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
C20orf96_chr20_265863_295750	278998	C C	CGGAGGGA others(169): Show CGGAGGGAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGAAGGGCGG GACAGAGGGAGGGAGGGAGGGAGGGAGGGCGGGACAGAGGGAGGGAGGGA GGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGACG GAGGGAGGAAGGGCGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	410	0.0024	176	c.465 others(191): Show c.465+173_465+174insCTCCCTCCCTCCCGCCCTTCCTCCCTCCGT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCC CTCCCTCCCTCTGTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCTGTCCCG CCCTTCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2orf16_chr2_27532386_27587722	27539933	C C	CCCTCCCG others(169): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03139.hp2 HG03516.hp1 HG01109.hp2 HG03139.hp2 HG03516.hp1	a0002 a0019 a0002 a0019	a0002c0037 a0019c0020 a0002c0037 a0019c0020	a0002c0037t0001 a0019c0020t0001 a0002c0037t0001 a0019c0020t0001	a0002c0037t0001g0027 a0019c0020t0001g0025 a0019c0020t0001g0026 a0002c0037t0001g0027 a0019c0020t0001g0025 a0019c0020t0001g0026	3	326	0.0092	176	c.144 others(193): Show c.144+2386_144+2387insGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C5AR1_chr19_47304861_47327066	47305966	A A	ATTTTTTT others(169): Show ATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 NA19009.hp2 HG01516.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0008 a0001c0001t0001g0010	2	376	0.0053	176	c.-39 others(187): Show c.-3930_-3929insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT	C5AR1	ENSG00000197405.8	transcript	ENST00000355085.4	protein_coding		3894		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(169): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTC TTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCT CTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0044 a0044	a0044c0112 a0044c0112	a0044c0112t0012 a0044c0112t0012	a0044c0112t0012g0206 a0044c0112t0012g0206	1	218	0.0046	176	c.573 others(195): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(169): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTT TCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCT CTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0133 a0006c0011t0002g0133	1	218	0.0046	176	c.573 others(195): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(169): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0125 a0008c0008t0002g0125	1	218	0.0046	176	c.573 others(195): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNB4_chr2_151827771_152104044	151875697	C C	CGGGGCGG others(169): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGCTGACCCCCCACCTCCCTCCCGGACGGGGCGTCTCGCCTGGCGGGGGG CTGACCCCCCCATCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp2 HG02683.hp1 others(2): Show HG00735.hp2 HG01257.hp2 HG02683.hp1 HG03669.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0008 a0001c0003t0007 a0001c0003t0008	a0001c0003t0007g0098 a0001c0003t0008g0099 a0001c0003t0008g0100 others(2): Show a0001c0003t0007g0098 a0001c0003t0008g0099 a0001c0003t0008g0100 a0001c0003t0008g0101 a0001c0003t0008g0171	5	230	0.0217	176	c.521 others(191): Show c.521+728_521+729insCGTCCGGGAGGGAGATGGGGGGGTCAGCCC CCCGCCAGGCGAGACGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CADPS2_chr7_122313411_122891460	122705888	A A	ATATAATA others(169): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATTATATAATATAATGTATAAT ATATTATATAATATAATGTATAATATATTATATAATATAATGTATAATAT ATTATATAATATAATATATAATATATT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0036 a0001c0002t0005g0036	1	126	0.0079	176	c.453 others(195): Show c.453+31066_453+31067insAATATATTATATATTATATTATATAA TATATTATACATTATATTATATAATATATTATACATTATATTATATAATA TATTATACATTATATTATATAATATATTATATATTATATTATATATTATA TATTATATATTATATTATATATTATATATTATATTATATATTATATTATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACATACA others(169): Show CACATACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATATACACACATATATGTATGTG TATATATACACACACATATACACACAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03017.hp2 HG03239.hp1 others(2): Show HG01069.hp2 HG03017.hp2 HG03239.hp1 NA19060.