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
ATXN7L1_chr7_105599772_105881599	105724807	T T	TCTCTTAT others(306): Show TCTCTTATTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCC GCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01167.hp2 others(25): Show HG00673.hp2 HG00735.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG03130.hp1 HG03471.hp2 HG03491.hp2 HG03688.hp2 NA18945.hp1 NA18970.hp2 NA18971.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19086.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0006 a0001c0013 others(3): Show a0001c0001 a0001c0006 a0001c0013 a0002c0002 a0005c0012 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0028 a0001c0001t0048 a0001c0001t0050 a0001c0001t0064 a0001c0006t0001 a0001c0013t0003 a0002c0002t0030 a0005c0012t0008 a0006c0010t0007	a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0088 others(25): Show a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0174 a0001c0001t0002g0016 a0001c0001t0002g0186 a0001c0001t0003g0118 a0001c0001t0004g0039 a0001c0001t0004g0219 a0001c0001t0006g0116 a0001c0001t0009g0097 a0001c0001t0010g0091 a0001c0001t0012g0052 a0001c0001t0014g0123 a0001c0001t0015g0109 a0001c0001t0016g0069 a0001c0001t0016g0176 a0001c0001t0021g0227 a0001c0001t0028g0037 a0001c0001t0028g0114 a0001c0001t0048g0132 a0001c0001t0050g0155 a0001c0001t0064g0098 a0001c0006t0001g0112 a0001c0013t0003g0047 a0002c0002t0030g0212 a0005c0012t0008g0092 a0006c0010t0007g0096	28	252	0.1111	313	c.356 others(332): Show c.356-59520_356-59519insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAGAGAATAAGAG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105724807	T T	TCTCTTAT others(306): Show TCTCTTATTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCC GCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0210 a0001c0001t0056g0210	1	252	0.0040	313	c.356 others(332): Show c.356-59520_356-59519insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAGAGAATAAGAG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82972269	C C	CCACACCA others(306): Show CCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAG GGGATAGAAGGACCCAGTACTGACCACACCACACCACAGGGGCTAGAAGG ACCTGGTGCCGACCACAGCACACCACAGGGGCCAGAAGGACCTGGTGCCG ACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACACCAC ACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGA TAGAAGGACCCAGTACTGACCACACCACACCACAGGGGCTAGAAGGACCT GGTGCCGACCACAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0185 a0001c0001t0010g0185	1	266	0.0038	313	c.460 others(330): Show c.460-6524_460-6523insCTGTGGTCGGCACCAGGTCCTTCTAGCC CCTGTGGTGTGGTGTGGTCAGTACTGGGTCCTTCTATCCCCTGTGGTGTG GTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT ACCGGGTCCTTCTGGCCCCTATGAGTGTGGTGTGGTCGGCACCAGGTCCT TCTGGCCCCTGTGGTGTGCTGTGGTCGGCACCAGGTCCTTCTAGCCCCTG TGGTGTGGTGTGGTCAGTACTGGGTCCTTCTATCCCCTGTGGTGTGGTGT GGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAZ1B_chr7_73435406_73527293	73479096	A A	AGGTACAT others(306): Show AGGTACATTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0197 a0001c0003t0006g0197	1	200	0.0050	313	c.892 others(328): Show c.892-528_892-527insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAGAAAATGTACC	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	6/19			chr7	TogoVar
BCAS3_chr17_60672851_61397831	60735345	T T	TAAAAAAC others(306): Show TAAAAAACCTGGTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGATTGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG01952.hp2 others(5): Show HG01099.hp1 HG01891.hp1 HG01952.hp2 HG02615.hp1 HG02886.hp2 HG02970.hp1 HG03225.hp1 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0009 a0001c0002 a0001c0004 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0004c0009t0001	a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(5): Show a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0001g0058 a0004c0009t0001g0055	8	74	0.1081	313	c.322 others(332): Show c.322-11838_322-11837insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGATTGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAACCTGGTGAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24837036	G G	GAAAAAAA others(306): Show GAAAAAAAGAAAGAAAAGAAAGAGAGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19083.hp2 HG02165.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0220 a0001c0001t0005g0224 a0001c0001t0005g0220 a0001c0001t0005g0224	2	322	0.0062	313	c.818 others(328): Show c.818-441_818-440insTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC TCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCCTCTCTTTCTTTTCTTTCTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(306): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0002	1	416	0.0024	313	c.