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
C8orf82_chr8_144520733_144534111	144531192	G G	GAGCAGCA others(853): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAA GGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01934.hp2 HG01993.hp1 others(1): Show HG00408.hp2 HG01934.hp2 HG01993.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011	4	378	0.0106	860	c.-22 others(871): Show c.-2277_-2276insTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCC GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2082		chr8	TogoVar
CCDC183_chr9_136791338_136812741	136803215	G G	GGGGGCCC others(853): Show GGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCC CTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0004 a0001c0032t0001g0004	1	332	0.0030	860	c.666 others(875): Show c.666+436_666+437insTCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCAGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGCCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(853): Show GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGG AAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAA AGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC AGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGG GGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGA AAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0012 a0001c0003t0003g0012	1	221	0.0045	860	c.303 others(879): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCC CGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTT CCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCC CCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTT TCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDHR2_chr5_176544342_176600824	176591775	G G	GTTGTGAT others(853): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	1	176	0.0057	860	c.373 others(877): Show c.3734+292_3734+293insTGTGATGGTGATGGTGGTGATGATGGTG TTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATG GTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATG ATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTG ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATG GTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGAT	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGTGG others(853): Show GGGAGTGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAG GGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGG AGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCAGGGGAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGAGGAGGAGGGGAGCA GGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGAGGAGGGGGAGCTGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGG AGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0038 a0001c0001t0011g0038	1	11	0.0909	860	c.-26 others(869): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC CCTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCTCCTCCTCCTCCCCAGC TCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCCTCCT CCCCCCTCCCCTGCTCCCCCTCCTCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTCC CCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCAGCTCCC CTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCC TCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC CCTGCTCCCCCTCCTCCCCACTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(853): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC TCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTC CCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0070 a0003c0003t0001g0070	1	8	0.1250	860	c.217 others(875): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC TCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTC CCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(853): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCTCTCTCCTCCCCCTCTTCTCCTCCTCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCTCTTCC ACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTC TTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCTCCCCTCTTCCTCCCC CCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCTTCCTCCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCCTCCCCCCTTCCTCCCCCCTCTTCCTCTTC CTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCC TCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTC CTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCT CCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0108 a0001c0002t0108	a0001c0002t0108g0249 a0001c0002t0108g0249	1	2	0.5000	860	c.162 others(881): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCTCTCTCCTCCCCCTCT TCTCCTCCTCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCC CCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCC TCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCTTCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCTCCCCTCTTCCTCCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCCTCCCCCC TTCCTCCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCT CCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTC CTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCT CCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCC CCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(853): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGGTGCAGTTTATAGATG ATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGA CAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGATGCAGTTTA TAGATGATATGGGGGTGGGGACATGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGG CGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTT ATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGG GGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTG TAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAAT ATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGG GGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTAT AGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGG GGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGAGGG TGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATA ATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGG GTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	13	0.0769	860	c.109 others(879): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGGTGC AGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATA TGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGG GGATGCAGTTTATAGATGATATGGGGGTGGGGACATGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAG TTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATG GAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGG AGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATA GATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGG CGGGGCAGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGC AGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAA TATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(853): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	348	0.0029	860	c.51+ others(875): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTAGTATACATACTACATGATATACATAGTAT GTAGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287216	T T	TACTATGT others(853): Show TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	329	0.0030	860	c.51+ others(875): Show c.51+2145_51+2146insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CYSLTR1_chrX_78266468_78332611	78269606	A A	AATACAGA others(853): Show AATACAGAACATATATTATATATAATATATATAAATACAGAATATATATT ATATATAATATATAAATATAGAATATATATTATATATAAATATAGAATAT ATATTATATATAATATTAAATATAGAATATATATTATATATTATATATAA ATATAGAATATATATTATATTATATATAATATAGAATATATATTATATAT GATATATATAAATATAGAATATATATTATATATTATATATAATATAGAAT ATAGAATATATATTATATATTATATATAATATATATTATATATAATATAG AATATAGAATATATATTATATATAATATAGAATATAGAATATATATTATA TATAATATAGAATATAGAATATATATTATATATAATATAGAATATAGAAT ATATATTATGTATATATAATATAGAATGTATATTCTATATTATATATAAT ATAGAATATATAATATATTTATATATAATATAGAATATATTCTATATAAT ATAGAATATATAACATATTATATATAAATATAATATATATTCTATATTTA ATAGAATATATAATATACATTCTATATTTATCTAGAATATATAATATATT CTATATAAATATGGAATATATATTATATATTCTATATTTATATAGAATAT ATAATATATTCTATATAATATATATTCTATATATATATAGAATATATTCT ATATATATATAGAATATATATTATATATATAGAAAATATATTATATATTC TATATTTATATATAATATATATATTATATTCTATATTTATATAGAATATA AATATATAATATATAATATTTGTATATGTACTATATATTATATAATATAT ATAATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	57	0.0175	860	c.31 others(871): Show c.3126_*3127insATATGTATTATATATATTATATAATATATAGTAC ATATACAAATATTATATATTATATATTTATATTCTATATAAATATAGAAT ATAATATATATATTATATATAAATATAGAATATATAATATATTTTCTATA TATATAATATATATTCTATATATATATAGAATATATTCTATATATATATA GAATATATATTATATAGAATATATTATATATTCTATATAAATATAGAATA TATAATATATATTCCATATTTATATAGAATATATTATATATTCTAGATAA ATATAGAATGTATATTATATATTCTATTAAATATAGAATATATATTATAT TTATATATAATATGTTATATATTCTATATTATATAGAATATATTCTATAT TATATATAAATATATTATATATTCTATATTATATATAATATAGAATATAC ATTCTATATTATATATACATAATATATATTCTATATTCTATATTATATAT AATATATATTCTATATTCTATATTATATATAATATATATTCTATATTCTA TATTATATATAATATATATTCTATATTCTATATTATATATAATATATATT ATATATAATATATAATATATATTCTATATTCTATATTATATATAATATAT AATATATATTCTATATTTATATATATCATATATAATATATATTCTATATT ATATATAATATAATATATATTCTATATTTATATATAATATATAATATATA TTCTATATTTAATATTATATATAATATATATTCTATATTTATATATAATA TATATTCTATATTTATATATTATATATAATATATATTCTGTATTTATATA TATTATATATAATATATGTTCTGTAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		1861		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(853): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGGGGAGGGGAGGGGGGGAGGGGGAGGG GGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGG GGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGA GGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGG GAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGG GGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0214 a0001c0001t0025g0214	1	97	0.0103	860	c.923 others(879): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCC CCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTC CCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(853): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTGGATG GATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGGTGGATGGA CGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGATGGATGCAGAGGTGG GTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGGT GGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATGG ATGCATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGATGGACAGAA GGATGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATGAATGGGGAG GTGGATGGATGGATGGATGGATGAAGGATGGATGGGTGGGGAGGTGGGTG GACGGATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGGACAGAAGGA TGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGATGGGGAGGTG GATGGATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGGATGGACAGA AGGATGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGATGGGGAGATG GATGGATGGATAGAGAGAAGGATGGATGGGTGGGACAATGGATGGATGGA TGGATAGAAGGATGGACGGGTGGGGAGATGGATGGATGGATGGATGGATG GATGGACAGAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	102	0.0098	860	c.772 others(875): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCC ACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCAT CCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCAT CCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCC ATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCCACCCAT CCATCCTTCATCCATCCATCCATCCATCCACCTCCCCATTCATCCATCCA CCCACTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATC CACCCACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCATCCA CCCACCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCCCACC CATCCATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCATCAT CCATCCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATCCACCC ACCCACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCATCCAT CCATCCATCTATCCATCTATCCATCTCTCCGTCCATCCACCCACCCACCC ACCCACCTCCCCACCCATCCATCCTTCTATCCATCCACCCATCCATCCAT CCATCCATCCATCCCTCCCCATCCATCCATCCATCTCCCTACCCATTCAT CCTTCTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(853): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTGGATG GATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGGTGGATGGA CGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTG GGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGAGGTGGGTGGGT GGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATGG ATGCATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGATGGACAGAA GGATGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATGAATGGGGAG GTGGATGGATGGATGGATGGATGAAGGATGGATGGGTGGGGAGGTGGGTG GACGGATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGGACAGAAGGA TGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGATGGGGAGGTG GATGGATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGGATGGACAGA AGGATGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGATGGGGAGATG GATGGATGGATAGAGAGAAGGATGGATGGGTGGGACAATGGATGGATGGA TGGATAGAAGGATGGACGGGTGGGGAGATGGATGGATGGATGGATGGATG GATGGACAGAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0179 a0001c0003t0001g0179	1	102	0.0098	860	c.772 others(875): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCC ACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCAT CCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCAT CCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCC ATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCCACCCAT CCATCCTTCATCCATCCATCCATCCATCCACCTCCCCATTCATCCATCCA CCCACTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATC CACCCACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCATCCA CCCACCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCCACCC ATCCATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCATCCAT CCATCCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATCCACCC ACCCACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCATCCAT CCATCCATCTATCCATCTATCCATCTCTCCGTCCATCCACCCACCCACCC ACCCACCTCCCCACCCATCCATCCTTCTATCCATCCACCCATCCATCCAT CCATCCATCCATCCCTCCCCATCCATCCATCCATCTCCCTACCCATTCAT CCTTCTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
GAD1_chr2_170811887_170866151	170828105	G G	GTCCTCAC others(853): Show GTCCTCACCCTCCTCCCTCTGCTGTCCTCGCCCTCCTCTCTCTGCTGTCC TCACCTCTCCTCTCTCTGCTATCCTCACCCCTCCTCTTTCTGCTGTCCTC ACCCCTCCTCTCTCTGCTGTCCTCACCCCTCCCCTTCCCTCTGCTGTCCT CACCCTCCTCCCTCTGCTGTCCTCACCCTCTTCCCTCTGCTGTCATCTTC CTCCCTCTGCTGTCCTCATCCCCTTCCCTCTGCTGTCCTCACCCTCCTCC CTCTGCTGTCCCCACCCTCCTCCCTCTGCTGTCCTCACCCCTCCTCTTCC CTCCGCGGTCCTCGCTGTCCTCCCTCTGCTGTCCTTGATCTCCTCCCTCT GCTGTCCTTGATCTCCTCCCTCTGCTGTCCTTGCTCTCCTCCCTCTGCTG TCCTCACCCTCCTACCTCTGCTGTCCTCACCGTCCTCCTCTGCTGTCCTC ACCCCTCCTCTTCCCTCTGTTGTCCTTGCCCTCCTCCCTCTGCTGTCCTC ACCCTCCTCCCTCTGCTGTCCTCACCCTCCTCCCCTGTTGTCCTCACCCT CCTCCTCTGTTGTCCACACCCTTCTCCCTCTGCTGTCCTCACCCTCCTCC CTCTGCTGTCCTCGCCCTCCTACCTCTGCTGTCCTCACCCTCCTCCCTCT GCTGTCCTCACCCCTCCTCTTCCCTCTGCCGTCCTCACCTCTCCTCCCTC TGCTGTCCTCGCCTTCCTCCCTCTGCGGTCCTTGCTCTCCTCCCTCTGTG GTCCTCACTCTCCTTCCTCTGCTGTCCTCACCCCTCCTCATCTCTCTGCT GTCCTCACCTCTCCTCCCTCTGCTATCCTCATCTTCCTCCCTCAGCTGTC CTCACCTCTCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0348 a0001c0001t0004g0348	1	169	0.0059	860	c.146 others(877): Show c.146-1365_146-1364insACCCTCCTCCCTCTGCTGTCCTCGCCCT CCTCTCTCTGCTGTCCTCACCTCTCCTCTCTCTGCTATCCTCACCCCTCC TCTTTCTGCTGTCCTCACCCCTCCTCTCTCTGCTGTCCTCACCCCTCCCC TTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCACCCTCTTCC CTCTGCTGTCATCTTCCTCCCTCTGCTGTCCTCATCCCCTTCCCTCTGCT GTCCTCACCCTCCTCCCTCTGCTGTCCCCACCCTCCTCCCTCTGCTGTCC TCACCCCTCCTCTTCCCTCCGCGGTCCTCGCTGTCCTCCCTCTGCTGTCC TTGATCTCCTCCCTCTGCTGTCCTTGATCTCCTCCCTCTGCTGTCCTTGC TCTCCTCCCTCTGCTGTCCTCACCCTCCTACCTCTGCTGTCCTCACCGTC CTCCTCTGCTGTCCTCACCCCTCCTCTTCCCTCTGTTGTCCTTGCCCTCC TCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCACCCTCCTCCC CTGTTGTCCTCACCCTCCTCCTCTGTTGTCCACACCCTTCTCCCTCTGCT GTCCTCACCCTCCTCCCTCTGCTGTCCTCGCCCTCCTACCTCTGCTGTCC TCACCCTCCTCCCTCTGCTGTCCTCACCCCTCCTCTTCCCTCTGCCGTCC TCACCTCTCCTCCCTCTGCTGTCCTCGCCTTCCTCCCTCTGCGGTCCTTG CTCTCCTCCCTCTGTGGTCCTCACTCTCCTTCCTCTGCTGTCCTCACCCC TCCTCATCTCTCTGCTGTCCTCACCTCTCCTCCCTCTGCTATCCTCATCT TCCTCCCTCAGCTGTCCTCACCTCTCCTCCTC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(853): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC TCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTC CCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	860	c.31 others(871): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGG GGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGC GGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCA CGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GPRIN1_chr5_176590802_176615156	176591775	G G	GTTGTGAT others(853): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA19012.hp1 NA19059.hp1 NA18974.hp2 NA19012.hp1 NA19059.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	3	211	0.0142	860	c.50 others(871): Show c.5032_*5033insTCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAAC ACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTC AACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCAC CTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCAC AACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCAT CACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAT CATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACAC CATCATCACCACCATCACCATCACAA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4026		chr5	TogoVar