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0002g0083 a0001c0001t0003g0002 others(1): Show a0001c0001t0001g0060 a0001c0001t0002g0083 a0001c0001t0003g0002 a0001c0001t0003g0157	5	262	0.0191	176	c.218 others(191): Show c.218+721_218+722insACATACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAT ACACACATATATGTATGTGTATATATACACACACATATACACACAT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATGTGTGT others(169): Show ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGT ATGTGTGTACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGT ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTGTG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0312 a0001c0001t0027g0312	1	366	0.0027	176	c.645 others(193): Show c.645+1167_645+1168insGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(169): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACGCGTGTGTATGTGTGTACACACACGCGT GTGTATGTGTGTACACACACACGCGTA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	366	0.0027	176	c.645 others(193): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGTATGTGT GTACACACACGCGTGTGTATGTGTGTACACACACACGCGTATATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN11_chr6_44153820_44189401	44181574	C C	CCACACTC others(169): Show CCACACTCACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACTCACACACACACATACACACT CACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0306 a0008c0008t0002g0306	1	460	0.0022	176	c.193 others(193): Show c.1938+259_1938+260insTCACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACTCACATACAGACACAACCACACCACAC TCACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182053	A A	ACTCACAT others(169): Show ACTCACATACAGACACAACCACACCACACTCACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACACACATACACACT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0425 a0001c0001t0001g0425	1	460	0.0022	176	c.193 others(193): Show c.1938+733_1938+734insCTCACATACAGACACAACCACACCACAC TCACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACATACAC ACTCACATACAGACACAACCACACCACACTCACACACACATACACACT	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22			chr6	TogoVar
CAPN5_chr11_77061971_77131155	77098732	C C	CCCCCCCA others(169): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA CCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03453.hp2 HG06807.hp1 HG02735.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0045 a0001c0001t0005 a0001c0001t0007 a0001c0001t0045	a0001c0001t0005g0196 a0001c0001t0007g0246 a0001c0001t0045g0351 a0001c0001t0005g0196 a0001c0001t0007g0246 a0001c0001t0045g0351	3	382	0.0079	176	c.297 others(193): Show c.297+4925_297+4926insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCC CCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CARMIL1_chr6_25274374_25625530	25459229	T T	TCTTTCTT others(169): Show TCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0113 a0004c0011t0003g0113	1	186	0.0054	176	c.615 others(193): Show c.615-6625_615-6624insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CBFA2T3_chr16_88869858_88982207	88975123	C C	CCTCTGCT others(169): Show CCTCTGCTCCTGACCTCCAGCCATGTCAGAGGTCCACCCTGACCCTCTCT GCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCTG ACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGACCTGCA GCCATATCAAAGGGCCACCCTGACCCT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	284	0.0035	176	c.151 others(193): Show c.151+1533_151+1534insAGGGTCAGGGTGGCCCTTTGATATGGCT GCAGGTCAGGAGCAGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTC AGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCA GAGAGGGTCAGGGTGGACCTCTGACATGGCTGGAGGTCAGGAGCAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(169): Show TCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCAC CCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGA TCCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTG CTCCTGACCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	284	0.0035	176	c.151 others(193): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTCAGGAGC AGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGAT CAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGG TGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975168	T T	TCTCTGCT others(169): Show TCTCTGCTCCTGACCTCCAGCCATGTCAGAGGTCCACCCTGACCCTCTCT GCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTGCTCCTC ACCTGCAGCCATATCAAAGGGCCACCCTGACCCTCTCTGCTCCACATCTT TAGCCATGTCAGAGGTCCACCCTGATC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	284	0.0035	176	c.151 others(193): Show c.151+1488_151+1489insGATCAGGGTGGACCTCTGACATGGCTAA AGATGTGGAGCAGAGAGGGTCAGGGTGGCCCTTTGATATGGCTGCAGGTG AGGAGCAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCA GAGAGGGTCAGGGTGGACCTCTGACATGGCTGGAGGTCAGGAGCAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975228	