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
CNOT3_chr19_54132762_54160681	54133793	T T	TCTCTCCC others(219): Show TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	223	0.0045	226	c.-42 others(237): Show c.-4251_-4250insCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3968		chr19	TogoVar
COL21A1_chr6_56051590_56252580	56098124	A A	AGTATATA others(219): Show AGTATATAAATATATATATAAATATATATAAGTATATAAATATATATATA AATATATATAAGTATATAAATATATATAAATATATATAAGTATCTAAATA TATATATAAATATATATAAGTATATATAAATATATATAAATATATATAAG TATATATAAATATATAAAAATATATATAAGTATATATAAATATATATAAA TATATATAAATATATGCAAATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	264	0.0038	226	c.181 others(245): Show c.1812+3347_1812+3348insATATATATTTGCATATATTTATATAT ATTTATATATATTTATATATACTTATATATATTTTTATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATATTTAGATACTTATATATATTTATATATATTTATATACTTATATATAT TTATATATATATTTATATACTTATATATATTTATATATATATTTATATAC	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178420435	G G	GCTCTTTC others(219): Show GCTCTTTCCTCCTCCCCTCCCCACCTCTATCCTCCTCCCCTCCCCCGCTC TTTCCTCCTCCCCTCCCCCCTTTTTCCTCCTCTCCTCCCCCTCCTCACTT TCCTCCTCCCCTCCCTGAGATGTGACCTCCCTCCTCCCCTCTCCCACTCT TTCTCCTTCCCCTCCCCCCTTCCCCCCCTTTCCCCCTCCCCTCCCTGAGA TGTGACCTCCCTTCTCCCCTGCCCCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02071.hp1 HG02132.hp1 others(1): Show HG00558.hp2 HG02071.hp1 HG02132.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0002c0002t0001 a0002c0003t0002 a0001c0001t0002 a0002c0002t0001 a0002c0003t0002	a0001c0001t0002g0055 a0002c0002t0001g0051 a0002c0002t0001g0219 others(1): Show a0001c0001t0002g0055 a0002c0002t0001g0051 a0002c0002t0001g0219 a0002c0003t0002g0016	4	236	0.0170	226	c.362 others(247): Show c.362-113517_362-113516insAAGGGGCAGGGGAGAAGGGAGGTC ACATCTCAGGGAGGGGAGGGGGAAAGGGGGGGAAGGGGGGAGGGGAAGGA GAAAGAGTGGGAGAGGGGAGGAGGGAGGTCACATCTCAGGGAGGGGAGGA GGAAAGTGAGGAGGGGGAGGAGAGGAGGAAAAAGGGGGGAGGGGAGGAGG AAAGAGCGGGGGAGGGGAGGAGGATAGAGGTGGGGAGGGGAGGAGGAAAG AG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101359188	C C	CCCTCCCG others(219): Show CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACTCCCCCACCTCC CTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0029	1	174	0.0058	226	c.-38 others(237): Show c.-3845_-3844insCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCT GACTCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		3686		chr7	TogoVar
COL26A1_chr7_101357875_101564024	101359225	A A	ACCCCCCC others(219): Show ACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC TCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCAGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0010 a0001c0002t0006g0010	1	174	0.0058	226	c.-38 others(237): Show c.-3808_-3807insCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACTCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCA GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCTGAC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		3649		chr7	TogoVar
COL4A1_chr13_110143963_110312157	110205470	T T	TAAAAACC others(219): Show TAAAAACCACAGAGAACATCCCGGCTAAAATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02615.hp1 others(1): Show HG01891.hp1 HG02451.hp1 HG02615.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0037 a0002c0004 a0002c0031 a0001c0037 a0002c0004 a0002c0031	a0001c0037t0001 a0002c0004t0001 a0002c0031t0001 a0001c0037t0001 a0002c0004t0001 a0002c0031t0001	a0001c0037t0001g0134 a0002c0004t0001g0226 a0002c0031t0001g0194 others(1): Show a0001c0037t0001g0134 a0002c0004t0001g0226 a0002c0031t0001g0194 a0002c0031t0001g0254	4	344	0.0116	226	c.903 others(239): Show c.903+23_903+24insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCATTTTAGCCGGGATGTTCTCTGTGGTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	16/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202860	T T	TGTGTATA others(219): Show TGTGTATATATACGTATATATACATATATGTGTATATATACGTATATATA CATATATGTGTATATATACGTATATATACATATATGTGTATATATACGTA TATATACATATATGTGTATATATACGTATATATACATATATGTGTATATA TACGTATATATACATATATGTGTATATATACATATATGTGTATATATGTG TATATATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0221 a0004c0003t0004g0221	1	344	0.0029	226	c.88- others(243): Show c.88-35108_88-35107insGTGTATATATACGTATATATACATATAT GTGTATATATACGTATATATACATATATGTGTATATATACGTATATATAC ATATATGTGTATATATACGTATATATACATATATGTGTATATATACGTAT ATATACATATATGTGTATATATACGTATATATACATATATGTGTATATAT