-42 others(324): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(306): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGGGGCC CCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	394	0.0025	313	c.-44 others(324): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCGCCGCC GCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACAGCGCC CCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGCCGCGC CCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGGCGCCC CCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCCCGGGAGC CGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C1orf87_chr1_59985394_60078770	60004924	G G	GGCAGCTT others(306): Show GGCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCT TTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	382	0.0026	313	c.119 others(332): Show c.1193-3769_1193-3768insTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATA CAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTC TGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGC	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	9/11			chr1	TogoVar
C2CD4C_chr19_400445_414147	403995	T T	TGTGGGGG others(306): Show TGTGGGGGGGGGGACGGGGCCCTGTCCCGAGGGGTGTGAGGGGGGGACGG GGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTG TGGGGGGGACGGGTCCTGTCCTGAGGGGTGTGGGGGGGACGGGTCCTGCC CTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGG GACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGG GGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGC TCCTGCCCTGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0045 a0001c0001t0079g0045	1	322	0.0031	313	c.31 others(324): Show c.3100_*3101insCCCTCAGGGCAGGAGCCCGTCCCCCCCCCACACC CCTCAGGGCAGGACCCGTCCCCCCCACACCCCTCAGGGCAGGACCCGTCC CCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGC AGGACCCCGTCCCCCCCCCACACCCCTCAGGGCAGGACCCGTCCCCCCCA CACCCCTCAGGACAGGACCCGTCCCCCCCACACCCCTCAGGGCAGGACCC CGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACACCCC TCGGGACAGGGCCCCGTCCCCCCCCCCAC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1449		chr19	TogoVar
CACNA1I_chr22_39565753_39694735	39601935	T T	TTCCCTCC others(306): Show TTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTC CCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0029 a0002c0013t0029	a0002c0013t0029g0164 a0002c0013t0029g0164	1	236	0.0042	313	c.482 others(330): Show c.482+1285_482+1286insCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D3_chr3_54117552_55079557	54970467	G G	GTTCCTCA others(306): Show GTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCC TCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCTC ACCCCTCTCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCCC TCCCCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCTC CCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTCC TCTCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	118	0.0085	313	c.255 others(330): Show c.2556+667_2556+668insTCTCCTTTCTTCTCCTCTCCTCCCCTCC CTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTTCCCTCCCCTCCTCTCCCCTCCTCTCT TCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGTCCCCTCCTCTCCCC CGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(306): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	328	0.0031	313	c.100 others(332): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CALY_chr10_133319072_133341896	133333743	T T	TGGAAGGC others(306): Show TGGAAGGCTCTGAGGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGT GAAAGGATCTGAAAGGGGAAGGATCTGAGGGGAAAGCGCCTGAGGAGGGA AGGACCTGAGGGGGGAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAG GCTCTGAACGGGGAAGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGAT GGTGGAAGGATCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAGGGG GGAAGGCTCTGAGGGGGGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGG AAGGATCTGAGGGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0091 a0001c0001t0013g0091	1	250	0.0040	313	c.-21 others(330): Show c.-21+3090_-21+3091insCCCCTCAGATCCTTCCCCCCTCAGAGCC TTCCCCCCTCAGATCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTT CTCCCTCATGTCCTTCCCCCCTCAGATCCTTCCACCATCAGATCCTTACC CTTCTGATCCTCCTCAGATCCTTCCCCGTTCAGAGCCTTCCACTCTCAGA TCATTCCGCCCTCAGATTTTTCCCCCCTCAGGTCCTTCCCTCCTCAGGCG CTTTCCCCTCAGATCCTTCCCCTTTCAGATCCTTTCACCCTCAGATCCTT CTGTCCACAGATCCTATCCCGCCTCAGAGCCTTCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(306): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGA AGCTCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGG CTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTG AAAGGCGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGG GGGGAAGGCTCTGAGGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0172 a0002c0002t0003g0172	1	250	0.0040	313	c.