G	GGATGCCA others(343): Show GGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCATACGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCATACATTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCACACGTTACCGAGGGTCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCACACGTTACCGAGTGCCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCACACGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTA GGATGCCACACGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTA A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01167.hp2 others(32): Show HG00099.hp2 HG00738.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02300.hp2 HG02735.hp2 HG02976.hp2 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18950.hp2 NA18973.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0012 a0016 a0030	a0001c0015 a0001c0028 a0001c0050 others(12): Show a0001c0015 a0001c0028 a0001c0050 a0002c0001 a0002c0072 a0003c0013 a0003c0029 a0003c0068 a0004c0026 a0006c0069 a0007c0022 a0011c0070 a0012c0073 a0016c0074 a0030c0128	a0001c0015t0003 a0001c0015t0004 a0001c0015t0009 others(15): Show a0001c0015t0003 a0001c0015t0004 a0001c0015t0009 a0001c0015t0013 a0001c0028t0003 a0001c0050t0003 a0002c0001t0007 a0002c0072t0002 a0003c0013t0001 a0003c0029t0001 a0003c0068t0001 a0004c0026t0005 a0006c0069t0003 a0007c0022t0003 a0011c0070t0011 a0012c0073t0004 a0016c0074t0001 a0030c0128t0007	a0001c0015t0003g0183 a0001c0015t0004g0002 a0001c0015t0009g0182 others(29): Show a0001c0015t0003g0183 a0001c0015t0004g0002 a0001c0015t0009g0182 a0001c0015t0013g0184 a0001c0015t0013g0193 a0001c0028t0003g0179 a0001c0028t0003g0186 a0001c0028t0003g0187 a0001c0050t0003g0232 a0002c0001t0007g0030 a0002c0001t0007g0168 a0002c0001t0007g0169 a0002c0001t0007g0170 a0002c0072t0002g0002 a0003c0013t0001g0221 a0003c0013t0001g0222 a0003c0029t0001g0002 a0003c0068t0001g0194 a0004c0026t0005g0171 a0004c0026t0005g0173 a0004c0026t0005g0180 a0004c0026t0005g0181 a0004c0026t0005g0188 a0006c0069t0003g0175 a0007c0022t0003g0002 a0007c0022t0003g0174 a0007c0022t0003g0176 a0007c0022t0003g0178 a0011c0070t0011g0191 a0012c0073t0004g0185 a0016c0074t0001g0002 a0030c0128t0007g0167	35	408	0.0858	350	c.855 others(367): Show c.855+2239_855+2240insATGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATACGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATACATTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCACACGTTACCGAGGGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCACACGTTACCGAGTGCCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCACACGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCACACGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAAG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110653	C C	CCTGTCCC others(343): Show CCTGTCCCAGGATCCCATTTAGGGTGCCATATGATACCGAGTGTCCCTTT CCTGTCCCAGGATCCCATTTAGGATGCCATATGTTACCGAGTTTCCCTTT CCTGTCCCAGGATCCCATTTAGGTTGCCATATGATACCGAGTGTCCCTTT TCTGTCCCAGGATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTT TCTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTT TCTGTCCCAGGATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTT ACTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTT T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01109.hp2 others(43): Show HG00438.hp2 HG00597.hp2 HG01109.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03486.hp2 HG04204.hp1 NA18948.hp1 NA18949.hp2 NA18961.hp2 NA18966.hp2 NA18974.hp2 NA18979.hp1 NA18990.hp2 NA19004.hp1 NA19007.hp2 NA19057.hp2 NA19067.