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
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(742): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTC CACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCT CTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0078 a0001c0007t0078	a0001c0007t0078g0132 a0001c0007t0078g0132	1	270	0.0037	749	c.162 others(770): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCT TCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCT CTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCT TCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTC CTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTN6_chr3_1088024_1409217	1245281	A A	ATATATAT others(742): Show ATATATATAATATATATATAACATATATAATATATATATAACATATATAT ATAATATATATAACATATATATATAATATATATATAACATATATATATTA TATATATATAACATATATATATAATATATATATAACATATATAATATATA TATAACATATATATAATATATATATAACATATATATAATATATATATAAC ATATATAATATATATATAACATATATATAATATATATATAACATATATAT AATATATATATAACATATATATATTATATATATAACATATATATATTATA TATAACATATATATATAATATATATATAACATATATATATTATATATATA ACATATATATTATATATATAACATATATATTATATATATAACATATATAT TATATATATAACATATATATTATATATATAACATATATATTATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATATATAATATATATAACATATATATATATAATATATATATAACAT ATATATATAATATATATATAACATATATATATAATATATATATAACATAT ATATATAATATATATATAACATATATATATAATATATATATAACATATAT ATATAATATATATATAACATATATATATAATATATATATAACATATATAT ATAATATATATATAACATATATATATAATATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	232	0.0043	749	c.358 others(768): Show c.358+17288_358+17289insTATATATAATATATATATAACATATA TAATATATATATAACATATATATATAATATATATAACATATATATATAAT ATATATATAACATATATATATTATATATATATAACATATATATATAATAT ATATATAACATATATAATATATATATAACATATATATAATATATATATAA CATATATATAATATATATATAACATATATAATATATATATAACATATATA TAATATATATATAACATATATATAATATATATATAACATATATATATTAT ATATATAACATATATATATTATATATAACATATATATATAATATATATAT AACATATATATATTATATATATAACATATATATTATATATATAACATATA TATTATATATATAACATATATATTATATATATAACATATATATTATATAT ATAACATATATATTATATATATAACATATATATATAATATATATATAACA TATATATATAATATATATATAACATATATATATAATATATATAACATATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TATAATATATATATAACATATATATATAATATATATATAACATATATATA TAATATATATATAACATATATATATAATATATATATAACATATATATATA ATATATATATAACATATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(742): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATA GGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACT GTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTT ACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTAC AGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTCACAG CGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTG TGGATGGGCCGTGGTTACAGTGCGTGGATTGGATGGGCCGTGGTTACAGT GCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0307 a0004c0012t0004g0307	1	372	0.0027	749	c.180 others(768): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGT TACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTA CAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACA GTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGT GTGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGG ATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGAT AGGCCGTGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGG GCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGC CGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATTGGATG GGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGG CCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
DPEP1_chr16_89608642_89643433	89619312	C C	CTGCTCCC others(742): Show CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC TCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC TCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	250	0.0040	749	c.-10 others(768): Show c.-107+5593_-107+5594insTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCC TCCCTGCAGCTCCCTGCCCCCCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(742): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA GGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGA GAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACA GACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACA GAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAG AGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAG ACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGA AAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGA GACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG01070.hp1 others(9): Show HG00544.hp2 HG00639.hp2 HG01070.hp1 HG01346.hp2 HG01981.hp2 HG02155.hp2 HG02698.hp1 HG03704.hp1 NA18951.hp1 NA18989.hp2 NA19012.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 a0001c0001t0001 a0001c0001t0002 a0001c0007t0002	a0001c0001t0001g0098 a0001c0001t0002g0081 a0001c0001t0002g0090 others(9): Show a0001c0001t0001g0098 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0007t0002g0097	12	198	0.0606	749	c.105 others(768): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGA GAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGA GAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGA GAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAG ACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGC AGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACA GAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGA GACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACA CACACACACACACACACAGACAG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EXD3_chr9_137301896_137428162	137355671	G G	GGAGAAAG others(742): Show GGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGAAAGGGAGGATGGAGGAAGGAGAAAGGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGAAAGGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGAGGAAG GAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGAAAG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAG GAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAG GAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0001 a0018c0014t0001	a0018c0014t0001g0072 a0018c0014t0001g0072	1	82	0.0122	749	c.757 others(764): Show c.757+596_757+597insTTCCTCCTTCCTCTTCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCT CCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCTTCCTCCTTTCTCCATCCTCCTTCCTCCTTCCTCCT TCCTCCATCCTCCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCC TTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCC ATCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC ATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCCTTTCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FLT3_chr13_27998274_28105576	27998959	A A	ATATATAT others(742): Show ATATATATTTATATACATATAAATATATATGTATATACATATAAATATAT GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATATATATATGTATATACATATAAATATATATGTATATACATATAT ATATGTATATACATATATATATATGTATATACATATAAATATATATGTAT ATACATATATATATATATGTATATACATATATATATATATGTATATACAT ATAAATATATATGTATATACATATAAATATATATGTATGTATATTATATA CATATAAATATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATTTATATACATATAAATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATTTACATACATATAAATATATATTTACA TACATATAAATATATACATTTATATACATATAAATATATACATATATACA TATAAATATATATTTATATACATATAAATATATATTTATATACATATAAA TATATATATTTATATATATTTATATATATATAAATATATATATATTTGTA TATATATATAAATATATATATATTTATATATATATAAATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	292	0.0034	749	c.50 others(760): Show c.5092_*5093insAATATATATATATTTATATATATATAAATATATA TATATTTATATATATATACAAATATATATATATTTATATATATATAAATA TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATTTATATGTATATATGTATATATTTATATGTATATAAATG TATATATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATATTTATATGTATATAATATACATACATATATATTTATATGTAT ATACATATATATTTATATGTATATACATATATATATATATGTATATACAT ATATATATATATGTATATACATATATATTTATATGTATATACATATATAT ATATGTATATACATATATATATGTATATACATATATATTTATATGTATAT ACATATATATATATGTATATACATATATATTTATATGTATATACATATAT ATTTATATGTATATACATATATTTATATGTATATACATATATATTTATAT GTATATAAATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4314		chr13	TogoVar
