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
C7orf50_chr7_992006_1143247	1116289	G G	GGATGATG others(220): Show GGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCC CACGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACC GACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCC ATCACCGACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCG GCTTCCATCACCGACGCCCACGCAGGAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19005.hp2 NA18944.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0188 a0001c0001t0004g0190	2	326	0.0061	227	c.129 others(246): Show c.129+10967_129+10968insATCCTGCGTGGGCGTCGGTGATGGAA GCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTG ATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCG TCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCG TGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCAT C	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1B_chr9_137872782_138129619	137960434	C C	CGCCACGT others(220): Show CGCCACGTGGGAGGGGAGATCGGCCTGAGGGATACCTGGGAGAGGGGAGA CGCCACCAGGGAGGGGAGGTCGGCCTGAGGGATGCCGGGAGAGACGGGAC GTCCGGGGAGAGGGGAGGTCGGTCTGAGGGACACGGGGCGTGGGGTGGTG AGGTAGGGGAGCGGGAAGGGGAGGTTGGCCTGAGGGACGCGGCGGTGGGG TGTGGGGGAGGTTGGCCTGACTGGGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02135.hp1 HG02145.hp1 others(3): Show HG01109.hp2 HG02135.hp1 HG02145.hp1 HG02809.hp2 HG03209.hp1 NA19000.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0044 a0002c0001 a0002c0004 others(3): Show a0001c0044 a0002c0001 a0002c0004 a0002c0020 a0004c0029 a0005c0038	a0001c0044t0005 a0002c0001t0002 a0002c0004t0001 others(3): Show a0001c0044t0005 a0002c0001t0002 a0002c0004t0001 a0002c0020t0002 a0004c0029t0036 a0005c0038t0023	a0001c0044t0005g0239 a0002c0001t0002g0188 a0002c0004t0001g0168 others(3): Show a0001c0044t0005g0239 a0002c0001t0002g0188 a0002c0004t0001g0168 a0002c0020t0002g0200 a0004c0029t0036g0206 a0005c0038t0023g0020	6	248	0.0242	227	c.133 others(246): Show c.1333+2748_1333+2749insCCACGTGGGAGGGGAGATCGGCCTGA GGGATACCTGGGAGAGGGGAGACGCCACCAGGGAGGGGAGGTCGGCCTGA GGGATGCCGGGAGAGACGGGACGTCCGGGGAGAGGGGAGGTCGGTCTGAG GGACACGGGGCGTGGGGTGGTGAGGTAGGGGAGCGGGAAGGGGAGGTTGG CCTGAGGGACGCGGCGGTGGGGTGTGGGGGAGGTTGGCCTGACTGGGGGG G	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	10/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1I_chr22_39565753_39694735	39601998	T T	TTCCTTCC others(220): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCT CTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02572.hp2 others(3): Show HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG03486.hp1 NA19043.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0022 a0003c0005 a0005c0007 a0001c0022 a0003c0005 a0005c0007	a0001c0022t0010 a0003c0005t0008 a0005c0007t0006 a0001c0022t0010 a0003c0005t0008 a0005c0007t0006	a0001c0022t0010g0004 a0003c0005t0008g0044 a0005c0007t0006g0097 others(3): Show a0001c0022t0010g0004 a0003c0005t0008g0044 a0005c0007t0006g0097 a0005c0007t0006g0098 a0005c0007t0006g0099 a0005c0007t0006g0101	6	236	0.0254	227	c.482 others(244): Show c.482+1348_482+1349insTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAPN5_chr11_77061971_77131155	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	382	0.0026	227	c.297 others(244): Show c.297+4910_297+4911insGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAG ACGGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGC AGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGCA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0259 a0001c0001t0008g0259	1	382	0.0026	227	c.297 others(244): Show c.297+4910_297+4911insGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG GCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCCATATCCCTCCCAGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	382	0.0026	227	c.297 others(244): Show c.297+4910_297+4911insGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCCATATCCCTCCCA GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02135.hp1 HG02602.hp2 others(1): Show HG00741.hp2 HG02135.hp1 HG02602.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0300 a0001c0001t0001g0325 a0001c0001t0003g0095 others(1): Show a0001c0001t0001g0300 a0001c0001t0001g0325 a0001c0001t0003g0095 a0001c0001t0003g0270	4	382	0.0105	227	c.297 others(244): Show c.297+4910_297+4911insGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATATCCCTCCCA GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18993.hp1 NA19005.hp1 HG03239.hp2 NA18993.