ACATATATGTGTATATATGTGTATATATACATATATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(219): Show GCCCCGCCCCTCCCCGCCCCCCTCAGTCCGTGGCCCCGCCCCTCCCCGCC CCCTCAGTCCGTGGCCCCGCCCCTCCCTGCCCCCTCAGTCCGTGGCCCCG CCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACACCGGGAC CTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTCCC CCCCGCCGCCCCTGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0256 a0001c0002t0002g0256	1	348	0.0029	226	c.927 others(241): Show c.927+237_927+238insTCCCCGCCCCCCTCAGTCCGTGGCCCCGCC CCTCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCTCCCTGCCCCCTCAGTC CGTGGCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCC ACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATAC CTGGAGTCCCCCCCGCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923626	A A	AGCCCCCA others(219): Show AGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAA CCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACT AACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACA CTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCCACACTGACCC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0322 a0001c0022t0002g0322	1	350	0.0029	226	c.488 others(241): Show c.488+997_488+998insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTGACCCGCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924028	C C	CCCCCACA others(219): Show CCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCC AGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACC CAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCCACACTA ACCCAGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCACA CTAACCCGGCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp2 HG02809.hp1 HG03209.hp2	a0012 a0013 a0012 a0013	a0012c0013 a0013c0076 a0012c0013 a0013c0076	a0012c0013t0001 a0013c0076t0001 a0012c0013t0001 a0013c0076t0001	a0012c0013t0001g0106 a0013c0076t0001g0105 a0012c0013t0001g0106 a0013c0076t0001g0105	2	350	0.0057	226	c.488 others(243): Show c.488+1399_488+1400insCCCCCACACTAACCCGGCCCCCCACACT AACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACAC TAACCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCCA CACTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCC CCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924241	C C	CCCACACT others(219): Show CCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGC CCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCG GCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAAC CCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAA TCCGGCCCCCACACTAACCCGGCCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp2 HG01891.hp1 NA20300.hp2	a0006 a0028 a0006 a0028	a0006c0007 a0028c0047 a0006c0007 a0028c0047	a0006c0007t0001 a0028c0047t0001 a0006c0007t0001 a0028c0047t0001	a0006c0007t0001g0204 a0028c0047t0001g0202 a0006c0007t0001g0204 a0028c0047t0001g0202	2	350	0.0057	226	c.489 others(243): Show c.489-1482_489-1481insCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTG ACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACAC TAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924793	G G	GCCCCCAC others(219): Show GCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGTCCCCACACTAATCCGGCCCCCACACTAAC CCGGCCCCTCACACTAACCCGGCCCCTCACACTAACCCAGCCCCCACACT GACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACAC TAACCCGGCCCCTCACACTGACCCGGC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0001 a0021c0019t0001	a0021c0019t0001g0220 a0021c0019t0001g0220	1	350	0.0029	226	c.489 others(241): Show c.489-919_489-918insCCCGGCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAATCCGGCCCCCA CACTAACCCGGCCCCTCACACTAACCCGGCCCCTCACACTAACCCAGCCC CCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCAGCC CCCACACTAACCCGGCCCCTCACACTGACCCGGCCCCCCACACTAA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDP1_chr18_79674803_79759503	79691624	G G	GGAGTGGA others(219): Show GGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGC TCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGA CTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGG AGGAGTGGACGGCTCCCAGGGTGGACTCAGGGTGGGGAGGAGTGGACGGC TCCCAGGGCGGACTCGGGGTGGGAGAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	1	378	0.0027	226	c.315 others(243): Show c.315-3566_315-3565insGAGGAGTGGACGGCTCCCAGGGTGGACT CGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGA GGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCT CCCAGGGTGGACTCAGGGTGGGGAGGAGTGGACGGCTCCCAGGGCGGACT CGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691881	G G	GGGGGAGG others(219): Show GGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTG GACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCGGGGTGGGGGAGGAGGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	378	0.0027	226	c.315 others(243): Show c.315-3313_315-3312insCGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCG GGGTGGGGGAGGAGGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGG AGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCC CAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CUX2_chr12_111029165_111355554	111332298	A A	AATTTTTG others(219): Show AATTTTTGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp1 HG01891.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0008t0002 a0001c0004t0001 a0001c0008t0002	a0001c0004t0001g0002 a0001c0008t0002g0022 a0001c0004t0001g0002 a0001c0008t0002g0022	2	100	0.0200	226	c.292 others(245): Show c.2927-2128_2927-2127insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGATTTTTGTATTTTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(219): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	367	0.0027	226	c.-42 others(237): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	407920	C C	CCTGTCTC others(219): Show CCTGTCTCCGGGCCTCTGTCTCCGGCCCCCTGTCTCCGGCCCCCTGTCTC CGGGCCTCTGTCTCCGGCCCCCTGTCTCCGGGCCTCTGTCTCCGGCCCCC TGTCTCTGGGCCTCTGTCTCCGGGCCTCTGTCTCCGGCCCCCTGTCTCCG GGCCTCTGTCTCCGGCCCCCTGTCTCCGGGCCCCTGTCTCCGGGCCTCTG TCTCCGGCCCCCTGTCTCTGGGCCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0162 a0001c0006t0001g0162	1	367	0.0027	226	c.337 others(241): Show c.337+360_337+361insCTGTCTCCGGGCCTCTGTCTCCGGCCCCCT GTCTCCGGCCCCCTGTCTCCGGGCCTCTGTCTCCGGCCCCCTGTCTCCGG GCCTCTGTCTCCGGCCCCCTGTCTCTGGGCCTCTGTCTCCGGGCCTCTGT CTCCGGCCCCCTGTCTCCGGGCCTCTGTCTCCGGCCCCCTGTCTCCGGGC CCCTGTCTCCGGGCCTCTGTCTCCGGCCCCCTGTCTCTGGGCCTCT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8			chr16	TogoVar
DEPDC1B_chr5_60591912_60705166	60668233	T T	TTATATAT others(219): Show TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATAAAATGGATATTTTATATATATATAAAATGGATATT TTATATATATATAAAATGGATATTTTATATATATATATAAAATGGATATT TTATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTT ATATATATATATAAAATGGATATTATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	292	0.0034	226	c.314 others(245): Show c.314+18728_314+18729insTATAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATAAA ATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKI_chr7_137376037_137851974	137472306	G G	GTATATAC others(219): Show GTATATACATATAATATAATATGTATATACATATAATATTATATGTATAT ACATTAAATATTATATGTATATATATAATATTATATGTATATATACATAT AATTATTATATGTATATATACATATAATTATTATATGTATATATACATAA TATATGTATATATACATAATATATGTATATATACATATAATTATTATATG TATATATACATATAATTATTATATGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0075 a0001c0013t0003g0075	1	94	0.0106	226	c.237 others(245): Show c.2374-2688_2374-2687insTACATATAATAATTATATGTATATAT ACATATAATAATTATATGTATATATACATATATTATGTATATATACATAT ATTATGTATATATACATATAATAATTATATGTATATATACATATAATAAT TATATGTATATATACATATAATATTATATATATACATATAATATTTAATG TATATACATATAATATTATATGTATATACATATTATATTATATGTATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(219): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCACC CCCCTGGACCCCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTC CCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCC ACCTCCCAGCGCCCCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18985.hp2 NA18973.hp2 NA18985.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0051 a0002c0003t0003g0051	2	438	0.0046	226	c.663 others(241): Show c.663+102_663+103insACGGGGTCCAGGGGGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGGGGGGT GCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGG TGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(219): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCGCC CCCCTGGACCCCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTC CCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCC ACCTCCCAGCGCCCCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18962.hp1 NA19000.hp2 NA18941.hp1 NA18962.