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
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(727): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCGGGGGAGGGGGGAGG AGGGGGAGCTGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTG GGGAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGG GAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAG GAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0060 a0001c0003t0010g0060	1	11	0.0909	734	c.-26 others(743): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCC TCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCC AGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGC TCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTC CTCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCC TCCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCC CCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(727): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAG GAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGA GGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCT GGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGAGGA GGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGG GAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAG GAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGG GAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0106 a0001c0005t0001g0106	1	11	0.0909	734	c.-26 others(743): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCT CCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCA GCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCC TCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTC CCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC TCCCCAGCTCCCCCTCCTCCCCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(727): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTG GGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGAGGA GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGAGGAGGGAGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAG GAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGG GAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	11	0.0909	734	c.-26 others(743): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCTCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCT CCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAG CTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTC CTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCT CCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(727): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGG GAGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGA GGAGGGAGAGCAGGGGAGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGG AGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGG GAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0134 a0001c0001t0006g0134	1	11	0.0909	734	c.-26 others(743): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTC CTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCTCCCCTGCTCTCCCTCCT CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCC CCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(727): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG02257.hp2 HG02922.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0046 a0001c0016t0001 a0001c0016t0046	a0001c0016t0001g0022 a0001c0016t0046g0020 a0001c0016t0001g0022 a0001c0016t0046g0020	2	178	0.0112	734	c.925 others(749): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(727): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAG GGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAG TCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAG TAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAG TAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCAC TCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTC TCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTG GCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0101 a0001c0001t0006g0101	1	85	0.0118	734	c.827 others(749): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(727): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAG GGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAG TCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAG TAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGCTATTTGTAG TAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCAC TCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTC TCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTG GCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	85	0.0118	734	c.827 others(749): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATAGCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(727): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAG GGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAG TCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAG TAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAG TAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCAC TCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTC TCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTG GCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03486.hp1 HG01175.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0100 a0001c0001t0001g0105	2	86	0.0233	734	c.827 others(749): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(727): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAG GGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAG TCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAG TAGTTGGGCCTACAGGTGCCCTATGCCTGGCTAATTTTTGGTATTTGTAG TAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCAC TCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTC TCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTG GCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	85	0.0118	734	c.827 others(749): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATAGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(727): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAG GGGAGATATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAG TCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAG TAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAG TAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCAC TCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTC TCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTG GCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	85	0.0118	734	c.827 others(749): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATAT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(727): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAT TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAG GGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAG TCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAG TAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAG TAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCAC TCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTC TCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTG GCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00733.hp1 others(19): Show HG00099.hp2 HG00140.hp2 HG00733.hp1 HG00738.hp2 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02293.hp2 HG02698.hp1 HG02698.hp2 HG03239.hp2 HG03579.hp2 HG03704.hp2 NA18949.