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0066 a0001c0001t0003g0145 a0001c0001t0003g0153 a0001c0001t0001g0066 a0001c0001t0003g0145 a0001c0001t0003g0153	3	382	0.0079	227	c.297 others(244): Show c.297+4910_297+4911insGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCA GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098721	C C	CGGGGGGC others(220): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTC ACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGCACGGCTGGCCAGGCG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	382	0.0026	227	c.297 others(244): Show c.297+4910_297+4911insGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG GCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098728	G G	GCTGACCC others(220): Show GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCC TGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	382	0.0026	227	c.297 others(244): Show c.297+4915_297+4916insCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGG GGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGG GCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12			chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098731	A A	ACCCCCCC others(220): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTG ACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02258.hp2 HG02738.hp1 HG00408.hp2 HG02258.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0039 a0001c0001t0001g0125 a0001c0001t0020g0163 a0001c0001t0001g0039 a0001c0001t0001g0125 a0001c0001t0020g0163	3	382	0.0079	227	c.297 others(244): Show c.297+4925_297+4926insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCC CCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(220): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGG GAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0240 a0003c0005t0001g0240	1	364	0.0028	227	c.234 others(244): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(220): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0361 a0004c0008t0001g0361	1	364	0.0028	227	c.234 others(244): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(220): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG AAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAGGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0034 a0001c0001t0008g0034	1	364	0.0028	227	c.234 others(244): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCCTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTT CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(220): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGG GAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0322 a0002c0004t0002g0322	1	364	0.0028	227	c.234 others(244): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTC CCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(220): Show AAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGAGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGA GGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAG AAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGAGAAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	364	0.0028	227	c.234 others(244): Show c.234+6868_234+6869insCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(220): Show AAGAAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGA AGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0207 a0001c0002t0003g0207	1	364	0.0028	227	c.234 others(244): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCT TCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761461	A A	AAGAGGAG others(220): Show AAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0229 a0001c0002t0006g0229	1	364	0.0028	227	c.234 others(244): Show c.234+6846_234+6847insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCT CCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAAGAA others(220): Show AAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGA AGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	364	0.0028	227	c.234 others(244): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCT TCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAGGAG others(220): Show AAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0200 a0001c0002t0003g0200	1	364	0.0028	227	c.234 others(244): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCT CCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AGGAGGAA others(220): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0212 a0001c0002t0003g0212	1	364	0.0028	227	c.234 others(244): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCT TCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761479	A A	AAGAGGAG others(220): Show AAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02165.hp2 HG02155.