GTPBP6_chrX_299759_323796	322498	A A	AAAAAAAA others(742): Show AAAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGG TGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAG CCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTA CAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAA AAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACA AAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCT ACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02027.hp2 HG00140.hp2 HG02027.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0003 a0001c0001t0002 a0004c0006t0003	a0001c0001t0002g0064 a0004c0006t0003g0015 a0001c0001t0002g0064 a0004c0006t0003g0015	2	155	0.0129	749	c.-37 others(760): Show c.-3712_-3711insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGC TGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAG CAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCT TTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGC CCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGT CCCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTT TTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTG GTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCA GCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTT TTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3703		chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(742): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAA AAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACA AAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCT ACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	155	0.0065	749	c.-37 others(760): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGC TGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAG CAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCT TTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGC CCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGT CCCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTT TTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCT TTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(742): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAA AAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACA AAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCT ACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18999.hp1 NA18994.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0058 a0001c0001t0002g0063	2	155	0.0129	749	c.-37 others(760): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGC TGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAG CAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCT TTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTG CCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCG TCCCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTT TTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCT TTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(742): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAA AAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGC CTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAA AAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCT ACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	155	0.0065	749	c.-37 others(760): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATG CTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGA GCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTC TTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTG CCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCG TCCCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTT TTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCT TTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
GTPBP6_chrX_299759_323796	322517	G G	GAAAAGAA others(742): Show GAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTG CTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCA GCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAA AGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGAC GCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGC AATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAAG AAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCT CGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGC ATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAA AAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCT GCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCC AGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAA AAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGC TCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAG CATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	155	0.0065	749	c.-37 others(760): Show c.-3731_-3730insTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCT TACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCC CACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCC GGCTAATTTTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTA CCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCA CCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGG CTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTC TTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTC CCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACC AGGCTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTGTAGATAAT AGGGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCA ATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACCAC CACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTT ACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCC ACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCG GCTAATTTTTCTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3722		chrX	TogoVar
LMF1_chr16_848634_975984	858987	G G	GAGTGGTG others(742): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACG GGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC ACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGA TGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGG GTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0039 a0011c0039	a0011c0039t0001 a0011c0039t0001	a0011c0039t0001g0245 a0011c0039t0001g0245	1	294	0.0034	749	c.153 others(768): Show c.1530-4282_1530-4281insACACCCATCCCGTGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCA TCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATCC CGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCCTCC CGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858998	A A	ACGGGACG others(742): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGG TGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG CAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAG TGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGT GTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	294	0.0034	749	c.153 others(768): Show c.1530-4293_1530-4292insAGACACCACTCACACCCATCCCGTGA CACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACC ACTCACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACT CACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACA CCCGTCCCGTGACACCACTGCACACCCCTCCCGAGACACCACTGCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858998	A A	ACGGGACG others(742): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG CAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAG TGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGT GTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0011 a0003c0014t0001g0011	1	294	0.0034	749	c.153 others(768): Show c.1530-4293_1530-4292insAGACACCACTCACACCCATCCCGTGA CACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACC ACTCACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACT CACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGA GACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTGCACACCCCTCCCGAGACACCACTGCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACAACACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858998	A A	ACGGGACG others(742): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG CAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAG TGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	294	0.0034	749	c.153 others(768): Show c.1530-4293_1530-4292insAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCATCCCGTGACACC ACTCACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACT CACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTGCACACCCCTCCCGAGACACCACTGCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACAACACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858998	A A	ACGGGACG others(742): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG CAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAG TGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGT GTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02083.hp2 HG03831.hp1 HG01978.hp1 HG02083.hp2 HG03831.hp1	a0001 a0026 a0001 a0026	a0001c0002 a0001c0010 a0026c0032 a0001c0002 a0001c0010 a0026c0032	a0001c0002t0001 a0001c0010t0001 a0026c0032t0001 a0001c0002t0001 a0001c0010t0001 a0026c0032t0001	a0001c0002t0001g0026 a0001c0010t0001g0273 a0026c0032t0001g0015 a0001c0002t0001g0026 a0001c0010t0001g0273 a0026c0032t0001g0015	3	294	0.0102	749	c.153 others(768): Show c.1530-4293_1530-4292insAGACACCACTCACACCCATCCCGTGA CACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACC ACTCACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACT CACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTGCACACCCCTCCCGAGACACCACTGCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACAACACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCCCT others(742): Show CCTCCCCTCCCCTCCCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCT CCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCTCTCTCCT CCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTTCC CTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCT CTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTC CTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTC CTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	318	0.0031	749	c.