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
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(830): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGG AGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAG GGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGAGG GAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGA GGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAG GGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGG GGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAG GGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAG GAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGC GGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	30	0.0333	837	c.51 others(848): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCT CCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCCT CCTCCCTCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCCCTCCCCCCTCCC CTCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCGTCCCCTCCTCCCCGCCC TCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCT CCCCTCCTCCCCCTCCCCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCT CCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCC TCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCCCCCTCCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCTCC TCCCCCTCCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTC CCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
C1orf159_chr1_1076823_1121089	1078506	G G	GGCTGAGG others(830): Show GGCTGAGGCTATGGGGGGACTCCGTTGGGGGGAGGCTGAGGCTATGGGGA CTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAG GCTATGGGGACTCCGGGAGGCATGGGGACTCCGTGGGGGAGGCTGAGGCT ATGGGGACTCCATCGGGGGAGGCTGAGGCTAGGGGGGACTCCGTCGGGGG AGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCAGTGGGGGGGAGGCTGAG GCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGGCTATGGGG GACTCCGTGAGGGTGGCCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGG CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGTGGCTG TGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGGACTCCGTG GGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	315	0.0032	837	c.43 others(848): Show c.4386_*4387insGTCCCCCCCACGGAGTCCCCATAGCCTCAGCGTC CCCCCACGGAGTCCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATA GCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGG AGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCT CCCGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATA GCCACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGG AGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCT CCCGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATA GCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGGCCACCCTCACGG AGTCCCCCATAGCCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCA TAGCCTCAGCCTCCCCCCCACTGGAGTCCCCATAGCCTCAGCCTCCCGGC ACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCA GCCTCCCCCGACGGAGTCCCCCCTAGCCTCAGCCTCCCCCGATGGAGTCC CCATAGCCTCAGCCTCCCCCACGGAGTCCCCATGCCTCCCGGAGTCCCCA TAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCAACGGAGTCCCCCCATAGCCTC AGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3316		chr1	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(830): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCG GGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGA GGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGG GACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGG AGGGAGGGACGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAC GGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGG AGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACG GAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01175.hp1 HG01069.hp2 HG01071.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0254 a0002c0002t0001g0351 a0002c0002t0001g0193 a0002c0002t0001g0254 a0002c0002t0001g0351	3	276	0.0109	837	c.465 others(852): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCG CCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCC GTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCC GTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTC CCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCG TCCCTCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTC CGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCT CCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCC GTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCC CTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCC GTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCGT CCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCT CCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CCDC6_chr10_59783747_59911556	59882095	G G	GGGAGAAG others(830): Show GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAG GAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGG AAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCC AGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGAAAAGCCGCGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0100 a0001c0005t0004g0100	1	250	0.0040	837	c.303 others(856): Show c.303+24026_303+24027insGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC GCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTTCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTC CTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTG GCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCT CCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(830): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGT TTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0031 a0001c0001t0034g0031	1	38	0.0263	837	c.248 others(854): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGG AGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20357454	G G	GAGGGGAG others(830): Show GAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGAT GGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTC ATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTA GTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGT GAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTTGAGGGGAAGTG GTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGA GGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGG TCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAG GGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG03195.hp1 HG02572.hp2 HG02896.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 a0001c0001t0001 a0001c0003t0004 a0002c0002t0001	a0001c0001t0001g0078 a0001c0003t0004g0004 a0002c0002t0001g0136 a0001c0001t0001g0078 a0001c0003t0004g0004 a0002c0002t0001g0136	3	200	0.0150	837	c.351 others(856): Show c.3514-2756_3514-2755insAGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCAC ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACAC TGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACT GCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAG GTGGTCACACTTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACT GTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACAC TGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGA GGTAGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361434	A A	AGTGGGGA others(830): Show AGTGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGG AGGGGAGCAGGGGAGGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGG GGAGCTGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGAGGAGGGGGAGCAGGGGAGGGGGGA GGAGGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGAGGAGGAGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0037 a0001c0001t0012g0037	1	159	0.0063	837	c.-27 others(846): Show c.