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0170 a0001c0002t0003g0185 a0001c0002t0003g0170 a0001c0002t0003g0185	2	364	0.0055	227	c.234 others(244): Show c.234+6828_234+6829insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCT CCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CDH4_chr20_61247261_61945617	61383581	T T	TATATATC others(220): Show TATATATCACATATATGAACATATATAAGAATATATATCACATATATGAA CATATATAAGAATATATATCACATATATGAACATATATATGAATATATAT CACATATATGAACATATATATGAATATATATCACATATATGAACATATAT CACATATATGAATATATGATATATATAGAATATGTATCACATATATGAAT ATATGATATATATATGAATATGTATCAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02965.hp1 HG03516.hp2 HG01123.hp1 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0031 a0001c0001t0002 a0001c0001t0018 a0001c0001t0031	a0001c0001t0002g0088 a0001c0001t0018g0031 a0001c0001t0031g0089 a0001c0001t0002g0088 a0001c0001t0018g0031 a0001c0001t0031g0089	3	106	0.0283	227	c.169 others(248): Show c.169+128650_169+128651insCACATATATGAACATATATAAGAA TATATATCACATATATGAACATATATAAGAATATATATCACATATATGAA CATATATATGAATATATATCACATATATGAACATATATATGAATATATAT CACATATATGAACATATATCACATATATGAATATATGATATATATAGAAT ATGTATCACATATATGAATATATGATATATATATGAATATGTATCACATA TAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61383581	T T	TATATATC others(220): Show TATATATCACATATATGAACATATATAAGAATATATATCACATATATGAA CATATATATGAATATATATCACATATATGAACATATATATGAATATATAT CACATATATGAACATATATATGAATATATATCACATATATGAACATATAT CACATATATGAATATATGATATATATAGAATATGTATCACATATATGAAT ATATGATATATATATGAATATGTATCAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG01243.hp1 others(7): Show HG00423.hp1 HG00639.hp1 HG01243.hp1 HG01978.hp1 HG02040.hp1 HG02559.hp2 HG03453.hp1 HG03540.hp1 NA18960.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0013 others(3): Show a0001c0001 a0001c0003 a0001c0013 a0002c0004 a0002c0008 a0004c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0003t0005 a0001c0013t0006 a0002c0004t0003 a0002c0004t0027 a0002c0008t0025 a0004c0019t0001	a0001c0001t0001g0046 a0001c0001t0002g0060 a0001c0001t0014g0106 others(7): Show a0001c0001t0001g0046 a0001c0001t0002g0060 a0001c0001t0014g0106 a0001c0003t0005g0054 a0001c0013t0006g0036 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0027g0098 a0002c0008t0025g0024 a0004c0019t0001g0015	10	106	0.0943	227	c.169 others(248): Show c.169+128650_169+128651insCACATATATGAACATATATAAGAA TATATATCACATATATGAACATATATATGAATATATATCACATATATGAA CATATATATGAATATATATCACATATATGAACATATATATGAATATATAT CACATATATGAACATATATCACATATATGAATATATGATATATATAGAAT ATGTATCACATATATGAATATATGATATATATATGAATATGTATCACATA TAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61383581	T T	TATATATC others(220): Show TATATATCACATATATGAACATATATAAGAATATATATCACATATATGAA CATATATATGAATATATATCACATATATGAACATATATATGAATATATAT CACATATATGAACATATATATGAATATATATCACATATATGAACATATAT CACATATATGAATATATGATTTATATAGAATATGTATCACATATATGAAT ATATGATATATATATGAATATGTATCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp1 HG02723.hp2 others(2): Show HG02109.hp2 HG02723.hp1 HG02723.hp2 NA18906.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0008	a0001c0001t0018 a0001c0003t0037 a0001c0006t0006 others(2): Show a0001c0001t0018 a0001c0003t0037 a0001c0006t0006 a0002c0002t0005 a0002c0008t0004	a0001c0001t0018g0039 a0001c0003t0037g0023 a0001c0006t0006g0029 others(2): Show a0001c0001t0018g0039 a0001c0003t0037g0023 a0001c0006t0006g0029 a0002c0002t0005g0096 a0002c0008t0004g0041	5	106	0.0472	227	c.169 others(248): Show c.169+128650_169+128651insCACATATATGAACATATATAAGAA TATATATCACATATATGAACATATATATGAATATATATCACATATATGAA CATATATATGAATATATATCACATATATGAACATATATATGAATATATAT CACATATATGAACATATATCACATATATGAATATATGATTTATATAGAAT ATGTATCACATATATGAATATATGATATATATATGAATATGTATCACATA TAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CELF1_chr11_47460937_47558132	47541686	C C	CGAAAGAA others(220): Show CGAAAGAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	340	0.0029	227	c.