-49 others(760): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGAAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGGGGAAGG GAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGA GAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAG GGGAGGGGAGGGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(742): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTTCCC CTCCCCTCCTCCCTCCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCT CCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCC CCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCC CTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCTCCACCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCCT CCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCCCTCCCCTCCCCTCC TCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTC CCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCT CCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTC CCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTC CCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTT CCTCTCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCT TCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCT CCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	278	0.0036	749	c.115 others(766): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCTT CCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCT CCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCC TCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCTCC TCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCC CCTCCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCCCTCCCCTCCCC TCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCC CCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCC CTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCC CTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCC CTTCCTCTCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCC CCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCA CCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCC TCCCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(742): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCTTCCCCTC CCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCC TCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCC TCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTC CCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTC CCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCC TCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTC CTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCC CTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCC TCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0114 a0002c0005t0001g0114	1	278	0.0036	749	c.115 others(766): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCTTCCC CTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTC CCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTC CCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCC TTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCC CTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTC CCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCC CTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCT CCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTT CCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCC CACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(742): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTCC ACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCTCCCCC TTCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACCC TCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTCCCC TCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCTCCCTTCCCCTCCC CTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCC CTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTT CCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCT CCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCC CTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCTC CTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCC CTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCC TCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0005 a0002c0013t0005	a0002c0013t0005g0081 a0002c0013t0005g0081	1	278	0.0036	749	c.115 others(766): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCTCCCCTCCCCCTTCCCCTCCCCTTCCC TCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCTCC CCCTTCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCTCCCTTCCCCT CCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTT CCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCC CTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCC CCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTT CCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCC CTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCT CCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTT CCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCC CACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(742): Show GCCCTCCCGTCCCGTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCC TTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTCCTCCCTCCCCTCCC CTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCC CCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCT CCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCTCCACCCTCCCCTCCACCCTCCCCTCCCCTCCCCT CCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCCCTCCCCTCCCCTCC TCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTC CCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCT CCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTC CCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTC CCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTT CCTCTCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCT TCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCT CCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0093 a0002c0010t0001g0093	1	278	0.0036	749	c.115 others(766): Show c.1157+145_1157+146insGTCCCGTCCCCCCTCCCCTCCCCTCCCT TCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTC CTCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCT CCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTC CCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCACCCTC CCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCC CTCCCCTCCCCTCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCC CTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCC TCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCC CCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTC CCTCCCCCTCCCTTCCTCTCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCC CTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCC TTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTC CTCCTCTCCCCTCCCCCTCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(742): Show GCCCTCCCGTCCCGTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCC TTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTCCTCCCTCCCCTCCC CTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCC CCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCT CCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCACCCTCCCCTCCCCT CCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCCCTCCCCTCCCCTCC TCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTC CCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCT CCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTC CCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTC CCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTT CCTCTCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCT TCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCT CCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	278	0.0036	749	c.115 others(766): Show c.1157+145_1157+146insGTCCCGTCCCCCCTCCCCTCCCCTCCCT TCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTC CTCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCT CCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTC CCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCA CCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCC CTCCCCTCCCCTCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCC CTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCC TCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCC CCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTC CCTCCCCCTCCCTTCCTCTCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCC CTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCC TTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTC CTCCTCTCCCCTCCCCCTCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(742): Show CCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 NA18962.hp2 HG02717.hp2 HG02886.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	3	394	0.0076	749	c.-8+ others(762): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(742): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCA CTAGGATGGAGTGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGA AGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCAC TAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGG AGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGTGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03834.hp1 NA18973.hp1 HG00597.hp1 HG03834.hp1 NA18973.hp1	a0003 a0003	a0003c0002 a0003c0097 a0003c0098 a0003c0002 a0003c0097 a0003c0098	a0003c0002t0001 a0003c0097t0001 a0003c0098t0001 a0003c0002t0001 a0003c0097t0001 a0003c0098t0001	a0003c0002t0001g0128 a0003c0097t0001g0122 a0003c0098t0001g0172 a0003c0002t0001g0128 a0003c0097t0001g0122 a0003c0098t0001g0172	3	249	0.0121	749	c.148 others(768): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG TGCTGGACACCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCT TCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG CGCTGGAAGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCT TCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG CGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGC GCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CAAGCCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCC ATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCG CTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CCAGCCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(742): Show CCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02717.hp2 HG02886.hp1 others(1): Show HG02602.hp1 HG02717.hp2 HG02886.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0079 a0001c0001t0002g0098 a0001c0001t0002g0001 a0001c0001t0002g0079 a0001c0001t0002g0098	4	376	0.0106	749	c.15 others(760): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTG AGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGG GGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGG GGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCG GGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PLPP2_chr19_276043_296403	291613	G G	GGGGGGAC others(742): Show GGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGGG AGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGCG GCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAG GGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGCGGCGGG CAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAG GAGGGGGGGAGGGGAGGGGAGGAGGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCGGGGCGGGGAGGGGAGGGCAGCAGGGGAGAGGGGAGGAGG GGAGGGGCGGGGAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGAGG GGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGG GAGGGAGGGGGAGGGGAGGAGGGGGGGAGGGGAGGAAGGGGGGGACGGCA GCGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGG GGCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAG AGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	354	0.0028	749	c.-27 others(758): Show c.-278_-277insTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCT CCCCTGCCCGCCGCTGCCGTCCCCCCCTTCCTCCCCTCCCCCCCTCCTCC CCTCCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCG CCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCC CTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCG CCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCCTCCCCT CCCCTCCCCCCCTCCTCCCCTCCCCCTCCCTCCCCTCCTCCCCGCCCCGC CCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTTCCTCCCCTCCCCT CCCCCCCTCCTCCCCTCCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCT GCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTTCCTCCCCTCCCCTCCTCC CCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCTC TCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCC GCTGCCGTCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		211		chr19	TogoVar
PTTG1IP_chr21_44844598_44878690	44863310	G G	GACACAGC others(742): Show GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCC ACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCC ACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCC ACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCC ACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCC ACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0093 a0001c0001t0008g0093	1	444	0.0023	749	c.169 others(766): Show c.169-2040_169-2039insTCTGCTGCTGAGGCCGTGGTGGGCTGTG TCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTG GTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGC TGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTG TCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTG GTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGC TGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTG TCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTG GTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGC TGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTG TCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTG GTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGC TGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTG TCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTG GTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGC TGAGGCCGTGGTGGGCTGTGT	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5			chr21	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(742): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0112 a0002c0016t0001g0112	1	330	0.0030	749	c.-50 others(760): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803280	G G	GCCGGGGG others(742): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	330	0.0030	749	c.-49 others(760): Show c.-4917_-4916insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4667		chr9	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(742): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	308	0.0033	749	c.-75 others(768): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGTA TTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATA TATAAATATATATTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTT ATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RWDD2B_chr21_28999384_29024349	29010490	G G	GTCCCAGC others(742): Show GTCCCAGCTACTTGAGAGGCTCAGGTGGGAGGACTGCTTGAGCCCAGAAG GTGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTG ACAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAACCTAAACC ATAGTTCCTTTTATCAATCTCTTCTTTTACAGGTTTCAAGCTTTATTTGT TTGTTTGTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTGCCCAGGATGGA GTGCAGTGGTGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGACTCAA ACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCCAC CACCACCCCCAGCTAATTTTTATATTTTTATTTTATTATTTGTTTATTTA TTTATTTTGGGATGCAGTTATCGCTCTTGTTGCCTAGGCTGGAGCTCAGT GTCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTCCAAGCAATTC TCCTGCCTCAGCCTCCCAAGGGGAGAGATTACAGGCACATGCCACCATGC CTGGCCAATTTTTTTGTGTTTTTGTATCACCTCAGGTGATCTGCCTGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCCAGCCT AAAATATCTTGATTAGAAAGGATTTCTCTACTGCAAGATTATTTTAAAAT TCTTCTATTTTTTACAAAAATTAGCTGGGTGAGGTGGTGGGCACCTGTAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02257.hp2 others(9): Show HG01891.