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0017 a0036	a0001c0005 a0001c0008 a0001c0038 others(15): Show a0001c0005 a0001c0008 a0001c0038 a0001c0050 a0002c0001 a0002c0004 a0002c0122 a0003c0013 a0003c0089 a0004c0037 a0005c0019 a0006c0006 a0006c0051 a0007c0123 a0008c0023 a0011c0124 a0017c0125 a0036c0126	a0001c0005t0003 a0001c0008t0004 a0001c0038t0009 others(17): Show a0001c0005t0003 a0001c0008t0004 a0001c0038t0009 a0001c0050t0009 a0002c0001t0002 a0002c0001t0020 a0002c0004t0007 a0002c0122t0002 a0003c0013t0001 a0003c0013t0015 a0003c0089t0012 a0004c0037t0005 a0005c0019t0001 a0006c0006t0003 a0006c0051t0003 a0007c0123t0003 a0008c0023t0010 a0011c0124t0011 a0017c0125t0002 a0036c0126t0002	a0001c0005t0003g0050 a0001c0008t0004g0085 a0001c0038t0009g0136 others(32): Show a0001c0005t0003g0050 a0001c0008t0004g0085 a0001c0038t0009g0136 a0001c0050t0009g0140 a0002c0001t0002g0001 a0002c0001t0002g0029 a0002c0001t0002g0130 a0002c0001t0002g0133 a0002c0001t0002g0137 a0002c0001t0002g0149 a0002c0001t0002g0151 a0002c0001t0020g0001 a0002c0004t0007g0125 a0002c0122t0002g0150 a0003c0013t0001g0139 a0003c0013t0001g0144 a0003c0013t0015g0156 a0003c0089t0012g0119 a0004c0037t0005g0001 a0004c0037t0005g0029 a0005c0019t0001g0013 a0005c0019t0001g0141 a0005c0019t0001g0154 a0005c0019t0001g0158 a0006c0006t0003g0025 a0006c0006t0003g0026 a0006c0051t0003g0028 a0007c0123t0003g0145 a0008c0023t0010g0110 a0008c0023t0010g0123 a0008c0023t0010g0127 a0008c0023t0010g0162 a0011c0124t0011g0155 a0017c0125t0002g0148 a0036c0126t0002g0138	46	408	0.1128	350	c.855 others(367): Show c.855+2702_855+2703insGTGCCATATGATACCGAGTGTCCCTTTC CTGTCCCAGGATCCCATTTAGGATGCCATATGTTACCGAGTTTCCCTTTC CTGTCCCAGGATCCCATTTAGGTTGCCATATGATACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTTA CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110653	C C	CCTGTCCC others(343): Show CCTGTCCCAGGATCCCATTTAGGGTGCCATATGATACCGAGTGTCCCTTT CCTGTCCCAGGATCCCATTTAGGATGCCATATGTTACCGAGTTTCCCTTT CCTGTCCCAGGATCCCATTTAGGTTGCCATATGATACCGAGTGTCCCTTT TCTGTCCCAGGATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTT TCTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTT TCTGTCCCAGGATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTT ACTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTT T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0021 a0021	a0021c0055 a0021c0055	a0021c0055t0003 a0021c0055t0003	a0021c0055t0003g0124 a0021c0055t0003g0124	1	408	0.0025	350	c.855 others(367): Show c.855+2702_855+2703insGTGCCATATGATACCGAGTGTCCCTTTC CTGTCCCAGGATCCCATTTAGGATGCCATATGTTACCGAGTTTCCCTTTC CTGTCCCAGGATCCCATTTAGGTTGCCATATGATACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTTA CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(343): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCGTTTACTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0021 a0003c0009t0021	a0003c0009t0021g0077 a0003c0009t0021g0077	1	408	0.0025	350	c.855 others(367): Show c.855+2812_855+2813insTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCGTTTACTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(343): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGTCATATGTTACCGAGTGTCCCTTTACTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0003 a0006c0045t0003	a0006c0045t0003g0204 a0006c0045t0003g0204	1	408	0.0025	350	c.855 others(367): Show c.855+2812_855+2813insTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTTACTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(343): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGTCATATGTTACCGAGTGTCCGTTTACTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(68): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01496.hp2 HG01978.hp2 HG02015.hp1 HG02083.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03710.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18949.hp1 NA18951.hp2 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp2 NA18977.hp2 NA18985.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19043.