-15 others(248): Show c.-154+11305_-154+11306insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCT TTC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CFAP46_chr10_132803392_132947570	132887567	C C	CCTCTCCC others(220): Show CCTCTCCCCTCTTCTCTCCTCTCCCTTCTTCTCTCTCCTCTCCTCTCCTC TTCTCTCCTCTCCCTTCTTCTCTCTCCTCTCCTCTCTCCTCTTTCACCTC TCTCTCCTCTCCTCTCTCTCTCCTCTCCTCTCTCTCTCCGCTCCTCTCTC TCTCCTCTCCCCTCTTCTCTCTCTCCTCTCCCCTCTTCTCTCCTCTCCCT TCTTCTCTCTCCTCTCCTCTCCCCTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0061 a0061	a0061c0092 a0061c0092	a0061c0092t0001 a0061c0092t0001	a0061c0092t0001g0125 a0061c0092t0001g0125	1	246	0.0041	227	c.330 others(246): Show c.3305-1609_3305-1608insAAGAGGGGAGAGGAGAGGAGAGAGAA GAAGGGAGAGGAGAGAAGAGGGGAGAGGAGAGAGAGAAGAGGGGAGAGGA GAGAGAGAGGAGCGGAGAGAGAGAGGAGAGGAGAGAGAGAGGAGAGGAGA GAGAGGTGAAAGAGGAGAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAG AAGAGGAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAGAAGAGGGGAGA G	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHRNA4_chr20_63338223_63366349	63353890	G G	GGTCTGTG others(220): Show GGTCTGTGGTCCTGGGGGGCTGTGGTCCTGGCGGGGGGGCTGCGGTCCTA GGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTT GTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGTGGGATGAA GTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGGGGGCCTGT GGTCCTGGGGGGCTGTGGTCCTGGGGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0086 a0001c0001t0027g0086	1	168	0.0060	227	c.383 others(244): Show c.383+2084_383+2085insTCCCCCAGGACCACAGCCCCCCAGGACC ACAGGCCCCCAGGACCACATTCCCTGCCAGGACCACAGTCCTCCCAGGAC TTCATCCCACCCTAGGGCTACAGTGCCTCCTGCAGAACTGCAGCCCCCAC AAGGATCACAGTTCTTGCCTGACCACAGCCCCCTAGGACTACAACACCCC TAGGACCGCAGCCCCCCCGCCAGGACCACAGCCCCCCAGGACCACAGAC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
COL23A1_chr5_178232618_178595393	178420475	T T	TCCCCCGC others(220): Show TCCCCCGCTCTTTCCTCCTCCCCTCCCCCCTTTTTCCTCCTCTCCTCCCC CTCCTCACTTTCCTCCTCCCCTCCCTGAGATGTGACCTCCCTCCTCCCCT CTCCCACTCTTTCTCCTTCCCCTCCCCCCTTCCCCCCCTTTCCCCCTCCC CTCCCTGAGATGTGACCTCCCTTCTCCCCTGCCCCTTCTCTTTCCTCCTC CCCTCCCCACCTCTATCCTCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	236	0.0042	227	c.362 others(248): Show c.362-113557_362-113556insGAGGGGAGGAGGATAGAGGTGGGG AGGGGAGGAGGAAAGAGAAGGGGCAGGGGAGAAGGGAGGTCACATCTCAG GGAGGGGAGGGGGAAAGGGGGGGAAGGGGGGAGGGGAAGGAGAAAGAGTG GGAGAGGGGAGGAGGGAGGTCACATCTCAGGGAGGGGAGGAGGAAAGTGA GGAGGGGGAGGAGAGGAGGAAAAAGGGGGGAGGGGAGGAGGAAAGAGCGG GGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178518432	G G	GTGGCCGG others(220): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGA GGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGAC CCCCCCAACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0112 a0002c0003t0002g0112	1	236	0.0042	227	c.361 others(246): Show c.361+42249_361+42250insGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGG GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTTGGGG GGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCA CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC A	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101359225	A A	ACCCCCCC others(220): Show ACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA CTCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCAGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0019 a0001c0009t0006g0019	1	174	0.0058	227	c.-38 others(238): Show c.-3808_-3807insCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACTCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCC AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCTGAC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		3649		chr7	TogoVar