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02630.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0045 a0001c0001t0005g0210 others(3): Show a0001c0001t0005g0010 a0001c0001t0005g0045 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0213	12	438	0.0274	749	c.68- others(764): Show c.68-1870_68-1869insTTACAGGTGCCCACCACCTCACCCAGCTAA TTTTTGTAAAAAATAGAAGAATTTTAAAATAATCTTGCAGTAGAGAAATC CTTTCTAATCAAGATATTTTAGGCTGGGCACAGTGGCTTACGCCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTGATACAAA AACACAAAAAAATTGGCCAGGCATGGTGGCATGTGCCTGTAATCTCTCCC CTTGGGAGGCTGAGGCAGGAGAATTGCTTGGACCCGGGAGGCAGAGGTTG CAGTGAGCTGAGATCACGACACTGAGCTCCAGCCTAGGCAACAAGAGCGA TAACTGCATCCCAAAATAAATAAATAAACAAATAATAAAATAAAAATATA AAAATTAGCTGGGGGTGGTGGTGGGTGCCTGTAATCTCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGTTTGAGTCCGGGAGGTGGAGGTTGCAGTGAG CTAAGATCGCACCACTGCACTCCATCCTGGGCACAAAGCAAGACTCCGTC TCAAAAAAACAAACAAACAAACAAATAAAGCTTGAAACCTGTAAAAGAAG AGATTGATAAAAGGAACTATGGTTTAGGTTGTTTGTTTGTTTGTTTGTTT GAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCT TGGCTCACTACAACCTCCACCTTCTGGGCTCAAGCAGTCCTCCCACCTGA GCCTCTCAAGTAGCTGGGA	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29010490	G G	GTCCCAGC others(742): Show GTCCCAGCTACTTGAGAGGCTCAGGTGGGAGGACTGCTTGAGCCCAGAAG GTGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTG ACAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAACCTAAACC ATAGTTCCTTTTATCAATCTCTTCTTTTACAGGTTTCAAGCTTTATTTGT TTGTTTGTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTGCCCAGGATGGA GTGCAGTGGTGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGACTCAA ACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCCAC CACCACCCCCAGCTAATTTTTATATTTTTATTTTATTATTTGTTTATTTA TTTATTTTGGGATGCAGTTATCGCTCTTGTTGCCTAGGCTGGAGCTCAGT GTCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTCCAAGCAATTC TCCTGCCTCAGCCTCCCAAGGGGAGAGATTACAGGCACATGCCACCATGC CTGGCCAATTTTTTTGTGTTTTTGTATCACCTCAGGTGATCTGCCTGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCT AAAATAACTTGATTAGAAAGGATTTCTCTACTGCAAGATTATTTTAAAAT TCTTCTATTTTTTACAAAAATTAGCTGGGTGAGGTGGTGGGCACCTGTAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(136): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA19006.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19072.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0001c0003 a0003c0008 others(2): Show a0001c0001 a0001c0003 a0003c0008 a0005c0007 a0007c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0003t0001 a0003c0008t0020 a0005c0007t0002 a0007c0004t0002	a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0037 others(86): Show a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0253 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0097 a0001c0001t0009g0109 a0001c0001t0013g0003 a0001c0001t0013g0006 a0001c0001t0018g0168 a0001c0001t0021g0252 a0001c0001t0022g0095 a0001c0001t0023g0129 a0001c0003t0001g0162 a0001c0003t0001g0163 a0003c0008t0020g0169 a0005c0007t0002g0098 a0007c0004t0002g0121	139	438	0.3174	749	c.68- others(764): Show c.68-1870_68-1869insTTACAGGTGCCCACCACCTCACCCAGCTAA TTTTTGTAAAAAATAGAAGAATTTTAAAATAATCTTGCAGTAGAGAAATC CTTTCTAATCAAGTTATTTTAGGCTGGGCACAGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTGATACAAA AACACAAAAAAATTGGCCAGGCATGGTGGCATGTGCCTGTAATCTCTCCC CTTGGGAGGCTGAGGCAGGAGAATTGCTTGGACCCGGGAGGCAGAGGTTG CAGTGAGCTGAGATCACGACACTGAGCTCCAGCCTAGGCAACAAGAGCGA TAACTGCATCCCAAAATAAATAAATAAACAAATAATAAAATAAAAATATA AAAATTAGCTGGGGGTGGTGGTGGGTGCCTGTAATCTCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGTTTGAGTCCGGGAGGTGGAGGTTGCAGTGAG CTAAGATCGCACCACTGCACTCCATCCTGGGCACAAAGCAAGACTCCGTC TCAAAAAAACAAACAAACAAACAAATAAAGCTTGAAACCTGTAAAAGAAG AGATTGATAAAAGGAACTATGGTTTAGGTTGTTTGTTTGTTTGTTTGTTT GAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCT TGGCTCACTACAACCTCCACCTTCTGGGCTCAAGCAGTCCTCCCACCTGA GCCTCTCAAGTAGCTGGGA	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29010490	G G	GTCCCAGC others(742): Show GTCCCAGCTACTTGAGAGGCTCAGGTGGGAGGACTGCTTGAGCCCAGAAG GTGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTG ACAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAACCTAAACC ATAGTTCCTTTTATCAATCTCTTCTTTTACAGGTTTCAAGCTTTATTTGT TTGTTTGTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTGCCCAGGATGGA GTGCAGTGGTGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGACTCAA ACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCCAC CACCACCCCCAGCTAATTTTTATATTTTTATTTTATTATTTGTTTATTTA TTTATTTTGGGATGCAGTTATCGCTCTTGTTGCCTAGGCTGGAGCTCAGT GTCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTCCAAGCAATTC TCCTGCCTCAGCCTCCCAAGGGGAGAGATTACAGGCACATGCCACCATGC CTGGCCAATTTTTTTGTGTTTTTGTATCACCTCAGGTGATCTGCCTGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCT AAAATATCTTGATTAGAAAGGATTTCTCTACTGCAAGATTATTTTAAAAT TCTTCTATTTTTTACAAAAATTAGCTGGGTGAGGTGGTGGGCACCTGTAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp2 others(81): Show HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00733.hp2 HG01070.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18954.hp2 NA18966.hp1 NA18970.hp2 NA18981.hp2 NA18982.hp1 NA18987.hp1 NA18995.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 others(4): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0004c0006t0003	a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0016 others(45): Show a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0209 a0001c0001t0003g0243 a0001c0001t0007g0017 a0001c0001t0007g0050 a0001c0001t0007g0244 a0001c0001t0007g0246 a0001c0001t0007g0248 a0001c0001t0012g0173 a0001c0001t0012g0174 a0001c0001t0016g0245 a0001c0001t0019g0247 a0001c0001t0024g0082 a0004c0006t0003g0189	84	438	0.1918	749	c.68- others(764): Show c.68-1870_68-1869insTTACAGGTGCCCACCACCTCACCCAGCTAA TTTTTGTAAAAAATAGAAGAATTTTAAAATAATCTTGCAGTAGAGAAATC CTTTCTAATCAAGATATTTTAGGCTGGGCACAGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTGATACAAA AACACAAAAAAATTGGCCAGGCATGGTGGCATGTGCCTGTAATCTCTCCC CTTGGGAGGCTGAGGCAGGAGAATTGCTTGGACCCGGGAGGCAGAGGTTG CAGTGAGCTGAGATCACGACACTGAGCTCCAGCCTAGGCAACAAGAGCGA TAACTGCATCCCAAAATAAATAAATAAACAAATAATAAAATAAAAATATA AAAATTAGCTGGGGGTGGTGGTGGGTGCCTGTAATCTCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGTTTGAGTCCGGGAGGTGGAGGTTGCAGTGAG CTAAGATCGCACCACTGCACTCCATCCTGGGCACAAAGCAAGACTCCGTC TCAAAAAAACAAACAAACAAACAAATAAAGCTTGAAACCTGTAAAAGAAG AGATTGATAAAAGGAACTATGGTTTAGGTTGTTTGTTTGTTTGTTTGTTT GAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCT TGGCTCACTACAACCTCCACCTTCTGGGCTCAAGCAGTCCTCCCACCTGA GCCTCTCAAGTAGCTGGGA	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29010490	G G	GTCCCAGC others(742): Show GTCCCAGCTACTTGAGAGGCTCAGGTGGGAGGACTGCTTGAGCCCAGAAG GTGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTG ACAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAACCTAAACC ATAGTTCCTTTTATCAATCTCTTCTTTTACAGGTTTCAAGCTTTATTTGT TTGTTTGTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTGCCCAGGATGGA GTGCAGTGGTGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGACTCAA ACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCCAC CACCACCCCCAGCTAATTTTTATATTTTTATTTTATTATTTGTTTATTTA TTTATTTTGGGATGCAGTTATCGCTCTTGTTGCCTAGGCTGGAGCTCAGT GTCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTCCAAGCAATTC TCCTGCCTCAGCCTCCCAAGGGGAGAGATTACAGGCACATGCCACCATGC CTGGCCAATTTTTTTGTGTTTTTGTATCACCTCAGGTGATCTGCCTGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCT AAAATATCTTGATTAGAAAGGATTTCTCTACTGCAGGATTATTTTAAAAT TCTTCTATTTTTTACAAAAATTAGCTGGGTGAGGTGGTGGGCACCTGTAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp2 others(76): Show HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02630.hp2 HG03130.hp2 HG03834.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18950.