-21 others(330): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCC CCGCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCC TCATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAG AGCCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCTTCCCCTTCAGAGCC TTCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(306): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGA AGCTCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGG CTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTG AAAGGCGAAGGATCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAG GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02738.hp2 HG03654.hp2 HG01257.hp2 HG02738.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060	3	250	0.0120	313	c.-21 others(330): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCC TCATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAG AGCCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCTTCCCCTTCAGAGCC TTCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(306): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGGGGTC GGCCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	198	0.0051	313	c.377 others(334): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(306): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19001.hp1 HG03195.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0231 a0001c0002t0002g0129 a0001c0001t0001g0231 a0001c0002t0002g0129	2	271	0.0074	313	c.143 others(332): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(306): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG03516.hp1 HG01884.hp2 HG02572.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0101 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0001g0101 a0001c0001t0005g0005 a0001c0001t0005g0006	3	271	0.0111	313	c.143 others(332): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(306): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0193 a0001c0002t0002g0193	1	271	0.0037	313	c.143 others(332): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCATGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CCDC126_chr7_23592382_23649708	23626050	T T	TAAAATTT others(306): Show TAAAATTTTATGTAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01070.hp2 others(29): Show HG00099.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02602.hp1 HG02723.hp2 HG02735.hp2 HG03453.hp2 HG03831.hp2 HG06807.hp1 NA18906.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA19004.hp2 NA19030.hp1 NA19080.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0016g0015	32	380	0.0842	313	c.238 others(332): Show c.238+14513_238+14514insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAATTTTATGTAGTA	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC88A_chr2_55282842_55424856	55297381	A A	AATATATA others(306): Show AATATATAATATATATTATATATAATATATATAATATATATTATATATAA TATATATTATATATTATATATTATATATAAATATATATAATATATATTAT ATAATATATATTATATAATATATATTATATATAAATATATATAATATATA ATATATATTATATATAAATATATATAATATATAATATATATTATATATAA ATATATATAATATATAATATATATTATATATAAATATATATAATATATAA TATATATTATATATAAATATATATAATATATAATATATATTATATATAAA TATATATAATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0006 a0012c0011t0006	a0012c0011t0006g0010 a0012c0011t0006g0010	1	316	0.0032	313	c.482 others(330): Show c.4826-859_4826-858insATATATTATATATATTTATATATAATAT ATATTATATATTATATATATTTATATATAATATATATTATATATTATATA TATTTATATATAATATATATTATATATTATATATATTTATATATAATATA TATTATATATTATATATATTTATATATAATATATATTATATATTATATAT ATTTATATATAATATATATTATATAATATATATTATATAATATATATTAT ATATATTTATATATAATATATAATATATAATATATATTATATATAATATA TATTATATATATTATATATAATATATATTATATAT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCDC91_chr12_28185456_28555166	28264365	T T	TAATAATT others(306): Show TAATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTG GGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTA GAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0223 a0003c0003t0001g0223	1	242	0.0041	313	c.109 others(330): Show c.109+4936_109+4937insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG TGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAATAATTTTTTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(306): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTCTTC TTTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	424	0.0024	313	c.774 others(328): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCTCTTCTTTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDC42BPA_chr1_226984865_227323492	227275239	T T	TAGAAAGC others(306): Show TAGAAAGCAGAGGGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0303 a0002c0002t0001g0303	1	352	0.0028	313	c.179 others(332): Show c.179-21085_179-21084insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTTGTATT TTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCATGCCCTCTGCTTTCT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDH13_chr16_82621969_83805640	82878503	G G	GGAAAGAA others(306): Show GGAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGCTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCTGCCA CTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00597.hp2 others(21): Show HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01261.hp1 HG02027.