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0026 a0032 a0034 a0039 a0042 a0043 a0045	a0001c0012 a0001c0016 a0001c0018 others(24): Show a0001c0012 a0001c0016 a0001c0018 a0001c0048 a0001c0101 a0002c0031 a0002c0081 a0002c0098 a0003c0009 a0003c0024 a0003c0044 a0003c0082 a0003c0097 a0004c0083 a0004c0104 a0005c0027 a0005c0102 a0006c0047 a0007c0100 a0009c0025 a0026c0129 a0032c0106 a0034c0099 a0039c0105 a0042c0084 a0043c0080 a0045c0095	a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 others(31): Show a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 a0001c0018t0001 a0001c0018t0003 a0001c0018t0006 a0001c0018t0016 a0001c0048t0004 a0001c0101t0016 a0002c0031t0002 a0002c0031t0007 a0002c0081t0005 a0002c0098t0002 a0003c0009t0006 a0003c0024t0001 a0003c0024t0028 a0003c0044t0006 a0003c0082t0006 a0003c0097t0017 a0004c0083t0005 a0004c0104t0005 a0005c0027t0001 a0005c0027t0022 a0005c0102t0001 a0006c0047t0003 a0007c0100t0003 a0009c0025t0002 a0026c0129t0002 a0032c0106t0001 a0034c0099t0003 a0039c0105t0026 a0042c0084t0007 a0043c0080t0006 a0045c0095t0006	a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 others(62): Show a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 a0001c0012t0003g0049 a0001c0012t0006g0023 a0001c0012t0006g0079 a0001c0016t0004g0007 a0001c0016t0004g0022 a0001c0016t0004g0080 a0001c0016t0004g0081 a0001c0018t0001g0041 a0001c0018t0001g0216 a0001c0018t0003g0035 a0001c0018t0003g0233 a0001c0018t0003g0266 a0001c0018t0006g0258 a0001c0018t0016g0215 a0001c0048t0004g0269 a0001c0048t0004g0273 a0001c0101t0016g0016 a0002c0031t0002g0262 a0002c0031t0002g0272 a0002c0031t0002g0279 a0002c0031t0007g0161 a0002c0081t0005g0023 a0002c0098t0002g0254 a0003c0009t0006g0006 a0003c0009t0006g0056 a0003c0009t0006g0057 a0003c0009t0006g0058 a0003c0009t0006g0059 a0003c0009t0006g0060 a0003c0009t0006g0062 a0003c0024t0001g0227 a0003c0024t0001g0230 a0003c0024t0001g0259 a0003c0024t0001g0268 a0003c0024t0001g0281 a0003c0024t0028g0267 a0003c0044t0006g0078 a0003c0044t0006g0084 a0003c0082t0006g0083 a0003c0097t0017g0270 a0004c0083t0005g0019 a0004c0104t0005g0264 a0005c0027t0001g0006 a0005c0027t0001g0018 a0005c0027t0001g0047 a0005c0027t0001g0082 a0005c0027t0022g0018 a0005c0102t0001g0226 a0006c0047t0003g0035 a0006c0047t0003g0261 a0007c0100t0003g0225 a0009c0025t0002g0016 a0009c0025t0002g0034 a0009c0025t0002g0260 a0009c0025t0002g0263 a0026c0129t0002g0034 a0032c0106t0001g0231 a0034c0099t0003g0265 a0039c0105t0026g0256 a0042c0084t0007g0044 a0043c0080t0006g0019 a0045c0095t0006g0196	71	408	0.1740	350	c.855 others(367): Show c.855+2812_855+2813insTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCGTTTACTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(343): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGTCATGTGTTACCGAGTGTCCCTTTACTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02109.hp2 HG01993.hp2 HG02109.hp2	a0002 a0002	a0002c0066 a0002c0118 a0002c0066 a0002c0118	a0002c0066t0007 a0002c0118t0007 a0002c0066t0007 a0002c0118t0007	a0002c0066t0007g0163 a0002c0118t0007g0153 a0002c0066t0007g0163 a0002c0118t0007g0153	2	408	0.0049	350	c.855 others(367): Show c.855+2812_855+2813insTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGGTGTCATGTGTTACCGAGTGTCCCTTTACTGTCCCAGG ATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGG ATCCCATTTAGGATGCCATATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(343): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGTCATATGTTACCGAGTGTCCCTTTACTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0003 a0006c0045t0003	a0006c0045t0003g0205 a0006c0045t0003g0205	1	408	0.0025	350	c.855 others(367): Show c.855+2802_855+2803insGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCCTTTA CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238110726	T T	TTGCCATA others(343): Show TTGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG GTGTCATATGTTACCGAGTGTCCGTTTACTGTCCCAGGATCCCATTTAGG GTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG ATGCCATATGATACCGAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGG A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0048 a0001c0012t0003g0048	1	408	0.0025	350	c.855 others(367): Show c.855+2802_855+2803insGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGGTGTCATATGTTACCGAGTGTCCGTTTA CTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGTTACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTTT CTGTCCCAGGATCCCATTTAGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(343): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACACCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCCCACCCCGGACCCACGAGGGATGCTCTG