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0030 a0002c0003t0003 a0001c0001t0030 a0002c0003t0003	a0001c0001t0030g0084 a0002c0003t0003g0121 a0002c0003t0003g0127 a0001c0001t0030g0084 a0002c0003t0003g0121 a0002c0003t0003g0127	3	438	0.0069	226	c.663 others(241): Show c.663+102_663+103insACGGGGTCCAGGGGGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGGGGGGC GCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGG TGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(219): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCGCC CCCCTGGACCCCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTC CCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCC ACCTCCCAGCGCCTCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	438	0.0023	226	c.663 others(241): Show c.663+102_663+103insACGGGGTCCAGGGAGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGGGGGGC GCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGG TGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(219): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCGCC TCCCTGGACCCCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTC CCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCC ACCTCCCAGCGCCTCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0108 a0001c0002t0012g0108	1	438	0.0023	226	c.663 others(241): Show c.663+102_663+103insACGGGGTCCAGGGAGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGGGAGGC GCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGG TGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DGKQ_chr4_953887_978569	968199	G G	GCCAACTC others(219): Show GCCAACTCCTCCACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGCC CCACCCCCACCCCCTCCACCTCCCAGCGCCCCCCTGGACCCCGTGCCTCT CCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCCAACCCCG CACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCGCCCCCCTGG ACCCCGTGCCTCTCCTGCCCCGCCCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp1 NA18943.hp2 others(9): Show HG00621.hp1 HG02135.hp1 NA18943.hp2 NA18956.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp2 NA18993.hp2 NA19003.hp2 NA19057.hp1 NA19067.hp2 NA19079.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0025 a0001c0001 a0013c0025	a0001c0001t0002 a0001c0001t0037 a0013c0025t0002 a0001c0001t0002 a0001c0001t0037 a0013c0025t0002	a0001c0001t0002g0013 a0001c0001t0002g0053 a0001c0001t0002g0175 others(4): Show a0001c0001t0002g0013 a0001c0001t0002g0053 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0184 a0001c0001t0037g0174 a0013c0025t0002g0173	12	438	0.0274	226	c.663 others(239): Show c.663+82_663+83insGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGG GGGGCGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGG TTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGG CACGGGGTCCAGGGGGGCGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAG GAGAGGTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGAGTTGG	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DGKQ_chr4_953887_978569	968199	G G	GCCAACTC others(219): Show GCCAACTCCTCCACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGCC CCACCCCCACCCCCTCCACCTCCCAGCGCCCCCCTGGACCCCGTGCCTCT CCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCCAACCCCG CACCTCTCCTGCCCCACCCCCACCCCCTCGACTTCCCAGCGCCCACCTGG ACCCCGTGCCTCTCCTGCCCCGCCCCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0193 a0001c0007t0004g0193	1	438	0.0023	226	c.663 others(239): Show c.663+82_663+83insGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGG TGGGCGCTGGGAAGTCGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGG TTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGG CACGGGGTCCAGGGGGGCGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAG GAGAGGTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGAGTTGG	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DIP2C_chr10_269201_694668	417622	G G	GCCTGTCA others(219): Show GCCTGTCAGGGTTCGAATAGGCCTCCCTGTCCGCCTGTGCCTGTCGGCTC AAATAGGCCTCCCTGTCTGCCTGCGCCTGTCAGGGCTCGGATAGGCCTCC CTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGC ACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGAGC TCGGACAGGCCTCCCTGTCCACCTGCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	88	0.0114	226	c.739 others(243): Show c.739+1442_739+1443insTGCAGGTGGACAGGGAGGCCTGTCCGAG CTCTGACAGGTGCAGGTGGACAGGGAGGCCTGTCCGAGCTCTGACAGGTG CAGGTGGACAGGGAGGCCTATCCGAGCCCTGACAGGTGCAGGTGGACAGG GAGGCCTATCCGAGCCCTGACAGGCGCAGGCAGACAGGGAGGCCTATTTG AGCCGACAGGCACAGGCGGACAGGGAGGCCTATTCGAACCCTGACAGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608536	C C	CACACACA others(219): Show CACACACACCCCCCCCCCACACACACACACCCCCCCCACACACACACACC