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0006 a0001c0001t0001g0171 a0001c0001t0001g0176 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0243 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0007g0018 a0001c0001t0007g0214 a0001c0001t0007g0269	22	106	0.2075	734	c.827 others(749): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAATGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(727): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAT TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAGGG GAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAGTC TCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGC AAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAGTA GTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAGTA GAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCACTC GTGATCCGCCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCATGCCCGGCCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTC TCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTG GCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0282 a0005c0006t0001g0282	1	85	0.0118	734	c.827 others(749): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGGCCGGGCAT GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGGCGG ATCACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCT GTCTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGC CCAACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAG AGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAG AGTGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGAT CTCTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGA TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAATGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(727): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAG GGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAG TCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAAGCTCCGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAG TAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAG TAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCAC TCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTC TCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTG GCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	85	0.0118	734	c.827 others(749): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCGGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(727): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAGG GGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTTGAGACAGAG TCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAAGCTCCGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAG TAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAG TAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCAC TCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTC TCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTG GCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02895.hp1 others(1): Show HG02109.hp2 HG02145.hp2 HG02895.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0086 a0001c0004t0004g0087 a0001c0004t0004g0088 others(1): Show a0001c0004t0004g0086 a0001c0004t0004g0087 a0001c0004t0004g0088 a0001c0004t0004g0089	4	88	0.0455	734	c.827 others(749): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCGGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATC TCTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGAT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(727): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC TATAACCATCACCACCACACACCACAACTACCACCACCACCACCATCACC ACTATAACCACTAGCACCACCACTACTATAACCATCACCACCGCTATAAC CACCATCACCACCACCACTACCACTACTGTAACCATCACCACCATCACTG CTATAACCACCACCACCACCACTATAACCATCACCACCATCACCACTATA ACCACCACTACCACCACCACCACTATAACCACCACCACCACCACTATAAC CACCATCATCATCACCACCACTACCACTACTACAACCATTACCACCACCA CTGCTATAACCATCACCACTACCACTACTACCACTACTACAACCATTACC ACCATCACTGCTATAACCACCACCACCACCACCATTATCACCATCACCAT CACACACCACAACTACCACCACCACCACCATCACCACTATAACCACTAGC ACCACCACTACTATAACCATCACCACCGCTATAACCACCATCACCACCAC CACTACCACTACTGTAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0070 a0001c0006t0003g0070	1	45	0.0222	734	c.724 others(753): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTG TGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGC AGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGG TTATAGCAGTGGTGGTGGTAATGGTTGTAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGG TGGTTATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTG GTGATGGTGGTTATAGCGGTGGTGATGGTTATAGTAGTGGTGGTGCTAGT GGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTGTGGTGTGTGGTGGTG ATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGT TACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGG TGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTG GTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGAT GGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAT others(727): Show GCTATAATCACCACCACCACCACTATAACCATCACCACCATCACCACTAT AACCACCACTACCACCACCACCATTATAACCATCACCACCACCACTATAA CCACCATCATCATCACCACCACTACCACTACTATAACCATCACCACCATC ACTACTATAACCACCACCACCACCACCACCACTATAACCACCATCATCAT CACCACCACTACCACTACTATAACCATTACCACCATTACTACTATAACCA CCACCACCACCACCACTACCACTATAATCATTACCACTATAACCACCACT ACCACCACCACCACCATTATAACCATCACCACCACCACTATAACCACCAT CATCATCACCACCACTACCACTACTTTAACCATTACCACCATTACTACTA TAACCACCACCACCACCACCACCACCACTATAATCATTACCACTATAACC ACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTATAAC CACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAAC CAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCACTAC TACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACCACCA CCACCATCACTATAACCATCACCATCATCACCACTATAACCACCACTACC ACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0149 a0001c0009t0011g0149	1	83	0.0120	734	c.724 others(753): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGGTTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTAAAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTAGTGGTGG TGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTA GTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTGGTGGT TATAGTAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGA TGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTA GTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGT GATTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(727): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAG GAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGG AGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGGGG AGGAGGGGGAGGAGGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGG GAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGAGGAGGAAGAGGGGGGAGGAGGAGGAAGAGGGGGGAGG AGGAGGAAGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGG GAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGG AGGAAGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0001 a0001c0114t0001	a0001c0114t0001g0154 a0001c0114t0001g0154	1	224	0.0045	734	c.118 others(753): Show c.11806-558_11806-557insCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCTCCCTCCTCCTTCCTCCCTCCTCCTC CTCCTTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCT CTTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCCTCTTCCTCCTCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCC TCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCCTCCT CCCCCTCCTCCCCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCTCCCCCTC CTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(727): Show AGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGG AGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGG AGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGA GGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGA GGAGGAGGGAGGAGGGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGA GGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGG GAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGA GAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAG GAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGG AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0064 a0064	a0064c0157 a0064c0157	a0064c0157t0002 a0064c0157t0002	a0064c0157t0002g0062 a0064c0157t0002g0062	1	214	0.0047	734	c.118 others(753): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCC TCCCTCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCC CTCCTCCTCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC CTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCT CCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCT CCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCT CCCTCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCCTCCT CCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCT CCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTC CTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCT CCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EEF1A2_chr20_63483014_63504083	63486886	A A	ACCTGCCC others(727): Show ACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCC CATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTC CACCCAACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCG ACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTTC TCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCTTCATCCTCAGG GAACCTGCCCACCCTCCACCCGACCTCCTCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACC TCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACCC CACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTC CTCCGCATCCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCTGT ATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCA GGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAAC CTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCA CCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	340	0.0029	734	c.14 others(745): Show c.1411_*1412insCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCC CTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGA TACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGA GGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGT GGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGG AGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTG GGCAGGTTCCCTGAGGATGCAGAGGAGGTCGGGTGGAGGGTGGGCAGGTT CCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAG GATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGG AGAAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTTGGGT GGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGAT GGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1127		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486901	A A	ACCCTGAC others(727): Show ACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGA CCTCACCTGCACCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTCC GCATCCTCAGGGAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATCC TCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCCGCATCCTCAGGGA ACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCC CACCCTCCACCCGACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTC CACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCA CCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCT CTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCCGAATC CTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCCGAATCCTCAGG GAACCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGCT GCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAAGGAACCTGCCCATC CTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACC CCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCT CCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	337	0.0030	734	c.13 others(745): Show c.1396_*1397insGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGA GGATGGGCAGGTTCCTTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGG CAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGTT CCCTGAGGATTCGGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGA GGATTCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGT GGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTCGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCGGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATG CGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGTGCAGGTGAG GTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1112		chr20	TogoVar
F7_chr13_113100791_113125685	113107890	A A	AGGGTGTC others(727): Show AGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGT GTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGAG TGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAG GCGAGGGTGTCCCAGGAGCGTGGGTGTTCCGGAGGCGAGGGTGTCCCAGG AGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGG GGGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCG GGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGGGTCGTGGGTGTCC CGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTT CCAGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGT CCCGGGAGTGTGGGTGTCCCAGGGGCGTGGGTGTCCGGGGGGCGTGGGTG TCCCGGGGGTGTGGGTGTCCCGGGGGTCGTGGGTGTCCCGGGAGTGTGGG TGTCCCGGAGGCGAGGGTGTCCCAGGAGTGTGGGTGTCCCGGGGGCGTGG GTGTCCCGGGAGTGTGGGTGTTCCAGAGGCGAGGGTATCCCAGAAGTGTG AGTGTCCCGGGGGTGTGGGTGTCCCGGGGGTCGTGGGTGTCCCGGGAGTG TGGGTGTTCCAGAGGCGAGGGTGTCCCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	398	0.0025	734	c.64+ others(749): Show c.64+1989_64+1990insGTCCCGGGAGTGTGGGTGTTCCGGAGGCGA GGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGGGTG TGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGT GTGGGTGTTCCGGAGGCGAGGGTGTCCCAGGAGCGTGGGTGTTCCGGAGG CGAGGGTGTCCCAGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGA GTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGA GGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGG GGGTCGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCC GGGAGTGTGGGTGTTCCAGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCC CGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCAGGGGCGTGGGTGTC CGGGGGGCGTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGGGTCGTGGGTG TCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCAGGAGTGTGGGT GTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTTCCAGAGGCGAGGG TATCCCAGAAGTGTGAGTGTCCCGGGGGTGTGGGTGTCCCGGGGGTCGTG GGTGTCCCGGGAGTGTGGGTGTTCCAGAGGCGAGGGTGTCCCGGGAGTGT GGGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM222B_chr17_28750980_28847790	28799392	G G	GGTTCAAG others(727): Show GGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACCACAGG CGCCTGCCACCACGACCGGCTAATTTTTTTTTGTTGTTGTTGTATTTTTA GTAGAGACGGGGTTTCACAGTGTTCGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCACCTCGGCCTACCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCAGCCAAAACTTTCTTTTTTTAAGAGACAGGGCTCACT CTGTCACCCAGGCTTCAGTGCAGTTGCACCACTATAGCTCACTGCAGCCT CAAACTCCTAGGCTCAAGTGATCCTCCTGCCTCAATCTCCTGAGTAAGCT GGGACTACAGGTGATTGCCACCACACTCAGGTAATTATTTTATTTTTTGT AGAAACAAGATCTCGGCTGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTC AGGAGATCCTCCTGCCTTGGCCTCCCAAAGTTCTAGGATTATAGGTGTGA GTCACCACACCTGGCAAGAAAGGCTCTTTAAACAATAAGAAAACAAAGTA ATGCAAACTTCCACACATACCAAAGACTGCTGTTGTATGTAACTATGACT TTGATAAAGACTGGCATTTCTCTGGTTGAGCAATGATACTTTCTTTTTTT TTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCATGCTGGAGTGCCATGG CACGATCTCGGCTCACAGCAACCTCCGCCTCCCGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01358.hp1 HG02273.hp2 others(2): Show HG00738.hp1 HG01358.hp1 HG02273.hp2 HG02300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0010t0001g0098	5	274	0.0182	734	c.-40 others(753): Show c.