CCGACACCCCACCCCGGAATCACGAGGGATGCTCTGCCGACACCCCACCC C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0005 a0008c0020t0001g0005	1	82	0.0122	350	c.218 others(367): Show c.2184+997_2184+998insGGGGTGGGGTGTCGGCAGAGCATCCCTC GTGATTCCGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTG GGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAG CATCCCTGGTCCAGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGG GGTGAGGTGTCGGCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCA GAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTG GGTCTGGGGTGAGGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTC GGCAGAGCATCCCTCGTGGGTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(343): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACACCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCCCACCCCGGACCCACGAGGGATGCTCTG CCGACACCCCACCCCGGAATCATGAGGGATGCTCTGCCGACACCCCACCC C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19043.hp1 NA18522.hp2 NA19043.hp1	a0014 a0028 a0014 a0028	a0014c0029 a0028c0034 a0014c0029 a0028c0034	a0014c0029t0001 a0028c0034t0001 a0014c0029t0001 a0028c0034t0001	a0014c0029t0001g0024 a0028c0034t0001g0067 a0014c0029t0001g0024 a0028c0034t0001g0067	2	82	0.0244	350	c.218 others(367): Show c.2184+997_2184+998insGGGGTGGGGTGTCGGCAGAGCATCCCTC ATGATTCCGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTG GGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAG CATCCCTGGTCCAGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGG GGTGAGGTGTCGGCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCA GAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTG GGTCTGGGGTGAGGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTC GGCAGAGCATCCCTCGTGGGTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(343): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACACCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCCCACCCCGGACCCACGAGGGATGCTCTG CCGACACCCCACCCCGGAATCATGAGGGATGCTCTGCCGACACCTCACCC C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01069.hp2 others(5): Show HG00280.hp1 HG00323.hp2 HG01069.hp2 HG01256.hp2 HG02257.hp1 HG02683.hp1 HG03098.hp1 HG03209.hp2	a0005 a0007 a0009 others(2): Show a0005 a0007 a0009 a0015 a0021	a0005c0005 a0007c0010 a0009c0008 others(2): Show a0005c0005 a0007c0010 a0009c0008 a0015c0028 a0021c0023	a0005c0005t0001 a0007c0010t0001 a0009c0008t0001 others(2): Show a0005c0005t0001 a0007c0010t0001 a0009c0008t0001 a0015c0028t0001 a0021c0023t0001	a0005c0005t0001g0018 a0005c0005t0001g0066 a0007c0010t0001g0021 others(5): Show a0005c0005t0001g0018 a0005c0005t0001g0066 a0007c0010t0001g0021 a0007c0010t0001g0079 a0009c0008t0001g0012 a0009c0008t0001g0013 a0015c0028t0001g0080 a0021c0023t0001g0004	8	82	0.0976	350	c.218 others(367): Show c.2184+997_2184+998insGGGGTGAGGTGTCGGCAGAGCATCCCTC ATGATTCCGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTG GGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAG CATCCCTGGTCCAGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGG GGTGAGGTGTCGGCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCA GAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTG GGTCTGGGGTGAGGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTC GGCAGAGCATCCCTCGTGGGTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329197	G G	GTCACACG others(343): Show GTCACACGGGACTACACGGGGTCACACGGGACTACACGGGGCTACACGGG ACTACACGGGGCTACACGGGACTACACAGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGGCTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGAGTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGG GCTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGG ACTACACGGGGTGACACGGGACTACACGGGGCTACACGGGGCTACACGGG A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	82	0.0122	350	c.199 others(369): Show c.1999-5055_1999-5054insTCCCGTGTAGCCCCGTGTAGCCCCGT GTAGTCCCGTGTCACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTACTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGT GTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329197	G G	GTCACACG