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
ADARB2_chr10_1172313_1742525	1235645	CCTCCCGG others(956): Show CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTG ATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCAC CACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTGCT GTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGCCA GTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCT GAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGG CCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACG GCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCA GCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGT GAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGA ACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC ACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCC AGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTG TTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCT GCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGG TGTTTACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02897.hp2 others(1): Show HG02145.hp1 HG02258.hp2 HG02897.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0029 a0001c0001t0050 others(1): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0050 a0002c0002t0005	a0001c0001t0001g0069 a0001c0001t0029g0031 a0001c0001t0050g0077 others(1): Show a0001c0001t0001g0069 a0001c0001t0029g0031 a0001c0001t0050g0077 a0002c0002t0005g0028	4	97	0.0412	-963	c.136 others(19): Show c.1362-2763_1362-1801del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235661	CCCCTCTC others(955): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGC CCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACC ATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTAT CTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCA TACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTG TGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACC AGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATC CAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGA ATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGC AGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCAT TTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCC CGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCC GGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAG TTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACC AGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGG CGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCT CCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	103	0.0097	-962	c.136 others(19): Show c.1362-2778_1362-1817del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235709	CCCTGTGT others(955): Show CCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGG GCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCA CCATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCT ATCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGC CATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTG TGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCA CCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCA TCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGT GAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGA GCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGC ATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTC CCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA20129.hp2 NA18995.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0003 a0002c0014t0008 a0001c0001t0003 a0002c0014t0008	a0001c0001t0003g0085 a0002c0014t0008g0060 a0001c0001t0003g0085 a0002c0014t0008g0060	2	96	0.0208	-962	c.136 others(19): Show c.1362-2826_1362-1865del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	83003718	CTCCGCAT others(955): Show CTCCGCATGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGA GCCCACCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCC CTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGC CCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGC GTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCATGTGGGATTCCTG AGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCA CTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCG CGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGG GATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCG CCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCC GCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCC GCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGATTCC TGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCC GCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTC TGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGT GGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTC CTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCATGTGGGATTCCTGAGCT CGCCCTCCCACCCTCCGCACTCCGCGTGTGGGATTCCTGAGCTCGCCCTC CCACCCTCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	247	0.0040	-962	c.459 others(16): Show c.459+435_459+1396del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(955): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTT AGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCC TGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp1 HG03516.hp2 HG02976.hp2 HG03453.hp1 HG03516.hp2	a0002 a0012 a0002 a0012	a0002c0001 a0002c0004 a0012c0038 a0002c0001 a0002c0004 a0012c0038	a0002c0001t0005 a0002c0004t0001 a0012c0038t0002 a0002c0001t0005 a0002c0004t0001 a0012c0038t0002	a0002c0001t0005g0231 a0002c0004t0001g0206 a0012c0038t0002g0230 a0002c0001t0005g0231 a0002c0004t0001g0206 a0012c0038t0002g0230	3	97	0.0309	-962	c.226 others(19): Show c.2267+4773_2268-4042del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNG7_chr19_53904278_53948950	53920698	GCTCCAGG others(955): Show GCTCCAGGTCTGGTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGT GGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATT GGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGT CATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGC TGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAG GCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCC AGGCCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGTTG TCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA GTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTG GAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATT GGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCTCAGGTCTGGT CATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGCT GGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCA GGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCC CCAGGTCTGGTATTGCTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGT TGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGG AGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGG TGGAGTCGTCCCCAGGTCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGT CATTGGTGGACTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG01884.