CCCCCACACACACACACACCCCCCCACACACACACCCCCCCCACACACAC ACACACCCCCCCCACACACACACCCCCCCCACACACACACACACCCCCCC CCCACACACACCCCCCCCACACACACACACACACCCCCCCCACACACACA CACACCCCCCCCCACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	88	0.0114	226	c.85+ others(243): Show c.85+80957_85+80958insATGTGTGTGTGTGTGGGGGGGGGTGTGT GTGTGTGTGGGGGGGGTGTGTGTGTGTGTGTGGGGGGGGTGTGTGTGGGG GGGGGGTGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGGGGGGGGTGTGTG TGTGTGTGGGGGGGGTGTGTGTGTGGGGGGGTGTGTGTGTGTGTGGGGGG GTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGGGGGTGTGTGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(219): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0086 a0004c0004t0002g0086	1	126	0.0079	226	c.199 others(245): Show c.1993-9591_1993-9590insCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNAI7_chr12_25103289_25200160	25106551	T T	TACAGTAG others(219): Show TACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAAG CAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCTC CCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCACA CACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTAA CTATTAGGATTAAAGAAATGCATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	336	0.0030	226	c.19 others(237): Show c.1996_*1997insGTATATGCATTTCTTTAATCCTAATAGTTACAAA GGGTGGGAGGCAGATTGTTTCCAAAACTATATATGTGTGTGTGTGTGCAT GTTTAACCATACTTTATTAAACACTTTAATCTCAGCACTTTGGGAGGCCA AGAAAGGGGATTCCTCCCAAGGATCTCAGGACTCCAGGGATTGCTTGAGC CCTGGAGTTGGAGGCTGTAGTGAGCTATGGTTGCACTACTGT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1737		chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(219): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGATATATATATCCCATATATATGATATATATATATATGGGATATA TATATCATATATATATCATATATATGGGATATATATATCATATATATCAT ATATATGGGATATATATATCATATATATCATATATATGGGATATATATAT CATATATATCATATATATGGGATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18951.hp1 HG00673.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0151 a0001c0001t0001g0152	2	336	0.0060	226	c.22- others(243): Show c.22-13175_22-13174insATATATCCCATATATATGATATATATGA TATATATATCCCATATATATGATATATATGATATATATATCCCATATATA TGATATATATGATATATATATCCCATATATATGATATATATATGATATAT ATATCCCATATATATATATATCATATATATGGGATATATATATCATATAT ATATCATATATATATCATATATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK1_chr10_126900428_127457516	126947442	G G	GTGGTGAT others(219): Show GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGG TAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GGTGGTGGTGGTTGGTAGTATTACTGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0003 a0002c0035t0003	a0002c0035t0003g0053 a0002c0035t0003g0053	1	136	0.0074	226	c.47- others(243): Show c.47-23255_47-23254insATGGTGGTGGTTGGTAGTATTACTGTTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGATGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGG TGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947974	G G	GTGGTGAT others(219): Show GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTAGTTG GTAGTATTACTGTTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGT GATGGTGGTGGTTGGTAGTATTACTGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0031 a0001c0009t0002g0031	1	136	0.0074	226	c.47- others(243): Show c.47-22723_47-22722insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTGGTAGTTGGTA GTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGG TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(219): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATTATATATATATTATATATATATTATATATATAT TATATATATAATATATATATAATATATATATTATATATAATATATATATA ATATATATATTATATATATATAATATATATAATATATATATAATATATAT ATTTAAAAGTATATATATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0003	2	298	0.0067	226	c.554 others(243): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATTATATATATATTATATATAT ATTATATATATATTATATATATAATATATATATAATATATATATTATATA TAATATATATATAATATATATATTATATATATATAATATATATAATATAT ATATAATATATATATTTAAAAGTATATATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(219): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTATATATATTATATATATAATATATATATAATA TATATATAATATATATATAATATATATATTTAAAAGTATATATATATATA TAATATATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	298	0.0034	226	c.554 others(243): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATAATATATATATTATATATATTATATA TATAATATATATATAATATATATATAATATATATATAATATATATATTTA AAAGTATATATATATATATAATATATATATATATAATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