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03942.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0002c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0020 a0001c0002t0021 a0001c0003t0001 a0001c0003t0032 a0001c0004t0003 a0001c0004t0030 a0001c0006t0031 a0001c0007t0001 a0001c0007t0004 a0002c0009t0002	a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0007g0063 others(21): Show a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0007g0063 a0001c0001t0008g0066 a0001c0001t0011g0081 a0001c0002t0001g0012 a0001c0002t0001g0030 a0001c0002t0001g0059 a0001c0002t0001g0084 a0001c0002t0002g0043 a0001c0002t0006g0027 a0001c0002t0006g0034 a0001c0002t0009g0075 a0001c0002t0020g0099 a0001c0002t0021g0008 a0001c0003t0001g0004 a0001c0003t0032g0060 a0001c0004t0003g0058 a0001c0004t0003g0103 a0001c0004t0030g0102 a0001c0006t0031g0005 a0001c0007t0001g0080 a0001c0007t0004g0107 a0002c0009t0002g0050	24	110	0.2182	313	c.157 others(332): Show c.157+20037_157+20038insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGCTGAAACCTCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCTGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61337300	G G	GATGATAA others(306): Show GATGATAATGATGGTGGTATGATGATGTGGATGGTAATGGTGATGATAAC AGTGGATAATGATGGCAATGCAAGTGATGATATTGATGATGATGGTGATG ACAGTGCTGATAATGATCATAATGGTGATGATGATGATGGTGATTATTGT AATAGTGATGACAGTGATGATGATAATGATGGTGATAAGAGTGGATAATA ATAATAATGATGATGGTGATTTTAATAGTGATGATGATGTTAAGATGATT ATGGTGATGATGATAGTGATGATGATGGTGATGATAACAGTGGATACTGA TAATGATGGTGATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0005 a0001c0003 a0002c0002 a0002c0005	a0001c0003t0032 a0002c0002t0023 a0002c0005t0007 a0001c0003t0032 a0002c0002t0023 a0002c0005t0007	a0001c0003t0032g0040 a0002c0002t0023g0102 a0002c0005t0007g0097 a0001c0003t0032g0040 a0002c0002t0023g0102 a0002c0005t0007g0097	3	106	0.0283	313	c.169 others(332): Show c.169+82365_169+82366insGATAATGATGGTGGTATGATGATGTG GATGGTAATGGTGATGATAACAGTGGATAATGATGGCAATGCAAGTGATG ATATTGATGATGATGGTGATGACAGTGCTGATAATGATCATAATGGTGAT GATGATGATGGTGATTATTGTAATAGTGATGACAGTGATGATGATAATGA TGGTGATAAGAGTGGATAATAATAATAATGATGATGGTGATTTTAATAGT GATGATGATGTTAAGATGATTATGGTGATGATGATAGTGATGATGATGGT GATGATAACAGTGGATACTGATAATGATGGTGATAAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61337300	G G	GATGATAA others(306): Show GATGATAATGATGGTGGTATGATGATGTGGATGGTAATGGTGATGATAAC AGTGGATAATGATGGTAATGCAAGTGATGATATTGATGATGATGGTGATG ACAGTGCTGATAATGATCATAATGGTGATGATGATGATGGTGATTATTGT AATAGTGATGACAGTGATGATGATAATGATGGTGATAAGAGTGGATAATG ATAATAATGATGATGGTGATTTTAATAGTGATGATGATGTTAAGATGATT ATGGTGATGATGATAGTGATGATGATGGTGATGATAACAGTGGATACTGA TAATGATGGTGATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG01099.hp1 others(38): Show HG00423.hp1 HG00639.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02109.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG04115.hp1 HG04204.hp1 NA18941.hp1 NA18941.hp2 NA18952.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0002c0002 a0002c0004 a0002c0005 a0002c0016 a0002c0027 a0003c0017 a0003c0018 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0051 a0001c0003t0017 a0001c0003t0036 a0001c0003t0052 a0001c0003t0053 a0001c0006t0021 a0001c0006t0029 a0001c0006t0049 a0001c0011t0008 a0002c0002t0004 a0002c0002t0012 a0002c0002t0016 a0002c0002t0041 a0002c0004t0002 a0002c0004t0003 a0002c0004t0013 a0002c0004t0026 a0002c0004t0027 a0002c0005t0020 a0002c0005t0024 a0002c0016t0004 a0002c0027t0015 a0003c0017t0002 a0003c0018t0045 a0006c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0046 others(38): Show a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0007 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0011g0005 a0001c0001t0014g0106 a0001c0001t0017g0065 a0001c0001t0018g0031 a0001c0001t0051g0083 a0001c0003t0017g0067 a0001c0003t0036g0043 a0001c0003t0052g0064 a0001c0003t0053g0074 a0001c0006t0021g0004 a0001c0006t0029g0035 a0001c0006t0049g0071 a0001c0011t0008g0003 a0001c0011t0008g0101 a0002c0002t0004g0077 a0002c0002t0012g0104 a0002c0002t0016g0073 a0002c0002t0016g0075 a0002c0002t0041g0087 a0002c0004t0002g0001 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0013g0021 a0002c0004t0026g0050 a0002c0004t0027g0098 a0002c0005t0020g0056 a0002c0005t0024g0048 a0002c0016t0004g0042 a0002c0027t0015g0079 a0003c0017t0002g0053 a0003c0018t0045g0052 a0006c0019t0001g0015	41	106	0.3868	313	c.169 others(332): Show