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0036 a0001c0001t0003g0037	2	356	0.0056	-962	c.424 others(17): Show c.424+5194_424+6155del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920326	CCAGGTCT others(954): Show CCAGGTCTGGTCATTGGTGGAGTTTCCCCAGGTCTGGTCATTGGTGGAGT TGCCTCAGGTCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTG GACTTGCCCCAGGCCGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATT GGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTC ATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCT GGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCAGG TCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCC AGGTCTGGTCATTGGTGGACTTGCTCCAGGTCTGGTCATTGGTGGAGCTG TCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAG TTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGG AGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTG GTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGT CATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTG GTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGC TGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGACTTGCCCCA GGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGC CCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACT TGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGG AGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTG GTGGAGTTGCCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	364	0.0027	-961	c.424 others(17): Show c.424+4842_424+5802del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDK11A_chr1_1697379_1729357	1725693	CCTGTGAC others(954): Show CCTGTGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTTTTTATT TTCGGTAGAGACGGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCC TGACCTCGTGATCAGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCTGGCCTCCCCCAAGCTCTTAATGTTGCTTCCTGA GTTCTTGGTAACTGGGGAAATCTCCCTATTTTTTTATTTTTATTTTTTTT TGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATC TCGGCTCACTGCAAGCCCCACCTCCCGGGTTCAACGCCATTATCCTGCGA GCCTCAGCCTGCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCTG GCTAATTTTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACTGTGTTCGC CAGGATGGTCTCGATCTCCTTACCTTGTGATTCGCCCGCCTTGGCCTCCC AGAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTAGCTATTTTTATTT TTTCTGATAGGGAGACTCGCTCTGGCCCAGGCTGGAGGGCAGTGGCGGGA TCTCCGCTCATTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCC TCCACTCCATTCTCCCATCTTAGGCTCCAGAGTAGCTGGGCCACCATGCC CGGCTAATTTTTTGTATTTTTAGTTGAGACCGGGTTTCACTGTGTTAGCC AGGATGGTCTTGATCTCGTGACCTCGTGATCTGCCTGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACAGCACCCTGCCCTTTTTTTTGA GAAATAAGTCTCACTGTGTCACCCAGGCTGGAGTAGAGTGACACAATTTT GGGTAACTGCAGCTTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0051 a0004c0009t0002g0051	1	370	0.0027	-961	c.-24 others(11): Show c.-2410_-1450del	CDK11A	ENSG00000008128.23	transcript	ENST00000404249.8	protein_coding		1337		chr1	TogoVar
DHRSX_chrX_2214506_2505976	2278993	AGAGGGAG others(954): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGG GAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAAAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0018 a0001c0001t0011g0018	1	47	0.0213	-961	c.388 others(19): Show c.388+11548_389-12047del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2279171	AGAGGGAG others(954): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGG AGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGA GAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAG GGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0027 a0003c0003t0005g0027	1	48	0.0208	-961	c.388 others(19): Show c.388+11370_389-12225del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
RIPK1_chr6_3063494_3120187	3090854	AGTACCTA others(954): Show AGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCA GCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCAC CTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAA CCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGC CGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCT AGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	296	0.0034	-961	c.915 others(17): Show c.915+1199_915+2159del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(953): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACA CTGTTCTTGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(94): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03492.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19064.hp1 NA19065.hp1 NA19079.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0042 a0001c0001t0046 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0003t0002 a0001c0010t0048	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0195 a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0005g0001 a0001c0001t0005g0099 a0001c0001t0005g0107 a0001c0001t0005g0210 a0001c0001t0005g0213 a0001c0001t0010g0150 a0001c0001t0010g0223 a0001c0001t0013g0105 a0001c0001t0013g0169 a0001c0001t0014g0089 a0001c0001t0014g0149 a0001c0001t0014g0168 a0001c0001t0018g0293 a0001c0001t0030g0152 a0001c0001t0032g0243 a0001c0001t0033g0170 a0001c0001t0039g0222 a0001c0001t0042g0275 a0001c0001t0046g0148 a0001c0001t0052g0115 a0001c0001t0055g0141 a0001c0001t0056g0142 a0001c0001t0059g0122 a0001c0001t0060g0123 a0001c0003t0002g0296 a0001c0003t0002g0297 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0010t0048g0231	97	296	0.3277	-960	c.454 others(17): Show c.454-3463_454-2504del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	166939	CTTCTTGA others(953): Show CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01981.hp1 others(3): Show HG00323.hp1 HG01106.hp1 HG01981.hp1 HG02083.hp2 NA19080.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0040 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0253 others(3): Show a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0253 a0001c0001t0010g0225 a0001c0001t0040g0126 a0001c0001t0041g0056	6	281	0.0214	-960	c.454 others(17): Show c.454-3695_454-2736del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	167131	GTTCTTGA others(953): Show GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	338	0.0030	-960	c.454 others(17): Show c.454-3887_454-2928del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DVL1_chr1_1330278_1354418	1350206	AGGAGCGA others(953): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG03098.hp2 HG03195.hp2 others(1): Show HG01099.hp1 HG03098.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0010t0001g0127	4	338	0.0118	-960	c.-21 others(11): Show c.-2101_-1142del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		789		chr1	TogoVar
KCNK13_chr14_90056994_90190853	90175885	GCCTGTCT others(953): Show GCCTGTCTCTCCAGCTGAGTGGTCACCCTTCTTACGTGGTGTCTAGGGGA TCCAGAGAGAGGAAGCTGAAGTTCCTAAGCTTCTGACAGCCTAAGCCTGG AACTAGTACAGCATCGCTCCCACCATATTCTGCTGGTCAGAGCAAGTCTC AGGGTCATCCAAGATTCAAGGAGAGAGGAAATAGGCTTCATCTCTTAATG GGAAAAACAGCAAGTGCTTACAAGGATGGGAGCAATTTGTTTGAAATCAT CTTTGGAACCTATGTACCACAAGCAACAGGAGGAGAGGAGAGAAGTCTGC ATTGCAGACATGGGATCTGAATTTAGCCAAGCCTCCACAACCTGTGAAGA TTGCCTGGCTTATTGAAGCTTCAGTTTCCCCACCGATAACTTGAAAAGCT TGGACTAGAATGTCATGAAGTCTGTCCAGCTTTGAGAGTTGTGGTTTCAT AATCCACATAAATACAATGGGCCCAGTGAGGACCCAGGGCCTCCTGCTGA TCTTCTAAGTCTTCCATCATTGAACCCACTTCCCATCCCCCACCTCACCC CTCAAGAATAATCCACAGGAGTCTGTTCTTGCCTCCTTTCTTCATCCCAG TTGACATTGGAGGGGCTTTTTACCAAAAAAAAAAAGTCTGCCAATTCTTT TGTAGTTTCATCCCACATGAGAAGGCTTAAACTGTTAGCATCAAAAAGAT TGTGGGAAAGTATATGCAAGTCAAGCTTTGGTTCCTCGGAGTATTGAGAA GAATGAATCAAGAGGTATGCTGCAGGTATCTGTGCAGGTGTTTGACTGCA ACTTGAGAAAACCTGCTGAGAAACATATTTTTCTCAGTTTAAAAATAATG AAAGAGGCCTGGCTCAGTGGCTCATGCCTGTAGTCCCAGCACTTTGGGAG GCCGAGGCAGGTGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAA CGTGGTGAAAC	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	318	0.0031	-960	c.335 others(17): Show c.335-8219_335-7260del	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