COL4A2_chr13_110302284_110518209	110355522	G G	GAGGGCTG others(220): Show GAGGGCTGTACTAGCTCACCTGTGTGGGGGGAGGGCAGTACCAGCTCACC TGTGTGTGTGGGGGAGGGCTGCACTAGCTCACTTGTGTGTGTGGGGGAGG GCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCT GTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGC TGCACTAGCTCACCTGTGTGTGTGGGGT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0288 a0001c0004t0002g0288	1	372	0.0027	227	c.100 others(244): Show c.100-1943_100-1942insTACTAGCTCACCTGTGTGGGGGGAGGGC AGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACTTGT GTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGGGC TGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGTGT GTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGTAGGGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A1_chr21_45976770_46010048	45999917	G G	GGGGACAT others(220): Show GGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATAGGGGGACGTGT GAGGATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATG GGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGGACC CGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAACGTGTGA GGATCATGGGGGGATGTGTGAGGATCAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0108 a0001c0003t0007g0108	1	128	0.0078	227	c.177 others(244): Show c.1776+246_1776+247insAAGACGTGAGGATCATAGGGGGACGTGT GAGGATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATG GGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGGACC CGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAACGTGTGA GGATCATGGGGGGATGTGTGAGGATCATGGGACATGTGAGGATCATGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CROCC2_chr2_240901336_240998311	240923626	A A	AGCCCCCA others(220): Show AGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAA CCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACT AACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACA CTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCCACACTGACCCG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02129.hp2 HG02683.hp2 others(7): Show HG01175.hp1 HG02129.hp2 HG02683.hp2 HG02896.hp1 HG03579.hp1 NA18906.hp1 NA18948.hp2 NA18963.hp2 NA19088.hp1 NA20129.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0026 a0062	a0001c0022 a0002c0002 a0002c0011 others(4): Show a0001c0022 a0002c0002 a0002c0011 a0002c0033 a0008c0008 a0026c0078 a0062c0095	a0001c0022t0002 a0002c0002t0001 a0002c0002t0002 others(5): Show a0001c0022t0002 a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0033t0002 a0008c0008t0002 a0026c0078t0004 a0062c0095t0002	a0001c0022t0002g0343 a0002c0002t0001g0146 a0002c0002t0002g0323 others(7): Show a0001c0022t0002g0343 a0002c0002t0001g0146 a0002c0002t0002g0323 a0002c0011t0002g0243 a0002c0011t0002g0297 a0002c0033t0002g0291 a0008c0008t0002g0299 a0008c0008t0002g0300 a0026c0078t0004g0341 a0062c0095t0002g0298	10	350	0.0286	227	c.488 others(242): Show c.488+997_488+998insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923638	A A	AACCCGGC others(220): Show AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCC ACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCCACACTGACCCGGCCCCCACACTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18969.hp2 NA19056.hp2 HG00438.hp1 NA18969.hp2 NA19056.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0002 a0008c0008t0002 a0002c0002t0002 a0008c0008t0002	a0002c0002t0002g0328 a0008c0008t0002g0279 a0008c0008t0002g0330 a0002c0002t0002g0328 a0008c0008t0002g0279 a0008c0008t0002g0330	3	350	0.0086	227	c.488 others(242): Show c.488+997_488+998insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924462	C C	CCCCCCAC others(220): Show CCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCCACACTAACCCGGCCCCCCACACTGACCCAGTCCCCACACTA ACCCGGCCCCCACACTGACCCGGTCCCCACACTAACCCGGCCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCAC ACTAACCCAGTCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0024 a0024	a0024c0077 a0024c0077	a0024c0077t0001 a0024c0077t0001	a0024c0077t0001g0111 a0024c0077t0001g0111	1	350	0.0029	227	c.489 others(244): Show c.489-1258_489-1257insCACACTAACCCGGCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTG ACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCCGGTCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCAC ACTGACCCGGCCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDP1_chr18_79674803_79759503	79691768	T T	TGGGGAGG others(220): Show TGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTG GACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGG GTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	378	0.0027	227	c.315 others(244): Show c.315-3313_315-3312insCGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCG GGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGAGAAG AGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCC CAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTSS_chr1_150725188_150770778	150728583	C C	CCCCCCCC others(220): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0214 a0001c0001t0016g0214	1	344	0.0029	227	c.44 others(238): Show c.4462_*4463insTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		1604		chr1	TogoVar