EEFSEC_chr3_128148481_128413646	128330917	C C	CCCCGCTT others(219): Show CCCCGCTTCCTCAGTGCATCTCCCCTCTTCCCCCTTCCTCAGTGCATCTC CCCTCTTCCCCATTCCTCAGTGCATCTCCCCTCTTCCCCGCTTCCTCAGT GCATCTCCCCTCTTCCCCCTTCCTCAGTGCATCTCCCCTCTTCCCCCTTC CTCAGTGCATCTCCCCTCTTCCCCATTCCTCAGTGCATCTCCCCTCTTCC CCCCTTCCTCAGTGCATCTCCCCTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 NA20300.hp2 HG01109.hp2 HG01255.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0003t0001g0205	3	272	0.0110	226	c.787 others(245): Show c.787-10313_787-10312insGCTTCCTCAGTGCATCTCCCCTCTTC CCCCTTCCTCAGTGCATCTCCCCTCTTCCCCATTCCTCAGTGCATCTCCC CTCTTCCCCGCTTCCTCAGTGCATCTCCCCTCTTCCCCCTTCCTCAGTGC ATCTCCCCTCTTCCCCCTTCCTCAGTGCATCTCCCCTCTTCCCCATTCCT CAGTGCATCTCCCCTCTTCCCCCCTTCCTCAGTGCATCTCCCCTCTTCCC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
ELL_chr19_18437663_18527070	18442165	A A	ACCACACA others(219): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACCCACCCCAAC ACACACCACACACCCCACACTGCACACACCAACACACACCCTCACACCAC ACACCAACACACACCACACCCACACCACACATAACAAACCACACCCACAC CCAACACACATACCACATCCACACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03041.hp2 NA18906.hp2 HG02886.hp1 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0156 a0001c0004t0006g0157 a0001c0004t0006g0158 a0001c0004t0006g0156 a0001c0004t0006g0157 a0001c0004t0006g0158	3	244	0.0123	226	c.25 others(237): Show c.2586_*2587insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTGTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGT GAGGGTGTGTGTTGGTGTGTGCAGTGTGGGGTGTGTGGTGTGTGTTGGGG TGGGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGT GGGTGTGGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		497		chr19	TogoVar
ELL_chr19_18437663_18527070	18442165	A A	ACCACACA others(219): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACCCACCCCAAC ACACACCACACACCCCACACTGCACACCCCAACACACCACACCCTCACAC CACACACCAACACACACCACACCCACACCACACATAAACCACACCCACAC CCAACACACATACCACATCCACACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01081.hp2 others(35): Show HG00323.hp2 HG00733.hp2 HG01081.hp2 HG01258.hp2 HG01496.hp1 HG01884.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG02165.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02970.hp1 HG03017.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03834.hp2 HG03942.hp2 NA18964.hp2 NA19011.hp2 NA19043.hp2 NA19086.hp2 NA20129.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 others(2): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013 a0002c0002t0019	a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0016 others(35): Show a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0005g0117 a0002c0002t0005g0120 a0002c0002t0005g0123 a0002c0002t0005g0128 a0002c0002t0008g0116 a0002c0002t0013g0113 a0002c0002t0019g0131	38	244	0.1557	226	c.25 others(237): Show c.2586_*2587insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGTGAG GGTGTGGTGTGTTGGGGTGTGCAGTGTGGGGTGTGTGGTGTGTGTTGGGG TGGGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGT GGGTGTGGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		497		chr19	TogoVar
EPS8L2_chr11_701231_732727	720978	G G	GCCGGCAG others(219): Show GCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCAGG GGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCAGGGGAGGGGAG GAGCCCGGCAGGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGC AGGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGG GAGGAGCCGGCAGGGGAGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	406	0.0025	226	c.558 others(239): Show c.558-56_558-55insGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGC CCGGCAGGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGG GAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGG AGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCAG GGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(219): Show CCCGGCCCCGCCCCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGG CCCCTCCCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTC CGCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTCCGCCGC CCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCC CCGGCCCCTCCGCCGCCCCGCCCCGCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	378	0.0027	226	c.304 others(243): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGG CGGCGGAGGGGCCGGGGCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGG AGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGGGGAGGGGC CGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGGGGGCGGGGCCGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700479	G G	GGCGCACA others(219): Show GGCGCACAGACCCGCACACGCGCACAGGCCCGCACAGGCGCACAGACCCG CACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGG CCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACACGCGCA CAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACACG CGCACAGGCCCGCACAGGCCCGCACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01515.hp1 others(6): Show HG00099.hp2 HG00323.hp1 HG01515.hp1 HG01517.hp2 HG03654.hp1 HG04184.hp2 NA18985.hp1 NA18985.