MUC4_chr3_195741771_195816929	195775620	TCATACCT others(953): Show TCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACACCGATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCATA CCTTCCACGGTCATACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACATCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACGGCCATAACTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACAGCCATACCTTCCACACCCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAT CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAG CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CACACCCATACCTTCCGCATCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCGCACCCATACCTTCCACACCCATACCTTCCGCACCCATA CCTTCCACACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00099.hp2 HG00140.hp1	a0027 a0028 a0027 a0028	a0027c0033 a0028c0034 a0027c0033 a0028c0034	a0027c0033t0002 a0028c0034t0002 a0027c0033t0002 a0028c0034t0002	a0027c0033t0002g0189 a0028c0034t0002g0193 a0027c0033t0002g0189 a0028c0034t0002g0193	2	209	0.0096	-960	c.129 others(21): Show c.12943+1723_12944-1316del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MXRA8_chr1_1347691_1363555	1350206	AGGAGCGA others(953): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCTGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG03098.hp1 HG03195.hp1 others(2): Show HG01099.hp2 HG03098.hp1 HG03195.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016	a0001c0001t0004g0031 a0001c0001t0005g0021 a0001c0001t0013g0033 others(1): Show a0001c0001t0004g0031 a0001c0001t0005g0021 a0001c0001t0013g0033 a0001c0001t0016g0032	5	331	0.0151	-960	c.24 others(11): Show c.2438_*3397del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2484		chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975849	GGCCCAGG others(953): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAA GCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02109.hp2 HG04228.hp2 HG00140.hp2 HG02109.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0073 a0001c0002t0001g0037 a0001c0002t0002g0061 a0001c0001t0002g0073 a0001c0002t0001g0037 a0001c0002t0002g0061	3	141	0.0213	-960	c.532 others(19): Show c.532-46872_532-45913del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TCF3_chr19_1604292_1657615	1627878	GGGGGTGA others(953): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGA GGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGA TGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGG ACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGAT GAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0196 a0001c0002t0029g0196	1	305	0.0033	-960	c.299 others(16): Show c.299-1412_299-453del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THEG_chr19_356747_381026	360056	CTTTGACT others(953): Show CTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGGCTCTCAGCAGGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTCT GACTCTGATGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACT GTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGT CGGCTGCTTTGACCGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCT CTCAGCAGGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTCTGACTCTGA TGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGT CGTTCCGACTCTGACGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGT TTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAG GAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCG TGGGCCCTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGA CTCTGACAGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTGT GGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAAGAGCATCG GCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCTCT CAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGACG GTCCCGTGGCCCCTCAGCAGGAGCATCGGCTGGTTTGACTGTGGCTGTCG TTCCGACTCCGACGGTCCCGTGGGCTCTCAGGAGGAGCGTCGGCTGGTTT GACTGTGGCTGTCGTTCCGACTCTGACAGTCCCGTGGGCCCTCAGGAGGA GCATCAGCTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0296 a0001c0001t0042g0296	1	368	0.0027	-960	c.11 others(11): Show c.1184_*2143del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1690		chr19	TogoVar
USP47_chr11_11836972_11966887	11854051	CGTGAACC others(953): Show CGTGAACCCAGAAGGTGGAGCTTGCAGTGAACCGAGATCGCACCACTGCA CTCCAGCTAGGGGGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAATCCTATCCAACCAGCAAAGTCCAGCCTGAAAATTCTCCTCTTTCAAC CTGATTGCATATTCTTAATCCTAAAATCCTACAGCACCTTTGGCATTTGA AAAATTCTGCTTCTTTATTATAAGTTATTTGTTATTTCAGTTAATACCTT CTATTAGATGGGAGGTTCCTCAGAGTCAGGACACTACAGCTGGAGTCCCT AGGTTCAAATACCAGCTGTCTGACATTGGACAAATTCCTTAACCTGTCAG TACCTTAGTTAATTAAGGATAATTCTAAGTACCTCCTAGCATTGGTGGGA AGATTAAATGAGTTAATACATGTAATGTGTCATGCACACAATAAGCTATC AATAGATATTAGCTATTACCACCTTCTGTTACTACCATCATTTCTATCAT TACCTTCATTTCTATATCCTCCCCCAGGGGCCATCACAATGTGCTGTACA TTGTTGTTATTCAACAAATATTTGTGGATTAAATGAAAATGAAATTATAT TTTAGTTATGCAAGTCATTTGAAGTTGACAGCTGATTACAGCCTGTCAGC TACTTATCTTAATGTCTACAGCACTAATCCTAAATTATTGTTAGATTTGA CAGGTTCTCTTATATGATCAAGTAAGACCTATTGTTACAGCTTTGAAAAT TGGAACACATAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCTGAAGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAAAAAAATTAGC CGGGTGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00609.hp2 others(49): Show HG00099.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp2 HG01361.hp2 HG02027.hp2 HG02071.hp1 HG02083.hp1 HG02155.hp2 HG02622.hp1 HG03654.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp1 NA18953.hp1 NA18954.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA19004.hp1 NA19005.hp1 NA19012.hp2 NA19060.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0015 a0006c0016 a0001c0004 a0001c0015 a0006c0016	a0001c0004t0005 a0001c0004t0006 a0001c0004t0026 others(3): Show a0001c0004t0005 a0001c0004t0006 a0001c0004t0026 a0001c0004t0049 a0001c0015t0005 a0006c0016t0005	a0001c0004t0005g0043 a0001c0004t0005g0044 a0001c0004t0005g0045 others(48): Show a0001c0004t0005g0043 a0001c0004t0005g0044 a0001c0004t0005g0045 a0001c0004t0005g0046 a0001c0004t0005g0047 a0001c0004t0005g0048 a0001c0004t0005g0072 a0001c0004t0005g0073 a0001c0004t0005g0074 a0001c0004t0005g0075 a0001c0004t0005g0076 a0001c0004t0005g0077 a0001c0004t0005g0078 a0001c0004t0005g0079 a0001c0004t0005g0080 a0001c0004t0005g0085 a0001c0004t0005g0086 a0001c0004t0005g0087 a0001c0004t0005g0090 a0001c0004t0005g0091 a0001c0004t0005g0097 a0001c0004t0005g0098 a0001c0004t0005g0099 a0001c0004t0005g0101 a0001c0004t0005g0103 a0001c0004t0005g0105 a0001c0004t0005g0106 a0001c0004t0005g0107 a0001c0004t0005g0108 a0001c0004t0005g0265 a0001c0004t0006g0003 a0001c0004t0006g0004 a0001c0004t0006g0049 a0001c0004t0006g0071 a0001c0004t0006g0081 a0001c0004t0006g0082 a0001c0004t0006g0088 a0001c0004t0006g0092 a0001c0004t0006g0093 a0001c0004t0006g0094 a0001c0004t0006g0095 a0001c0004t0006g0096 a0001c0004t0006g0100 a0001c0004t0006g0102 a0001c0004t0006g0104 a0001c0004t0006g0329 a0001c0004t0026g0004 a0001c0004t0026g0089 a0001c0004t0049g0084 a0001c0015t0005g0083 a0006c0016t0005g0109	52	384	0.1354	-960	c.39+ others(17): Show c.39+11836_39+12795del	USP47	ENSG00000170242.19	transcript	ENST00000527733.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
VAV2_chr9_133756894_133997324	133827187	GGGCTGAC others(953): Show GGGCTGACCACTGAGCATGGGCATCGCCAGCTACTGCTGTGCCCACTGGG GCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGC TGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTG ACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGAC CACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCA CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGG GCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCC AGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCAC CTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCT ACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTAC CGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTG CTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCT GCGCCCACTGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0098 a0001c0006t0009g0098	1	194	0.0052	-960	c.449 others(17): Show c.449+6125_449+7084del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827492	GGGGCATC others(953): Show GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACG GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATC GCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCA CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCA CTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGG GGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGG CTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCT GACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGA CCACTGACCAC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0198 a0002c0001t0001g0198	1	152	0.0066	-960	c.449 others(17): Show c.449+5820_449+6779del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