C C	CAGCCATG others(169): Show CAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCC ATGTCAGAGGTCCACCCTGATCCTCTGCTCCTGACCTGCAGCCATGTCAG AGGTCCACCCTGGCCCTCTGCTCCTCACCTGCAGCCATATCAAAGGGCCA CCCTGACCCTCTCTGCTCCACATCTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0116 a0001c0001t0033g0116	1	284	0.0035	176	c.151 others(193): Show c.151+1428_151+1429insAAAGATGTGGAGCAGAGAGGGTCAGGGT GGCCCTTTGATATGGCTGCAGGTGAGGAGCAGAGGGCCAGGGTGGACCTC TGACATGGCTGCAGGTCAGGAGCAGAGGATCAGGGTGGACCTCTGACATG GCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC127_chr5_191868_223153	211826	A A	ATGCTCGA others(169): Show ATGCTCGACATCAAATACTGCAGCCACGATGAGACAGCACCACACACCCA TCACGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACAT CGCACACTGCAGCCATGACGAGACAGCACCACACACCCATCATGATGGGG CAGACTGGACAGCAGTGTGAGCACACT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0107 a0001c0001t0150g0107	1	406	0.0025	176	c.121 others(193): Show c.121+4902_121+4903insAGTGTGCTCACACTGCTGTCCAGTCTGC CCCATCATGATGGGTGTGTGGTGCTGTCTCGTCATGGCTGCAGTGTGCGA TGTCGAGCATCAGCGTGCTCACACTGCTGTCCCGTCTGCCCCATCGTGAT GGGTGTGTGGTGCTGTCTCATCGTGGCTGCAGTATTTGATGTCGAGCA	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC127_chr5_191868_223153	211826	A A	ATGCTCGA others(169): Show ATGCTCGACATCGCACACTGCAGCCATGACGAGACAGCACCACACACCCA TCATGATGGGGCAGACTGGACAGCAGTGTGAGCACACTGATGCTCGACAT CGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGG CAGACGGGACAGCAGTGTGAGCACGCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0174 a0001c0001t0175 a0001c0001t0174 a0001c0001t0175	a0001c0001t0174g0115 a0001c0001t0175g0116 a0001c0001t0174g0115 a0001c0001t0175g0116	2	406	0.0049	176	c.121 others(193): Show c.121+4902_121+4903insAGCGTGCTCACACTGCTGTCCCGTCTGC CCCATCCTGATGGGTGTGTGGTGCTGTCTCGTCGTGGCTGCAGTGTGCGA TGTCGAGCATCAGTGTGCTCACACTGCTGTCCAGTCTGCCCCATCATGAT GGGTGTGTGGTGCTGTCTCGTCATGGCTGCAGTGTGCGATGTCGAGCA	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(169): Show CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCTCCTCCCACCA CCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCT CCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0015 a0001c0005t0002g0015	1	410	0.0024	176	c.-22 others(187): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882521	G G	GCGGGAGA others(169): Show GCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	288	0.0035	176	c.303 others(195): Show c.303+23600_303+23601insGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55297340	T T	TTATATAT others(169): Show TTATATATTATATATAATATATATTATATATATTATATATAAATATATAT AATATATATTATATATAATATATATAATATATATTATATATAATATATAT TATATATAAATATATATAATATATATTATATATAATATATATTATATATA AATATATATAATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0199 a0001c0001t0015g0199	1	316	0.0032	176	c.482 others(193): Show c.4826-818_4826-817insTTATATATAATATATATTATATATATTT ATATATAATATATATTATATATAATATATATTATATATATTTATATATAA TATATATTATATATAATATATATTATATATATTATATATAATATATATTA TATATATTTATATATAATATATATAATATATATTATATATAATATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293324	A A	ACCTGCCA others(169): Show ACCTGCCACGGCCGACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTC CCATCCTCACCTGCCAAAGCTCACCTTCCTGTCCCCTCACCTGCCACAGC CCACCTTCCCGTCCTCACCTGCCACGGTCCACCTTCCTGTCCCCTCACCT GCCACAGCCCACCTTCCTGTCCCCTCG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02004.hp2 HG01433.hp1 HG02004.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0137 a0001c0006t0001g0189 a0001c0006t0001g0137 a0001c0006t0001g0189	2	284	0.0070	176	c.411 others(193): Show c.4112+848_4112+849insCGAGGGGACAGGAAGGTGGGCTGTGGCA GGTGAGGGGACAGGAAGGTGGACCGTGGCAGGTGAGGACGGGAAGGTGGG CTGTGGCAGGTGAGGGGACAGGAAGGTGAGCTTTGGCAGGTGAGGATGGG AAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTCGGCCGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293558	G G	GCCTGCCA others(169): Show GCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTC CTGTCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGC CCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGC CTGCCACAGCTCACCTTCCCATCCTCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0151 a0003c0003t0002g0151	1	284	0.0035	176	c.411 others(193): Show c.4112+614_4112+615insTGAGGATGGGAAGGTGAGCTGTGGCAGG CGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGG CTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGACAGG AAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD36_chr7_80633642_80684274	80682965	A A	ATATATAT others(169): Show ATATATATATACGTATATATACGTATATGTGTATATATACGTATATGTAT ATATGTGTATATATACGTATATGTATATATGTGTATATATACGTATATGT GTATATATGTGTATATATACGTATATGTGTATATATGTGTATATATACGT ATATGTGTATATATGTGTATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	392	0.0026	176	c.65 others(187): Show c.6582_*6583insTATATATATACGTATATATACGTATATGTGTATA TATACGTATATGTATATATGTGTATATATACGTATATGTATATATGTGTA TATATACGTATATGTGTATATATGTGTATATATACGTATATGTGTATATA TGTGTATATATACGTATATGTGTATATATGTGTATATATACG	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		3692		chr7	TogoVar
