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
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(224): Show TATATATAATATATAATATATATTATATATAATATATATTATATATAATA TATAATATATATTATATATAATATATATTATATATAATATATAATATATA TTATATATAATATATATTATATATTATATATAATATATTATATATATTAT ATAATATATTATATAATATATATTATAAAATATATATTATATAAAATATA TATTATATATTATATATATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0172 a0003c0002t0001g0172	1	218	0.0046	231	c.314 others(250): Show c.314-50897_314-50896insTATATAATATATAATATATATAATAT ATAATATATATTTTATATAATATATATTTTATAATATATATTATATAATA TATTATATAATATATATAATATATTATATATAATATATAATATATATTAT ATATAATATATATTATATATTATATATAATATATATTATATATAATATAT ATTATATATTATATATAATATATATTATATATAATATATATTATATATTA TATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C18orf63_chr18_74310839_74364189	74361934	A A	AATTATAT others(224): Show AATTATATATTTACGTATAATATAATTTATAATTATATATTTACGTATAA TATAATTTATAATTATATATTTACGTATAATATAATTTATAATTATATAC GTATAATATAATTTATATTATATATGTATATAATATAATTTATAATTATA TATTTATATATAATATAATTTATATTATATATGTATATAATATAATTTAT AATTATATTTTATATATAATATAATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0056 a0004c0005t0004g0056	1	372	0.0027	231	c.54 others(242): Show c.5487_*5488insATTATATATTTACGTATAATATAATTTATAATTA TATATTTACGTATAATATAATTTATAATTATATATTTACGTATAATATAA TTTATAATTATATACGTATAATATAATTTATATTATATATGTATATAATA TAATTTATAATTATATATTTATATATAATATAATTTATATTATATATGTA TATAATATAATTTATAATTATATTTTATATATAATATAATTTATATT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2746		chr18	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(224): Show TGGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGG CCCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCTGTCCCGAGGGGTGTG AGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGAGGGGGGGACGGGGTCC TGTCCCGAGGGGTGTGAGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGG GGGGGACGGGGTCCTGCCCCGAGGGGTGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0092 a0001c0001t0112g0092	1	322	0.0031	231	c.30 others(242): Show c.3065_*3066insCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCC ACACCCCTCGGGGCAGGGCCCCGTCCCCCCCTCACACCCCTCGGGACAGG ACCCCGTCCCCCCCTCACACCCCTCGGGACAGGACCCCGTCCCCCCCTCA CACCCCTCGGGACAGGGCCCCGTCCCCCCCACACCCCTCAGGGCAGGGCC CCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
C2CD4C_chr19_400445_414147	404572	G G	GGAGGGGG others(224): Show GGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGATGGGGTC CTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCTTGAGGGGTGTGG GGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTG CCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAG GGGGGATGGGGTCCTGCCCTGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0123 a0001c0002t0059g0123	1	322	0.0031	231	c.25 others(242): Show c.2523_*2524insTCCACACCCCTCAGGGCAGGACCCCATCCCCCCT CCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCA GGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCC ACACCCCTCAAGGCAGGACCCCGTACCCCCTCAGACCCCTCAGGGCAGGA CCCCATCCCCCCCCCACACCCCTCAGGGCAGGACCCCATCCCCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		872		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(224): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGAGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0318 a0008c0022t0001g0318	1	326	0.0031	231	c.145 others(248): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGAGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCC AGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CA10_chr17_51625320_52163714	51831728	A A	AGCAGCAG others(224): Show AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCCGCCGCCGCCGCCGCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	156	0.0064	231	c.280 others(250): Show c.280-83911_280-83910insGGCGGCGGCGGCGGCGGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGC	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CACNA1I_chr22_39565753_39694735	39596314	T T	TGGGGGAG others(224): Show TGGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGG GGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGGC AGGGCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGG CGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGA GAGAGATGGGGGGGCAGGGCGGAGGGAGATGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0008 a0006c0012t0008	a0006c0012t0008g0143 a0006c0012t0008g0143	1	236	0.0042	231	c.237 others(248): Show c.237-1832_237-1831insAGCAGGGCGGAGAGAGATGGGGGAGCAG GGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGG AGGGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGGCGGAGAG AGATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGAT GGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGG GGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601998	T T	TTCCTTCC others(224): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCT CTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG03516.hp2 HG02486.hp2 HG02630.hp2 HG03516.hp2	a0003 a0005 a0003 a0005	a0003c0005 a0005c0007 a0003c0005 a0005c0007	a0003c0005t0008 