-40-33419_-40-32686dupGCGGGAGGCGGAGGTTGCTGTGAGCC GAGATCGTGCCATGGCACTCCAGCATGGGCAACAAGAGTGAAACTCCGTC TCAAAAAAAAAAAAAAGAAAGTATCATTGCTCAACCAGAGAAATGCCAGT CTTTATCAAAGTCATAGTTACATACAACAGCAGTCTTTGGTATGTGTGGA AGTTTGCATTACTTTGTTTTCTTATTGTTTAAAGAGCCTTTCTTGCCAGG TGTGGTGACTCACACCTATAATCCTAGAACTTTGGGAGGCCAAGGCAGGA GGATCTCCTGAGCCTAGGAGTTCAAGACCAGCCTGGGCAACAGCCGAGAT CTTGTTTCTACAAAAAATAAAATAATTACCTGAGTGTGGTGGCAATCACC TGTAGTCCCAGCTTACTCAGGAGATTGAGGCAGGAGGATCACTTGAGCCT AGGAGTTTGAGGCTGCAGTGAGCTATAGTGGTGCAACTGCACTGAAGCCT GGGTGACAGAGTGAGCCCTGTCTCTTAAAAAAAGAAAGTTTTGGCTGGGC GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAGGCCGAGGTGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCGAACACTGTGAAACCC CGTCTCTACTAAAAATACAACAACAACAAAAAAAAATTAGCCGGTCGTGG TGGCAGGCGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATC GCTTGAAC	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(727): Show TATATAAATATATAAATATATAAATAAAAATATATAAAAATATATACATA TATAAATATAAATATATAATATATAAATATATAAATATATAAATATATAA ATATAAATATATAAAAATATATAAATATATAAAAATATATAAATATATAA AAATATATAAATATATATAAATATATAAATATATAAATATATATAAATAT ATAAATATATAAAAATATATAAATATATAAATATATAAAAATATATAAAT ACATAAATATATAAATATATAAATATATAAATATATATAAGTACATATAA ATATATATACATAAATATATAAATATATAAATATATAAATATATAAATAC ATAATATATATAAATATAAAATATATATAATATATAAAATATATTAAAAA TATAAAAATATATATAAAAAAATATATAAATATATAAAAATATATAAAAA ATATATACACATATAAATATATATAAAAATATATAAATATATATAAAAAT ATATAAATATATATTATATATAAATATATAATATATAAATATATATAAAT ATATAAATATATATAAATATATAATATATAAATATATATAAATATATACA ATATATAAATATATATAAATATATACAATATATAAATATATATAAATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATAAA TATATACAATATATAAATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0147 a0007c0009t0001g0147	1	217	0.0046	734	c.617 others(751): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTGTATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTATATATTTATATATA TTTATATATTTATATATATTTATATATTATATATTTATATATAATATATA TTTATATATTTTTATATATATTTATATATTTTTATATATATTTATATGTG TATATATTTTTTATATATTTTTATATATTTATATATTTTTTTATATATAT TTTTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATAT ATATTATGTATTTATATATTTATATATTTATATATTTATATATTTATGTA TATATATTTATATGTACTTATATATATTTATATATTTATATATTTATATA TTTATGTATTTATATATTTTTATATATTTATATATTTATATATTTTTATA TATTTATATATTTATATATATTTATATATTTATATATTTATATATATTTA TATATTTTTATATATTTATATATTTTTATATATTTATATATTTTTATATA TTTATATTTATATATTTATATATTTATATATTTATATATTATATATTTAT ATTTATATATGTATATATTTTTATATATTTTTATTTATATATTTATATAT TTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(727): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCCTCTCCCTCCCTCCCC TCTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTC TCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTT CCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCA CCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTC CCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTT CTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTC TCCTTCCCGCTCCCTCTCTCCCCCTTTCTCCCTCTCTCTCCCTCCCCCTC CCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCT CTCCCCCCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTC CCCCTGCCCTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCC TCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCC CCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCT CCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCC TCTCTCCCACTCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	4	0.2500	734	c.126 others(751): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGG GGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGAGAGG GCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGGG GGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGG AGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGGAGAGAGGGAGCG GGAAGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGG GAAGGAGAAAGAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAG GGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGG AGGGGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAG AGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGA GGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGG GGAGAGAGGGGAGGGAGGGAGAGGGGGGGAAAGGGGAGGGAGAGGGGGGA AAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(727): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCT CCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTC CCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCAC CCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCC CTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTTC TCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCT CCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCC TCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCT CCCCCCCCTCCTTCTCTCCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CCCTGCCCTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCT CTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCC CCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCCT CCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCC TCTCTCCCACTCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0024 a0001c0002t0007g0024	1	4	0.2500	734	c.126 others(751): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGG GAAAGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGG GGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGAGAG GGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGGAGAGAAGGAG GGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGG GGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGC GGGAAGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCG GGAAGGAGAAAGAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGA GGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGG GAGGGGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGA GAGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAG AGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGG GGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGA AAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(727): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCCTCTCCCTCCCCTTTCCCCCTCTCCCTCCCTCCCCTCTCTC CCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCCTCTCCCTCCCTCCCCTTC CCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCAC CCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCC CTCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTTCT CCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCTC CTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCT CTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTC CCCCCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCC CTGCCCTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCT CTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCCTTCTCCCTCTCTCCCCC CCTTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCCTC CCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCT CTCTCCCACTCTCTGTCCCCCTCTCCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	4	0.2500	734	c.126 others(751): Show c.1260+931_1260+932insGGAGACAGGGGAGAGGGGGACAGAGAGT GGGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGA GAGGGGGGAGGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAG GGAAAGGGGGGGAGAGAGGGAGAAGGGAGGTGGGGAGAGAGGGAGAAGGA GGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGAG AGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGA GGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAG GGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAG CGGGAAGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGC GGGAAGGAGAAAGAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGG AGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGG GAGGGGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGA GAGGGGGGAAGGGGAGGGAGGGAGAGGGGGGGAGAGAGGGGAGGGAGGGA GAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGAAAGGGGAGGGAGAGGG GGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGA AAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(727): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTTTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCC TCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCT CTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCCT CTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCC TCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCC CCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCC TCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGT CTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCT CCCTCTCTCCCCCTGCCCTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCCC TCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTC TCCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCCC CTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCC CCTCTCTCCCACCCTCTGTCCCCCTCTCCGTCTCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp2 HG02630.