-270_-269insCTCCTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTG CTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTC CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCTCCTCCTCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCCT CCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTCCCCTGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCA GCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCAGCT CCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCCTCCCCTGCTCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCA C	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		86		chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(830): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCT CTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCC TCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	2	0.5000	837	c.162 others(858): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCT CTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCT TCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTC CCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(830): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCT CTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCC TCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0152 a0001c0003t0010g0152	1	2	0.5000	837	c.162 others(858): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCT CTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCT TCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTC CCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(830): Show CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCC CTGGATGGTGCTGGGGTAACGCTCCACAGCCCTGGATGGCGCTGGGGTAA TGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCA CAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGG GGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCT GGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACG CCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGC GCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACA GCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGG TAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCC CTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGC TGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0125 a0003c0004t0003g0125	1	143	0.0070	837	c.294 others(854): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCG TTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAG GGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCA TCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATT ACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGG CTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGCGTTACCCCAG CACCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGG GCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCAAC CAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(830): Show CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CGCTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTA CAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGG GGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCT GGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACG CCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGC GCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACA GCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGG TAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCC CTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGC TGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0128 a0004c0006t0003g0128	1	143	0.0070	837	c.294 others(854): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGC CATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCG TTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAG GGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GGGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCA TCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATT ACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGG CTGTGGAGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAG CGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGG GCATTACCCCAGCGCCAACCAGGGCTGTAGGGCATTACCCCAGCGCCAAC CAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(830): Show GGGGAAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAG GCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	171	0.0058	837	c.85- others(854): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCTTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCC TGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGCA others(830): Show AGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGG GGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAAGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0200 a0003c0012t0001g0200	1	298	0.0034	837	c.85- others(854): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGC CTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTG CCTGCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(830): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02698.hp2 HG02897.hp1 others(6): Show HG00280.hp1 HG02698.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 NA19030.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0004 a0003c0004t0001 a0003c0004t0004	a0003c0004t0001g0010 a0003c0004t0001g0025 a0003c0004t0001g0049 others(4): Show a0003c0004t0001g0010 a0003c0004t0001g0025 a0003c0004t0001g0049 a0003c0004t0001g0120 a0003c0004t0001g0123 a0003c0004t0004g0015 a0003c0004t0004g0155	9	82	0.1098	837	c.737 others(852): Show c.737+179_737+180insCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGG GTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCTCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(830): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGTGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGGA GGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG GGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGG GAGGGGAGGGGGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGA AGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG GGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAG GGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGG AGGGGAAGGGGGGAGACAGAGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0203 a0001c0001t0008g0203	1	97	0.0103	837	c.923 others(856): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCC CTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTC CCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCC TCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCC CCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCACTCCCCTCCCCCTCCCACTCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCC ATTCCTCCATTCCTCCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCT TCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIP2C_chr10_269201_694668	556311	C C	CCCCTCCC others(830): Show CCCCTCCCACAGCCGGATCCCAGGATGGCACCCACCCACCCCTCCCACAG CCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAG GACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCAC CCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCA CAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCC ACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCC CACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATC CCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCAC CCACCCACCCCTCCCACAGCCGGATCCCAGGATGGCACCCACCCACCCCT CCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGG ATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGG CACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACC CCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC GGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGAC GGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCA CCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	73	0.0137	837	c.86- others(854): Show c.86-69782_86-69781insTGGGTGGGTGCCGTCCTGGGATCCGGCT GTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTG GGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGT CCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGG CTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGG TGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCC GTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATC CGGCTGTGGGAGGGGTGGGTGGGTGCCATCCTGGGATCCGGCTGTGGGAG GGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGT GCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGA TCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGG AGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGG GTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGG GATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTG GGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGT GGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCC TGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCATCCTGGGATCCGGCT GTGGGAGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(830): Show AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAG GGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGA GGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGGGG AGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGG GAGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGG GAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGG GAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGAGGAGGGAGGGAGGAGGAGGGAGAGGGAGGAGGAGGAGGGGGA GGGAGGAGGGGGAGGGAGGAGGGGGAGGGAGGAGGGGGAGGGAGGAGGGG GAGGGAGGAGGGGGAGGGAGGAGGAGGGGGGAGGGAGGAGGAGGGGGGAG GGAGGAGGGGGAGGGAGGAGGAGGGGGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAG GAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0077 a0077	a0077c0158 a0077c0158	a0077c0158t0001 a0077c0158t0001	a0077c0158t0001g0097 a0077c0158t0001g0097	1	98	0.0102	837	c.118 others(856): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCC TCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCC TCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCCCCCTCCTCCTCCC TCCCCCTCCTCCCTCCCCCCTCCTCCTCCCTCCCCCCTCCTCCTCCCTCC CCCTCCTCCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCCCTCCTCCCT CCCCCTCCTCCCTCCCCCTCCTCCTCCTCCCTCTCCCTCCTCCTCCCTCC CTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCC TCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCCTCCTC CCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCC CTCCTCCCTCCTCCCCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTC CTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DPEP1_chr16_89608642_89643433	89619512	T T	TCCCTGCC others(830): Show TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCC CGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	183	0.0055	837	c.-10 others(856): Show c.-107+5814_-107+5815insCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCC TCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCC CCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGC CCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCC CTGCTCCCCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEF1A2_chr20_63483014_63504083	63492040	T T	TAGAAGGA others(830): Show TAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGAGA GATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGAGAAGGA TGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGATGGATG GGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTGGGTGGA TGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGATG GATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATGGATGCA TGGATGGATGGATGGAGAGGTGGGTGGACGGATGGATGGATTGGGAGGTG GGTAGATGGGTGGATGGACAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGGTGGATGGATGGATGGGGAGGTGGATGGATGGATGGTTAGATGGGGA GGTGGGTGGATGGGTGGATGGACAGAAGGATGGATGGGTAGGGAGGTAGG TGAGTGGATGGATGGATGGGGAGATGGATGGATGGATAGAGAGAAGGATG GATGGGTGGGACAATGGATGGATGGATGGATAGAAGGATGGACGGGTGGG GAGATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGGGTGGGGA GGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGATGGATGGA AGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGGATGGATGTACA GAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGATGGATGGA TAGATAGAAGGATGGATGGGTGGGACAATAGATGGATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02280.hp2 HG02895.hp2 others(4): Show HG01361.hp2 HG02280.hp2 HG02895.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0118 a0001c0001t0001g0009 a0001c0001t0001g0118	7	366	0.0191	837	c.772 others(854): Show c.772+1096_772+1097insCATCCATCTATTGTCCCACCCATCCATC CTTCTATCTATCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCA TCCATCCTTCTGTACATCCATCCATCCATCCATCCACCCACCTCCCTATC CATCCATCCTTCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTA TCCACCCACCTCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATC CATCCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGT CCCACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATC CATCCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCA TCCACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATC CATCCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCA CCCATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCTCCATC CATCCATCCATGCATCCATCCATCCATCCATCCACCCACCCACCTCCCCA CTCATCCATCCATCCACCCACCCACCTCCCCACCCATCCATCCTTCTCTC CATCCATCCATCCACCCACCTCTGCATCCATCCATCCATCCACCCGCCCA CCTCCCCACCCATCCATCCATCCACCCATCCACCCACCCACCCACCTCCC CACCCATCCATCCTTCTCTCCATCCATCCATCCATCCATCCATCTATCCA TCTATCCATCTCTCCATCCATCCACCCACCCACCCACCTCCCCACCCATC CATCCTTCT	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(830): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp2 HG02738.hp1 others(1): Show HG01981.hp1 HG01981.hp2 HG02738.hp1 HG03654.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0036 a0002c0001 others(1): Show a0001c0002 a0001c0036 a0002c0001 a0003c0005	a0001c0002t0001 a0001c0036t0002 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0036t0002 a0002c0001t0001 a0003c0005t0001	a0001c0002t0001g0087 a0001c0036t0002g0042 a0002c0001t0001g0101 others(1): Show a0001c0002t0001g0087 a0001c0036t0002g0042 a0002c0001t0001g0101 a0003c0005t0001g0147	4	77	0.0519	837	c.282 others(856): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCT TGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(830): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	141	0.0071	837	c.282 others(856): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCT TGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(830): Show TTCCCTCCCCTCTCATCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATCCT CCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCTCT CCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTC CCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTC TTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTCT CCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCCC TCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTCC CTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCTT TTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCTCC CCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCC TCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT TTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCC CTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCTTC ACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01358.hp1 others(8): Show HG00735.hp2 HG01099.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG02109.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp1 HG03017.hp2 NA20905.