EPOP_chr17_38666703_38679957	38678998	TAGTAGTC others(952): Show TAGTAGTCTGTTGTAGGGATATGCCACATTTTGTTTATCCAATCACATTT GGGTGTTTTTCACTTTTTGGCTATTATCTATAATGCTGTTATGAACATTT GCTATACACGTCTTTTGTGAATATATGTTTTTATTTCTCCTAAGTAGACA TTTAAGGGTGGAATTGCTGGGTCATATGCTACATTTATGTTTAACCTTTT TTTTCTTTTTCTTTTTTTTTTGAGACAGGGTCTCACAGTCTCATTCAGGC TGGAGTGCAGTGGCACAGTCAGGGCTCACTGCAGCCTTGACCTCCTGGGC TCACGAGATCCTCTGCCTCAGCCTCCAGTGTGGCTGGGACCACAAGCCTG AGCCACCATGCCCAGCGAATTTCTTTTTAAATTTTTTTTGTAAGACAGGG TCTCGCTATATTCCCCAGGCTGGTCTCAAACTCCTCGGCTCAAGGGATTC TCCTGCCTCAGCCTCACAAAGGGCTGGGATTACAGGCATGAGCTACCATG CCCAGCTGTGTTTAATTCTTTTAAAAACTGCCAAGGTCGGGCATGGTAGC TCACACCTGTATTCCCAGCACTTTGGGAGGCCAAGGCAGGCTGATGGCTT GAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCCATCTC TACAAAATACAAAAATTAGCCGGGAGTGGTGGCATGTGCCTGTAGTCTCA GCTACTCAGAAGGCTGAGGGTGAGGAATTACTTGAGTCCAGCAGGTCAAG GCTGCAGTGAGCCACATTCATGCCATTCTGTGCCTGGGCGGCAGAGTGAG ACCCTGTCTCAAAACAAAACAAAACTAAACTAAAAACTGCAAGGCTGTTT TCCAAACGGGCTATTCCATTTTACATTCCTATTAATATCCATGATATAGG CTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGG TGGGCGGATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	350	0.0029	-959	c.-54 others(11): Show c.-5462_-4504del	EPOP	ENSG00000273604.2	transcript	ENST00000621654.2	protein_coding		4042		chr17	TogoVar
FOXQ1_chr6_1307098_1319758	1318799	CGGTGGCG others(952): Show CGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG ATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACC CCGTCACTACTAAAAATAAAAAATTAGCCGGGCGCGGTGGCGCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGA AGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAA TACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCT GACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGG CATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAA CCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAG GAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAA AATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCACT TTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAG CCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCC GGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCG GGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAG AAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCA CGCCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0017 a0004c0003t0017	a0004c0003t0017g0000 a0004c0003t0017g0000	1	402	0.0025	-959	c.48 others(11): Show c.4884_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4042		chr6	TogoVar
SLC66A2_chr18_79897420_79956653	79920887	GGAACCGA others(952): Show GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGT CAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAG GTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTC AGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGA GGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGA ACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAG GTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGA GGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACG GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAG ATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGG GAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGG AGAGACAGGA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18957.hp2 NA18983.hp2 others(4): Show NA18955.hp1 NA18957.hp2 NA18983.hp2 NA18990.hp1 NA19004.hp1 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0008 a0001c0001t0016	a0001c0001t0008g0196 a0001c0001t0008g0197 a0001c0001t0008g0198 others(3): Show a0001c0001t0008g0196 a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0001t0008g0199 a0001c0001t0008g0218 a0001c0001t0016g0006	7	334	0.0210	-959	c.392 others(17): Show c.392-2446_392-1488del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
ZC3H12D_chr6_149441795_149490014	149480791	GGAGGGGC others(952): Show GGAGGGGCAGGGAAGGCCAAGGAACTGTTGAAGAGAACTGAACTGCACAG TGAAAGGAGACTGGCTCTTCCAAGTGCGAAGAAGGGCCGTGTCACACTCC ACGCCATCATCACAGTCGGGCCCAACACACCCTCCAGGCTCTTGGCCACC TGCCTCCAGCCCAGCCTCACCTCCTCCCTGACTGGTGACCAGTCCTTCTC TCTCAGGACGGTTGTCCCCTCAGCTGAGGTCCACCTGCAGCCCAGACTCC ATAAAGGAAGGGGACACTCACCCAGCCTGACAGGCCAGCCTCTCACTGAG CCCAAAGGCTTCCAGTCAGGCTCTTCGCTCACCCAGAACATCTGCATCAC AGGCAAACCCCACAGCCACACCCCTCAGAAGCCTTCCCACCCCGACAGCC CCAGCCACCTCCATCCCTCCCCACGCAGGCACTGTGACGTTTGTTTTAAT TTGGAAGAAAAAGAAAGAAAGGAAGAGGGAGGAGATGTGGGAGAAAGAAA AGAGGGTGAGAACTAAGAGAGAGAAAGGACCAGAAGAAAGGAACAGGAGA CAGGAACAGAAAAGTTCACCTTCCTGTGGCTTAGCATTTTTTTTTTTTTT TAGAGGGAGAGTTTTGCTCTGTCGCCCAGGCTGGAGTGAAATGGTGCGAC CTCGGCTCACTGCAACCTCCACCTCCTGATTATCAACCGATTCTCCTGCC TCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCCAAGT AATTTTTGTATTTTAGTAGAGACGGGGTTTCACTGGGTAGGTCAAACTGG TCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGCCTCCCAAAGTG CTGGGATTACAGACGTGAGCCATGCTCCCGGCCATGGCTCAGCCTTTGTA TCCAAGGCCTTCCCGTTACACCTGGTGGGAAGATGGGGTAGATACAAGTG TTCCCTTCCC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02080.hp1 HG02602.hp2 others(8): Show HG01243.hp2 HG02080.hp1 HG02602.hp2 HG02683.hp1 HG02818.hp2 HG03017.hp1 HG03098.hp1 HG03942.hp2 HG04115.hp2 NA18978.hp1 NA19058.hp2	a0001 a0004 a0001 a0004	a0001c0015 a0004c0004 a0001c0015 a0004c0004	a0001c0015t0036 a0004c0004t0021 a0004c0004t0022 others(3): Show a0001c0015t0036 a0004c0004t0021 a0004c0004t0022 a0004c0004t0026 a0004c0004t0055 a0004c0004t0108	a0001c0015t0036g0120 a0001c0015t0036g0121 a0004c0004t0021g0117 others(7): Show a0001c0015t0036g0120 a0001c0015t0036g0121 a0004c0004t0021g0117 a0004c0004t0022g0118 a0004c0004t0022g0119 a0004c0004t0022g0123 a0004c0004t0026g0019 a0004c0004t0026g0116 a0004c0004t0055g0122 a0004c0004t0108g0354	11	410	0.0268	-959	c.-71 others(17): Show c.-71+3063_-71+4021del	ZC3H12D	ENSG00000178199.14	transcript	ENST00000409806.8	protein_coding	1/5			chr6	TogoVar
IGLL1_chr22_23568125_23585290	23581856	GGCCTCCC others(950): Show GGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGCCTGGCCCA TCTTGACCATTTTTAAGTACACAGTTCAGTGGCATTAACTACATTCACAA TGTCGTGCAACCATCACCACCATCCATTTCTAGATTTTTCTTTTTTCAGA GTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTAGCTCAT GGCAATCTCTTTCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTG AGTAGCTGGGATTACAGGCGCCCACCACCATGCCAGCTAATTTTTGTATT ATTAGTAGAGATGGGGTTTCAGCATGTTGGTCAGGCTGGTCTCAAACTCC TGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGTTTACAGG CGTGAGCCACCGCAACTGGCTTTTTCTTTTTTTTTTTTGAGACGGAGTCT CACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGTCTAGATCTTTTTCAT CTTGCAGAACTCAAATTCTGTCCCCATTCAACACCAACTTCCCATTCCTC CCTCCCCCAGCCCCTGGCACCCACCATGCTAGTTCCCATCTCTATATTTG GGTACTCTGGATACCTCCTATGGATGGGACCATACACTACTTGTCCTTTG AAAGTCCTTTTTAAACTGGAAAGTGCTGCATGTGTAATACCTTCAGGGGC TTATTATTATTATTATTATTATTATTTTGAGATGGAGTTTCACTCTGCTG CCCAGGCTGAAGTGCAATGGTGCTATCTCGGCTCACTGTGGCCTCTGCCT CCCGGGTTCGAGCAATTCTCCTGCTTCAGCCTCCCAGGCAGCTGGTCTAC AGGTGCCCGCCATCATGCTAAATTTTTGTGTTTCTAGTAGAGACGGGGTT TCACCATGTTGATCAGGCTGGTCCCGAACTCCTGATCTCAGGCGATCAGC CCACCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0180 a0005c0006t0001g0180	1	472	0.0021	-957	c.-26 others(11): Show c.-2623_-1667del	IGLL1	ENSG00000128322.7	transcript	ENST00000330377.3	protein_coding		1567		chr22	TogoVar