HBQ1_chr16_175459_186179	186136	G G	GGAGGAAC others(853): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACG GAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACG GAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	304	0.0033	860	c.50 others(871): Show c.5028_*5029insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACG GAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG AGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4958		chr16	TogoVar
IFFO2_chr1_18899280_18961676	18925812	A A	ATGGATGG others(853): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0356 a0001c0001t0002g0357	2	355	0.0056	860	c.666 others(877): Show c.666-4692_666-4691insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322329	T T	TGGAATAT others(853): Show TGGAATATATATATGCAGTATATATATATGAATATATATATGGAATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATATGTGGA ATATATATATGGAATATATATATATGTGGAATATATATATGGAATATATA TATATGTGGAATATATATATGGAATATATATATATGTGGAATATATATAT GGAATATATATATGGAATATATACATGGAATATATGTATATGGAATATAT ACATGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGA ATATATACATGGAATATGTGTATATGGAATATATACATGGAATATATATA TGGAATATATACATGGAATATATATATGGAATATATACATGGAATATATA TATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAA TATATATATATGGAATATATACATGGAATATATATATATAGAATATATAC ATGGAATATATATATGGAATATATACATGGAATATATATATATGGAATAT ATACATGGAATATATATATATGGAATATATACATGGAACATATACATGGA ATATATACATGGAACATATACATGGAATATATACATGGAACATATACATG GAATATATATATATGGAACATATACGGAATATATATATGGAATATATATA CGGAATATATATATATGGAATATATATACGGAATATATATATGGAATATA TATACGGAATATATATATATGGAATATATATACGGAATATATATATATGG AATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	314	0.0032	860	c.-27 others(871): Show c.-2727_-2726insGGAATATATATATGCAGTATATATATATGAATAT ATATATGGAATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATATGTGGAATATATATATGGAATATATATATATGTGGAATATA TATATGGAATATATATATATGTGGAATATATATATGGAATATATATATAT GTGGAATATATATATGGAATATATATATGGAATATATACATGGAATATAT GTATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGA ATATGTGTATATGGAATATATACATGGAATATGTGTATATGGAATATATA CATGGAATATATATATGGAATATATACATGGAATATATATATGGAATATA TACATGGAATATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAATATATATATATGGAATATATACATGGAATATATAT ATATAGAATATATACATGGAATATATATATGGAATATATACATGGAATAT ATATATATGGAATATATACATGGAATATATATATATGGAATATATACATG GAACATATACATGGAATATATACATGGAACATATACATGGAATATATACA TGGAACATATACATGGAATATATATATATGGAACATATACGGAATATATA TATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATA TATATATGGAATATATATACGGAATATATATATATGGAATATATATACGG AATATATATATATGGAATATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2640		chr21	TogoVar
KDSR_chr18_63322726_63372206	63361017	A A	ATATATAT others(853): Show ATATATATATATAAAATATATATATAATATATAATATATATAATAAAAAT ATATATTTTATATATATATAATATATAATATATATAATAAAAATATATAT TTTATATATATATAATATATAATATATATAATAAAAATATATATTTTATA TATATATAATATATAATATATATAATAAAAATATATATTTTATATATATA TAATATATAATATATATAATAAAAATATATATTTTATATATATATAATAT ATAATATATATAATAAAAATATATATTTTATATATATATAATATATAATA TATATAATAAAAATATATATTTTATATATATATAATATATAATATATATA ATAAAAATATATATTTTATATATATATAATATATAATATATATAATAAAA TATATATATTTTATATATATATAATATATAATATATATAATAAAAATATA TATTTTATATATATATAATATATAATATATATAATAAAAATATATATTTT ATATATATATAATATATAATATATATAATAAAAATATATATTTTATATAT ATATAATATATAATATATATAATAAAATATATATTTTATATATATATAAT ATATAATATATATAATAAAAATATATATTTTATATATATATAATATATAA TATATATAATAAAAATATATATTTTATATATATATAATATATAATATATA TAATAAAAATATATATTTTATATATATATAATATATAATATATATAATAA AAATATATATTTTATATATATATAATATATAATATATATAATAAAAATAT ATATTTTATATATATATAATATATAATATATATAATAAAAATATATATTT TATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0263 a0001c0002t0035g0263	1	49	0.0204	860	c.199 others(877): Show c.199-1226_199-1225insATATATATATAAAATATATATTTTTATT ATATATATTATATATTATATATATATAAAATATATATTTTTATTATATAT ATTATATATTATATATATATAAAATATATATTTTTATTATATATATTATA TATTATATATATATAAAATATATATTTTTATTATATATATTATATATTAT ATATATATAAAATATATATTTTTATTATATATATTATATATTATATATAT ATAAAATATATATTTTTATTATATATATTATATATTATATATATATAAAA TATATATTTTATTATATATATTATATATTATATATATATAAAATATATAT TTTTATTATATATATTATATATTATATATATATAAAATATATATTTTTAT TATATATATTATATATTATATATATATAAAATATATATTTTTATTATATA TATTATATATTATATATATATAAAATATATATATTTTATTATATATATTA TATATTATATATATATAAAATATATATTTTTATTATATATATTATATATT ATATATATATAAAATATATATTTTTATTATATATATTATATATTATATAT ATATAAAATATATATTTTTATTATATATATTATATATTATATATATATAA AATATATATTTTTATTATATATATTATATATTATATATATATAAAATATA TATTTTTATTATATATATTATATATTATATATATATAAAATATATATTTT TATTATATATATTATATATTATATATATATAAAATATATATTTTTATTAT ATATATTATATATTATATATATATAAAATATATATTTTTATTATATATAT TATATATTATATATATATTTTATATATATATA	KDSR	ENSG00000119537.18	transcript	ENST00000645214.2	protein_coding	2/9			chr18	TogoVar
KIF25_chr6_167992671_168050091	167997432	G G	GGGGGCGG others(853): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGTCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGG GGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGG CGGGGGAATCTGCAGAGGTGGGGGCGGGGGGAATCTGCAGAGATGGGGGG TGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGG GTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGGT GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0339 a0003c0004t0005g0339	1	370	0.0027	860	c.-20 others(871): Show c.