a0005c0007t0006 a0005c0007t0060 a0003c0005t0008 a0005c0007t0006 a0005c0007t0060	a0003c0005t0008g0171 a0005c0007t0006g0100 a0005c0007t0060g0095 a0003c0005t0008g0171 a0005c0007t0006g0100 a0005c0007t0060g0095	3	236	0.0127	231	c.482 others(248): Show c.482+1348_482+1349insTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC TCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601998	T T	TTCCTTCC others(224): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCTTCCTTCCTTCCCGTCCCTCCCTCCTCCCTCCTTCCTTCC TTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0020 a0011c0029t0020	a0011c0029t0020g0083 a0011c0029t0020g0083	1	236	0.0042	231	c.482 others(248): Show c.482+1348_482+1349insTTCCTTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCGTCCCTCCC TCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCT CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC TCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601998	T T	TTCCTTCC others(224): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCC TTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0020 a0011c0029t0020	a0011c0029t0020g0082 a0011c0029t0020g0082	1	236	0.0042	231	c.482 others(248): Show c.482+1348_482+1349insTTCCTTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCT CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC TCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAMK1D_chr10_12344547_12840545	12775616	T T	TTGATCAG others(224): Show TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	214	0.0047	231	c.565 others(248): Show c.565+6047_565+6048insCTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44588840	C C	CCGCCCGG others(224): Show CCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGTCAGCCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGATCAGCCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	198	0.0051	231	c.377 others(252): Show c.377-115443_377-115442insCGCCCGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGTGGGGATCAGCCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGAGGGG others(224): Show GGGAGGGGAGTGGGGAGATGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGG GAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGG GGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGG AGGGGAGTGGGGACGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGG GAGGGGGGCAGGGAAGGGGAATGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0308 a0001c0011t0006g0308	1	340	0.0029	231	c.104 others(250): Show c.1045+2187_1045+2188insTCCTCCTCCCATTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCGTCCCCACTCCCCTCCCCCACTCCCGTCCCCAC TCCCCTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCC CACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTC CCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCATCTCCCCACTCC CCTCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACATAC others(224): Show ACACATACACACTCACATACAGACACAACCACACCACACTCACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACATACACACT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0315 a0013c0023t0001g0315	1	460	0.0022	231	c.193 others(248): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACATACACACTCACAT ACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(224): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGGAGGGGGGA GGGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGA AGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0026 a0001c0001t0008g0026	1	364	0.0028	231	c.234 others(248): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCCTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(224): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGGGGA AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAG GGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGA GAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0316 a0002c0003t0001g0316	1	364	0.0028	231	c.234 others(248): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(224): Show AAGAAGAAGGGGAAGGGGAAGGGGAAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGG AGGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAA GAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	364	0.0028	231	c.234 others(248): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTTCCCCTTCCCCTTCCCCTTCT TCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC30_chr1_42458286_42662190	42535699	T T	TATATATA others(224): Show TATATATATATTATATATATATAATATATATATTATATATATATAATATA TATATTATATATATATAATATATATATTATATATATATTATATATATATT ATATATATATAATATATATATTATATATATATAATATATATATAATATAT ATATAATATATATATAATATATATATAATATATATATTATATATATATTA TATATATATAAAATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	324	0.0031	231	c.457 others(246): Show c.457-757_457-756insTAATATATATATTATATATATATAATATAT ATATTATATATATATAATATATATATTATATATATATTATATATATATTA TATATATATAATATATATATTATATATATATAATATATATATAATATATA TATAATATATATATAATATATATATAATATATATATTATATATATATTAT ATATATATAAAATATATATTATATATATATAATATATATATTATATATAT A	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(224): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	231	c.