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0002c0002t0003	a0001c0001t0003g0171 a0001c0001t0003g0203 a0001c0001t0004g0001 others(40): Show a0001c0001t0003g0171 a0001c0001t0003g0203 a0001c0001t0004g0001 a0001c0001t0004g0012 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0015g0230 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0202 a0002c0002t0003g0204 a0002c0002t0003g0206 a0002c0002t0003g0207 a0002c0002t0003g0208	79	438	0.1804	749	c.68- others(764): Show c.68-1870_68-1869insTTACAGGTGCCCACCACCTCACCCAGCTAA TTTTTGTAAAAAATAGAAGAATTTTAAAATAATCCTGCAGTAGAGAAATC CTTTCTAATCAAGATATTTTAGGCTGGGCACAGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTGATACAAA AACACAAAAAAATTGGCCAGGCATGGTGGCATGTGCCTGTAATCTCTCCC CTTGGGAGGCTGAGGCAGGAGAATTGCTTGGACCCGGGAGGCAGAGGTTG CAGTGAGCTGAGATCACGACACTGAGCTCCAGCCTAGGCAACAAGAGCGA TAACTGCATCCCAAAATAAATAAATAAACAAATAATAAAATAAAAATATA AAAATTAGCTGGGGGTGGTGGTGGGTGCCTGTAATCTCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGTTTGAGTCCGGGAGGTGGAGGTTGCAGTGAG CTAAGATCGCACCACTGCACTCCATCCTGGGCACAAAGCAAGACTCCGTC TCAAAAAAACAAACAAACAAACAAATAAAGCTTGAAACCTGTAAAAGAAG AGATTGATAAAAGGAACTATGGTTTAGGTTGTTTGTTTGTTTGTTTGTTT GAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCT TGGCTCACTACAACCTCCACCTTCTGGGCTCAAGCAGTCCTCCCACCTGA GCCTCTCAAGTAGCTGGGA	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29010490	G G	GTCCCAGC others(742): Show GTCCCAGCTACTTGAGAGGCTCAGGTGGGAGGACTGCTTGAGCCCAGAAG GTGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTG ACAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAACCTAAACC ATAGTTCCTTTTATCAATCTCTTCTTTTACAGGTTTCAAGCTTTATTTGT TTGTTTGTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTGCCCAGGATGGA GTGCAGTGGTGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGACTCAA ACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCCAC CACCACCCCCAGCTAATTTTTATATTTTTATTTTATTATTTGTTTATTTA TTTATTTTGGGATGCAGTTATCGCTCTTGTTGCCTAGGCTGGAGCTCAGT GTCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTCCAAGCAATTC TCCTGCCTCAGCCTCCCAAGGGGAGAGATTACCGGCACATGCCACCATGC CTGGCCAATTTTTTTGTGTTTTTGTATCACCTCAGGTGATCTGCCTGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCT AAAATAACTTGATTAGAAAGGATTTCTCTACTGCAAGATTATTTTAAAAT TCTTCTATTTTTTACAAAAATTAGCTGGGTGAGGTGGTGGGCACCTGTAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp1 HG03209.hp1 HG01891.hp2 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0051 a0001c0001t0011g0249 a0001c0001t0011g0051 a0001c0001t0011g0249	3	438	0.0069	749	c.68- others(764): Show c.68-1870_68-1869insTTACAGGTGCCCACCACCTCACCCAGCTAA TTTTTGTAAAAAATAGAAGAATTTTAAAATAATCTTGCAGTAGAGAAATC CTTTCTAATCAAGTTATTTTAGGCTGGGCACAGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTGATACAAA AACACAAAAAAATTGGCCAGGCATGGTGGCATGTGCCGGTAATCTCTCCC CTTGGGAGGCTGAGGCAGGAGAATTGCTTGGACCCGGGAGGCAGAGGTTG CAGTGAGCTGAGATCACGACACTGAGCTCCAGCCTAGGCAACAAGAGCGA TAACTGCATCCCAAAATAAATAAATAAACAAATAATAAAATAAAAATATA AAAATTAGCTGGGGGTGGTGGTGGGTGCCTGTAATCTCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGTTTGAGTCCGGGAGGTGGAGGTTGCAGTGAG CTAAGATCGCACCACTGCACTCCATCCTGGGCACAAAGCAAGACTCCGTC TCAAAAAAACAAACAAACAAACAAATAAAGCTTGAAACCTGTAAAAGAAG AGATTGATAAAAGGAACTATGGTTTAGGTTGTTTGTTTGTTTGTTTGTTT GAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCT TGGCTCACTACAACCTCCACCTTCTGGGCTCAAGCAGTCCTCCCACCTGA GCCTCTCAAGTAGCTGGGA	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29010490	G G	GTCCCAGC others(742): Show GTCCCAGCTACTTGAGAGGCTCAGGTGGGAGGACTGCTTGAGCCCAGAAG GTGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTG ACAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAACCTAAACC ATAGTTCCTTTTATCAATCTCTTCTTTTACAGGTTTCAAGCTTTATTTGT TTGTTTGTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTGCCCAGGATGGA GTGCAGTGGTGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGACTCAA ACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCCAC CACCACCCCCAGCTAATTTTTATATTTTTATTTTATTATTTGTTTATTTA TTTATTTTGGGATGCAGTTATCGCTCTTGTTGCCTAGGCTGGAGCTCAGT GTCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCAAGCAATTC TCCTGCCTCAGCCTCCCAAGGGGAGAGATTACAGGCACATGCCACCATGC CTGGCCAATTTTTTTGTGTTTTTGTATCACCTCAGGTGATCTGCCTGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCT AAAATAACTTGATTAGAAAGGATTTCTCTACTGCAAGATTATTTTAAAAT TCTTCTATTTTTTACAAAAATTAGCTGGGTGAGGTGGTGGGCACCTGTAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(61): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp1 HG02148.hp1 HG02293.hp2 HG02602.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18951.hp2 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18977.hp2 NA18986.hp1 NA18991.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19006.hp2 NA19058.hp2 NA19060.hp2 NA19079.hp1 NA19083.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(37): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0074 a0001c0001t0006g0077 a0001c0001t0006g0078 a0001c0001t0006g0090 a0001c0001t0014g0081 a0001c0001t0025g0084 a0001c0001t0026g0057	64	438	0.1461	749	c.68- others(764): Show c.68-1870_68-1869insTTACAGGTGCCCACCACCTCACCCAGCTAA TTTTTGTAAAAAATAGAAGAATTTTAAAATAATCTTGCAGTAGAGAAATC CTTTCTAATCAAGTTATTTTAGGCTGGGCACAGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTGATACAAA AACACAAAAAAATTGGCCAGGCATGGTGGCATGTGCCTGTAATCTCTCCC CTTGGGAGGCTGAGGCAGGAGAATTGCTTGGACCCAGGAGGCAGAGGTTG CAGTGAGCTGAGATCACGACACTGAGCTCCAGCCTAGGCAACAAGAGCGA TAACTGCATCCCAAAATAAATAAATAAACAAATAATAAAATAAAAATATA AAAATTAGCTGGGGGTGGTGGTGGGTGCCTGTAATCTCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGTTTGAGTCCGGGAGGTGGAGGTTGCAGTGAG CTAAGATCGCACCACTGCACTCCATCCTGGGCACAAAGCAAGACTCCGTC TCAAAAAAACAAACAAACAAACAAATAAAGCTTGAAACCTGTAAAAGAAG AGATTGATAAAAGGAACTATGGTTTAGGTTGTTTGTTTGTTTGTTTGTTT GAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCT TGGCTCACTACAACCTCCACCTTCTGGGCTCAAGCAGTCCTCCCACCTGA GCCTCTCAAGTAGCTGGGA	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
SDK1_chr7_3296252_4274000	4264064	G G	GGGGAGGC others(742): Show GGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGGAGGCCGCGTAGACCTCT CCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAG ACCTCTCCTGAGTGGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGC CGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGG GGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGATCTCTCCT GAGTGAGGGAGGCCGCGTAGATCTCTCCTGAGTGAGGAGGCCGTGTGGAT CTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGGGGTAAGGAACGC CGCGTGGACCTCTCCTGGGGTAAGGAAGGCCGCGTGGACCTCTCCTGAGT GAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTC TCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCG TGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGG AGGCCGCGTGGACCTCTCCTGAGTGGGGAGGCCGCGTGGACCTCTCCTGA GTGAGGGAAGCCGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGTGTAGAC CTCTCCTGAGTGAGGGAGGCTGCGTAGATCTCTCCTGAGTGGGGAGGCGG TGTGGACCTCTCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0005 a0005	a0005c0057 a0005c0057	a0005c0057t0006 a0005c0057t0006	a0005c0057t0006g0098 a0005c0057t0006g0098	1	116	0.0086	749	c.638 others(766): Show c.6382-975_6382-974insGGGAGGCCGCGTAGACCTCTCCTGAGTG GGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTC CTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGA CCTCTCCTGAGTGGGGAGGCCGCGTAGATCTCTCCTGAGTGAGGGAGGCC GCGTAGATCTCTCCTGAGTGAGGAGGCCGTGTGGATCTCTCCTGAGTGAG GGAGGCCGCGTGGACCTCTCCTGGGGTAAGGAACGCCGCGTGGACCTCTC CTGGGGTAAGGAAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGT GGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGA GGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGA GTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACC TCTCCTGAGTGGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAAGCCGT GTGGACCTCTCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAG GGAGGCTGCGTAGATCTCTCCTGAGTGGGGAGGCGGTGTGGACCTCTCCT GGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGGGAGGCCGCGTAG ACCTCTCCTGAGTGGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGC CGCGTAGACCTCTCCTGAGTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUFU_chr10_102498972_102638535	102637266	A A	AATATATA others(742): Show AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATATACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATAATATATA ATATATATTATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATTATATATATTATATATTATATAACTATATATTATA TATATATTATATATTATATAACTATATATTATATATATATTATATATTAT ATAACTATATATTATATATATATATTATATATTATATAACTATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	268	0.0037	749	c.71 others(760): Show c.7111_*7112insATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATATACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATATTATATATTATATAAC TATATATAATATATAATATATATTATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATTATATATATTATATATTATA TAACTATATATTATATATATATTATATATTATATAACTATATATTATATA TATATTATATATTATATAACTATATATTATATATATATATTATATATTAT ATAACTATATATTAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3732		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637266	A A	AATATATA others(742): Show AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATATACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATATATTATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATTATATATATTATATATTATATAACTATATATTATA TATATATTATATATTATATAACTATATATTATATATATATTATATATTAT ATAACTATATATTATATATATATATTATATATTATATAACTATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02965.hp2 HG02572.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0098 a0001c0002t0002g0101	2	268	0.0075	749	c.71 others(760): Show c.7111_*7112insATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATATACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATATTATATATTATATAAC TATATATTATATATAATATATATTATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATTATATATATTATATATTATA TAACTATATATTATATATATATTATATATTATATAACTATATATTATATA TATATTATATATTATATAACTATATATTATATATATATATTATATATTAT ATAACTATATATTAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3732		chr10	TogoVar