-2037_-2036insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGGGA ATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGGAATC TGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAAT CTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCT GCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		238		chr6	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(853): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATATCCATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATCCA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATATC CATATATATATCCATATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATATCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0277 a0002c0002t0002g0277	1	207	0.0048	860	c.126 others(877): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATGG ATATATATATGGATATATATATATATGGATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATGGATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATGGATATATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124507236	G G	GGTAGACA others(853): Show GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGGTAGGGAGGA TTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGGGGA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	207	0.0048	860	c.624 others(877): Show c.624+9112_624+9113insACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATT TCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAG GTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAG GTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGG TGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT GTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTG GGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGT GGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGGTAGGGAGGATTTCAGGTGGGGAGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(853): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAGTCAC ATATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATAT AGTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAG TCATATATGTATATAAAACTATATACAGTCATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAA CTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATAGTCATATAT GTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTAT ATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATAT ATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATAT GTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTAAAA CTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACT ATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGT AAAACTATATACAGTTATGTATGTATGTAAAACTATATAGTTATGTATGT ATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTAT GTATGTATGTAAAACTATATACAGTTATGTATGTAAAACTATATACAGTT ATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	170	0.0059	860	c.-30 others(871): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTA TATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATATG TATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATATG TATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCA TATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAAC TATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATA AAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTATATA AAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAA ACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATA GTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACA GTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTA TATAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAA ACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTA AAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LRRC24_chr8_144517388_144532033	144531192	G G	GAGCAGCA others(853): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAA GGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01934.hp2 HG01993.hp1 HG00408.hp2 HG01934.hp2 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	3	378	0.0079	860	c.-42 others(871): Show c.-4293_-4292insTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCC GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4160		chr8	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(853): Show GGAGTGAGAGAAGGGGGGAGGAGGAGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCA GTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGA GGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGA GGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGG CGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTG AGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0196 a0004c0006t0001g0196	1	173	0.0058	860	c.641 others(875): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCT TTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTC CCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCAC TCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCT CCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCT CCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCC CCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCC TTTTCCTCCTCCTCCCCCCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(853): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAA TAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATAAAATAAGATTTTATATATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATAT ATAAAATATATATAAAATCTTATTTTATATATATTTTATATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATTTTATATAT ATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0287 a0001c0001t0007g0287	1	210	0.0048	860	c.-5+ others(875): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATATAAAATCTTATTTTATATATATAAAATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATAAAATAAGATTTTATATATATAAAATATATATAAAGTAA GATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATATAA AATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATAAAAAATATATATCAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(853): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGATGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCAC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGA GGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAA GGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGA GGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGA GGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0119 a0119	a0119c0135 a0119c0135	a0119c0135t0013 a0119c0135t0013	a0119c0135t0013g0183 a0119c0135t0013g0183	1	130	0.0077	860	c.148 