-22 others(242): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(224): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	231	c.-22 others(242): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(224): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	231	c.-22 others(242): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(224): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	231	c.-22 others(242): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(224): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	231	c.-22 others(242): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(224): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGCAGA TGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGG GAGGGAGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGG GGGAGGGGCAGGGGAGGGGAAGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0103 a0002c0002t0103	a0002c0002t0103g0146 a0002c0002t0103g0146	1	256	0.0039	231	c.727 others(248): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCC TCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTC CCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCC CCCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTC CCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTC CCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(224): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	388	0.0026	231	c.487 others(248): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CFAP46_chr10_132803392_132947570	132821339	C C	CTGTGTGC others(224): Show CTGTGTGCGCTGTGTGCTGTGTGCTGATGTGTGCTGATGTGTGCTGTGTG CTGACGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGTGTGC TGTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGAGTGC TGATGTGTGCTGTGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGTGCTGA TGTGTGCTGTGTGTGTGCTGATGTGTGCTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0023 a0023	a0023c0062 a0023c0062	a0023c0062t0001 a0023c0062t0001	a0023c0062t0001g0210 a0023c0062t0001g0210	1	246	0.0041	231	c.711 others(250): Show c.7118-6426_7118-6425insCACAGCACACATCAGCACACACACAG CACACATCAGCACACACAGCACACATCAGCACACACAGCACACACAGCAC ACATCAGCACTCACACAGCACACAGCACACACACAGCACACATCAGCGCA CACACAGCACACAGCACACACACAGCACACATCAGCGCACACACAGCACA CGTCAGCACACAGCACACATCAGCACACATCAGCACACAGCACACAGCGC ACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCTGAGG others(224): Show CCCTGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0242 a0010c0011t0001g0242	1	246	0.0041	231	c.212 others(248): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC AGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CMIP_chr16_81439808_81716762	81669329	A A	ACCTCCTT others(224): Show ACCTCCTTCCACACCCACCTCACCTTCCACACCCACCTCTCACACTCACC TCCTTCCACACCCACTTCATACCTCCTTCCACACCCCTCTCACCTCCTTC CACACCCACCTCTCACCTTCCACACCCATCTCTCACACTCACCTTCCACA TCCACCTCACATCTCCACACCCACCTCTCACACTCACCTCCTTCCACATC CACCTCACACCTCCACACCCACCTCTCACACT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0081 a0001c0001t0008g0081	1	268	0.0037	231	c.826 others(246): Show c.826-813_826-812insCCTCCTTCCACACCCACCTCACCTTCCACA CCCACCTCTCACACTCACCTCCTTCCACACCCACTTCATACCTCCTTCCA CACCCCTCTCACCTCCTTCCACACCCACCTCTCACCTTCCACACCCATCT CTCACACTCACCTTCCACATCCACCTCACATCTCCACACCCACCTCTCAC ACTCACCTCCTTCCACATCCACCTCACACCTCCACACCCACCTCTCACAC T	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCTTCCT others(224): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCCTCCCTCT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCT GTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0110	1	223	0.0045	231	c.-42 others(242): Show c.-4275_-4274insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCT CTGTCCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar
CNTNAP2_chr7_146111801_148425998	146712385	C C	CTATATAG others(224): Show CTATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATG TATACTATATAGTATACATATCTTATGTATACTATATAGTATACATATCT TATGTATACTATATAGTATACATATCTTATGTATACTATATAGTATACAT ATCTTATGTATACTATATAGTATACATATCTTATGTATACTATATAGTAT ACATATCTTATGTATACTATATAGTATACATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	40	0.0250	231	c.98- others(248): Show c.98-61880_98-61879insGTATACATATCTTATGTATACTATATAG TATACATATCTTATGTATACTATATAGTATACATATCTTATGTATACTAT ATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATGTATA CTATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATG TATACTATATAGTATACATATCTTATGTATACTATATAGTATACATATAT ATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL20A1_chr20_63288186_63339806	63294164	G G	GGGGAGTG others(224): Show GGGGAGTGTGGGGGGAGGGGGTGTGCGGGGGAGGGGGAGTGCGGGGGAGG GGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGG GAGTGCGGGGGGAGGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAG GGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGG GGAGTGCGGGGGGAGCGGGGCTGCGGAGGAGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0025 a0025	a0025c0028 a0025c0028	a0025c0028t0021 a0025c0028t0021	a0025c0028t0021g0024 a0025c0028t0021g0024	1	290	0.0035	231	c.