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 others(6): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0010 a0001c0005t0016 a0001c0007t0002 a0001c0007t0015 a0001c0007t0039 a0001c0007t0050	a0001c0005t0001g0101 a0001c0005t0002g0099 a0001c0005t0004g0038 others(8): Show a0001c0005t0001g0101 a0001c0005t0002g0099 a0001c0005t0004g0038 a0001c0005t0004g0075 a0001c0005t0010g0025 a0001c0005t0016g0039 a0001c0007t0002g0132 a0001c0007t0015g0123 a0001c0007t0015g0127 a0001c0007t0039g0131 a0001c0007t0050g0129	11	12	0.9167	837	c.123 others(858): Show c.1237-15754_1237-15753insTCCCCTCTCATCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTTTTCCTCCCCTCCCCTTCTCC TCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCTCT CCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCT CCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCCCC TTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTC CCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTC CCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCC CCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCC CCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCC CTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCT CCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT CTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCT CCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTC CCTTTCCTGCCCCTTCTCTTCACCTCTCTTCCCCTCCCCTCTCTTCCCCT CTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(830): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCTCCTCCTCTCCTC TCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATCCT CCCCTTCTCCTACCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCTCT CCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTC CCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTC TTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTCT CCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCCC TCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTCC CTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCTT TTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCTCC CCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCC TCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT TTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCC CTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCTC ACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0030 a0001c0006t0030	a0001c0006t0030g0009 a0001c0006t0030g0009	1	2	0.5000	837	c.123 others(858): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCTTCCTCTGCCCTCCCTTCC CCTCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCTCC TCCCATCCCTTCCCTTATCCTCCCCTTCTCCTACCCTCACCTTCTCCTCT CCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCT CCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCCCC TTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTC CCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTC CCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCC CCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCC CCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCC CTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCT CCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT CTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCT CCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTC CCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCCT CTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(830): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCTCCTCCTCTCCTC TCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATCCT CCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCTCT CCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTC CCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTC TTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTCT CCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCCC TCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTCC CTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCTT TTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCTCC CCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCC TCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT TTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCC CTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCTC ACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02922.hp2 others(3): Show HG02145.hp2 HG02451.hp1 HG02922.hp2 HG03453.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0001t0040 a0001c0001t0046 a0001c0002t0002	a0001c0001t0001g0085 a0001c0001t0002g0092 a0001c0001t0028g0091 others(3): Show a0001c0001t0001g0085 a0001c0001t0002g0092 a0001c0001t0028g0091 a0001c0001t0040g0090 a0001c0001t0046g0086 a0001c0002t0002g0122	6	7	0.8571	837	c.123 others(858): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCTTCCTCTGCCCTCCCTTCC CCTCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCTCC TCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCTCT CCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCT CCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCCCC TTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTC CCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTC CCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCC CCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCC CCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCC CTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCT CCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT CTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCT CCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTC CCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCCT CTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FHL5_chr6_96558128_96623626	96607286	T T	TTCAAAGT others(830): Show TTCAAAGTATTTTTTTTTTTTTTTTAAATGAAAATCTATGAAGAAATTTA ATTAATTAATTACAAATCCTTTTATAACCAATATACATTTGTAAAGAGTC AACAAAAATTCATAAAACAGTGTTTCTGGTATTCTCATTACTGTTTGTCC TGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAAGGATGATAAAAATC TTTTTAATAATTTCTGAAGTACCTATATATACATGCTTTCCAGGGGAGGA AATAACACATTAGAGTTGGCAAGCACACTAACGGGGAGTTTGAATGGAGA AAATTAACTAGTAGTTTTGAAATCTCAAAATCCATGGTCGTCTACTGATA CAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAGCTTAATGAAGTGGT CAGAGGTACAGCAGGGATAGAAGAAACCACCTGCATATCTACTCATGTGT GTATATGTATGTGTGTACACACACACACACACATATATATGAAGGTTAGT GTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAAGCAAAGAATATTTA ACATTTTAACAAACTGCGTGGCAATAGAATAGAAGAAGAATGTCCGAGCA ATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAATGAGATGTGTTTGC TGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTCAACAACACATATGT TTCCAGTAGGCATATTTCCATTTAACACATTCTCAACCCGTGGGCTATTT CCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGATGTTCCGACAATCT GGAACTGCCCTAGCAATTAATTTTTATAGCCCACGGGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp2 HG03041.hp2 HG03579.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0243 a0005c0006t0004g0244 a0005c0006t0004g0243 a0005c0006t0004g0244	2	369	0.0054	837	c.504 others(854): Show c.504+1229_504+1230insTTTTTTTTTTAAATGAAAATCTATGAAG AAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATACATTTGTA AAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTCATTACTG TTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAAGGATGAT AAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGCTTTCCAG GGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGGAGTTTGA ATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATGGTCGTCT ACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAGCTTAATG AAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCATATCTACT CATGTGTGTATATGTATGTGTGTACACACACACACACACATATATATGAA GGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAAGCAAAGA ATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGAAGAATGT CCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAATGAGATG TGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTCAACAACA CATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAACCCGTGG GCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGATGTTCCG ACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGGGGTCAAA GTATTTTTT	FHL5	ENSG00000112214.11	transcript	ENST00000450218.