others(879): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCG CTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCC CAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCAT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGC TGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(853): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGG GTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGA GTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG AGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0039 a0001c0005t0002g0039	1	206	0.0049	860	c.140 others(877): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTG CCCCGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NUP93_chr16_56725129_56855286	56739516	C C	CGGGGGGG others(853): Show CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACTTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0181 a0001c0004t0019g0181	1	370	0.0027	860	c.-14 others(877): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACTTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG ACAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739517	G G	GGGGGGGC others(853): Show GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	290	0.0034	860	c.-14 others(877): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGTAGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739517	G G	GGGGGGGC others(853): Show GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGTA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0284 a0001c0003t0042g0284	1	290	0.0034	860	c.-14 others(877): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGTAGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739517	G G	GGGGGGGC others(853): Show GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGTA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	290	0.0034	860	c.-14 others(877): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGTAGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739517	G G	GGGGGGGC others(853): Show GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGTA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19000.hp2 NA19090.hp1 NA18981.hp2 NA19000.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0008 a0001c0003 a0002c0008	a0001c0003t0002 a0002c0008t0002 a0001c0003t0002 a0002c0008t0002	a0001c0003t0002g0285 a0001c0003t0002g0294 a0002c0008t0002g0299 a0001c0003t0002g0285 a0001c0003t0002g0294 a0002c0008t0002g0299	3	292	0.0103	860	c.-14 others(877): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGGCCGACATCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGTAGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739517	G G	GGGGGGGC others(853): Show GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG02300.hp1 others(1): Show HG00544.hp2 HG00673.hp1 HG02300.hp1 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0009 a0001c0003t0002 a0001c0006t0009	a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 others(1): Show a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 a0001c0006t0009g0251	4	293	0.0137	860	c.-14 others(877): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGTAGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739527	A A	ACTCCCCC others(853): Show ACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTA GGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00438.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0326 a0001c0001t0001g0327	2	347	0.0058	860	c.-14 others(877): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGTAGGGGGGCTGACC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739527	A A	ACTCCCCC others(853): Show ACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTC CCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0044 a0001c0004t0044	a0001c0004t0044g0179 a0001c0004t0044g0179	1	346	0.0029	860	c.-14 others(877): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG ACAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739527	A A	ACTCCCCC others(853): Show ACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTA GGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02109.hp2 HG03139.hp1 HG01169.hp1 HG02109.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0003t0020 a0001c0006t0009 a0001c0003t0002 a0001c0003t0020 a0001c0006t0009	a0001c0003t0002g0280 a0001c0003t0020g0281 a0001c0006t0009g0247 a0001c0003t0002g0280 a0001c0003t0020g0281 a0001c0006t0009g0247	3	348	0.0086	860	c.-14 others(877): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGTAGGGGGGCTGACC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(853): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	218	0.0046	860	c.129 others(877): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCTCCT others(853): Show TCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCT CCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTC TCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	228	0.0044	860	c.306 others(879): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTC TCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTT CTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTTCCTCTCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(853): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGATGG TGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGAT AATGATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGA TGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGAT GATGGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGA TGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATGATAGTG ATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGT GATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGC AGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0047 a0002c0030t0047	a0002c0030t0047g0206 a0002c0030t0047g0206	1	