others(343): Show GTCACACGGGACTACACGGGGTCACACGGGACTACACGGGGCTACACGGG ACTACACGGGGCTACACGGGACTACACAGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGGCTACACGGG ACTACACGGGGCTACACGGGGTCACACGGGACTACACGGGAGTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGG GCTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGG ACTACACGGGGTGACACGGGACTACACGGGGCTACACGGGGCTACACGGG A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	82	0.0122	350	c.199 others(369): Show c.1999-5055_1999-5054insTCCCGTGTAGCCCCGTGTAGCCCCGT GTAGTCCCGTGTCACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTACTCCCGTGTAGTCCCGT GTGACCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGT GTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329412	G G	GTCACACG others(343): Show GTCACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGG ACTACATGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0024 a0024	a0024c0017 a0024c0017	a0024c0017t0001 a0024c0017t0001	a0024c0017t0001g0007 a0024c0017t0001g0007	1	82	0.0122	350	c.199 others(369): Show c.1999-5270_1999-5269insTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCATGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329746	A A	ACTACACG others(343): Show ACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGG ACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGG GCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGCTACACGGG GCTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGG GCTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGG G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0038 a0018c0022t0001g0038	1	82	0.0122	350	c.199 others(369): Show c.1999-5604_1999-5603insCCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGT GTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	519726	G G	GCACCGAG others(343): Show GCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0157 a0001c0003t0007g0157	1	272	0.0037	350	c.238 others(371): Show c.2380+12742_2380+12743insGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520238	G G	GACACTCA others(343): Show GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC CACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC C	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20752.hp2 HG02055.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0204 a0001c0001t0022g0214 a0001c0001t0001g0204 a0001c0001t0022g0214	2	272	0.0074	350	c.238 others(371): Show c.2380+12230_2380+12231insGGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTGGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520476	C C	CCACCGAG others(343): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0029 a0001c0003t0016g0029	1	272	0.0037	350	c.238 others(371): Show c.2380+11992_2380+11993insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	521074	A A	ACCCACCG others(343): Show ACCCACCGAGCGCCAACACTCACCGTCCACACTCGGACATGAAAATCACC ACCCACCGAGCGCCAACACTCACCGTCCACACTCGGAGATGAAAACAACC ACCCACCGAGCCCCAATACTCACCGTCCACACTCGGAGATGAAAACAACC GCCCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGAGGAAAACCACC ACCCACCGAGCGCCGACACTCGCCGTCCACACTCGGACATGAAAACCACC ACCCATCGAGCGCCAACACTCACCGTCCACACTCGGAGATGAAAACAACC ACCCACCGAGCCCCGATACTCACCGTCCACACTCGGAGATGAAAACAACC G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp2 HG02630.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0111 a0001c0001t0007g0150 a0001c0001t0003g0111 a0001c0001t0007g0150	2	272	0.0074	350	c.238 others(371): Show c.2380+11394_2380+11395insCGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTATCGGGGCTCGGTGGGTGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGATGGGTGGTGGTTTTCATGTCCGAGTGTG GACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTTTCCTCTCCGAGTGTG GACGGCGAGTGTCGGCGCTCGGTGGGCGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTATTGGGGCTCGGTGGGTGGTTGTTTTCATCTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGGTGGGTGGTGATTTTCATGTCCGAGTGTG GACGGTGAGTGTTGGCGCTCGGTGGG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar

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