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0274 a0001c0002t0001g0030 a0001c0002t0002g0327 others(6): Show a0001c0001t0002g0274 a0001c0002t0001g0030 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0335 a0001c0002t0002g0337 a0001c0002t0002g0344 a0001c0002t0002g0345 a0001c0002t0002g0348	9	378	0.0238	226	c.170 others(243): Show c.170-7868_170-7867insGTGTGCGGGCCTGTGCGGGCCTGTGCGC GTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGT GCGCGTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGC CTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGC GGGTCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGTCTGTGCGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
EXOC6_chr10_92843520_93064490	92975823	C C	CCCGTCCG others(219): Show CCCGTCCGGGAGGTGAGGGGCGCCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAAGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGAGGGG GGGTCAGCCCCCCGCCCGACCAGCTGCCCCATCCGGGAGGGAGGTTGGGG GATCAGCCCCCCGCCCTGCCAGCCGCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	288	0.0035	226	c.195 others(245): Show c.1953+1614_1953+1615insCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAAGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGAGGGG GGGTCAGCCCCCCGCCCGACCAGCTGCCCCATCCGGGAGGGAGGTTGGGG GATCAGCCCCCCGCCCTGCCAGCCGCTCCGTCCGGGAGGTGAGGGGCGCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92975823	C C	CCCGTCCG others(219): Show CCCGTCCGGGAGGTGAGGGGCGCCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAAGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGAGGGG GGGTCAGCCCCCCGCCCGACCAGCTGCCCCGTCCGGGAGGGAGGTTGGGG GATCAGCCCCCCGCCCTGCCAGCCGCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG01070.hp2 others(39): Show HG00423.hp1 HG00735.hp2 HG01070.hp2 HG01109.hp1 HG01346.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG03225.hp1 NA18941.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18959.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18991.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19056.hp1 NA19064.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(39): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0146 a0001c0001t0001g0247	42	288	0.1458	226	c.195 others(245): Show c.1953+1614_1953+1615insCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAAGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGAGGGG GGGTCAGCCCCCCGCCCGACCAGCTGCCCCGTCCGGGAGGGAGGTTGGGG GATCAGCCCCCCGCCCTGCCAGCCGCTCCGTCCGGGAGGTGAGGGGCGCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92975823	C C	CCCGTCCG others(219): Show CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAAGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGAGGGG GGGTCAGCCCCCCGCCCGACCAGCTGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCCTGCCAGCCGCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	288	0.0035	226	c.195 others(245): Show c.1953+1657_1953+1658insCAGCCAGCCGCCCCGTCCGGGAAGGA GGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGAGGGGGGGTCAGCCCCCCGCCCGACCAGCTGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCCTGCCAGCCGCTCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92975823	C C	CCCGTCCG others(219): Show CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAAGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGAGGGGG GGGTCAGCCCCCCGCCCGACCAGCTGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCCTGCCAGCCGCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG04184.hp2 HG01261.hp1 HG01261.