c.169+82365_169+82366insGATAATGATGGTGGTATGATGATGTG GATGGTAATGGTGATGATAACAGTGGATAATGATGGTAATGCAAGTGATG ATATTGATGATGATGGTGATGACAGTGCTGATAATGATCATAATGGTGAT GATGATGATGGTGATTATTGTAATAGTGATGACAGTGATGATGATAATGA TGGTGATAAGAGTGGATAATGATAATAATGATGATGGTGATTTTAATAGT GATGATGATGTTAAGATGATTATGGTGATGATGATAGTGATGATGATGGT GATGATAACAGTGGATACTGATAATGATGGTGATAAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61337300	G G	GATGATAA others(306): Show GATGATAATGATGGTGGTATGATGATGTGGATGGTAATGGTGATGATAAC AGTGGATAATGATGGTAATGCAGGTGATGATATTGATGATGATGGTGATG ACAGTGCTGATAATGATCATAATGGTGATGATGATGATGGTGATTATTGT AATAGTGATGACAGTGATGATGATAATGATGGTGATAAGAGTGGATAATG ATAATAATGATGATGGTGATTTTAATAGTGATGATGATGTTAAGATGATT ATGGTGATGATGATAGTGATGATGATGGTGATGATAACAGTGGATACTGA TAATGATGGTGATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0008 a0001c0012t0001g0008	1	106	0.0094	313	c.169 others(332): Show c.169+82365_169+82366insGATAATGATGGTGGTATGATGATGTG GATGGTAATGGTGATGATAACAGTGGATAATGATGGTAATGCAGGTGATG ATATTGATGATGATGGTGATGACAGTGCTGATAATGATCATAATGGTGAT GATGATGATGGTGATTATTGTAATAGTGATGACAGTGATGATGATAATGA TGGTGATAAGAGTGGATAATGATAATAATGATGATGGTGATTTTAATAGT GATGATGATGTTAAGATGATTATGGTGATGATGATAGTGATGATGATGGT GATGATAACAGTGGATACTGATAATGATGGTGATAAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(306): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG03453.hp2 others(3): Show HG02559.hp1 HG02630.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0005t0007 a0001c0008t0011 others(1): Show a0001c0001t0001 a0001c0005t0007 a0001c0008t0011 a0001c0009t0004	a0001c0001t0001g0003 a0001c0005t0007g0084 a0001c0008t0011g0181 others(3): Show a0001c0001t0001g0003 a0001c0005t0007g0084 a0001c0008t0011g0181 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028	6	196	0.0306	313	c.742 others(332): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174290428	T T	TAAATTTG others(306): Show TAAATTTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0181 a0002c0002t0022g0181	1	388	0.0026	313	c.-14 others(332): Show c.-148+6494_-148+6495insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGTT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP44_chr4_174278911_174325328	174290428	T T	TAAATTTG others(306): Show TAAATTTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCTGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp2 others(27): Show HG00099.hp1 HG00140.hp2 HG00544.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG02004.hp1 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp2 HG02735.hp2 HG03017.hp2 HG03490.hp2 HG03669.hp2 HG03942.hp1 NA18954.hp2 NA20752.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0015 a0002c0002t0020 others(1): Show a0002c0002t0003 a0002c0002t0015 a0002c0002t0020 a0002c0002t0024	a0002c0002t0003g0004 a0002c0002t0003g0034 a0002c0002t0003g0035 others(23): Show a0002c0002t0003g0004 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0168 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0201 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0015g0004 a0002c0002t0020g0034 a0002c0002t0024g0004	30	388	0.0773	313	c.-14 others(332): Show c.-148+6494_-148+6495insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT GAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGTT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP89_chr19_32870925_32976958	32954827	G G	GCTAATTT others(306): Show GCTAATTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0112 a0004c0005t0005g0112	1	386	0.0026	313	c.306 others(330): Show c.306-1027_306-1026insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAGAAAAATTAG	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	3/18			chr19	TogoVar
CFAP90_chr5_7825378_7856133	7845926	T T	TGACACTC others(306): Show TGACACTCACATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGAGGTTTCACAGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(98): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02132.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG04184.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19074.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0005 a0003c0003 others(1): Show a0001c0001 a0001c0005 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0005t0006 a0003c0003t0001 a0004c0004t0005	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0038 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0017 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0010g0092 a0001c0001t0010g0097 a0001c0001t0013g0088 a0001c0001t0013g0105 a0001c0001t0017g0060 a0001c0001t0020g0098 a0001c0001t0021g0093 a0001c0005t0006g0009 a0001c0005t0006g0053 a0001c0005t0006g0149 a0003c0003t0001g0003 a0003c0003t0001g0091 a0004c0004t0005g0071	101	420	0.2405	313	c.147 others(330): Show c.147+4948_147+4949insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACTGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAATGTGAGTGTC	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	1/2			chr5	TogoVar