TAF4_chr20_61969798_62070881	62057664	CGGGGGGC others(950): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTC AGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCG GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGG AAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCA GGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAG GACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCC AACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCC ACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGAC GGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAAC CTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACA GACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGA CACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCT CAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGA CAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACAC AGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGC AAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAAT GGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01099.hp2 others(18): Show HG00735.hp2 HG00741.hp1 HG01099.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02257.hp1 HG02615.hp1 HG02647.hp2 HG02965.hp1 HG03130.hp2 HG03471.hp2 HG03540.hp1 NA18964.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0007 a0002c0020	a0001c0001t0001 a0001c0001t0010 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0002c0007t0001 a0002c0020t0001	a0001c0001t0001g0035 a0001c0001t0001g0080 a0001c0001t0001g0081 others(17): Show a0001c0001t0001g0035 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0010g0057 a0001c0003t0001g0045 a0001c0003t0001g0048 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0004t0001g0004 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0008t0001g0030 a0002c0007t0001g0018 a0002c0020t0001g0019	21	249	0.0843	-957	c.136 others(19): Show c.1360+5830_1360+6786del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
BCR_chr22_23175509_23323037	23234669	GGAAGGTG others(949): Show GGAAGGTGTGAGCCGAGGCCCAGAATGGAGCACCCAGGGGACCCAGGCTG ATCAGGTCGCAGCGAGCATGAGGGGACTGTGCGAAGCCATGAGCTCCAGA CTCCCCAGTCGTGGGCCCTGATGCGGGGGTGTGTGTGAGCTGGAGCCGTG GGACCAGGGCCGAACCCGTGTGCTGGACAGTCTTCGGGGCCCAGACACCA AGGGCCACCCGGAGCCTACAGGAAAGTTGGGGAGTAGAGGGGCATGTGTT GTATGGACAGAGCCCTACCATGCTTAGAGGAGTCAGGCTCCTCCCCCGAC TCTGTGGCCACACATTGTCCCTCACACTCTTGATTTCTCAGCCACAGTGA GGGTGAAAACCAGGGTCAGCTCGAGACTATGACCCAGTTCCCATTTCACC TCCTGGGTCTTCTCCAGGTTCTGTGGGGTTTTTTGTTTTGTTTTGTTTTT TTGAGATGGAGTCTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACG ATCTTGGCTCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGATTACAGGCATGCACCCAGCTAATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGCTGGCCAGACTGGTCTCGAACTCCTGACCTCAAGTG ATCCGCCTGCCTTGGCATCCCAAAGTGCTGAGATTACTAGTGTGAGCCAC CATGCCCGGCCTTCTCCAAGTTCCGAATTCCCTGAAAGCAGCTGTGCTGT TGCCCTGCCCTCTGGGGCACAATGTTAGGAGTAAGCAGCGTTTAAGTGCC TCCCTGATTAAGAGAAAGATGTATATTCCCACTGGGTGGCGAGGACATAG ATGTCCAGGCCCATGTGTTCCACGGCATAATGTGGGGACTGCAGAGAGGA AGGGACATGTTTATGTCCCAGGTGAGTCATGGAATCTCAGAATATGAGGG TGTGCAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00642.hp2 others(23): Show HG00280.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG02083.hp2 HG02451.hp2 HG02896.hp2 HG02897.hp2 HG03654.hp1 HG06807.hp2 NA18947.hp2 NA18986.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0002 a0001c0019 others(3): Show a0001c0001 a0001c0002 a0001c0019 a0002c0003 a0006c0039 a0008c0023	a0001c0001t0146 a0001c0001t0147 a0001c0001t0150 others(17): Show a0001c0001t0146 a0001c0001t0147 a0001c0001t0150 a0001c0001t0176 a0001c0001t0195 a0001c0002t0015 a0001c0002t0035 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0178 a0001c0002t0179 a0001c0002t0181 a0001c0002t0201 a0001c0002t0214 a0001c0019t0042 a0002c0003t0156 a0006c0039t0140 a0008c0023t0183	a0001c0001t0146g0187 a0001c0001t0147g0188 a0001c0001t0150g0183 others(22): Show a0001c0001t0146g0187 a0001c0001t0147g0188 a0001c0001t0150g0183 a0001c0001t0176g0289 a0001c0001t0195g0174 a0001c0002t0015g0137 a0001c0002t0035g0096 a0001c0002t0035g0179 a0001c0002t0037g0176 a0001c0002t0037g0177 a0001c0002t0038g0284 a0001c0002t0038g0285 a0001c0002t0039g0004 a0001c0002t0041g0170 a0001c0002t0041g0175 a0001c0002t0178g0181 a0001c0002t0179g0180 a0001c0002t0181g0182 a0001c0002t0201g0178 a0001c0002t0214g0138 a0001c0019t0042g0135 a0001c0019t0042g0136 a0002c0003t0156g0173 a0006c0039t0140g0102 a0008c0023t0183g0184	26	294	0.0884	-956	c.128 others(21): Show c.1280-19128_1280-18173del	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
DLGAP2_chr8_732628_1713476	1397118	TATTGAGT others(949): Show TATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTGCCTCCTCATCCTCCTGAGTCGAGTATTGAGT GCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCG TGTATTGATGTTTTTACTGAGCGTATCTCTTCATCCTCTCTTGAGTTGTT ATTGATGCGCTTACTGAGCTCTCCCCCTCTTGTCTCCGGATTCTGTTTTT TCACTGCTTATTTTGTCTTTCCTTCTTCCCTTTTTTAGGTGACTGGACTT TGGCAAAGTGAATGTATGTGTGTTGGAATGGGGCGTGTGTCTTTGTTAAA TGTGACGTTTCTGTTTTTTTTTTGAGACGGAGTCTCTGTGACTCTTTTTT TACAACTATTCCCCCCAAATGGAGACAGATCAGTTTTGCTCTAAATGTGA ATCCGAGGCCTCAGGAAGGCATTCGAGGTTTTCAGAACCTCCTTGTCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGA GTCGTGC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-956	c.107 others(21): Show c.107-104230_107-103275del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
LMBR1_chr7_156672791_156898183	156789852	AATTAACA others(949): Show AATTAACAATGACTATTTCTATAAAACTGTTTCATGAGTATTGGAGTAGT ATTACAGCCAGTTTAATTTAAAGTATAATTACTTTAAAATCTGTACTTGG TAACTTTCTGTTTCCTCTCTGCCAAAGCTTTTCTTCATTTAAACAGAGGC CTGAACTATCAAACATTATGAGACATTAGTTAGTAATTTAATCATCATAT AAAAGGGTTTGAAGTTTAGTTATCTATTAAACAAATACCTATTTTTTTAC AACCTATACTGTTCTAAAACAGATCCTATTTCAAAAAATAAAATAAAAGC TGAATATGTCAATACCAATGTAATTTTTCATGTCACTTTGCTGTTAGATA TAAAAAGTAATCCTACACAAGTTCTCCTGATGTTTCATCATCAGCTTTAA CATAGTTGGTGCATTTAAGCACCTAATAATAACTGCTATTTAAAATGTGT CTTGGGTACTTTACCAACCTTTTAGGTGAGGCTACTAAATCCCTCAGCAA CCCTGGTAGACAGGTACTGTTAGACTCATTTTATAAATGTGGACACAATG AAATATGCCCTAAGTCACAGTCAGTAAGAAGAGTGAAGATTGAAGTCCAG GTATTCTGAATTCCAAAGTTCACATTTTTTGCCACTGTTATGCAAATAAA GAGACAATCTAGCCTTTAAGTATAGAAATTTATCATTTTTCAATACTGAG AGGCAAAGATGAACATACTATATAGGGTTCAATTCAAAGTATACCATTAC AGTGTATATGGAAACTGAGTGATGTTTTTAAAAAAAGCTGTTACTTAACA GTAACAGATACTATAAAGCCATAATTTAGTGCCCTCCTAGATCCAACTGT ATTAAGAACAGTGACAAAATTAATGTCATTTCCTGAACTAAATGATTTTC AATTCAAAATTTTTATAACCTCTAATGATTTTTAAATGAAATAAATGTAT TTACTCT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0059 a0001c0001t0029 a0001c0001t0059	a0001c0001t0029g0006 a0001c0001t0059g0005 a0001c0001t0029g0006 a0001c0001t0059g0005	2	312	0.0064	-956	c.423 others(17): Show c.423+5581_423+6536del	LMBR1	ENSG00000105983.23	transcript	ENST00000353442.10	protein_coding	5/16			chr7	TogoVar
NUP210L_chr1_153987690_154160073	153988351	TGGCGCGA others(949): Show TGGCGCGATCTCGGTTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATT CTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCAC CCGGCTAATTTTTTGTATTTTAGGGAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTTTTGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCC AAAGTGCTGGGTTTACAGGCGTAAGCCACCGCGCCCGGCCTATTTTTATT TTTATTTTTTTAATTTTTATTGTTTATTTTGAGGTGGAGTTTCGCTCTTG TTGCGTAGGCTGGGGTGCAATGGTGTGATCTGGGCTAACCGCAGCTTCCG CCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCGCGAGTAGCTGAAA TTACAGACACCCGCACTACCCCCTGCTAATTTTGTATTTTTAGTAGAGAC GAGCTTTCTCCATGTTGGTCAGGCTGCTCTCGAACTCCCGACCTCAGGTG ATCCACCCACCTCTGCCTCCCAAAGGCCTGGGATTACAGGCGTGAGCCAC TGCGCCCAACCTTTGTTTTTACTTTTATTTTATTTTTTGAGACAAAGTTT TGCTCGTCACCCAGGCAGAAGTGCAATGGCTCAATCTCTGGTCACTGCAA CCTCCGCCTCTTGGGTTCAAGCGATTCTCCAGCCTCAGCTTCCCGAGTAG CTGGGATTACAGGCGCCTGCCACGACGCCCAGCTAAATTTTTTTTTTTTT TTTTTTTTTTTAGTCGAGACGGGGTTTCACCATGTTGGCCACGCTGGTCT CGAACTCCCGACGTCACGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTG GGATTACAGGCCTGAGCCACCGCGACCGGCAAAGAAAAAATTATTATTAT TATTATTATTATTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGCA GTGCAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01975.hp1 others(2): Show HG00741.hp1 HG01243.