CDC34_chr19_526760_547087	534689	T T	TCCCTGTC others(169): Show TCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTG TCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGA CCTCGCCCATGATCCAAGACCCCCGAGTGCCCGCCCTGTCCAGACCTCGC CCACGATCCAAGACCCCCGAGTGCCCG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	328	0.0031	176	c.178 others(193): Show c.178-1017_178-1016insGCCCTGTCCAGACCTCGCCCACGATCCA AGACCCCCGAGTGCCCGCCCTGTCCAGACCTCGCCCACGATCCAAGACCC CCGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCGAGT GCCCTCCCTGTCCAGACCTCGCCCATGATCCAAGACCCCCGAGTGCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC34_chr19_526760_547087	534689	T T	TCCCTGTC others(169): Show TCCCTGTCCAGACCTCGCCCATGATCCAAGACCCCCGAGTGCCCTCCCTG TCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAGA CCTCGCCCATGATCCAAGACCCCCGAGTGCCCGCCCTGTCCAGACCTCGC CCACGATCCAAGACCCCCGAGTGCCCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01099.hp2 HG01123.hp2 others(21): Show HG00408.hp1 HG01099.hp2 HG01123.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG02148.hp2 HG02165.hp2 HG02559.hp1 HG02602.hp1 HG02723.hp1 HG03209.hp1 HG03688.hp2 NA18522.hp2 NA18956.hp2 NA18960.hp1 NA18964.hp1 NA19043.hp1 NA19070.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0001 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0027 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0008g0084 a0001c0001t0009g0086	24	328	0.0732	176	c.178 others(193): Show c.178-1128_178-1127insTGATCCAAGACCCCCGAGTGCCCTCCCT GTCCAGACCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTCCAG ACCTCGCCCATGATCCAAGACCCCCGAGTGCCCGCCCTGTCCAGACCTCG CCCACGATCCAAGACCCCCGAGTGCCCGCCCTGTCCAGACCTCGCCCA	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH4_chr20_61247261_61945617	61273526	T T	TTTTGGGG others(169): Show TTTTGGGGAGTACCGTGTGCAGTTTGGGGGAGTATTGGGGGAGTACCATG TGCAGTTTGGGGGAGGACCATGTGCAGTTTAGGGGAGTACCGTGTGCAGT TTGGGGGAGTATTGGGGAAGTACCATGTGCAGTTTGGGGGAATACCATGT GCAACTTGGGGGAGTACCATGCACAGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00639.hp2 others(61): Show HG00408.hp2 HG00423.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0006 others(16): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0022 a0001c0023 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0026 a0003c0017 a0003c0018 a0005c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0017 a0001c0003t0037 a0001c0003t0043 a0001c0003t0052 a0001c0003t0053 a0001c0003t0054 a0001c0006t0006 a0001c0006t0029 a0001c0006t0049 a0001c0007t0010 a0001c0007t0046 a0001c0010t0009 a0001c0011t0008 a0001c0012t0001 a0001c0013t0006 a0001c0022t0042 a0001c0023t0044 a0002c0002t0004 a0002c0002t0012 a0002c0002t0014 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0039 a0002c0002t0041 a0002c0004t0002 a0002c0004t0003 a0002c0004t0027 a0002c0005t0002 a0002c0005t0007 a0002c0005t0015 a0002c0005t0020 a0002c0005t0030 a0002c0008t0025 a0002c0009t0034 a0002c0026t0015 a0003c0017t0002 a0003c0018t0045 a0005c0025t0011	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0057 others(61): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0011g0033 a0001c0001t0014g0106 a0001c0001t0017g0065 a0001c0001t0018g0031 a0001c0001t0018g0039 a0001c0001t0031g0089 a0001c0001t0048g0085 a0001c0001t0050g0063 a0001c0001t0051g0083 a0001c0003t0001g0038 a0001c0003t0002g0002 a0001c0003t0005g0054 a0001c0003t0017g0067 a0001c0003t0037g0023 a0001c0003t0043g0081 a0001c0003t0052g0064 a0001c0003t0053g0074 a0001c0003t0054g0086 a0001c0006t0006g0029 a0001c0006t0029g0035 a0001c0006t0049g0071 a0001c0007t0010g0037 a0001c0007t0046g0066 a0001c0010t0009g0045 a0001c0011t0008g0101 a0001c0012t0001g0008 a0001c0013t0006g0036 a0001c0022t0042g0072 a0001c0023t0044g0084 a0002c0002t0004g0070 a0002c0002t0004g0077 a0002c0002t0012g0082 a0002c0002t0012g0104 a0002c0002t0014g0062 a0002c0002t0016g0073 a0002c0002t0016g0075 a0002c0002t0022g0105 a0002c0002t0023g0102 