70	0.0143	860	c.438 others(879): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGA TGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGT GGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGG TGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGATGGTGGTG GTGGTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGT GATGGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGA TGATGGTGATGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATG ATGGTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGAT GATGGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGA TGATGATGGCATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(853): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGAT AATGATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGA TGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTG ATGATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGAT GATGGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGA TGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATGATAGTG ATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGT GATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGC AGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02809.hp2 HG02922.hp1 others(2): Show HG01123.hp2 HG02809.hp2 HG02922.hp1 HG03195.hp2 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0005c0024 a0006c0019	a0001c0001t0082 a0001c0004t0010 a0002c0003t0004 others(2): Show a0001c0001t0082 a0001c0004t0010 a0002c0003t0004 a0005c0024t0007 a0006c0019t0002	a0001c0001t0082g0067 a0001c0004t0010g0130 a0002c0003t0004g0068 others(2): Show a0001c0001t0082g0067 a0001c0004t0010g0130 a0002c0003t0004g0068 a0005c0024t0007g0173 a0006c0019t0002g0028	5	74	0.0676	860	c.438 others(879): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGA TGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGT GGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGG TGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGATGGTGGTG GTGGTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGT GATGGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGA TGATGGTGATGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATG ATGGTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGAT GATGGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGA TGATGATGGCATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106681	A A	AACTCTCA others(853): Show AACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCA GGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACAC GTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGAC CTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTG GGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCC CTCCAGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCA GCAAGCCCCTCCAGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGT AACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCA GGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACG TGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGAC CTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGG GCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCC CTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCA GCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGT GACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACC AGGCCAGGTAACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACA CGTGTCACCAGGCCAGGTAACTCTTCAGCAGGCCCCTCCACACGTGTCAC CAGGCCAGGTG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	234	0.0043	860	c.335 others(879): Show c.335-28544_335-28543insCACGTGTCACCAGGCCAGGTGACTCT TCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCA CCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCA TGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAG GACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCAG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGC CCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAG GTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCA CCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCAC ACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAG GACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAG CCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTC TTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCC AGGTAACTCTTCAGCAGGCCCCTCCACACGTGTCACCAGGCCAGGTGACT CTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABL6_chr9_136802948_136846187	136803215	G G	GGGGGCCC others(853): Show GGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCC CTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	275	0.0036	860	c.-49 others(871): Show c.-4982_-4981insGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCAGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4732		chr9	TogoVar
RBPMS_chr8_30379541_30577256	30388407	T T	TTATAGCT others(853): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	295	0.0034	860	c.66+ others(875): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(853): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	253	0.0040	860	c.66+ others(875): Show c.66+3432_66+3433insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(853): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04204.hp1 HG01099.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0289 a0001c0001t0001g0193 a0001c0001t0001g0289	2	254	0.0079	860	c.66+ others(875): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388469	T T	TTATAGCT others(853): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	267	0.0037	860	c.66+ others(875): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(853): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	240	0.0042	860	c.66+ others(875): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar

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