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0197 a0001c0002t0002g0198	2	5	0.4000	734	c.126 others(751): Show c.1260+931_1260+932insGGAGACGGAGAGGGGGACAGAGGGTGGG AGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAG GGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAG AGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAG GGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGGA GAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGA GGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGG AGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGA AAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGG AGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAG GAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGG GAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGG GGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGG GGGGAAGGGGAGGGAGGGAGAGGGGGGAAAGAGGGGAGGGAGGGAGAGGG GGGAAAGGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGA AAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GRAMD4_chr22_46615386_46684785	46635199	G G	GACCCCGG others(727): Show GACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACC CCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGC CACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACT CCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTG TCCTGGGAGGCTGTATCCTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCT GGGGAACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGG AACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTG CCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCC CGCCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACC CCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGCCCCCGCCCCCG GCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCGCCCCCGGCCAC TCCTGTCCGGGGAGGCCGTGTCCTCCCTGCCCCCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02559.hp1 others(3): Show HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 others(3): Show a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0013g0043	6	302	0.0199	734	c.163 others(751): Show c.163-2641_163-2640insACCCCGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGAGGCCGTGT CTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGC CCCCGACCCCGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCC GCCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCCCCGACC CCGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCCCCGACCCCGG CCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCAC TCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCTGGCCACTCCT GTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCTGGCCACTCCTGTCC TGGGAGGCCGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGG AGGCCCTATCCTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGAGGC CGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTG TCCTGCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTT CCCTGCCCCGCCCCCGGCCACTCCTGTCCGGGGAGGCCGTGTCCTCCCTG CCCCCA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(727): Show CCCCACACACAGACTCACACATCACCACACAGATAAACAACACACACACA TATCACACAGATACAGACCACACACACACACAATCACCACATAGATACAC ACCACACACACACACACATCACCACATAGATACACACCACACACACATCA CCATACAGATACACACCACACACACATCTCCACACATTACCATACAAATA TACGCCATCCACACACACCCACACATCACCACACAGATACACACCACAGA CACATAATCACCACACACCACACAGACACACACATCACCACACAGATACA CACCACACACACCCCCATACATCACCACACAGATACACACCACGCACCAC ACAGATACACACCACACACACCCACACATCACCACACAGATACATACCAC ACACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATC ACCACACAGATACACACCCCACACAGACACATGCACATACATCACACACA CACCACACACACACATCGCCACACAGACACACACCCACATCACCACACAG CTACATACCACACACACACACCACCACACATCACCACACAGATGCACAAC ACACACCCACACATCACCACACAGACACACACACACACATCATCAGATAC ACACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGATAC ACACCACGCACACGTCACCACACAGATACCACACA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0073 a0001c0003t0003g0073	1	197	0.0051	734	c.737 others(753): Show c.737-11238_737-11237insTGTGTGGTATCTGTGTGGTGACGTGT GCGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGTGT GGTATGTAGCTGTGTGGTGATGTGGGTGTGTGTCTGTGTGGCGATGTGTG TGTGTGGTGTGTGTGTGATGTATGTGCATGTGTCTGTGTGGGGTGTGTAT CTGTGTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGATTG TGTGTGTGTGTGGTATGTATCTGTGTGGTGATGTGTGGGTGTGTGTGGTG TGTATCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTG TGTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGT GATTATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGGTGTGTGTG GATGGCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTA TCTGTATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGT GTGTGTGGTGTGTATCTATGTGGTGATTGTGTGTGTGTGTGGTCTGTATC TGTGTGATATGTGTGTGTGTTGTTTATCTGTGTGGTGATGTGTGAGTCTG TGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(727): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACAATCACCACATAGATACAC ACCACACACACACACACATCACCACATAGATACACACCACACACACATCA CCATACAGATACACACCACACACACATCTCCACACATTACCATACAAATA TACGCCATCCACACACACCCACACATCACCACACAGATACACACCACAGA CACATAATCACCACACACCACACAGACACACACATCACCACACAGATACA CACCACACACACCCCCATACATCACCACACAGATACACACCACGCACCAC ACAGATACACACCACACACACCCACACATCACCACACAGATACATACCAC ACACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATC ACCACACAGATACACACCCCACACAGACACATGCACATACATCACACACA CACCACACACACACATCGCCACACAGACACACACCCACATCACCACACAG CTACATACCACACACACACACCACCACACATCACCACACAGATGCACAAC ACACACCCACACATCACCACACAGACACACACACACACATCATCAGATAC ACACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGATAC ACACCACGCACACGTCACCACGCAGATACCACACA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	197	0.0051	734	c.737 others(753): Show c.737-11238_737-11237insTGTGTGGTATCTGCGTGGTGACGTGT GCGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGTGT GGTATGTAGCTGTGTGGTGATGTGGGTGTGTGTCTGTGTGGCGATGTGTG TGTGTGGTGTGTGTGTGATGTATGTGCATGTGTCTGTGTGGGGTGTGTAT CTGTGTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGATTG TGTGTGTGTGTGGTATGTATCTGTGTGGTGATGTGTGGGTGTGTGTGGTG TGTATCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTG TGTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGT GATTATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGGTGTGTGTG GATGGCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTA TCTGTATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGT GTGTGTGGTGTGTATCTATGTGGTGATTGTGTGTGTGTGTGGTCTGTATC TGTGTGATATGTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGAGTCTG TGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(727): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACAATCACCACATAGATACAC ACCACACACACACACACATCACCACATAGATACACACCACACACACATCA CCATACAGATACACACCACACACACATCTCCACACATTACCATACAAATA TACGCCATCCACACACACCCACACATCACCACACAGATACACACCACAGA CACATAATCACCACACACCACACAGACACACACATCACCACACAGATACA CACCACACACACCCCCATACATCACCACACAGATACACACCACGCACCAC ACAGATACACACCACACACACCCACACATCACCACACAGATACATACCAC ACACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATC ACCACACAGATACACACCCCACACAGACACATGCACATACATCACACACA CACCACACACACACATCGCCACACAGACACACACCGACATCACCACACAG CTACATACCACACACACACACCACCACACATCACCACACAGATGCACAAC ACACACCCACACATCACCACACAGACACACACACACACATCATCAGATAC ACACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGATAC ACACCACGCACACGTCACCACACAGATACCACACA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0209 a0001c0003t0003g0209	1	197	0.0051	734	c.737 others(753): Show c.737-11238_737-11237insTGTGTGGTATCTGTGTGGTGACGTGT GCGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGTGT GGTATGTAGCTGTGTGGTGATGTCGGTGTGTGTCTGTGTGGCGATGTGTG TGTGTGGTGTGTGTGTGATGTATGTGCATGTGTCTGTGTGGGGTGTGTAT CTGTGTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGATTG TGTGTGTGTGTGGTATGTATCTGTGTGGTGATGTGTGGGTGTGTGTGGTG TGTATCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTG TGTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGT GATTATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGGTGTGTGTG GATGGCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTA TCTGTATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGT GTGTGTGGTGTGTATCTATGTGGTGATTGTGTGTGTGTGTGGTCTGTATC TGTGTGATATGTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGAGTCTG TGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(727): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACAATCACCACATAGATACAC ACCACACACACACACACATCACCACATAGATACACACCACACACACATCA CCATACAGATACACACCACACACACATCTCCACACATTACCATACAAATA TACGCCATCCACACACATCCACACATCACCACACAGATACACACCACAGA CACATAATCACCACACACCACACAGACACACACATCACCACACAGATACA CACCACACACACCCCCATACATCACCACACAGATACACACCACGCACCAC ACAGATACACACCACACACACCCACACATCACCACACAGATACATACCAC ACACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATC ACCACACAGATACACACCCCACACAGACACATGCACATACATCACACACA CACCACACACACACATCGCCACACAGACACACACCCACATCACCACACAG CTACATACCACACACACACACCACCACACATCACCACACAGATGCACAAC ACACACCCACACATCACCACACAGACACACACACACACATCATCAGATAC ACACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGATAC ACACCACGCACACGTCACCACACAGATACCACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp2 HG02155.hp2 HG00140.hp2 HG01081.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0220 a0001c0001t0002g0262 a0001c0003t0003g0205 a0001c0001t0002g0220 a0001c0001t0002g0262 a0001c0003t0003g0205	3	199	0.0151	734	c.737 others(753): Show c.737-11238_737-11237insTGTGTGGTATCTGTGTGGTGACGTGT GCGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGTGT GGTATGTAGCTGTGTGGTGATGTGGGTGTGTGTCTGTGTGGCGATGTGTG TGTGTGGTGTGTGTGTGATGTATGTGCATGTGTCTGTGTGGGGTGTGTAT CTGTGTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGATTG TGTGTGTGTGTGGTATGTATCTGTGTGGTGATGTGTGGGTGTGTGTGGTG TGTATCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTG TGTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGT GATTATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGATGTGTGTG GATGGCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTA TCTGTATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGT GTGTGTGGTGTGTATCTATGTGGTGATTGTGTGTGTGTGTGGTCTGTATC TGTGTGATATGTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGAGTCTG TGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(727): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGG GTCAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0026 a0002c0003t0003g0026	1	145	0.0069	734	c.369 others(751): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAG GGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(727): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCC ACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTA AAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCC ATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGT GAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTG CCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGA GTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGC CACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACCCCT GAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCA CCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGC TGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCT GAGTGAGAGGGTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCA GCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG03209.hp2 HG02257.hp1 HG02630.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0017t0002 a0001c0001t0002 a0001c0017t0002	a0001c0001t0002g0105 a0001c0017t0002g0094 a0001c0017t0002g0095 a0001c0001t0002g0105 a0001c0017t0002g0094 a0001c0017t0002g0095	3	243	0.0123	734	c.430 others(749): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCATC CCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGA TGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCT CTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCCCA GCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACC CTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTC CTGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCAC CCCTTTACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTG GTGGTGGCCCCCACCCCCTCACTCAGGGGTCCTGATGGCGGCCCCCACCC CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCT GATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF3B_chr20_32272651_32340011	32323070	T T	TTATATAC others(727): Show TTATATACATATATTTATATATATATTTATATATATTTATATACATATAT TTATATATATATTTATATATATATTTATATACATATATTTATATATATAT TTATATATATATTTATATACATATATTTATATATATATTTATATATATAT TTATATACATATATTTATATATATATTTATATATATATTTATATACATAT ATTTATACATATATTTATATATATTTATATACATATATTTATACATATAT TTATATATATATTTATATACATATATTTATATATATATTTATATATATAT TTATATACATATATTTATATATATATTTATATACATATATTTATATATTT ATATATATTTATATATATTCATATTTATATTTATATATATTTATATATAT TCATATTTATATTTATATATATTTATATATATATTTATATTTATATATAT ATTTATATTTAATTATATTTATATATATTTATATATATATTTATATTTGT ATATATTTATATATATGTATATTTATATATATTTATATATTTATATATTT ATATTTATATATATCTATATATTTATATATATTTATATATTTATATTCAT ATATATTTATATATTTATATATATTTATATATTTATATTTATATATATTC ATATTTATATATATTTATATATTTATATTTATATATATTTATATTTATAT ATTTATATATTTATATTTATATATATTTATATTTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0080 a0001c0003t0010g0080	1	190	0.0053	734	c.174 others(753): Show c.1749-3695_1749-3694insCATATATTTATATATATATTTATATA TATTTATATACATATATTTATATATATATTTATATATATATTTATATACA TATATTTATATATATATTTATATATATATTTATATACATATATTTATATA TATATTTATATATATATTTATATACATATATTTATATATATATTTATATA TATATTTATATACATATATTTATACATATATTTATATATATTTATATACA TATATTTATACATATATTTATATATATATTTATATACATATATTTATATA TATATTTATATATATATTTATATACATATATTTATATATATATTTATATA CATATATTTATATATTTATATATATTTATATATATTCATATTTATATTTA TATATATTTATATATATTCATATTTATATTTATATATATTTATATATATA TTTATATTTATATATATATTTATATTTAATTATATTTATATATATTTATA TATATATTTATATTTGTATATATTTATATATATGTATATTTATATATATT TATATATTTATATATTTATATTTATATATATCTATATATTTATATATATT TATATATTTATATTCATATATATTTATATATTTATATATATTTATATATT TATATTTATATATATTCATATTTATATATATTTATATATTTATATTTATA TATATTTATATTTATATATTTATATATTTATATTTATATATATTTATATT TATATATA	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(727): Show TATATATATCCATATATATATATCCATATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATTTCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATCCA TATATATATAATCCATATATATATATATCCATATATATATATCCATATAT ATATATCCATATATATATATCCATATATATATATATCCATATATATATCC ATATATATATCCATATATATATCCATATATATATATCCATATATATATAT CCATATATATAATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	207	0.0048	734	c.126 others(751): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATTATA TATATGGATATATATATATGGATATATATATATGGATATATATATGGATA TATATATGGATATATATATGGATATATATATATATGGATATATATATATG GATATATATATATGGATATATATATATGGATATATATATATATGGATTAT ATATATATGGATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATGGAAATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATATGGATATATATATATGGAT ATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