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(830): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGC CCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCA CCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	130	0.0077	837	c.240 others(856): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC CCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCC AGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTG GGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGG TCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTC ATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAG AGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(830): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGC CCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCA CCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	130	0.0077	837	c.240 others(856): Show c.240+55587_240+55588insCATTGGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC CCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCC AGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTG GGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGG TCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTC ATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAG AGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GPR173_chrX_53043789_53085615	53073918	T T	TATATTTA others(830): Show TATATTTATATTTATTTTTATATATATAAATATATATATTTATATATATA TAAATAAATATAAATATATATATTTATATGTATATATATAAATATATATA TTTGTATATATATAAATATATATATTTATATATATATATTTTATACATAT AAATATATATTATAAATATATATTTATACATATAAATATATATTATAAAT ATATATATTTATATTTATATATATTATATATAATTATATATAAATGTATA TTTATATATATTTATATATAAATGTATATTTATATATAAATATATATAAA TAATACATTTATATATATATAAAATATATTATATATAAATATACATGTAT ATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATAT ATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATAT AAATATACATGTATATTTATTCATATATAAATATATATAAATATACATGT ATATTTATTCATATATAAATATATATAAATATACATGTATATTTATAAAT ATTATATATGAATAAATATACATGTATATTTATATATATTTATATATGAA TAAATATACATGTATATTTATATATATTTATATATGAATAAATATACATG TATATTTATATATATATATATGAATAATATACATGTATATTTATATATAT TTATATATGAATAAATATACATGTATATTTATATATATATTTATAATATA CATGTATATTATATATTTATATATGATATAATATACATGTATATTATATA TATAAAGTATACATTTATATATAAATATATAAATATAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0061 a0001c0003t0002g0061	1	206	0.0049	837	c.-97 others(854): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATATATATTATATAT AATTATATATAAATGTATATTTATATATATTTATATATAAATGTATATTT ATATATAAATATATATAAATAATACATTTATATATATATAAAATATATTA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATAAATATTATATATGAATAAATATACATGTATATTT ATATATATTTATATATGAATAAATATACATGTATATTTATATATATTTAT ATATGAATAAATATACATGTATATTTATATATATATATATGAATAATATA CATGTATATTTATATATATTTATATATGAATAAATATACATGTATATTTA TATATATATTTATAATATACATGTATATTATATATTTATATATGATATAA TATACATGTATATTATATATATAAAGTATACATTTATATATAAATATATA AATATACAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(830): Show TCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCAC CATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCA CCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACC TCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCAC CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCACCACCAC CACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCATCA CCTCCACCACCACCACCACCACCACCACCATCTCCTTCAACACCACTACC CCCACCACTACCACCATCACCTCCACCACCACCACCATCTCCTTCAACAC CACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCA CCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACC TCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCAC TACCCCCACCACTATCACCATCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	149	0.0067	837	c.804 others(854): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGA TGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAG ATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGT GGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGG TGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTG ATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGG TAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTG GTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAA GGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGA TAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTG GTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAA GGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAG TGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAG ATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGA AGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGG TGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322309	A A	ATATATGC others(830): Show ATATATGCAATATATATATATGGAATATATATATGCAGTATATATATATG AATATATATATGGAATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATATGTGGAATATATATATGGAATATATATATATGTGGAATATATATATG GAATATATATATGGAATATATACATGGAATATATGTATATGGAATATATA CATGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAA TATATACATGGAATATATATATGGAATATATACATGGAATATATATATGG AATATATACATGGAATATATATATATGGAATATATACATGGAATATATAT ATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAAT ATATATATATAGAATATATACATGGAATATATATATGGAATATATACATG GAATATATATATATGGAATATATACATGGAATATATACATGGAATATATA CATGGAACATATACATGGAATATATACATGGAACATATACATGGAATATA TATATATGGAACATATACGGAATATATATATGGAATATATATACGGAATA TATATATATGGAATATATATACGGAATATATATATGGAATATATATACGG AATATATATATATGGAATATATATACGGAATATATATATATGGAATATAT ATACGGAATATATATATGGAATATATATACGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	305	0.0033	837	c.-27 others(848): Show c.-2747_-2746insTATATGCAATATATATATATGGAATATATATATG CAGTATATATATATGAATATATATATGGAATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATATGTGGAATATATATATGGAATATATATATATG TGGAATATATATATGGAATATATATATGGAATATATACATGGAATATATG TATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAA TATGTGTATATGGAATATATACATGGAATATATATATGGAATATATACAT GGAATATATATATGGAATATATACATGGAATATATATATATGGAATATAT ACATGGAATATATATATATGGAATATATACATGGAATATATATATATGGA ATATATACATGGAATATATATATATAGAATATATACATGGAATATATATA TGGAATATATACATGGAATATATATATATGGAATATATACATGGAATATA TACATGGAATATATACATGGAACATATACATGGAATATATACATGGAACA TATACATGGAATATATATATATGGAACATATACGGAATATATATATGGAA TATATATACGGAATATATATATATGGAATATATATACGGAATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATATGGAATATATATACGGAATATATATATGGAATATATATACGGAAT ATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2660		chr21	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(830): Show CCTCCTCCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGT CCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCC TCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCC CCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCC TCCTCCCCCCTCCCCCCCCTCCTCCTCCCCCTCCCCCCTCCTCCCCCCTC CTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCT CCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCT CCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	11	0.0909	837	c.10- others(854): Show c.10-16129_10-16128insCCCCCACCCACCCCTCCCCTCTCCTCCC CCCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC CCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCT CCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCC TCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCCCTCCTCCTCCCCCTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCC CCCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCC CTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCC CACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(830): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCC ACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTG AGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGG CCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCC TGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGG GGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTG AGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGG CTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCC TGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGG GGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACC CCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGG CCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCC TGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGG GGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACC CCTGAGTGAGAGGGTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAG CCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp2 HG02683.hp1 others(4): Show HG01175.hp1 HG01358.hp2 HG02683.hp1 HG02683.hp2 HG03490.hp1 HG03492.