a0002c0002t0039g0058 a0002c0002t0041g0087 a0002c0004t0002g0001 a0002c0004t0002g0080 a0002c0004t0003g0034 a0002c0004t0027g0098 a0002c0005t0002g0061 a0002c0005t0007g0097 a0002c0005t0007g0100 a0002c0005t0015g0069 a0002c0005t0020g0056 a0002c0005t0030g0103 a0002c0008t0025g0024 a0002c0009t0034g0009 a0002c0026t0015g0079 a0003c0017t0002g0053 a0003c0018t0045g0052 a0005c0025t0011g0099	64	106	0.6038	176	c.169 others(195): Show c.169+18591_169+18592insTGGGGAGTACCGTGTGCAGTTTGGGG GAGTATTGGGGGAGTACCATGTGCAGTTTGGGGGAGGACCATGTGCAGTT TAGGGGAGTACCGTGTGCAGTTTGGGGGAGTATTGGGGAAGTACCATGTG CAGTTTGGGGGAATACCATGTGCAACTTGGGGGAGTACCATGCACAGCTT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61273529	A A	AGGGGAGT others(169): Show AGGGGAGTACCGTGTGCAGTTTGGGGGAGTATTGGGGGAGTACCATGTGC AGTTTGGGGGAGGACCATGTGCAGTTTAGGGGAGTACCGTGTGCAGTTTG GGGGAGTATTGGGGAAGTACCATGTGCAGTTTGGGGGAATACCATGTGCA ACTTGGGGGAGTACCATGCACAGCTTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG01081.hp1 others(26): Show HG00408.hp1 HG00639.hp1 HG01081.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01358.hp2 HG01884.hp2 HG02040.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02895.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03579.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp1 NA18522.hp2 NA18941.hp1 NA18952.hp2 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(11): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0001c0011 a0001c0021 a0002c0002 a0002c0004 a0002c0005 a0002c0009 a0002c0014 a0002c0015 a0002c0024 a0004c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0028 a0001c0001t0040 a0001c0003t0001 a0001c0003t0032 a0001c0007t0010 a0001c0010t0001 a0001c0011t0008 a0001c0021t0008 a0002c0002t0005 a0002c0002t0013 a0002c0004t0003 a0002c0004t0013 a0002c0004t0026 a0002c0005t0024 a0002c0009t0035 a0002c0014t0003 a0002c0015t0007 a0002c0024t0047 a0004c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0046 a0001c0001t0001g0049 others(26): Show a0001c0001t0001g0012 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0007 a0001c0001t0009g0013 a0001c0001t0009g0019 a0001c0001t0011g0005 a0001c0001t0019g0091 a0001c0001t0028g0016 a0001c0001t0040g0055 a0001c0003t0001g0020 a0001c0003t0032g0040 a0001c0007t0010g0018 a0001c0010t0001g0027 a0001c0011t0008g0003 a0001c0021t0008g0047 a0002c0002t0005g0014 a0002c0002t0005g0022 a0002c0002t0013g0017 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0013g0021 a0002c0004t0026g0050 a0002c0005t0024g0048 a0002c0009t0035g0026 a0002c0014t0003g0090 a0002c0015t0007g0025 a0002c0024t0047g0051 a0004c0019t0001g0015	29	106	0.2736	176	c.169 others(195): Show c.169+18615_169+18616insGGGAGTATTGGGGGAGTACCATGTGC AGTTTGGGGGAGGACCATGTGCAGTTTAGGGGAGTACCGTGTGCAGTTTG GGGGAGTATTGGGGAAGTACCATGTGCAGTTTGGGGGAATACCATGTGCA ACTTGGGGGAGTACCATGCACAGCTTGGGGGAGTACCGTGTGCAGTTTGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CERK_chr22_46679410_46743252	46680586	C C	CCATCCAC others(169): Show CCATCCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCC ATCCATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACCCAC CCATCCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCCATCC ATCCATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18980.hp1 NA18982.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19067.hp2 NA19076.hp1 NA19090.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0018 a0001c0019 a0001c0028 a0001c0031 a0001c0032 a0001c0038 a0002c0006 a0003c0036 a0004c0014 a0004c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0034 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0058 a0001c0001t0064 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0010 a0001c0003t0012 a0001c0005t0021 a0001c0005t0026 a0001c0018t0005 a0001c0019t0010 a0001c0028t0005 a0001c0031t0001 a0001c0032t0004 a0001c0038t0005 a0002c0006t0005 a0002c0006t0015 a0002c0006t0039 a0002c0006t0052 a0003c0036t0055 a0004c0014t0005 a0004c0021t0005	a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0122 others(80): Show a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0122 a0001c0001t0002g0186 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0003g0130 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0077 a0001c0001t0004g0092 a0001c0001t0004g0101 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0004g0139 a0001c0001t0004g0144 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0005g0015 a0001c0001t0005g0078 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0007g0009 