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043	5	288	0.0174	-956	c.35 others(11): Show c.3528_*4483del	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding		4338		chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6209995	GCCCGCCT others(949): Show GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTG CCCGGCCTAATACTTATCTTTTCTAATCACTGTGCCTTGCCAGGGAGGGT GATGAGGCGGGTGGGGGGTGTCTCTTTTTTGGTGGTAAAAAGGCCCATTG AGAAGAGAAGAAGAAACTGAGGGTCACAGAATTAGAAACATGAGATGTGC TGTGAGTTTTTAAAAGGGGCTGAGGTTGGAGAATAAGACAAAAAGATTTA GTAAGGATTTGTGATTACCCCATCTGTCCAAGACAGTGGTGGGTGTCTGA AGGGAGGGACAGGTGCAAACACCTCAGGCGCCCCTCTCTTTGTTTTTTTT TGTTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTGAGACGAAGTTTCGCT CTGTCACCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCAACATGGCCGGCTAATTTTTTGTGTTTTTAAT AGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAAT AGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAAT AGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAAT AGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAAT AGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAAT AGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAAT AGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAAT AGACGGGGTTTCGCCGTGTTAGCCAGGATAGTCTTGATCTCCTGACCTCA TGATCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(118): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02300.hp1 HG02486.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02970.hp2 HG03130.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18960.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19074.hp2 NA19078.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0069 a0001c0001t0074 a0001c0001t0077 a0001c0001t0082 a0001c0001t0085 a0001c0002t0010 a0001c0002t0088 a0001c0003t0001 a0001c0003t0004 a0001c0004t0002 a0001c0004t0014 a0001c0005t0001 a0001c0005t0005 a0001c0005t0033	a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0061 others(112): Show a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0086 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0161 a0001c0001t0002g0181 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0003g0002 a0001c0001t0003g0062 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0004g0008 a0001c0001t0004g0065 a0001c0001t0004g0074 a0001c0001t0004g0136 a0001c0001t0004g0143 a0001c0001t0004g0153 a0001c0001t0004g0199 a0001c0001t0004g0327 a0001c0001t0005g0091 a0001c0001t0005g0101 a0001c0001t0005g0127 a0001c0001t0005g0162 a0001c0001t0006g0126 a0001c0001t0006g0146 a0001c0001t0006g0160 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0007g0068 a0001c0001t0007g0148 a0001c0001t0008g0064 a0001c0001t0008g0067 a0001c0001t0008g0168 a0001c0001t0009g0059 a0001c0001t0009g0125 a0001c0001t0009g0193 a0001c0001t0010g0395 a0001c0001t0011g0166 a0001c0001t0011g0184 a0001c0001t0011g0195 a0001c0001t0012g0082 a0001c0001t0012g0131 a0001c0001t0012g0142 a0001c0001t0015g0198 a0001c0001t0015g0326 a0001c0001t0016g0060 a0001c0001t0017g0189 a0001c0001t0018g0055 a0001c0001t0018g0066 a0001c0001t0020g0167 a0001c0001t0023g0087 a0001c0001t0023g0173 a0001c0001t0023g0175 a0001c0001t0025g0112 a0001c0001t0025g0149 a0001c0001t0029g0029 a0001c0001t0031g0056 a0001c0001t0031g0076 a0001c0001t0032g0172 a0001c0001t0032g0178 a0001c0001t0033g0177 a0001c0001t0034g0174 a0001c0001t0034g0190 a0001c0001t0036g0081 a0001c0001t0037g0370 a0001c0001t0051g0179 a0001c0001t0052g0176 a0001c0001t0055g0182 a0001c0001t0057g0384 a0001c0001t0058g0057 a0001c0001t0059g0185 a0001c0001t0069g0024 a0001c0001t0074g0169 a0001c0001t0077g0140 a0001c0001t0082g0135 a0001c0001t0085g0134 a0001c0002t0010g0385 a0001c0002t0088g0272 a0001c0003t0001g0003 a0001c0003t0004g0071 a0001c0004t0002g0058 a0001c0004t0014g0391 a0001c0005t0001g0170 a0001c0005t0001g0187 a0001c0005t0005g0088 a0001c0005t0033g0180	121	430	0.2814	-956	c.77- others(15): Show c.77-3610_77-2655del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210016	TGCTGGGA others(949): Show TGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTAATACTTATCTTT TCTAATCACTGTGCCTTGCCAGGGAGGGTGATGAGGCGGGTGGGGGGTGT CTCTTTTTTGGTGGTAAAAAGGCCCATTGAGAAGAGAAGAAGAAACTGAG GGTCACAGAATTAGAAACATGAGATGTGCTGTGAGTTTTTAAAAGGGGCT GAGGTTGGAGAATAAGACAAAAAGATTTAGTAAGGATTTGTGATTACCCC ATCTGTCCAAGACAGTGGTGGGTGTCTGAAGGGAGGGACAGGTGCAAACA CCTCAGGCGCCCCTCTCTTTGTTTTTTTTTGTTTTTTTTTGTTTTTTTGT TTTTTTTTTTTTTGAGACGAAGTTTCGCTCTGTCACCCAGGCTGGAGTGC AGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAAC ATGGCCGGCTAATTTTTTGTGTTTTTAATAGACGGGGTTTCGCCATGTTA GCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTA GCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTA GCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTA GCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTA GCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTA GCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTA GCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTGTTA GCCAGGATAGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18953.hp2 NA18982.hp1 others(2): Show HG00621.hp1 NA18953.hp2 NA18982.hp1 NA19000.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0053	a0001c0001t0001g0090 a0001c0001t0001g0158 a0001c0001t0003g0157 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0158 a0001c0001t0003g0157 a0001c0001t0008g0262 a0001c0001t0053g0188	5	430	0.0116	-956	c.77- others(15): Show c.77-3573_77-2618del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
RAB13_chr1_153976650_153991339	153988351	TGGCGCGA others(949): Show TGGCGCGATCTCGGTTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATT CTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCAC CCGGCTAATTTTTTGTATTTTAGGGAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTTTTGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCC AAAGTGCTGGGTTTACAGGCGTAAGCCACCGCGCCCGGCCTATTTTTATT TTTATTTTTTTAATTTTTATTGTTTATTTTGAGGTGGAGTTTCGCTCTTG TTGCGTAGGCTGGGGTGCAATGGTGTGATCTGGGCTAACCGCAGCTTCCG CCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCGCGAGTAGCTGAAA TTACAGACACCCGCACTACCCCCTGCTAATTTTGTATTTTTAGTAGAGAC GAGCTTTCTCCATGTTGGTCAGGCTGCTCTCGAACTCCCGACCTCAGGTG ATCCACCCACCTCTGCCTCCCAAAGGCCTGGGATTACAGGCGTGAGCCAC TGCGCCCAACCTTTGTTTTTACTTTTATTTTATTTTTTGAGACAAAGTTT TGCTCGTCACCCAGGCAGAAGTGCAATGGCTCAATCTCTGGTCACTGCAA CCTCCGCCTCTTGGGTTCAAGCGATTCTCCAGCCTCAGCTTCCCGAGTAG CTGGGATTACAGGCGCCTGCCACGACGCCCAGCTAAATTTTTTTTTTTTT TTTTTTTTTTTAGTCGAGACGGGGTTTCACCATGTTGGCCACGCTGGTCT CGAACTCCCGACGTCACGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTG GGATTACAGGCCTGAGCCACCGCGACCGGCAAAGAAAAAATTATTATTAT TATTATTATTATTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGCA GTGCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01168.hp2 others(5): Show HG00099.hp2 HG00741.hp1 HG01168.hp2 HG01243.hp1 HG01884.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0017	8	406	0.0197	-956	c.-30 others(11): Show c.-3071_-2116del	RAB13	ENSG00000143545.10	transcript	ENST00000368575.5	protein_coding		2013		chr1	TogoVar
RPS27_chr1_153985762_153997155	153988351	TGGCGCGA others(949): Show TGGCGCGATCTCGGTTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATT CTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCAC CCGGCTAATTTTTTGTATTTTAGGGAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTTTTGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCC AAAGTGCTGGGTTTACAGGCGTAAGCCACCGCGCCCGGCCTATTTTTATT TTTATTTTTTTAATTTTTATTGTTTATTTTGAGGTGGAGTTTCGCTCTTG TTGCGTAGGCTGGGGTGCAATGGTGTGATCTGGGCTAACCGCAGCTTCCG CCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCGCGAGTAGCTGAAA TTACAGACACCCGCACTACCCCCTGCTAATTTTGTATTTTTAGTAGAGAC GAGCTTTCTCCATGTTGGTCAGGCTGCTCTCGAACTCCCGACCTCAGGTG ATCCACCCACCTCTGCCTCCCAAAGGCCTGGGATTACAGGCGTGAGCCAC TGCGCCCAACCTTTGTTTTTACTTTTATTTTATTTTTTGAGACAAAGTTT TGCTCGTCACCCAGGCAGAAGTGCAATGGCTCAATCTCTGGTCACTGCAA CCTCCGCCTCTTGGGTTCAAGCGATTCTCCAGCCTCAGCTTCCCGAGTAG CTGGGATTACAGGCGCCTGCCACGACGCCCAGCTAAATTTTTTTTTTTTT TTTTTTTTTTTAGTCGAGACGGGGTTTCACCATGTTGGCCACGCTGGTCT CGAACTCCCGACGTCACGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTG GGATTACAGGCCTGAGCCACCGCGACCGGCAAAGAAAAAATTATTATTAT TATTATTATTATTATTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGCA GTGCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01243.hp2 others(4): Show HG00741.hp1 HG01168.hp1 HG01243.hp2 HG01884.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	7	402	0.0174	-956	c.-24 others(11): Show c.-2445_-1490del	RPS27	ENSG00000177954.14	transcript	ENST00000651669.1	protein_coding		2410		chr1	TogoVar