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0019 a0001c0027 others(1): Show a0001c0001 a0001c0019 a0001c0027 a0002c0002	a0001c0001t0001 a0001c0001t0015 a0001c0001t0047 others(3): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0047 a0001c0019t0032 a0001c0027t0001 a0002c0002t0001	a0001c0001t0001g0090 a0001c0001t0015g0083 a0001c0001t0015g0084 others(4): Show a0001c0001t0001g0090 a0001c0001t0015g0083 a0001c0001t0015g0084 a0001c0001t0047g0082 a0001c0019t0032g0220 a0001c0027t0001g0222 a0002c0002t0001g0079	7	247	0.0283	837	c.430 others(852): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCATC CCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGA TGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCT CTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCCCA GCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACC CTCTCACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGG TGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCT CTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCTCTCACTCAGGGTTCCT GATGGTGGCCCCTACCCTCTCACTCAGGGGCCCAGCAGGCAGCCCCCACC CCCTCACTCAGGGGTCCTGATGGTGGCCCCCACCCTCTCACTCAGGGTTC CTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGCGGCCCCCA CCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGGGT CCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(830): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTGATGATGGGGGT GGGGGGGTGATGACGGTGATGATGGGGGTGGGGGGGTGATGACGGTGATG TGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGATGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAG GGGTGATGATGGTAGGGGTGATGATGGTAGGGTGGGGGTGATGATGGTGG GGGTGATGATGGTGAGGGTGATGATGGTGGGGGTAATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGGTGA TGACGGTGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGATG GTGGGGGTAATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGT GATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGGTGATGACGGTG ATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGATGGTGGGGGT AATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0072 a0072	a0072c0080 a0072c0080	a0072c0080t0001 a0072c0080t0001	a0072c0080t0001g0052 a0072c0080t0001g0052	1	31	0.0323	837	c.956 others(854): Show c.956+1962_956+1963insCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATTACCCCCACCATCATCACCCCCACCGCCATCACCGTCATCA CCCCCACCATCACCGTCATCACCCCCCACCATCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCG TCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACC CCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TTACCCCCACCATCATCACCCCCACCGCCATCACCGTCATCACCCCCACC ATCACCGTCATCACCCCCCACCATCACCGTCATCACCCCCACCCCCACCG TCATCACCCCCACCCCCACCGTCATTACCCCCACCATCATCACCCTCACC ATCATCACCCCCACCATCATCACCCCCACCCTACCATCATCACCCCTACC ATCATCACCCCTACCATCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCATCACCGTC ATCACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCA TCACCCCCCCACCCCCATCATCACCGTCATCACCCCCAGCCCCACCGTCA TCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCACCCCC ACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(830): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATATTTTTATATATATT TATATATATTTTTATATATATTTATATATATTTATATATAGTTATATATA TTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATA GTTATATATATAGTTATGTATAGTTATATATATAGTTATATATATATATT TTTATATATATTTTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATTTATATATATAGTTATATATTTATATATA TTTATATATATTTATATATATATTTATATATTTATTTATATATATTTATA TATGTATTTATATATATTTATATATATTTATATGTATTTATATATATTTA TATATATTTATATATATATATAAATATATTTATATATATAAATATAAATA TTTATATATATTTATATATATTTATATATATATTTATGTATATTTATATA TATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	80	0.0125	837	c.125 others(854): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TATATTTTTATATATATTTATATATATTTTTATATATATTTATATATATT TATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGT TATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATA TAGTTATATATATATATTTTTATATATATTTTTATATATATAGTTATATA TATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGT TATATATATATATTTTTATATATATAGTTATATATATATTTATATATATA GTTATATATTTATATATATTTATATATATTTATATATATATTTATATATT TATTTATATATATTTATATATGTATTTATATATATTTATATATATTTATA TGTATTTATATATATTTATATATATTTATATATATATATAAATATATTTA TATATATAAATATAAATATTTATATATATTTATATATATTTATATATATA TTTATGTATATTTATATATATTTATATATATATTTATGTATATTTATATA TGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610453	T T	TGCGGGTG others(830): Show TGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTG GTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGT GAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGG TGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTG AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGGGG GTGAGGGTGTTGACGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGA GCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGTGGGTGCGGG TGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTG GTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGCGGGC GAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAG CGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	257	0.0039	837	c.717 others(854): Show c.717-2810_717-2809insCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGG AGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTG GTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGT GCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGG TGCTGATGGAGCGGGTGGGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTG CGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGT GCTGATGGAGTGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTG AGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCG GGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGC AGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATG GAGCGGGCG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MICAL3_chr22_17782649_18029561	17876838	G G	GGGAGGTT others(830): Show GGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTACGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGG AGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	217	0.0046	837	c.224 others(856): Show c.2242-4816_2242-4815insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAA CCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCC ATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCGTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAAGCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AAGCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACTTCCCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCT CCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MLPH_chr2_237482251_237560322	237545024	T T	TGGGGACA others(830): Show TGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAATGGGCACGGTAGTGAG TGGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGG TGAGTGGGGCACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGAGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGCA CAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGG GGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGA GTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTTAGTGGGGGGACA GTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG GGGACAGTGGTGAGTGGAGGGGACAGTGGTTAGTGGGGGGACAGTGGTGA GTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAG TGGTGAGTGGAGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTG AGTTGGGGGACAGTGGTGAATGGGCACGGTAGTGAGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0123 a0006c0006t0003g0123	1	282	0.0035	837	c.154 others(856): Show c.1540-1578_1540-1577insACAGTGGTGAGTTGGGGGACAGTGGT GAATGGGCACGGTAGTGAGTGGGGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGGACAGTGGTGAGTGGGGCACAGTGGTGAGTGGAGGGACA GTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGG GACAGTGGTGAGTGGGGCACAGTGGTGAGTGGGGGGGACAGTGGTGAGTG GGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTT AGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGAGGGGAC AGTGGTTAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGG GGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTT AGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTTAGTGGGG GGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGAGGACAGTGGTGAGTTGGGGGACAGTGGTGAATGGGCACGGTA GTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(830): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAA AGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGG ATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAG GGAGGGGGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGG AGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGA GGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGG AGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	8	0.1250	837	c.250 others(852): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTC CCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCC ACTCCCCTCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCT CCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCC CTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCC CCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCC TTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCC GCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCC GCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTT CCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(830): Show TCTGCTCTCCCCTCCCCTCCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCCTCTCTTCCCTCCCTCCTC TCTCCCTCCCTCCCCTCTCCCCTCCCCGTCTCCCTCCCGTCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCCTCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCTCCCCTCCCCTCT CCCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCCTCCTC CCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCCTCCTC CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCTCCCCTCCCCCTCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCTCCCTCCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCC CTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCC TCCCATCCCCTCCTCCCCTCCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	4	0.2500	837	c.114 others(856): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCT CCCTCTCTTCCCTCCCTCCTCTCTCCCTCCCTCCCCTCTCCCCTCCCCGT CTCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCCTCCCCTCCTCCCCCTCCTCCCCTCCC CCTCCTCCTCCCCTCCCCTCTCCCCTCCCCTCCTCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCCTCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCT CCTCCCTCCTCCCCCCTCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCCCC TCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC TCCCTCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCT CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCT CCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTC CCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCCTCCCC CCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(830): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCC CCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCC CTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01993.hp1 HG01934.hp2 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0110 a0001c0002t0001g0103 a0001c0002t0001g0110	2	5	0.4000	837	c.114 others(856): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC TCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCC TCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCT CCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCC CCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(830): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01243.hp1 others(4): Show HG00280.hp2 HG01106.hp2 HG01243.hp1 HG02698.hp1 HG03098.hp2 NA19030.hp2 NA21309.hp2	a0003 a0009 a0021 a0003 a0009 a0021	a0003c0005 a0003c0085 a0009c0140 others(1): Show a0003c0005 a0003c0085 a0009c0140 a0021c0039	a0003c0005t0001 a0003c0005t0008 a0003c0085t0001 others(2): Show a0003c0005t0001 a0003c0005t0008 a0003c0085t0001 a0009c0140t0003 a0021c0039t0001	a0003c0005t0001g0134 a0003c0005t0001g0135 a0003c0005t0001g0228 others(4): Show a0003c0005t0001g0134 a0003c0005t0001g0135 a0003c0005t0001g0228 a0003c0005t0008g0281 a0003c0085t0001g0147 a0009c0140t0003g0010 a0021c0039t0001g0193	7	63	0.1111	837	c.25 others(848): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTC GGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGT CAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCC CGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATG AGTGGGGGTCAGGGCCCGGGGAAGGAGGGCTCTCGGGTATGAGTGGGGGT CAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGACCCGGGGAAGGGGGGCTCTCAGGGGCAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGC CCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCT CAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PLXNB2_chr22_50269979_50312646	50276362	G G	GCAGGGAG others(830): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGA GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCC GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGTGGATGGAGCCGCAGGGAGGGGGTGCTGTGGGCACGGCCGA GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCC ACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGG GTGCTGTGGGCACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGC ACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGG GTGGAGCCACAGGGACCGGCGCTGTGGGCACGGCCCTGGGTGCAGCCGCA GGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGAGC GCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCA CGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGA TGGAGCAACAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCA GGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0017 a0017	a0017c0055 a0017c0055	a0017c0055t0001 a0017c0055t0001	a0017c0055t0001g0217 a0017c0055t0001g0217	1	282	0.0035	837	c.533 others(854): Show c.5337+266_5337+267insTGGCTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCC TGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCA TGCCCACAGCGCTCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGT GCCCCCTCCCTGCGGCTGCACCCAGGGCCGTGCCCACAGCGCCGGTCCCT GTGGCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCAC CCACGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCTGTG CCCACAGCACCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCC CCCTCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGC GGCTGCACCCTCGGCCGTGCCCACAGCACCCCCTCCCTGCGGCTCCATCC ACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGC CCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCC CCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGC GGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCC TCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGC CCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCC CCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276362	G G	GCAGGGAG others(830): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGA GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCC GCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGTGGATGGAGCCGCAGGGAGGGGGTGCTGTGGGCACGGCCGA GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCC ACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGG GTGCTGTGGGCACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGC ACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGG GTGGAGCCACAGGGACCGGCGCTGTGGGCACGGCCCTGGGTGCAGCCGCA GGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGC GCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCA CGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGA TGGAGCAACAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCA GGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01934.hp2 HG02004.hp1 others(11): Show HG00673.hp1 HG01934.