a0001c0001t0007g0173 a0001c0001t0007g0175 a0001c0001t0007g0176 a0001c0001t0007g0196 a0001c0001t0007g0221 a0001c0001t0007g0237 a0001c0001t0007g0245 a0001c0001t0007g0250 a0001c0001t0007g0254 a0001c0001t0007g0257 a0001c0001t0007g0261 a0001c0001t0007g0283 a0001c0001t0007g0286 a0001c0001t0010g0001 a0001c0001t0010g0005 a0001c0001t0010g0052 a0001c0001t0010g0058 a0001c0001t0010g0061 a0001c0001t0011g0198 a0001c0001t0011g0239 a0001c0001t0012g0215 a0001c0001t0012g0267 a0001c0001t0012g0268 a0001c0001t0012g0271 a0001c0001t0019g0025 a0001c0001t0034g0304 a0001c0001t0034g0307 a0001c0001t0043g0032 a0001c0001t0044g0067 a0001c0001t0045g0111 a0001c0001t0046g0125 a0001c0001t0058g0194 a0001c0001t0064g0322 a0001c0002t0001g0046 a0001c0002t0001g0086 a0001c0002t0002g0192 a0001c0002t0002g0284 a0001c0002t0007g0262 a0001c0003t0010g0059 a0001c0003t0012g0247 a0001c0005t0021g0006 a0001c0005t0021g0165 a0001c0005t0026g0297 a0001c0018t0005g0028 a0001c0019t0010g0030 a0001c0019t0010g0031 a0001c0028t0005g0029 a0001c0031t0001g0147 a0001c0032t0004g0134 a0001c0038t0005g0160 a0002c0006t0005g0062 a0002c0006t0015g0002 a0002c0006t0015g0057 a0002c0006t0015g0080 a0002c0006t0039g0127 a0002c0006t0052g0252 a0003c0036t0055g0287 a0004c0014t0005g0012 a0004c0021t0005g0011	89	340	0.2618	176	c.65 others(187): Show c.6547_*6548insAATGGGTGGGTGGGTGGATGGATGGATGGATGGG TGGATGGATGGATGGACGGATGGATTGATGGATGGATGGATGGGTGGGTA GGTGGATGGATGGATGAATGGGTGGATGGGTGGGTGGATGGATGGATGGA AGGACGGATGGATGGATGAATGGGTGGGTGGGTGGGTGGATG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3823		chr22	TogoVar
CFAP46_chr10_132803392_132947570	132864699	C C	CGCCTGAG others(169): Show CGCCTGAGACCTGCACACACCTGTCCCCAGTGCCCGAGACCTGCACACAC CTGTCCCCCGCCTGAGACCTGCACACACCTGTCCCCAGTGCCCGAGACCT GCACACACCTGTCCCCAGTGCCCGAGACCTGCACACACCTGTCCCCCTGC CTGAGACCTGCACACACCTGCCCACAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01123.hp1 others(27): Show HG00544.hp2 HG00741.hp1 HG01123.hp1 HG01261.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03669.hp2 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA19004.hp2 NA20300.hp1 NA20905.hp2	a0008 a0009 a0013 others(11): Show a0008 a0009 a0013 a0018 a0023 a0024 a0028 a0029 a0032 a0045 a0046 a0051 a0062 a0071	a0008c0009 a0008c0097 a0009c0018 others(18): Show a0008c0009 a0008c0097 a0009c0018 a0009c0021 a0009c0043 a0013c0022 a0013c0061 a0018c0024 a0023c0058 a0023c0062 a0024c0036 a0024c0060 a0028c0027 a0029c0099 a0029c0100 a0032c0063 a0045c0059 a0046c0064 a0051c0105 a0062c0093 a0071c0098	a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 others(19): Show a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 a0009c0018t0001 a0009c0021t0001 a0009c0043t0001 a0013c0022t0001 a0013c0061t0001 a0018c0024t0001 a0023c0058t0001 a0023c0062t0001 a0024c0036t0001 a0024c0060t0001 a0028c0027t0002 a0029c0099t0002 a0029c0100t0002 a0032c0063t0001 a0045c0059t0001 a0046c0064t0001 a0051c0105t0001 a0062c0093t0001 a0071c0098t0002	a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 others(27): Show a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 a0008c0009t0001g0124 a0008c0009t0002g0101 a0008c0097t0001g0118 a0009c0018t0001g0172 a0009c0018t0001g0228 a0009c0021t0001g0243 a0009c0021t0001g0244 a0009c0043t0001g0155 a0013c0022t0001g0157 a0013c0022t0001g0158 a0013c0061t0001g0156 a0018c0024t0001g0211 a0018c0024t0001g0212 a0023c0058t0001g0154 a0023c0062t0001g0210 a0024c0036t0001g0169 a0024c0060t0001g0173 a0028c0027t0002g0028 a0028c0027t0002g0077 a0029c0099t0002g0017 a0029c0100t0002g0019 a0032c0063t0001g0213 a0045c0059t0001g0167 a0046c0064t0001g0214 a0051c0105t0001g0239 a0062c0093t0001g0121 a0071c0098t0002g0023	30	246	0.1220	176	c.489 others(195): Show c.4890+1325_4890+1326insCTGTGGGCAGGTGTGTGCAGGTCTCA GGCAGGGGGACAGGTGTGTGCAGGTCTCGGGCACTGGGGACAGGTGTGTG CAGGTCTCGGGCACTGGGGACAGGTGTGTGCAGGTCTCAGGCGGGGGACA GGTGTGTGCAGGTCTCGGGCACTGGGGACAGGTGTGTGCAGGTCTCAGGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	35/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888579	G G	GCACCCCT others(169): Show GCACCCCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCACCTTCACC CCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCCCTGC CGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCACCTTC ACCCCTGCCGCCTGCACCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0043 a0009c0043	a0009c0043t0001 a0009c0043t0001	a0009c0043t0001g0155 a0009c0043t0001g0155	1	246	0.0041	176	c.330 others(195): Show c.3305-2621_3305-2620insAAGGTGGCAGGTGCAGGCGGCAGGGG TGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGC GGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAG GGGTGAAGGTGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHCHD3_chr7_132779870_133087090	132985519	G G	GGCCCGGC others(169): Show GGCCCGGCCAGCCGCCCCATCCAGGAGGGAGGCGGGGAGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGCGGGGGGATCAGCCCCCCG CCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGTCTGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG02723.hp1 others(4): Show HG01884.hp1 HG02717.hp2 HG02723.hp1 HG02965.