UCMA_chr10_13216766_13239374	13233286	ACCTGTCT others(949): Show ACCTGTCTCCAAGTCATCTTTGCAGAGGTGGGGCCTCCTAACCCTGACAA AGTATTCAATCCAATATACGACCTACAGTCAGGAAATAGGGTGTAATTTC TCATTCAGAGCTGCAGTCCCTTTGATACCCTGGGGTGAGCCCTTCGTGCC CAGCTGCATCCTGCTGCCCGGCTGACTGTGGGAGAGGAGGAGCCGGGGGG TGTGAGCAGAGGTGGTGATGGACGCGGGATGGGGTCCCTCCAGCATCCTT ACCATTGACCTCATCTCTGGACTTGGGGGACCGCTTGCCGCGCCTCTTGA GGAAATTCGAGGCATCTGATTCCTGCATGAAAATCTTCTGTTTTGCATCT GAAACCCGGGAGAGGCCTGTCACCAGCAGTGTGGGGGTGCTGGGGCTGCT GCTTCGCTGGCTGCACCTGCCCTGCCCCGTGGGTGGCCCCTGCACTCACC TTCACTCGCCTCTTCTCCCGCCATCTGCATGGTGCCCACAGATACACTGG TTCCCTCTCTCAGCACTGCAGGACAAGGGCACAGAGTGAGGCTGCAGCAT CAGAGGGGAGCCCAGACCCTGAGCTGAGTCCCCATCTCTCTTTCCAGGCT AAGCGTCCTGCCAGGGCCTGGCAGGGGGCCCGTGGTTTCTCACGTACCAG CTGCAGAGCCAATCTCCCCAGGAACCCACCAAGCAAGCTGGCTTGGGTTT TTTTTCTATTTTGTTTCTTTCTTTACTGTTTTTTATTATTATTATTATTT TTCTGTATTGCATTGTGTCCTACATGCACACGACACACACATACACACAT GTTAACAATAAGCATACTCCTTTCTACCTGCATCACCTGAGCAGCCTTAC CTGTGCATGGTAAGTCTCCCTTACCATGTAACTAACACCCTCCACCTTGA CCCTCCTGTACTCACTAGACAGGAGCACCACGGCGGAGAAGCAAGACAGC AGGACGG	A A	exon_loss_variant exon_loss_variant	HIGH	HG02886.hp1 HG03540.hp1 HG02886.hp1 HG03540.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0254 a0003c0002t0001g0255 a0003c0002t0001g0254 a0003c0002t0001g0255	2	462	0.0043	-956	c.17_ others(10): Show c.17_220+251del	UCMA	ENSG00000165623.10	transcript	ENST00000378681.8	protein_coding	3/5			chr10	TogoVar
FLT4_chr5_180596506_180654600	180617483	CACCCTCT others(948): Show CACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAG CACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAG CACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTATTCCAGAG CACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAG CACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAG CACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAG CACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGA GCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGA GCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAG AGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAG AGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAG AGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCA GAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCA GAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCA GAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCC AGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCC AGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCC CAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTC CAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTC CAGAGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp2 others(90): Show HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG02015.hp2 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02145.hp2 HG02300.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18961.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18982.hp1 NA18984.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA19004.hp1 NA19011.hp1 NA19056.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0009 others(5): Show a0001 a0002 a0009 a0011 a0018 a0021 a0025 a0029	a0001c0009 a0001c0023 a0002c0002 others(11): Show a0001c0009 a0001c0023 a0002c0002 a0002c0008 a0002c0011 a0002c0029 a0002c0035 a0002c0038 a0009c0021 a0011c0019 a0018c0048 a0021c0042 a0025c0039 a0029c0030	a0001c0009t0001 a0001c0009t0002 a0001c0009t0004 others(22): Show a0001c0009t0001 a0001c0009t0002 a0001c0009t0004 a0001c0009t0014 a0001c0023t0008 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0014 a0002c0002t0018 a0002c0002t0022 a0002c0008t0004 a0002c0008t0032 a0002c0011t0004 a0002c0011t0014 a0002c0029t0001 a0002c0035t0001 a0002c0038t0004 a0009c0021t0001 a0011c0019t0008 a0018c0048t0001 a0021c0042t0028 a0025c0039t0001 a0029c0030t0030	a0001c0009t0001g0020 a0001c0009t0001g0064 a0001c0009t0002g0115 others(88): Show a0001c0009t0001g0020 a0001c0009t0001g0064 a0001c0009t0002g0115 a0001c0009t0004g0014 a0001c0009t0014g0084 a0001c0023t0008g0376 a0001c0023t0008g0377 a0002c0002t0001g0002 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0028 a0002c0002t0001g0032 a0002c0002t0001g0062 a0002c0002t0001g0071 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0102 a0002c0002t0001g0116 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0204 a0002c0002t0001g0210 a0002c0002t0001g0250 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0270 a0002c0002t0001g0330 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0003g0078 a0002c0002t0003g0206 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0004g0015 a0002c0002t0004g0031 a0002c0002t0004g0034 a0002c0002t0004g0057 a0002c0002t0004g0065 a0002c0002t0004g0081 a0002c0002t0004g0095 a0002c0002t0004g0097 a0002c0002t0004g0098 a0002c0002t0004g0101 a0002c0002t0004g0103 a0002c0002t0004g0104 a0002c0002t0004g0189 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0268 a0002c0002t0005g0343 a0002c0002t0014g0033 a0002c0002t0018g0100 a0002c0002t0018g0164 a0002c0002t0022g0314 a0002c0008t0004g0066 a0002c0008t0004g0295 a0002c0008t0004g0303 a0002c0008t0004g0323 a0002c0008t0032g0304 a0002c0011t0004g0008 a0002c0011t0004g0213 a0002c0011t0014g0167 a0002c0029t0001g0227 a0002c0035t0001g0220 a0002c0038t0004g0069 a0009c0021t0001g0030 a0009c0021t0001g0325 a0011c0019t0008g0060 a0011c0019t0008g0061 a0018c0048t0001g0218 a0021c0042t0028g0378 a0025c0039t0001g0041 a0029c0030t0030g0302	93	388	0.2397	-955	c.300 others(17): Show c.3001+332_3002-490del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
NEU4_chr2_241804193_241822413	241806452	CCACCCTC others(948): Show CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGG GAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	318	0.0031	-955	c.-28 others(11): Show c.-2825_-1871del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2740		chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79919511	CAGGAACC others(948): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGG TCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGG AGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAA CCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGG TCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG AGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAG AGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGT GAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGT CAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAG ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAG GGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGA GAGACA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02738.hp2 HG04184.hp2 others(1): Show HG01192.hp1 HG02738.hp2 HG04184.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0035 a0001c0001t0006 a0001c0001t0035	a0001c0001t0006g0239 a0001c0001t0006g0244 a0001c0001t0006g0257 others(1): Show a0001c0001t0006g0239 a0001c0001t0006g0244 a0001c0001t0006g0257 a0001c0001t0035g0241	4	229	0.0175	-955	c.392 others(16): Show c.392-1066_392-112del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393352	AGGCAGGT others(948): Show AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0009 a0001c0032t0009	a0001c0032t0009g0136 a0001c0032t0009g0136	1	320	0.0031	-955	c.181 others(21): Show c.1811-14004_1811-13050del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