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02273.hp1 HG03239.hp1 HG03704.hp2 NA18950.hp1 NA18970.hp2 NA18990.hp2 NA19007.hp2 NA19081.hp1 NA20805.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0007 a0012 a0013	a0001c0002 a0003c0042 a0004c0008 others(8): Show a0001c0002 a0003c0042 a0004c0008 a0005c0067 a0005c0068 a0007c0029 a0007c0066 a0007c0076 a0012c0024 a0012c0062 a0013c0030	a0001c0002t0001 a0003c0042t0001 a0004c0008t0005 others(8): Show a0001c0002t0001 a0003c0042t0001 a0004c0008t0005 a0005c0067t0001 a0005c0068t0005 a0007c0029t0001 a0007c0066t0001 a0007c0076t0001 a0012c0024t0001 a0012c0062t0001 a0013c0030t0001	a0001c0002t0001g0182 a0003c0042t0001g0018 a0004c0008t0005g0008 others(9): Show a0001c0002t0001g0182 a0003c0042t0001g0018 a0004c0008t0005g0008 a0005c0067t0001g0045 a0005c0068t0005g0257 a0007c0029t0001g0085 a0007c0029t0001g0089 a0007c0066t0001g0061 a0007c0076t0001g0258 a0012c0024t0001g0002 a0012c0062t0001g0084 a0013c0030t0001g0087	14	295	0.0475	837	c.533 others(854): Show c.5337+266_5337+267insTGGCTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCC TGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCA TGCCCACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGT GCCCCCTCCCTGCGGCTGCACCCAGGGCCGTGCCCACAGCGCCGGTCCCT GTGGCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCAC CCACGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCTGTG CCCACAGCACCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCC CCCTCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGC GGCTGCACCCTCGGCCGTGCCCACAGCACCCCCTCCCTGCGGCTCCATCC ACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGC CCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCC CCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGC GGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCC TCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGC CCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCC CCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
RAB11FIP3_chr16_420649_528011	492490	C C	CCGGGAGA others(830): Show CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG AGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0218 a0001c0001t0020g0218	1	250	0.0040	837	c.126 others(856): Show c.1265+3490_1265+3491insCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492490	C C	CCGGGAGA others(830): Show CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0020 a0006c0015t0020	a0006c0015t0020g0197 a0006c0015t0020g0197	1	250	0.0040	837	c.126 others(856): Show c.1265+3490_1265+3491insCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(830): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATAATATGTAATACACAATATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATATA AGCATATGTAATATATATTATACATTATTATATAAGCATATGTAATATAT ATTATACATTATTATATAAGCATATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0024 a0001c0001t0046g0024	1	19	0.0526	837	c.24+ others(854): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATAATA TGTAATACACAATATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAA TACATTATACATTATTATATAAGCATATGTAATATATATTATACATTATT ATATAAGCATATGTAATATATATTATACATTATTATATAAGCATATATAA TACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(830): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATATGT AATACACAATATATTATATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTAT ACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGT ATATGTAATATATATTATACATTATTATATAAGCATATAATATATAATAC ATAATACATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0053 a0001c0001t0024g0053	1	19	0.0526	837	c.24+ others(854): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATATGTAATACACAATATATTATATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACATTATACATTATTATA TAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATAT ATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATA TAAGCATATAATATATAATACATAATACATTATATATAAGCATATAACAA TACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(830): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02922.hp1 others(2): Show HG02615.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0018 a0001c0001t0001 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0017g0006 a0001c0001t0018g0004	5	178	0.0281	837	c.66+ others(852): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(830): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGG AGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAG GGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGAGG GAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGA GGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAG GGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGG GGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAG GGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAG GAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGC GGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0141 a0001c0001t0012g0141	1	30	0.0333	837	c.36 others(848): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGAGGGGGGAGGAGGG GAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGG GGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAA GGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGA GGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGAGG GAGGAGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGA GGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAG GGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGG GGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGG GGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGA GGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGG GGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGA GGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284179	G G	GGGTGGGG others(830): Show GGGTGGGGGGTTGGGGGGGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGG GGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTTGGTGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGGTTGAGTGAGGGGGGTGGGGGGTTTGGTGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGT GAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGTGAG GGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTTGGTGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGA GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGTTGGGT GAGGGGGTTGGGTGAGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGG TTGGGGGGGTTGAGTGAGGGGGGTGGGGGTGGGTGAGGGGGGTGGGGTGG GGGGGGTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGG GTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	282	0.0035	837	c.464 others(850): Show c.464+91_464+92insTGGGGGGTTGGGGGGGTTGGGTGAGGGGTTGG GGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTG GGGGGTTTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTTGGTG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTG AGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGG TGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTT GGGTGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGTGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGGGG GGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGAGGGGGGTGGGGGTGGGTG AGGGGGGTGGGGTGGGGGGGGTGGGTGAGGGGGGTGGGGTGGGGGGGTTG AGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGG GGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGG GTTGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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