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(4): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0309	7	310	0.0226	176	c.252 others(195): Show c.252-10234_252-10233insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCAGACAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGG GCGGGGGGCTGATCCCCCCGCCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCTCCCCGCCTCCCTCCTGGATGGGGCGGCTGGCCGGGC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHM_chrX_85856180_86052558	85911152	T T	TATATATG others(169): Show TATATATGTATATATATATATATGAATATATATATATGAATATATATATG AATATATATATATGAATATATATATGAATATATATATATGAATATATATA TATGAATATATATATGAATATATATATGAATATATATATGAATATATATA TGAATATATATATGAATATATATATGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0079 a0001c0001t0007g0079	1	245	0.0041	176	c.124 others(193): Show c.1244+108_1244+109insTCATATATATATTCATATATATATTCAT ATATATATTCATATATATATTCATATATATATTCATATATATATTCATAT ATATATATTCATATATATATATTCATATATATATTCATATATATATATTC ATATATATATTCATATATATATATTCATATATATATATATACATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911164	T T	TATATATA others(169): Show TATATATATATATGAATATATATATATGAATATATATATGAATATATATA TGAATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATATATATGAATATATATATGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	245	0.0041	176	c.124 others(191): Show c.1244+96_1244+97insTCATATATATATTCATATATATATATTCAT ATATATATTCATATATATATTCATATATATATTCATATATATATATTCAT ATATATATTCATATATATATTCATATATATATTCATATATATATTCATAT ATATATTCATATATATATTCATATATATATATTCATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911216	A A	AATATATA others(169): Show AATATATATATGAATATATATATGAATATATATATGAATATATCTGAATA TATATATGAATATATATATGAATATATATATGAATATATATATGAATATA TATATGAATATATATATAAATATATATATGAATATATATATATATGAATA TATATATGAATATATATATATGAATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0077 a0001c0001t0007g0077	1	245	0.0041	176	c.124 others(191): Show c.1244+44_1244+45insATATTCATATATATATATTCATATATATAT TCATATATATATATATTCATATATATATTTATATATATATTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATTCATATATATAT TCAGATATATTCATATATATATTCATATATATATTCATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CLDN6_chr16_3009712_3023183	3016815	T T	TTTTTTTT others(169): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18906.hp1 HG02809.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	2	424	0.0047	176	c.-21 others(191): Show c.-21-774_-21-773insTTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	CLDN6	ENSG00000184697.7	transcript	ENST00000328796.5	protein_coding	1/1			chr16	TogoVar
CLDN9_chr16_3007923_3019505	3016815	T T	TTTTTTTT others(169): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 NA18906.hp1 HG02809.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	2	428	0.0047	176	c.27 others(187): Show c.2799_*2800insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA	CLDN9	ENSG00000213937.4	transcript	ENST00000445369.3	protein_coding		2311		chr16	TogoVar
CLSTN3_chr12_7125371_7163945	7148156	A A	AAAAGAAA others(169): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	394	0.0025	176	c.184 others(193): Show c.1848-757_1848-756insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