TCF3_chr19_1604292_1657615	1628327	A A	ATGAGGCG others(742): Show ATGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGATGAGGCGGGAAG GGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCAC GGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGGATGAGGCGGGAAGGGGACAGCAGAACTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGC TCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGA GCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGGGCGGGAAGGGGACAGC AGAACTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTG AGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACA GTAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0183 a0001c0005t0001g0183	1	352	0.0028	749	c.299 others(764): Show c.299-902_299-901insCCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCATCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCT CTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCG CCTCACCCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCCACCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCATCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGT GAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCT TCCCGCCTCATCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGT CCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCAC CCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTACT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGTTCTG CTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGTGGGA others(742): Show AGGTGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG TGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGAC AGCAGAGCTCACAGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGGAA GCGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCT CATGGGGATGGGGAGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGT GGGAAGGGGACAGCAGAGCTCACAGGGGTGGGGCGGGAAGGGGACAGCAG AGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGG GCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCACGGGTGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0099 a0001c0004t0003g0099	1	352	0.0028	749	c.299 others(766): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCTG TGAGCTCTGCTGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCC CTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTC CCCTTCCCTCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCTCATC CCCTGTGAGCTCTGCTGTCCGCTTCCCACCTCACCCCCGTGAGCTCTGCT GTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTG CTGTCCCCTTCCCACCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGC CCCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAG TTCTGCTGTCCCCTTCCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM242_chr6_157284025_157328519	157311591	C C	CTCACCTA others(742): Show CTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCAGCTAGCCTCATC ATAGAGTCCCAGTGCGCACTCAACCTAGCCTCATCATAGTATCCCAGGGT GCGCTCATCCAGCCTCATCATAGTGTCGCAGTGTGCACTCACCTAACCTC ATCATAGTGTCCCAGTGTGCAATCACCTAGCCTCATCATAGTGCCGTAGT GTGCGCTCACCTGGCCTCAACATATTGTTCCAGTGTGCGGTCACCTAGCC TCATCATAGTGTGCCAGTGTGCGCTCACCTGGACTCATCATAGTACCGCA GTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTCTGCCCACCGAG CATCATCATAGTGCCCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCC CACTATGCCCTCACCCGGCCTCATGATAGTGTCCCAGTGTGCACTCACCT GGCCTGATCATAGTGTCCCAGTGTGCATTGACCTAGCCTCATCATAGTGC CCCAGTGTGCACTCACCTAGGCTCATCATAGTGTCCCAGTGTGCGCTCAC CTAGCCTCATCATAGTGTACCAGTGTGCCCTCAGCCGGCCTCATCAAGGT GTCCCAGTGTGCGCTCACCCGGCCTCATAACAGTGACCCAGTGTGCGCTC ATCTGACCTCGTCATAGTGTCCCAGTGTGCATTCACCTGGCCTCATCATA GTGTCCCACTGTGCACTCACCTGCCCTCATCATAGTGTCCCAGTGTGCGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	344	0.0029	749	c.327 others(766): Show c.327+7190_327+7191insTCGCACACTGGGACACTATGATGAGGGC AGGTGAGTGCACAGTGGGACACTATGATGAGGCCAGGTGAATGCACACTG GGACACTATGACGAGGTCAGATGAGCGCACACTGGGTCACTGTTATGAGG CCGGGTGAGCGCACACTGGGACACCTTGATGAGGCCGGCTGAGGGCACAC TGGTACACTATGATGAGGCTAGGTGAGCGCACACTGGGACACTATGATGA GCCTAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTCAATGCAC ACTGGGACACTATGATCAGGCCAGGTGAGTGCACACTGGGACACTATCAT GAGGCCGGGTGAGGGCATAGTGGGGCACTATGATGAGGCCGGGTGAGCGC ACACTGGGGCACTATGATGATGCTCGGTGGGCAGACACTGGGACACTATG ATGAGGCCAGGTGAGTGCACACTGCGGTACTATGATGAGTCCAGGTGAGC GCACACTGGCACACTATGATGAGGCTAGGTGACCGCACACTGGAACAATA TGTTGAGGCCAGGTGAGCGCACACTACGGCACTATGATGAGGCTAGGTGA TTGCACACTGGGACACTATGATGAGGTTAGGTGAGTGCACACTGCGACAC TATGATGAGGCTGGATGAGCGCACCCTGGGATACTATGATGAGGCTAGGT TGAGTGCGCACTGGGACTCTATGATGAGGCTAGCTGAGTGCACACTGGGA CACTATGATGAGGCTAGGTGA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(742): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACCACC ACACACACCACACACACAACACCACACACCACACACACACCACCACACAC CACCACACACCACACACACCACCACACACACACCACCACACACACACCAC ACACCACACACACATACACCACACACACATACACCACCACACACCACCAC ACACACCACACACACAACACACACCACCACACACCACACACACCACCACA CACACCACCACACACACACCACACACCATACACACACTACCACACACCAC CACACACCACCACACACACACCACACACACAGCACCACACACACACCACC ACACACAACACACACCACACACACCACCACACACATACCACCACACACAC CACCACACACATACACACCACACCACCACCACATACATACACACCACACA CCACCACACACATACACACCACACACCACCACACACATACACACCACACA CACTACCACCGCATACATACACACCACACACGCCACCACATACATACCAC ACACACATACACACCACCCACACACCACCACACACACCACCACCACACAC ATACACACCACACACACCACCACACACACACCACCACATACATACACACC ACACACATACCACCACACACACACCATCACGCACACCACCACATACACAC ACCACAGACATACCACCACACACATACCATCACACACCACTACGCACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG03139.hp1 others(4): Show HG01884.hp2 HG02922.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 NA19030.hp2 NA19240.hp2	a0006 a0008 a0050 a0006 a0008 a0050	a0006c0012 a0008c0062 a0008c0082 others(1): Show a0006c0012 a0008c0062 a0008c0082 a0050c0073	a0006c0012t0016 a0006c0012t0024 a0008c0062t0016 others(2): Show a0006c0012t0016 a0006c0012t0024 a0008c0062t0016 a0008c0082t0038 a0050c0073t0037	a0006c0012t0016g0023 a0006c0012t0016g0163 a0006c0012t0024g0014 others(4): Show a0006c0012t0016g0023 a0006c0012t0016g0163 a0006c0012t0024g0014 a0006c0012t0024g0020 a0008c0062t0016g0091 a0008c0082t0038g0210 a0050c0073t0037g0049	7	244	0.0287	749	c.537 others(766): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGT GTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTG TGGTGGTGTGTGTGGTGTGTATGTGTGTGGTGGTGGTGTGTGTGGTGGTG TGTGGGTGGTGTGTATGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGT GTGTATGTATGCGGTGGTAGTGTGTGTGGTGTGTATGTGTGTGGTGGTGT GTGGTGTGTATGTGTGTGGTGGTGTGTGGTGTGTATGTATGTGGTGGTGG TGTGGTGTGTATGTGTGTGGTGGTGTGTGTGGTGGTATGTGTGTGGTGGT GTGTGTGGTGTGTGTTGTGTGTGGTGGTGTGTGTGTGGTGCTGTGTGTGT GGTGTGTGTGTGGTGGTGTGTGGTGGTGTGTGGTAGTGTGTGTATGGTGT GTGGTGTGTGTGTGGTGGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGT GTGTGTTGTGTGTGTGGTGTGTGTGGTGGTGTGTGGTGGTGTATGTGTGT GTGGTGTATGTGTGTGTGGTGTGTGGTGTGTGTGTGGTGGTGTGTGTGTG GTGGTGTGTGTGGTGTGTGGTGGTGTGTGGTGGTGTGTGTGTGGTGTGTG GTGTTGTGTGTGTGGTGTGTGTGGTGGTGTGTGTGGTGGTGTGTGTGTGG TGGTGTGTGTGGTGTGTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TRIM54_chr2_27277429_27312435	27304386	A A	ACCAGCCT others(742): Show ACCAGCCTGGGCGACAGAGCGAGACCTCCATGTCTAAAAAAAAATTTTTT TTTTTTAGAGATGGAGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGT AGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTGTC CTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACCACGCC CAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCC AGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCTTCCGCCTCCCA AAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCGGACTAAAACAATGT TTTTGTTTTAATTAGTTGGGAGTGGTGGCATGTGCCTGTAATCCCAGCTA CTAGGGAGGCTGAAGCAGGAGGATCACCTGAGTGCAGGAGTTTGAGGATC CAGTGAACAATGATCATACCACTGCACTCCAGCCTGAGTGACAGAGTGAG ACTGTCTCTTAAAAAAAAAAATTGGCCCCATGCAGTGGCTTGTGTCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAAGACCA TCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTA GCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGAGAATGGCA TGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03669.hp2 NA18966.hp2 others(1): Show HG01069.hp1 HG03669.hp2 NA18966.