CCDC7_chr10_32441140_32887864	32699474	TCCAAGTC others(947): Show TCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAACATACGTGTGCAT GTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAA TGGGAGTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATC GCCACACAGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAG TGTAAAAGCTTTCCTATTTCTATACATCCTCTCCAGCACCTGTTGTCTCC TGACTTTTTAATGATCGTCATTCTAACTGGTGTGAGATGGTATCTCATTG TGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTC ATCTGTCTGTTGACTGCATAAATGTCTTCTTTTGAGAAGTATCTGTTCAT ATCCTATGCCCACTTGTTGATAGGGTTGTTTGTTTTTTTCTTGTAAATTT GTTTGAGTTCATCGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAG ATTGCAAAAATTTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGT AGTTTCTTTTGCTGTGCAGAAGCTCTTCAGTTTAATTAGATCCAATTTGT CAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCC TTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGT TTTTATGGTTTTAGGTCTAACATTTAAGTCTTTAATCGATCTTGAATTAA TTTTTGTATAAGGTGTAAGGAAGGGATCCAGATTCAGCTTTCTCCATATG GCTAGCCAGTTTTCCTAGCACCATTTATTAACTAGGGAATCCTTTCCCCA TTTCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATGGTTGTGGATATGTG GCATTATTTCTGAGGGCTCTATTGTGTTCCATTGGTCTATATCTCTGTTT TGGTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG01243.hp1 others(15): Show HG00735.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02486.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03225.hp2 NA19240.hp2 NA20129.hp1	a0005 a0011 a0013 a0005 a0011 a0013	a0005c0006 a0005c0009 a0011c0014 others(1): Show a0005c0006 a0005c0009 a0011c0014 a0013c0028	a0005c0006t0001 a0005c0009t0001 a0005c0009t0003 others(3): Show a0005c0006t0001 a0005c0009t0001 a0005c0009t0003 a0011c0014t0001 a0011c0014t0003 a0013c0028t0005	a0005c0006t0001g0284 a0005c0006t0001g0285 a0005c0006t0001g0286 others(15): Show a0005c0006t0001g0284 a0005c0006t0001g0285 a0005c0006t0001g0286 a0005c0006t0001g0287 a0005c0006t0001g0288 a0005c0006t0001g0289 a0005c0006t0001g0292 a0005c0006t0001g0293 a0005c0006t0001g0294 a0005c0009t0001g0290 a0005c0009t0003g0258 a0005c0009t0003g0259 a0005c0009t0003g0260 a0005c0009t0003g0261 a0005c0009t0003g0262 a0011c0014t0001g0291 a0011c0014t0003g0257 a0013c0028t0005g0200	18	366	0.0492	-954	c.245 others(19): Show c.2458+4486_2458+5439del	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
NPEPPS_chr17_47526108_47628276	47529663	AAAGTGCT others(947): Show AAAGTGCTGGGATTACAGGTGTGAGCCACCGTACCTGGCCCTGGCCCCCC TTTTTAAAGATAATTTCAGTTACATTATATATATATATATATATATATAT ATATGCATTTGTATATATACCTCCTCAATTTGCAAGGTATCTACAGAACT GAGAGAGCCACAGATAGTTCACCATTAAAGAGGCCATGATTGCTGAAGGA TCTTTTAGTTTAAAAAGAAACAAAGATGAAAATGGGGAAAAGGTGAAACA TCCCATTTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGACAGA GTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAACCTCCACCTCCAGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCG AATAGCTGGGACAACAGGCGCCCGCCACCAAGCCCGGCTATTTTTTTTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTC TTGAACTCCTAACCTTGTGATCCGCCCGCCTCGGCCTCCCAAATTGCTGG GATTACAGGCGTGAGCCACCGCGACCGCCCGAAACATCCCATTTTAAACA TTAAATCATGGAAACAAAAATACAGTTTTTGAAATCACTCCCTCAAAAGT CCAAATCTCATTGGTTGAAGTAACCTAGATTATTAAAGGTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCA GTGGTGTGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCA CGCCCGGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTT AGCCAGGATGGTCTCGATCTCCTTGACCTCGTGATCCGCCCGCCTCGGCC TCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG02735.hp1 HG01071.hp2 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0023 a0002c0005t0001g0020 a0001c0001t0001g0023 a0002c0005t0001g0020	2	340	0.0059	-954	c.-16 others(10): Show c.-1637_-684del	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding		1444		chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743695	CCCTGGCT others(947): Show CCCTGGCTACTAGCACTGTCCTGGCTACGAGCACAGCCCTGGCTACTAGC AGAGCCCTGGCTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTA TCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG CTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGC ACTCT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0037 a0001c0024t0037	a0001c0024t0037g0095 a0001c0024t0037g0095	1	161	0.0062	-954	c.655 others(18): Show c.655-10309_655-9356del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743980	CTGTCCTG others(947): Show CTGTCCTGGTTATGAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACT AGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT TACGAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCC TGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACT ATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAG CACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTA CTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTG GCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGC CCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCA CAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACT AGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGC TACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCC TGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAGA GCCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGGCTACTAG CACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTA CTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTG GCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGC CCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACGAGCA CAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACT AGCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0020 a0001c0070t0020	a0001c0070t0020g0003 a0001c0070t0020g0003	1	192	0.0052	-954	c.655 others(18): Show c.655-10029_655-9076del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33			chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79919654	TGGGGAGA others(947): Show TGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTC AGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAG ACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAG TGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAG GAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGA ACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGG TCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG GGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGG AACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAG AGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCA GTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGT CAGAG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0200 a0001c0001t0009g0200	1	289	0.0035	-954	c.392 others(16): Show c.392-1208_392-255del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393437	GGGAAGCC others(947): Show GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0027 a0001c0001t0007g0135 a0001c0001t0007g0027 a0001c0001t0007g0135	2	343	0.0058	-954	c.181 others(21): Show c.1811-14088_1811-13135del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
LARS2_chr3_45383576_45554407	45399787	CCCTTTCC others(946): Show CCCTTTCCACCCTTCCCCCAAAGTCCCCAAAGTCCATTGTATCATTCTTA TGCCTCATAGCTTAGCTCCCACATATCAGTGAGAACATAAGATGTTTGGT TTTCCATTCCTGAGTTACTTCATTTAGAATAATAGTCTCCAATCTCACCC AGGTCACTGCAAATACTGTTAATTCATTCCTTTCAAAAAATAAGTTTTTA AAAGAGAAAAAAAAAAGATATATGGGTACTTAACACTTAGAGGTTGTTTG GCATTATTTTGGACATTCTTTAGCTTAAACCAGGGCTTTGAATTTTGCTT TTTGACATTTTAATTGATTTACATTCTGGGAACACTCTTTTTAAAAGGAA ACTTTTAAAATGTTAAATTATTACTTTGTGTAAAATGCCAAAATATTATG TATACATGCAGAGTTCCCAGAAAATGCTTAATAAATACTCATTGTCGTTC TTTCCTAGAAATCGAAGCCAAAATTTTACGTGCTTTCCATGTTCCCTTAT CCTTCTGGTAAGCTGCACATGGGCCATGTGCGTGTCTACACCATCAGCGA CACCATAGCACGGTTCCAGAAGATGAGAGGGATGCAGGTAAGAACAGGTG CCTGCTGGAGCAGCCCTTGTCTGCCACACGCAGGGTTGGCATGTAGTAAT ATGTGTTCAAGACAAATGAAGAAAACCAACTTTAGTTAAGATTAGGACAG CTTTGAAGATGGACATGAAAAGCTCAGTGTTTCCTTTTATGGATTAGATG ATATTATAATAAAGCATCTAGGTTAATTGGGGGGCAGCCATGAGTTGGGT GTTGTGCTGGGGTGGAGATCAGATGGGAATGGGGTGAAAGGTAGATACAA ATGTGGATAACACTGATAATCTTCCCAGGAGATACTCACCCATGAGTAGA GAATCATTGTATATAACGAACTGAGGTCAACAGTACAAATACACATCAGT GCTA	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18995.hp1 NA18995.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0135 a0006c0023t0001g0135	1	240	0.0042	-953	c.235 others(15): Show c.235-457_363+367del	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	4/22			chr3	TogoVar

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