MAEA_chr4_1284891_1345137	1317117	G G	GCCCCACA others(727): Show GCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGC CCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGCCCCA CACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCA CCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCAC CCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACT CCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCG CAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCA GCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0310 a0001c0006t0001g0310	1	378	0.0026	734	c.456 others(751): Show c.456+1517_456+1518insCCCCACACTCTAGACTCACCCCCAGGCC CACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGCCCCAC ACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCAC CTGCAGGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCC GGCCCCCACACTCCACACTCACCTGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAG GCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCC CCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGA CTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACT CACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCC ACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCAC CCCAGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8			chr4	TogoVar
MAEA_chr4_1284891_1345137	1317175	T T	TGCAGGCC others(727): Show TGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCA GCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACAC TCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCC GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGC AGGCTCACCCCAGCCCCCACACTCCAGACTCACCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	102	0.0098	734	c.456 others(751): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCA CCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACAC TCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCC GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCG GTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCA GACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAG GCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCC CCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGA CTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGC CCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061789	A A	AATTATAT others(727): Show AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAAATTATATAT AATATAGAATATAATTATATAATATATAATTATATTCTATATAGAATATA ATTATATAATATATAATTATATTCTATAGAATATAATTATATAATATATA ATTATATTCTATAGAATATAATTATATAATATATAATTATATTCTATATT ATATAATTATAATATAATTATATAATATAATTATATTATATATAATTATA TTAAATATATTATATAATATATAATTATATTATATATTATATAATATATA ATTATAATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATAATATATAATATATAATATAATTATATATTATA TAATATATAATTATATTATATATTATAATACATTTAATATAATTATATTA TAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATATAAT ATATTATATATAATTATATTATAACATATTATATATAATTATATTATAGA TCATAATCTATAATATAATTATATATAATATGTTATAATATATAATTATA TTCTATATATAATTATATATAATATAATTATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	263	0.0038	734	c.-31 others(745): Show c.-3185_-3184insGAATATAATTATATTATATATAATTATATATAGA ATATAATTATATATTATAACATATTATATATAATTATATTATAGATTATG ATCTATAATATAATTATATATAATATGTTATAATATAATTATATATAATA TATTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCT ATAATATAATTATATTAAATGTATTATAATATATAATATAATTATATATT ATATAATATATAATTATATTATATATTATATATTATATAATATAATTATA TATTATATAATATATAATATAATTATATATTATATAATATATAATTATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATTTA ATATAATTATATATAATATAATTATATTATATAATTATATTATAATTATA TAATATAGAATATAATTATATATTATATAATTATATTCTATAGAATATAA TTATATATTATATAATTATATTCTATAGAATATAATTATATATTATATAA TTATATTCTATATAGAATATAATTATATATTATATAATTATATTCTATAT TATATATAATTTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATTATATATAAATTATATATTATATAATTATATTATATAT AAATTATATATTATATAATTATATTATATATAAATTATATATTATATAAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3114		chr19	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(727): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGCAGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAGAG GTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGT GATGGTGGTGATGGCTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02818.hp1 HG01891.hp1 HG02109.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0096 a0001c0001t0001g0194 a0001c0001t0001g0195	3	111	0.0270	734	c.480 others(753): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAGCCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCCACC ACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAACCTC TACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCCCCA CCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACCACCAC CATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(727): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGGTGGTGGTGGTGGTGATGGCAGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAGAG GTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGT GATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02165.hp2 others(2): Show HG00408.hp1 HG00438.hp1 HG02165.hp2 HG03927.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 others(2): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246	5	113	0.0442	734	c.480 others(753): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCACCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCCACC ACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAACCTC TACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCCCCA CCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACCACCAC CATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(727): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGTTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGCAGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAGAG GTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGT GATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02132.hp1 HG02559.hp1 others(11): Show HG00621.hp1 HG02132.hp1 HG02559.hp1 HG02572.hp1 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 NA18957.hp1 NA18983.hp2 NA19007.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0169 a0001c0001t0001g0170 others(11): Show a0001c0001t0001g0013 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0216	14	122	0.1148	734	c.480 others(753): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCAACACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCCACC ACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAACCTC TACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCCCCA CCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACCACCAC CATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(727): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGG GAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGGAGGGGAG GGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGG GGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGG GGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGG GAGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGG GGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	8	0.1250	734	c.250 others(749): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCTCC CCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCC CCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCC CTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCC TTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCC CTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCC CCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(727): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATATAAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	210	0.0048	734	c.