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0151 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0194	4	276	0.0145	749	c.514 others(764): Show c.514-563_514-562insCGACAGAGCGAGACCTCCATGTCTAAAAAA AAATTTTTTTTTTTTAGAGATGGAGGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGTAGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCAC GCCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCAC CACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACC GTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCTTC CGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCGGACTA AAACAATGTTTTTGTTTTAATTAGTTGGGAGTGGTGGCATGTGCCTGTAA TCCCAGCTACTAGGGAGGCTGAAGCAGGAGGATCACCTGAGTGCAGGAGT TTGAGGATCCAGTGAACAATGATCATACCACTGCACTCCAGCCTGAGTGA CAGAGTGAGACTGTCTCTTAAAAAAAAAAATTGGCCCCATGCAGTGGCTT GTGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGG TCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATAC AAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGG AGAATGGCATGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGC CACTGCACTCCAGCCTGGG	TRIM54	ENSG00000138100.14	transcript	ENST00000380075.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM58_chr1_247852187_247885138	247870417	G G	GCCCAGAA others(742): Show GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCACG CCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGC CACCCACAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACG CCCAGAAGAATGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGC CACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCCGTATCAGAGTCAAGGCCACCCATAGAGCCTGCACCACCACG CCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGC CACCCAGAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0138 a0003c0002t0002g0138	1	454	0.0022	749	c.871 others(766): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCAGAAGAACG AGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGCCACCCACAGAGC CTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTA TCAGAGTCACAGCCACCCACAGAGCCTGCACCACCACGCCCAGAAGAACG AGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGC CTGCACCACCACGCCCAGAAGAATGAGGATTAGTATATTCATGAGCAGTA TCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACG AGGATTAGTATATTCATGAGCCGTATCAGAGTCAAGGCCACCCATAGAGC CTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTA TCAGAGTCACGGCCACCCAGAGAGCCTGCACCACCACGCCCAGAAGAACG AGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGC CTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTA TCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAACG AGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870568	C C	CCCAGAAG others(742): Show CCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGC CACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCACG CCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGC CACCCACAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACG CCCAGAAGAATGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGC CACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCCGTATCAGAGTCAAGGCCACCCATAGAGCCTGCACCACCACG CCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGC CACCCAGAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACA CCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGC CACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCATG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0139 a0003c0002t0002g0139	1	454	0.0022	749	c.871 others(766): Show c.871+2626_871+2627insAGCCACCCACAGAGCCTGCACCACCACG CCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGC CACCCACAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACG CCCAGAAGAATGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGC CACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCCGTATCAGAGTCAAGGCCACCCATAGAGCCTGCACCACCACG CCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGC CACCCAGAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACA CCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGC CACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATAT TCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCATG CCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCC ACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATT CATGAGCAGTATCAGAGTCAC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TSNAXIP1_chr16_67801889_67833068	67809198	G G	GGTGGCTC others(742): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGCC TATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCTG GGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACGG TGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGATT GCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCCT GTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGCCAGGCACA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0048 a0001c0009t0001g0048	1	256	0.0039	749	c.47+ others(764): Show c.47+2045_47+2046insGGTGGATCACGAGGTCAGGAGATCGAGGCC ATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA ATTAGCCGGCCGTGGTGGCGGGTGCCTATAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCA AGATCTCGCCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTC AAAAAAAAAAGCACAGCCAGGCACGGTGGCTCACCCCTATAATCCTATTA CTTTGGGAGGCCAAGGCAGGCAGATTGCCTGAGCTCAGGAGTTCGAGACC AGGCTAGACAATATGGCAAAAACCCTGTTTCTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCT CCCAAGCAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAAAACCCTGTTTCTAATA GCAATACAAAATATTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCAAGGTG	TSNAXIP1	ENSG00000102904.15	transcript	ENST00000561639.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCACACAC others(742): Show CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCATACACACCACACACCCCCCACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCATACACACCACACACCCCCCACACACCACA CCCCATACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACCACACCCCACACACACCACACACCCCCCACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACAAACCACACACCCTACACACCCCACACACACCA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	338	0.0030	749	c.35 others(768): Show c.35+21490_*35+21491insCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC CCACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCATACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCATACACACCACACACC CCCCACACACCACACCCCATACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACCACACCCCACACACACCACACACCCC CCACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACAAACCACACACCCTACACA CCCCACACACACCACACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN_chr2_27302400_27313445	27304386	A A	ACCAGCCT others(742): Show ACCAGCCTGGGCGACAGAGCGAGACCTCCATGTCTAAAAAAAAATTTTTT TTTTTTAGAGATGGAGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGT AGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTGTC CTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACCACGCC CAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCC AGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCTTCCGCCTCCCA AAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCGGACTAAAACAATGT TTTTGTTTTAATTAGTTGGGAGTGGTGGCATGTGCCTGTAATCCCAGCTA CTAGGGAGGCTGAAGCAGGAGGATCACCTGAGTGCAGGAGTTTGAGGATC CAGTGAACAATGATCATACCACTGCACTCCAGCCTGAGTGACAGAGTGAG ACTGTCTCTTAAAAAAAAAAATTGGCCCCATGCAGTGGCTTGTGTCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAAGACCA TCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTA GCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGAGAATGGCA TGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 NA18966.hp1 NA18988.hp2 HG03669.hp2 NA18966.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	322	0.0093	749	c.31 others(760): Show c.3134_*3135insAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCT CTGCCTCCCGAGTTCATGCCATTCTCCGAGTAGCTGGGACTACAGGCGCC CACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTTGACCTTGTGATCCGCCTGCCTCGGCCT CCCAAAGTGCTGGGATTACAGACACAAGCCACTGCATGGGGCCAATTTTT TTTTTTAAGAGACAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTA TGATCATTGTTCACTGGATCCTCAAACTCCTGCACTCAGGTGATCCTCCT GCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCACATGCCACCACTCCCA ACTAATTAAAACAAAAACATTGTTTTAGTCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGTACTTTGGGAGGCGGAAGCGGGCGGATCACGAGGTCAGG AGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTTCCAGCTACT CAGGAGGCTGAGGCAGGACAATGGCGTGAACCCAGGAGGTGGAGCTTGCA GTGAGCCGAGATCACTACACTGCACTCCAGCCTGGGCGACAGAGCGAGAC CTCCATCTCTAAAAAAAAAAAATTTTTTTTTAGACATGGAGGTCTCGCTC TGTCGCCCAGGCTGG	UCN	ENSG00000163794.6	transcript	ENST00000296099.2	protein_coding		3013		chr2	TogoVar

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