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0181 a0001c0001t0002g0183 a0002c0002t0001g0272 a0001c0001t0002g0181 a0001c0001t0002g0183 a0002c0002t0001g0272	3	288	0.0104	226	c.195 others(245): Show c.1953+1657_1953+1658insCAGCCAGCCGCCCCGTCCGGGAAGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GAGGGGGGGGTCAGCCCCCCGCCCGACCAGCTGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCCTGCCAGCCGCTCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC6_chr10_92843520_93064490	92975823	C C	CCCGTCCG others(219): Show CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAAGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGAGGGGG GGGTCAGCCCCCCGCCCGACCAGCTGCCCCGTCCGGGAGGGAGGTTGGGG GATCAGCCCCCCGCCCTGCCAGCCGCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	288	0.0035	226	c.195 others(245): Show c.1953+1657_1953+1658insCAGCCAGCCGCCCCGTCCGGGAAGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GAGGGGGGGGTCAGCCCCCCGCCCGACCAGCTGCCCCGTCCGGGAGGGAG GTTGGGGGATCAGCCCCCCGCCCTGCCAGCCGCTCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EYS_chr6_63714980_65712226	64295354	G G	GAGGAGGA others(219): Show GAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGAAGCAGAAGGAGAA GAAGCAGAAGCAGAAGCAGAAGCAGAAGAAGAAGCAGAAGCAGCAGAAGA AGCAGGAGCAGCAGAAGCAGAAGAAGAAGCAGAAGCAGAAGCAGAAGCAG AAGCAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0012 a0001c0009t0001g0012	1	24	0.0417	226	c.619 others(247): Show c.6191+11615_6191+11616insTGCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTG CTTCTGCTTCTGCTTCTGCTTCTGCTTCTTCTTCTGCTTCTGCTGCTCCT GCTTCTTCTGCTGCTTCTGCTTCTTCTTCTGCTTCTGCTTCTGCTTCTGC TTCTTCTCCTTCTGCTTCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTC CT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(219): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATATACATATATATATACACATATATATATACATATATATATA CACATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	372	0.0027	226	c.63+ others(241): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATATATATA TACATATATATATACACATATATATACATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451821	T T	TATACATA others(219): Show TATACATATATATATACACATATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	372	0.0027	226	c.63+ others(241): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATATATATA TACATATATATATACACATATATATATACATATATATATACACATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FANCD2_chr3_10021437_10106932	10070509	G G	GCTCAGCC others(219): Show GCTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGTCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGC CGCCCAGTCCGGGAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp1 HG02818.hp2 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0207 a0002c0002t0002g0208	2	242	0.0083	226	c.249 others(245): Show c.2495-2362_2495-2361insCTCAGCCCCCCGCCCGGCCAGCCGCC CCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCACCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43			chr3	TogoVar
FANCD2_chr3_10021437_10106932	10070509	G G	GCTCAGCC others(219): Show GCTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGTCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGC CGCCCAGTCCGGGAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00741.hp2 others(59): Show HG00408.hp1 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18948.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp1 NA18978.hp2 NA18985.hp1 NA19056.hp1 NA19080.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0011 a0002c0002 a0002c0012 others(3): Show a0001c0011 a0002c0002 a0002c0012 a0002c0020 a0006c0006 a0011c0021	a0001c0011t0002 a0002c0002t0002 a0002c0002t0005 others(8): Show a0001c0011t0002 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0012t0005 a0002c0020t0002 a0006c0006t0002 a0006c0006t0014 a0006c0006t0015 a0011c0021t0005	a0001c0011t0002g0199 a0002c0002t0002g0179 a0002c0002t0002g0183 others(59): Show a0001c0011t0002g0199 a0002c0002t0002g0179 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0005g0177 a0002c0002t0005g0181 a0002c0002t0005g0213 a0002c0002t0005g0215 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0005g0230 a0002c0002t0005g0231 a0002c0002t0006g0176 a0002c0002t0006g0197 a0002c0002t0006g0201 a0002c0002t0006g0202 a0002c0002t0006g0204 a0002c0002t0009g0180 a0002c0002t0009g0216 a0002c0012t0005g0193 a0002c0012t0005g0194 a0002c0020t0002g0227 a0006c0006t0002g0221 a0006c0006t0002g0223 a0006c0006t0014g0222 a0006c0006t0015g0220 a0011c0021t0005g0182	62	242	0.2562	226	c.249 others(245): Show c.2495-2362_2495-2361insCTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCACCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43			chr3	TogoVar

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