-11 others(246): Show c.-11+896_-11+897insTGGGGGGAGGGGGTGTGCGGGGGAGGGGGA GTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCGGGGGGAGGGGGGAGTGCGGGGGGAGGGGGAG TGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGT GTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGGAGCGGGAGT G	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(224): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCG GGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp1 others(62): Show HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02148.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18940.hp2 NA18945.hp2 NA18947.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18978.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19077.hp2 NA19088.hp2 NA20129.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0019 a0029 a0032	a0001c0001 a0001c0005 a0001c0018 others(6): Show a0001c0001 a0001c0005 a0001c0018 a0001c0020 a0003c0003 a0004c0006 a0019c0036 a0029c0029 a0032c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0031 a0001c0001t0034 a0001c0001t0042 a0001c0005t0002 a0001c0018t0001 a0001c0020t0041 a0003c0003t0006 a0003c0003t0009 a0004c0006t0004 a0019c0036t0001 a0029c0029t0024 a0032c0040t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0008g0002 a0001c0001t0008g0063 a0001c0001t0009g0068 a0001c0001t0012g0060 a0001c0001t0016g0062 a0001c0001t0021g0070 a0001c0001t0022g0011 a0001c0001t0024g0001 a0001c0001t0031g0048 a0001c0001t0034g0047 a0001c0001t0042g0055 a0001c0005t0002g0046 a0001c0005t0002g0061 a0001c0018t0001g0074 a0001c0020t0041g0069 a0003c0003t0006g0071 a0003c0003t0006g0072 a0003c0003t0006g0073 a0003c0003t0009g0066 a0004c0006t0004g0076 a0019c0036t0001g0052 a0029c0029t0024g0001 a0032c0040t0001g0050	65	290	0.2241	231	c.-11 others(246): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGG G	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(224): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGTG GGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0082 a0001c0001t0020g0082	1	290	0.0035	231	c.-11 others(246): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGTGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGG G	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(224): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCG GGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18940.hp1 NA19057.hp2 NA18747.hp2 NA18940.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0005g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0005g0092	3	290	0.0103	231	c.-11 others(246): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGG G	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(224): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGAAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCG GGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	290	0.0035	231	c.-11 others(246): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGG G	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(224): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCG GGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	290	0.0035	231	c.-11 others(246): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGG G	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(224): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCG GGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG02451.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03195.hp2	a0001 a0031 a0001 a0031	a0001c0001 a0031c0038 a0001c0001 a0031c0038	a0001c0001t0011 a0031c0038t0011 a0001c0001t0011 a0031c0038t0011	a0001c0001t0011g0005 a0001c0001t0011g0139 a0031c0038t0011g0140 a0001c0001t0011g0005 a0001c0001t0011g0139 a0031c0038t0011g0140	5	290	0.0172	231	c.-11 others(246): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGG G	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(224): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCG GGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01884.hp2 others(17): Show HG01167.hp1 HG01243.hp1 HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02559.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 NA18906.hp2 NA18966.hp2 NA19030.hp1 NA20300.hp2	a0001 a0005 a0008 others(3): Show a0001 a0005 a0008 a0014 a0018 a0026	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0011 a0001c0031 a0005c0007 a0008c0012 a0014c0021 a0018c0041 a0026c0023	a0001c0001t0027 a0001c0004t0003 a0001c0005t0002 others(9): Show a0001c0001t0027 a0001c0004t0003 a0001c0005t0002 a0001c0009t0013 a0001c0011t0001 a0001c0011t0015 a0001c0031t0014 a0005c0007t0002 a0008c0012t0003 a0014c0021t0003 a0018c0041t0004 a0026c0023t0046	a0001c0001t0027g0208 a0001c0004t0003g0126 a0001c0004t0003g0200 others(17): Show a0001c0001t0027g0208 a0001c0004t0003g0126 a0001c0004t0003g0200 a0001c0004t0003g0202 a0001c0004t0003g0206 a0001c0004t0003g0211 a0001c0004t0003g0214 a0001c0004t0003g0215 a0001c0004t0003g0218 a0001c0005t0002g0207 a0001c0009t0013g0216 a0001c0011t0001g0212 a0001c0011t0015g0201 a0001c0031t0014g0205 a0005c0007t0002g0204 a0008c0012t0003g0203 a0008c0012t0003g0209 a0014c0021t0003g0217 a0018c0041t0004g0213 a0026c0023t0046g0210	20	290	0.0690	231	c.