CYP24A1_chr20_54148446_54178986	54162513	G G	GGTATGAG others(220): Show GGTATGAGGCCGTGCGCGGAGGCACCGTGGTGTCTAGTATGAGGCCGTGC GCTGAGGCACCGTGGTATAGATGCTGTGCGCGGAGGCACCGTGGCGTCTA GTATGAGGCCGTGCGCTGAGGCACCGTGGTATAGATGCTGTGCGCGGAGG CACCGTGGCGTCTAGTATGAGGCCGTGCGCTGAGGCACCGTGGTATAGAT GCTGTGCGCGGAGGCACCGTGGCGTCTA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0298 a0001c0004t0001g0298	1	456	0.0022	227	c.990 others(242): Show c.990+203_990+204insTAGACGCCACGGTGCCTCCGCGCACAGCAT CTATACCACGGTGCCTCAGCGCACGGCCTCATACTAGACGCCACGGTGCC TCCGCGCACAGCATCTATACCACGGTGCCTCAGCGCACGGCCTCATACTA GACGCCACGGTGCCTCCGCGCACAGCATCTATACCACGGTGCCTCAGCGC ACGGCCTCATACTAGACACCACGGTGCCTCCGCGCACGGCCTCATAC	CYP24A1	ENSG00000019186.10	transcript	ENST00000216862.8	protein_coding	7/11			chr20	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(220): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCT CCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCT CCCCTCCCCTCCTCCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0169 a0001c0002t0001g0170	2	292	0.0069	227	c.165 others(242): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAG GGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGG GGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGG GGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DIP2C_chr10_269201_694668	608576	C C	CCCCCCAC others(220): Show CCCCCCACACACACACACACCCCCCCCCACACACACACCCCCCCCCACAC ACACACCCCCCCCCACACACACACCCCCCCCACACACACACACACACACC CCCCCCCCACACACACACACCCCCCCACACACACACACATCCCCCCCCAC ACACACACACATCCCCCCCCACACACACACACATCCCCCCCCACACACAC ACACATCCCCCCCCACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	88	0.0114	227	c.85+ others(244): Show c.85+80917_85+80918insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGT GTGGGGGGGGATGTGTGTGTGTGTGGGGGGGTGTGTGTGTGTGGGGGGGG GGTGTGTGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGT GTGTGGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3741115	C C	CCACCATC others(220): Show CCACCATCACCACCACCACCACATCACCTCACCACCACCACCACCATCAC CACCACCATCACCACCATCACCTCACCACCACCACCACCATCACCTCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA TCACCACCACCACCATCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0046 a0001c0001t0018g0046	1	80	0.0125	227	c.135 others(246): Show c.1350+1219_1350+1220insATGGTGATGGTGATGGTGGTGGTGGT GATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGAGGTGATGGTGGTGGTGGTGGTGAGGTGATGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGTGGTGAGGTGATGTGGTGGTGGTGGTGATGGT G	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DNAH10_chr12_123757301_123940714	123912143	G G	GGGGGTCT others(220): Show GGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG TCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCT GTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGTCTGTCCT GGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGTCTGTCCTGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0041 a0041	a0041c0060 a0041c0060	a0041c0060t0001 a0041c0060t0001	a0041c0060t0001g0043 a0041c0060t0001g0043	1	170	0.0059	227	c.101 others(246): Show c.10135-951_10135-950insTCTGTCCCGGGGGGGTCTGTCCTGGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGG GTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTG TCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCC TGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGG G	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174520	C C	CATATATA others(220): Show CATATATATCATATATATGGGATATATATATATATCATATATATCATATA TATGGGATATATATATATATCATATATATGGGATATATATATCATATATA TCATATATATGGGATATATATATCATATATATCATATATATCATATATAT GGGATATATATATCATATATATCATATATATGGGATATATATATCATATA TATCATATATATGGGATATATATATGAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01261.hp2 others(19): Show HG01167.hp2 HG01169.