-5+ others(749): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAA TCTTATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTAT ATATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATATA TAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATAT ATAAAATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATA TATCAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUSK_chr9_110663791_110811558	110690423	A A	AGTATATA others(727): Show AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATA TATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTA TGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATA TTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATATATA AAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATA AGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATATATA TTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATA TAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTC AATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAA AATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	312	0.0032	734	c.358 others(751): Show c.358+3155_358+3156insGTATATATAAATATATATATTTAAATAT AAGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATAT ATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATAT AAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14			chr9	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGAT others(727): Show GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGC GATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGAT GGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGA TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGAT GGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	4	0.2500	734	c.160 others(751): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ATCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCA CCACCATCACCACCACCATCACCACCACCATCACCACCACCACCATCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCAGCAGCACTACCACTAC CACCACCATCATGGTCACCACCATCATTACCACTACCACCACGACTACCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCAC CACCATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCACCA TCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(727): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGC CTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCG CCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	202	0.0050	734	c.148 others(753): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCA GTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(727): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACA GTGGGGCGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGA GCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0183 a0001c0003t0001g0201 a0001c0003t0001g0183 a0001c0003t0001g0201	2	284	0.0070	734	c.141 others(751): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATC GCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCC TGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCAT CCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATC CCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCC CCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCA TCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	841603	C C	CTGACCAC others(727): Show CTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCG CATCTCATGCCGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACC CGCGAGCAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACC ACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTC ATGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACACGGGCGAG CAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCT GACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCTGACCACGGAGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCATGCCGG CGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCC CCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGG CGCATCTCATGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACA TGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAG GTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0074	1	151	0.0066	734	c.361 others(753): Show c.361-15526_361-15525insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCATGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCA TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCTCGCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGG GGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCT CGCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAG ATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGAC CTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCGG CATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTC CGTGGTCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PDZK1IP1_chr1_47178582_47195036	47184459	G G	GCTCCATC others(727): Show GCTCCATCCCCCACTAAACCCATCTCCCAACAAGCTCCATCCCCCACCAA GCTCCATCCCCCACTAAACCCATTCCCACTGAGTCCATCACCCACTGAGT CCATCCCCCACTGAGTCCATCCTCCACTGAACCCATGCCCCACTGAACCC ATCCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAGCCCAT TCCCCACTGAGTCCATCCTCCACTGAGTCCATCCTCCACTGAACCCATGC CCCACTGAACCCATCCCCCACTGAACCATCCCCCACTGAACCTATCCCCC ACTGAGCCCATTCCCCACTGAGTCCATCCCCCACTGAGTCCATCCCCCAC TGAGTCCATCCCTCACTGAGTCCATCCCTTGCTGAGCCCATACCCGCTAA GTCCATCCCCCGCTGAGTCCATCCCCCGCTGAGTCCATCCCCTGCTGAGT CCATCCCCCACTGAGCTCCATCCCCCACTAAGCTCCATCCCCCACTAAAC CCATCTCCCAACAAGCTCCATCCCCCACCAAGCTCCGTCCGCCACCAAGC TCCATCCCCCACTAAACCCATCCCCCACTGAGCTCCATCCTCCACTGAAC CCATCCCCACTGAGTCCATCTCCCACTGAGTCCAACCCCACTGAACCCAT CCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAACCCATCC CTCACTGAACCCATCCTCCACTGAATCCATCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG01106.hp2 others(41): Show HG00597.hp1 HG00609.hp2 HG01106.hp2 HG01109.hp2 HG02040.hp2 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02738.hp2 HG02895.hp2 HG03239.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG04184.hp1 NA18612.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp2 NA19004.hp2 NA19010.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0018 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0002t0001g0043	44	45	0.9778	734	c.273 others(749): Show c.273-417_273-416insGGGGGATGGATTCAGTGGAGGATGGGTTCA GTGAGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGT GGGGGATGGGTTCAGTGGGGTTGGACTCAGTGGGAGATGGACTCAGTGGG GATGGGTTCAGTGGAGGATGGAGCTCAGTGGGGGATGGGTTTAGTGGGGG ATGGAGCTTGGTGGCGGACGGAGCTTGGTGGGGGATGGAGCTTGTTGGGA GATGGGTTTAGTGGGGGATGGAGCTTAGTGGGGGATGGAGCTCAGTGGGG GATGGACTCAGCAGGGGATGGACTCAGCGGGGGATGGACTCAGCGGGGGA TGGACTTAGCGGGTATGGGCTCAGCAAGGGATGGACTCAGTGAGGGATGG ACTCAGTGGGGGATGGACTCAGTGGGGGATGGACTCAGTGGGGAATGGGC TCAGTGGGGGATAGGTTCAGTGGGGGATGGTTCAGTGGGGGATGGGTTCA GTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGAGGATGGACTCAGT GGGGAATGGGCTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGTGG GGGATGGGTTCAGTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGGG GATGGACTCAGTGGGTGATGGACTCAGTGGGAATGGGTTTAGTGGGGGAT GGAGCTTGGTGGGGGATGGAGCTTGTTGGGAGATGGGTTTAGTGGGGGAT GGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding	3/3			chr1	TogoVar

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