-11 others(246): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGG G	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(224): Show CGGGGGGAGGGGGAGTGTGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCG GGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	290	0.0035	231	c.-11 others(246): Show c.-11+902_-11+903insGAGGGGGAGTGTGGGGGAGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGG G	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294179	G G	GAGGGGGA others(224): Show GAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGA GGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAG GGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAG GGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGC GGGGCTGCCGAGGAGCGGGAGTGTGGGGGAGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	290	0.0035	231	c.-11 others(246): Show c.-11+904_-11+905insAGGGGGAGTGCGGGGGAGGGGGAGTGCGGG GGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGG GAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGG GAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAA GGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGGAG T	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35			chr20	TogoVar
COL4A1_chr13_110143963_110312157	110253096	C C	CATATACA others(224): Show CATATACAGATAACTATAAGTACGTATGTATTACATATACAGATAACTAT AAGTACGTATGTATTACATATACAGATAACTATAAGTACGTATGTATTAC ATATACAGATAACTATAAGTACGTATGTATTACATATACAGATAACTATA AGTACGTATGTATTACATATACATATAACTATAAGTACGTATGTATTACA TATACATGTAACTATATGTACGTATGTATTAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0099 a0001c0033t0001g0099	1	344	0.0029	231	c.85- others(248): Show c.85-10363_85-10362insATAATACATACGTACATATAGTTACATG TATATGTAATACATACGTACTTATAGTTATATGTATATGTAATACATACG TACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTTATCTGT ATATGTAATACATACGTACTTATAGTTATCTGTATATGTAATACATACGT ACTTATAGTTATCTGTATATGTAATACATACGTACTTATAGTTATCTGTA TAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAAGAAGG others(224): Show CAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAAGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0093 a0002c0093	a0002c0093t0003 a0002c0093t0003	a0002c0093t0003g0217 a0002c0093t0003g0217	1	344	0.0029	231	c.85- others(248): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCTTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255704	G G	GGGCAGGC others(224): Show GGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAAGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGG CAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAAGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0003 a0001c0056t0003	a0001c0056t0003g0126 a0001c0056t0003g0126	1	344	0.0029	231	c.85- others(248): Show c.85-12971_85-12970insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCTTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CTTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCTTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTG CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCT GCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CSGALNACT1_chr8_19399161_19762277	19407781	A A	ACATGTGG others(224): Show ACATGTGGACATTTGTGTATATGAATTGTGTGCGCATGTGGACATTTGTG TATATGAATTGTGTGCACATGTGGACATTTGTGTATATGAATTGTGTGCG CATGTGGACATTTGTGTATATGAATTGTGTGCGCATGTGGACATTTGTGT ATATGAATTGTGTGCGCATGTGGGCATTTGTGTATATGAATTGTGTGCAC ATGTGGACATTTGTGTATATGAATTGTGTGCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0234 a0001c0002t0002g0234	1	238	0.0042	231	c.130 others(248): Show c.1309+831_1309+832insCGCACACAATTCATATACACAAATGTCC ACATGTGCACACAATTCATATACACAAATGCCCACATGCGCACACAATTC ATATACACAAATGTCCACATGCGCACACAATTCATATACACAAATGTCCA CATGCGCACACAATTCATATACACAAATGTCCACATGTGCACACAATTCA TATACACAAATGTCCACATGCGCACACAATTCATATACACAAATGTCCAC ATG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	8/8			chr8	TogoVar
CSTPP1_chr11_46931761_47167247	47036037	A A	AAAAGTGG others(224): Show AAAAGTGGGATAGATATAAAGGTCACTTATCTAAGAATTTTTTTTGTCCA TGTTTTACTTTTGGAACTATGTTAATATTTCATTTACATGAGTAAGTATA TATATATTATATATGTTATTTTATATATATATTATATATATGATATATGA TATATTATAATATATTATATATGATATTATATTATATTATATATAATATC ATATATTATATTATATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02922.hp2 HG01243.hp1 HG01884.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0187	3	224	0.0134	231	c.150 others(250): Show c.150-16351_150-16350insAAAGTGGGATAGATATAAAGGTCACT TATCTAAGAATTTTTTTTGTCCATGTTTTACTTTTGGAACTATGTTAATA TTTCATTTACATGAGTAAGTATATATATATTATATATGTTATTTTATATA TATATTATATATATGATATATGATATATTATAATATATTATATATGATAT TATATTATATTATATATAATATCATATATTATATTATATATAATATATAT TATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8			chr11	TogoVar