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03516.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 others(19): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0318 a0003c0003t0001g0275 a0003c0003t0001g0284	22	336	0.0655	227	c.22- others(244): Show c.22-13324_22-13323insATCATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATGATATATATGATATATATATCCCATATATATGA TATATATGATATATATATCCCATATATATGATATATATATATATCCCATA TATATGATATATATGATATATATATATATCCCATATATATGATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOC2B_chr17_137789_186650	140867	A A	ACATGGGG others(220): Show ACATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG GGACATAGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0203 a0001c0002t0031g0203	1	339	0.0030	227	c.65 others(238): Show c.6573_*6574insCCCCTCACCAGGTCCCCTCACCAAGGTCCCCCCC ATGTCCCCTCACCAGGTCCCCTCACCAAGGTCCCCCCTATGTCCCCTCAC CAGGTCCCCTCACCAAGGTCCCCCCCATGTCCCCTCACCAGGTCCCCTCA CCAAGGTCCCCCCCATGTCCCCTCACCAGGTCCCCTCACCAAGGTCCCCC CCATGTCCCCTCACCAGGCCCCCTCACCAAGGTCCCCCCCATG	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1921		chr17	TogoVar
DYNC2I1_chr7_158851558_158951189	158917216	G G	GATTAAGG others(220): Show GATTAAGGATGATTGTGAAACGTCAACACGCTGGTTGACATTAAGGATGA TTGTGAAACCTCGACACGCTGGTTGACATTTAGGATGATTGTGAAACCTC GACACGGTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GACATTAAGGATGATTGTGAAACCTCGACACGCTGGTTGAGATTAAGGAT GATTGTGAAATGTTGACACGTGGTTGAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0018 a0001c0023t0018	a0001c0023t0018g0112 a0001c0023t0018g0112	1	274	0.0037	227	c.179 others(246): Show c.1792-1505_1792-1504insCGTCAACACGCTGGTTGACATTAAGG ATGATTGTGAAACCTCGACACGCTGGTTGACATTTAGGATGATTGTGAAA CCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCT GGTTGACATTAAGGATGATTGTGAAACCTCGACACGCTGGTTGAGATTAA GGATGATTGTGAAATGTTGACACGTGGTTGACATTAAGGATGATTGTGAA A	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137818791	G G	GTGTACCG others(220): Show GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCT GAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGC CATGTACCGAGACCGTAGAGAGGCTGAGGGGGGGGCGCCGTGTACCGAGA CCGTAGAGAGGCCGACTGAGGGGCGCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0169 a0001c0004t0001g0169	1	170	0.0059	227	c.354 others(244): Show c.3540+690_3540+691insGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG TACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCGT AGAGAGGCTGAGGGGGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGAC TGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EXD3_chr9_137301896_137428162	137328596	A A	ACGGGAGC others(220): Show ACGGGAGCTACACGGGACTACGCGGGACTACGCGGGACTACGCGGGACTA CGCGGGACTACACGGGAGCTACACGGGAGCTACACGGGAGCTACGCGGGA CTACGCGGGACTACGCGGGACTACACGGGACTACACGGGAGCTACACGGG ACTACGCGGGACTACGCGGGACTACGCGGGACTACGCGGGAGCTACGCGG GAGCTACACGGGACTACGCGGGACTACG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0012 a0009c0008t0001g0012	1	82	0.0122	227	c.199 others(246): Show c.1999-4454_1999-4453insCGTAGTCCCGCGTAGTCCCGTGTAGC TCCCGCGTAGCTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTA GTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAGTCCCGCGTAGTCCCGCGT AGTCCCGCGTAGCTCCCGTGTAGCTCCCGTGTAGCTCCCGTGTAGTCCCG CGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGTGTAGCTCCC G	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM168B_chr2_131042876_131098460	131063304	C C	CAACAATG others(220): Show CAACAATGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	260	0.0039	227	c.155 others(244): Show c.155-7610_155-7609insACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCATTGTT	FAM168B	ENSG00000152102.18	transcript	ENST00000389915.4	protein_coding	3/6			chr2	TogoVar
FANCD2_chr3_10021437_10106932	10070509	G G	GCTCAGCC others(220): Show GCTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGTCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCAGTCCGGGAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0178 a0002c0002t0017g0178	1	242	0.0041	227	c.249 others(246): Show c.2495-2362_2495-2361insCTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCACCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGG T	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43			chr3	TogoVar

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