COL23A1_chr5_178232618_178595393	178395247	C C	CGTCCTCC others(169): Show CGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGA GTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0099 a0002c0003t0004g0100 a0002c0003t0004g0099 a0002c0003t0004g0100	2	236	0.0085	176	c.362 others(195): Show c.362-88504_362-88329dupAGCCGGGGCCGGAACCAAGCCTGGAC GTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGA CTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGA GAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGAC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178395532	C C	CGGCGGGC others(169): Show CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCTGTCCTCCGAGAGTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	236	0.0042	176	c.362 others(195): Show c.362-88614_362-88613insAGGGAGAGACTCTCGGAGGACAGCCG GGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAG CGCCTGCCCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCA AGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178395620	C C	CGGCGGGC others(169): Show CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCTGTCCTCCGAGAGTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	236	0.0042	176	c.362 others(195): Show c.362-88702_362-88701insAGGGAGAGACTCTCGGAGGACAGCCG GGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAG CGCCTGCCCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCA AGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178524940	A A	AAACTGCG others(169): Show AAACTGCGTAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0146 a0002c0003t0005g0146	1	236	0.0042	176	c.361 others(195): Show c.361+35741_361+35742insCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTACGCAGTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101359188	C C	CCCTCCCG others(169): Show CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 NA20129.hp1 HG02965.hp2 NA20129.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0007 a0002c0007t0004g0008 a0002c0007t0004g0007 a0002c0007t0004g0008	2	174	0.0115	176	c.-38 others(187): Show c.-3845_-3844insCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		3686		chr7	TogoVar
COL4A1_chr13_110143963_110312157	110255783	G G	GGGAAGGG others(169): Show GGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAAGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0035 a0004c0035	a0004c0035t0001 a0004c0035t0001	a0004c0035t0001g0067 a0004c0035t0001g0067	1	344	0.0029	176	c.85- others(193): Show c.85-13050_85-13049insTTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCTTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481323	T T	TTGCTGGA others(169): Show TTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTC TGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGAC ACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTG CTGGAGACACACTGCTCTGTCCCTCCG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02148.hp1 HG00544.hp1 HG02148.hp1	a0004 a0005 a0004 a0005	a0004c0009 a0005c0020 a0004c0009 a0005c0020	a0004c0009t0003 a0005c0020t0002 a0004c0009t0003 a0005c0020t0002	a0004c0009t0003g0055 a0005c0020t0002g0270 a0004c0009t0003g0055 a0005c0020t0002g0270	2	372	0.0054	176	c.275 others(193): Show c.2758+947_2758+948insAGTTCTGTCCCTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGC TGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCC CTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL9A3_chr20_62812050_62846159	62824141	T T	TGGAGTGG others(169): Show TGGAGTGGCCTCCTGGGGTCCCGTCACTGTGTGGAGTGGCCTCCTGGGGT CCTGTCACCCAGAGTGTCCCGACACCCGCGCGGAGTGGCCTCCCGGGGCC CCGTCACCCACGCGGAGTGGCCTCCTGGGGTCCCGTCATCTGTGCGGAGT GGCCTCCTGGGGTCCTGTCACTGATGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0039 a0006c0039	a0006c0039t0004 a0006c0039t0004	a0006c0039t0004g0108 a0006c0039t0004g0108	1	412	0.0024	176	c.520 others(191): Show c.520-284_520-283insCGTCACTGTGTGGAGTGGCCTCCTGGGGTC CTGTCACCCAGAGTGTCCCGACACCCGCGCGGAGTGGCCTCCCGGGGCCC CGTCACCCACGCGGAGTGGCCTCCTGGGGTCCCGTCATCTGTGCGGAGTG GCCTCCTGGGGTCCTGTCACTGATGCGGAGTGGCCTCCTGGGGTCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(169): Show CACCCCCCACCGTGCTCCACCCCCCACCACAGTCCCCCACCCCCCACCCC AGTCCCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACC CCCTACCACAGTCCCCCACCCCCTACCACAGTCCCCCAACCCCCACCACA GTCCCCCACCCCCACCACAGTCCGCCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 NA18960.hp1 HG02109.hp2 HG02809.hp1 NA18960.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0001c0010 a0025c0068 a0001c0001 a0001c0010 a0025c0068	a0001c0001t0001 a0001c0010t0004 a0025c0068t0001 a0001c0001t0001 a0001c0010t0004 a0025c0068t0001	a0001c0001t0001g0232 a0001c0010t0004g0246 a0025c0068t0001g0337 a0001c0001t0001g0232 a0001c0010t0004g0246 a0025c0068t0001g0337	3	412	0.0073	176	c.128 others(191): Show c.1287+69_1287+70insCACCGTGCTCCACCCCCCACCACAGTCCCC CACCCCCCACCCCAGTCCCCAAACCCCTACCACAGTCCCCCAACCCCACC ACAGTCCCCCACCCCCTACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCCACCACAGTCCCCCACCCCCACCACAGTCCGCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar

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