CHRM3_chr1_239381568_239920450	239616845	T T	TAAAAATA others(306): Show TAAAAATATTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0082	1	116	0.0086	313	c.-31 others(334): Show c.-312-15367_-312-15366insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATATTCCA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMC2_chr16_80961448_81011885	80963378	T T	TGAAAGGA others(306): Show TGAAAGGATGCCCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAACATT AGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01069.hp1 others(67): Show HG00099.hp2 HG00140.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01975.hp1 HG01981.hp2 HG02027.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 NA18522.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18974.hp2 NA18984.hp1 NA18990.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19067.hp1 NA19070.hp1 NA19078.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(38): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0123 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0156 a0002c0002t0054 a0002c0002t0090 a0003c0003t0027	a0001c0001t0008g0007 a0001c0001t0008g0035 a0001c0001t0009g0037 others(55): Show a0001c0001t0008g0007 a0001c0001t0008g0035 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0179 a0001c0001t0009g0192 a0001c0001t0010g0004 a0001c0001t0010g0057 a0001c0001t0019g0036 a0001c0001t0019g0188 a0001c0001t0019g0215 a0001c0001t0020g0034 a0001c0001t0020g0185 a0001c0001t0020g0190 a0001c0001t0024g0265 a0001c0001t0024g0267 a0001c0001t0024g0270 a0001c0001t0026g0178 a0001c0001t0026g0181 a0001c0001t0026g0189 a0001c0001t0040g0033 a0001c0001t0043g0251 a0001c0001t0043g0259 a0001c0001t0044g0252 a0001c0001t0044g0254 a0001c0001t0045g0262 a0001c0001t0045g0264 a0001c0001t0046g0261 a0001c0001t0046g0269 a0001c0001t0055g0056 a0001c0001t0056g0058 a0001c0001t0057g0055 a0001c0001t0118g0170 a0001c0001t0119g0169 a0001c0001t0120g0168 a0001c0001t0123g0268 a0001c0001t0127g0176 a0001c0001t0128g0175 a0001c0001t0129g0236 a0001c0001t0130g0263 a0001c0001t0131g0186 a0001c0001t0132g0272 a0001c0001t0133g0242 a0001c0001t0134g0253 a0001c0001t0135g0237 a0001c0001t0136g0238 a0001c0001t0137g0239 a0001c0001t0138g0240 a0001c0001t0139g0266 a0001c0001t0140g0260 a0001c0001t0141g0284 a0001c0001t0149g0180 a0001c0001t0150g0184 a0001c0001t0151g0182 a0001c0001t0156g0243 a0002c0002t0054g0052 a0002c0002t0090g0073 a0003c0003t0027g0012	70	408	0.1716	313	c.12 others(326): Show c.12714_*12715insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCACCCGCTACCACGCCCGGCTAATGTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCAAAGGGCATCCTTTC	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		3069		chr16	TogoVar
COA1_chr7_43634257_43734523	43691425	G G	GAAAGAAA others(306): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGA GAAAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAA AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAAAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	384	0.0026	313	c.-39 others(332): Show c.-39+38003_-39+38004insTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTTTCTCTCTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COL3A1_chr2_188969373_189017746	188989139	T T	TAATATTC others(306): Show TAATATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03225.hp1 others(3): Show HG03139.hp1 HG03139.hp2 HG03225.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0001 a0001c0001t0001 a0011c0017t0001	a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 others(3): Show a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0011c0017t0001g0102	6	376	0.0160	313	c.637 others(328): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAATATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	188989142	T T	TATTCCTA others(306): Show TATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00621.hp2 others(24): Show HG00438.hp1 HG00609.hp1 HG00621.hp2 HG02074.hp2 HG02258.hp2 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp2 NA18982.hp2 NA19054.hp2 NA19066.hp1 NA19079.