CTDP1_chr18_79674803_79759503	79684954	C C	CTCCCAGT others(224): Show CTCCCAGTTTCTCCGTGGTGCTCCTTACAGGGTGTGAGGTCCTGGTGAGG ATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCCGTGGTGCTC CTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTC TCTAGTCCCAGTTTCTCCGCGGTGCTCCTTACGGGGTGTGAGGTCCTGGT GAGGATCAGTGCAGGGACCTCGTGGTCTCTAG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18967.hp1 NA18962.hp2 NA18967.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0023 a0001c0003t0001g0024	2	378	0.0053	231	c.314 others(248): Show c.314+4697_314+4698insAGTTTCTCCGTGGTGCTCCTTACAGGGT GTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCG GTTTCTCCGTGGTGCTCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGT GCAGGGACCTCGTGGTCTCTAGTCCCAGTTTCTCCGCGGTGCTCCTTACG GGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTAGT CCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79684954	C C	CTCCCAGT others(224): Show CTCCCAGTTTCTCCGTGGTGCTCCTTACGGGGTGTGAGGTCCTGGTGAGG ATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCCGTGGTGCTC CTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTC TCTAGTCCCAGTTTCTCCGCGGTGCTCCTTACGGGGTGTGAGGTCCTGGT GAGGATCAGTGCAGGGACCTCGTGGTCTCTAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG01074.hp1 others(64): Show HG00673.hp1 HG00735.hp2 HG01074.hp1 HG01123.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02132.hp1 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18940.hp2 NA18943.hp1 NA18955.hp2 NA18963.hp2 NA18965.hp2 NA18984.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19066.hp2 NA19067.hp1 NA19077.hp1 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1	a0001 a0008 a0009 others(1): Show a0001 a0008 a0009 a0013	a0001c0003 a0001c0008 a0001c0016 others(5): Show a0001c0003 a0001c0008 a0001c0016 a0001c0028 a0001c0029 a0008c0025 a0009c0026 a0013c0027	a0001c0003t0001 a0001c0003t0010 a0001c0003t0014 others(7): Show a0001c0003t0001 a0001c0003t0010 a0001c0003t0014 a0001c0008t0001 a0001c0016t0001 a0001c0028t0001 a0001c0029t0001 a0008c0025t0001 a0009c0026t0001 a0013c0027t0001	a0001c0003t0001g0003 a0001c0003t0001g0025 a0001c0003t0001g0026 others(63): Show a0001c0003t0001g0003 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0340 a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0003t0001g0374 a0001c0003t0010g0044 a0001c0003t0014g0059 a0001c0008t0001g0010 a0001c0008t0001g0198 a0001c0008t0001g0199 a0001c0008t0001g0200 a0001c0008t0001g0201 a0001c0008t0001g0203 a0001c0008t0001g0204 a0001c0008t0001g0205 a0001c0016t0001g0057 a0001c0016t0001g0058 a0001c0028t0001g0202 a0001c0029t0001g0029 a0008c0025t0001g0065 a0009c0026t0001g0060 a0013c0027t0001g0037	67	378	0.1773	231	c.314 others(248): Show c.314+4697_314+4698insAGTTTCTCCGTGGTGCTCCTTACGGGGT GTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCG GTTTCTCCGTGGTGCTCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGT GCAGGGACCTCGTGGTCTCTAGTCCCAGTTTCTCCGCGGTGCTCCTTACG GGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTAGT CCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGATGGA others(224): Show GGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGG AGGGGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGGGA TGGAGGGGCATGGAGGGATGGAGGGATGGAGGGATAGACAGATGGAGGGG ATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGGAG GGATGGAGGGGATGTGGGGATGGAGGGATGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG04228.hp2 HG00741.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	2	386	0.0052	231	c.827 others(246): Show c.827+380_827+381insTCCATCCCTCCATCCCCACATCCCCTCCAT CCCTCCATCCCTCCATCCCCACATCCCTCTGTGACTCTCCATGACCCTCC ATCCCCTCCATCTGTCTATCCCTCCATCCCTCCATCCCTCCATGCCCCTC CATCCCTTCATCCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCC CTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATC C	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15931731	A A	AATGAGTG others(224): Show AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0294 a0001c0002t0003g0294	1	386	0.0026	231	c.199 others(248): Show c.199-2131_199-2130insCACTCACTCATTCCTCTCCCCGCTCACT CATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTC CCCGCTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCGCTCACT CATTCCTCTCCTCGCTCACTCATTCCTCTCCCCACTCACTCATTCCTCTC CCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACT CAT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78269067	A A	ATTATATC others(224): Show ATTATATCTATTATATATATTATATAATATATAATATATAATATATAATA TATTATTATATATATTATAAATTATATAATATATATAATATATATATTAT ATATAATATATTATATATTATATAATATATAATATATATAATATATAATA TATTATATATAATATATTATATATTATATAATATATATATAATATATAAT ATATAATATATATATTATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0177 a0001c0001t0010g0177	1	240	0.0042	231	c.36 others(242): Show c.3665_*3666insATTATATATTATATATAATATATATATTATATAT TATATATTATATATATATTATATAATATATAATATATTATATATAATATA TTATATATTATATATATTATATATTATATAATATATAATATATTATATAT AATATATATATTATATATATTATATAATTTATAATATATATAATAATATA TTATATATTATATATTATATATTATATAATATATATAATAGATATAA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2400		chrX	TogoVar

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