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0006t0003 a0001c0001t0001 a0001c0001t0003 a0001c0006t0003	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(21): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0003g0092 a0001c0001t0003g0114 a0001c0006t0003g0004 a0001c0006t0003g0011 a0001c0006t0003g0091 a0001c0006t0003g0115	27	376	0.0718	313	c.637 others(328): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(306): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG GAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGG CTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCT GGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0325 a0001c0003t0001g0325	1	412	0.0024	313	c.630 others(328): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTG GGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD10_chr5_116080025_116298287	116158170	C C	CCTCCCTC others(306): Show CCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT CTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCC CTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTC TCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGT CTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCC CTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTC TCCGTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	350	0.0029	313	c.510 others(332): Show c.510+23996_510+23997insCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(306): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	350	0.0029	313	c.510 others(332): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116163180	T T	TAGAATGT others(306): Show TAGAATGTATTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	350	0.0029	313	c.510 others(332): Show c.510+29016_510+29017insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAGAATGTATTTCTT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPB1_chr11_14452512_14504811	14478464	T T	TTTTTTTT others(306): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTGCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18982.hp2 NA18998.hp2 NA18962.hp1 NA18982.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0001g0359 a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0001g0359	3	386	0.0078	313	c.135 others(332): Show c.1358+1104_1358+1105insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21			chr11	TogoVar
COX10_chr17_14064504_14213677	14185282	T T	TGGTTTTT others(306): Show TGGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20129.hp2 HG01884.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0312 a0001c0001t0011g0314 a0001c0001t0011g0312 a0001c0001t0011g0314	2	322	0.0062	313	c.696 others(330): Show c.696-6692_696-6691insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCGGTTTTTGTTTTTTT	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(306): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCAAGCTC CGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGGCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	330	0.0030	313	c.591 others(328): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89588165	A A	ACCCACAG others(306): Show ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTG TCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0275 a0003c0006t0003g0275	1	348	0.0029	313	c.928 others(328): Show c.928-507_928-506insACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597940	C C	CCCGCCCA others(306): Show CCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCGTCCATCCA TCCCCCCGCCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTC CACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCA CCCATCCGTCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	348	0.0029	313	c.13 others(324): Show c.1319_*1320insCCGCCCACCCATCCGTCCACCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCGTCCATCCATCCCCCCGCCCACCCATCCATCCACCCATCCCCCC ACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCC CCACCCATCCGTCCACCCATCCGTCCACT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		695		chr16	TogoVar
CPT1C_chr19_49686116_49718731	49701930	T T	TTATTTAT others(306): Show TTATTTATATATGTATATATATTTATATATATGTATATATATTTATTTAT ATATGTATATATATTTATATATGTATATATATTTATATATGTATATATAT TTATATATGTATATTTATTTATATATGTATATTTATTTATATATGTATAT ATATTTATATATAAATAAATATATTTATATATAAATATATATATTTATTT ATATATAAATAAAGGTTATTTATATATAAATATATATATTTTTATATATA AATAAAGGTTATTTATATATAAATATATATATATTTATATATAAATAAAG GTTATTTATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG02109.hp2 HG02965.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0002 a0004c0008t0002 a0001c0002t0002 a0004c0008t0002	a0001c0002t0002g0207 a0004c0008t0002g0208 a0001c0002t0002g0207 a0004c0008t0002g0208	2	350	0.0057	313	c.693 others(328): Show c.693+296_693+297insTATTTATATATGTATATATATTTATATATA TGTATATATATTTATTTATATATGTATATATATTTATATATGTATATATA TTTATATATGTATATATATTTATATATGTATATTTATTTATATATGTATA TTTATTTATATATGTATATATATTTATATATAAATAAATATATTTATATA TAAATATATATATTTATTTATATATAAATAAAGGTTATTTATATATAAAT ATATATATTTTTATATATAAATAAAGGTTATTTATATATAAATATATATA TATTTATATATAAATAAAGGTTATTTATATATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(306): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	324	0.0031	313	c.101 others(330): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar

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