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
C1orf159_chr1_1076823_1121089	1078505	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	222	0.0045	210	c.43 others(221): Show c.4387_*4388insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3317		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078531	G G	GGGGAGGC others(203): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCTGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	305	0.0033	210	c.43 others(221): Show c.4361_*4362insGGCACAGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCC ATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3291		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078681	C C	CGGGAGGC others(203): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	107	0.0093	210	c.42 others(221): Show c.4211_*4212insCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3141		chr1	TogoVar
CABLES2_chr20_62383634_62412285	62398109	G G	GTGGTGGT others(203): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGT GGTGGTGACGGTGGTGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGATGGTGGTG GAGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01943.hp1 HG01243.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0113 a0001c0001t0026g0114 a0001c0001t0001g0113 a0001c0001t0026g0114	2	304	0.0066	210	c.363 others(227): Show c.363-1518_363-1517insTCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCTCCACCACCATCACCACCA CCACCACCGTCACCACCACCACCACCACCACCACCATCACCACCACCTCC ACCACCATCACCACCACCACCACCGTCACCACCACCTCCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(203): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0107 a0003c0107	a0003c0107t0004 a0003c0107t0004	a0003c0107t0004g0171 a0003c0107t0004g0171	1	194	0.0052	210	c.300 others(227): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(203): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG00735.hp1 HG01167.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0170 a0018c0029t0001g0183 a0018c0029t0001g0170 a0018c0029t0001g0183	2	195	0.0103	210	c.300 others(227): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191557	C C	CTGACCCA others(203): Show CTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTT TCGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGG GTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGG GGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCACACT CAGGGTTTTGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0003 a0005c0023t0003	a0005c0023t0003g0044 a0005c0023t0003g0044	1	332	0.0030	210	c.300 others(227): Show c.300-3341_300-3340insCTGTGTGGCCTCAGGCACACTCGGGGTC TCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGT TTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCAG GGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACT CGGGGTTTCGGTGACCCAGCAGGCTGGCCTGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNB4_chr2_151827771_152104044	151876665	G G	GCTATATT others(203): Show GCTATATTTTATATAAACTATATTTTATATGTATATGTGTGTATACTATA TTTTATATACTATACTATATACTATATTTTATATAAACTATATTTTATAT GTATATGTGTGTATACTATATTTTATATACTATACTATAGACTATATTTT ATATAAACTATATTTTATATGTATATGTGTGTATACTATATTTTATATAC TATACTATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0196 a0001c0001t0018g0196	1	230	0.0043	210	c.391 others(225): Show c.391-110_391-109insTATATAGTATAGTATATAAAATATAGTATA CACACATATACATATAAAATATAGTTTATATAAAATATAGTCTATAGTAT AGTATATAAAATATAGTATACACACATATACATATAAAATATAGTTTATA TAAAATATAGTATATAGTATAGTATATAAAATATAGTATACACACATATA CATATAAAATATAGTTTATATAAAATATAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	4/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152074603	T T	TCTCCACC others(203): Show TCTCCACCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCA TCACCCCCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCAT TACCACCTCCACCATCACCATCACCCCCTCACCATTACCACCTCTATCAT CACCATCACCCCCTCACCATTACCACCTCCACCATCACCATCACCCCCTC ACCATTACCAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG03471.hp1 HG02630.hp1 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0028 a0001c0001t0002 a0001c0001t0004 a0001c0003t0028	a0001c0001t0002g0020 a0001c0001t0004g0129 a0001c0003t0028g0130 a0001c0001t0002g0020 a0001c0001t0004g0129 a0001c0003t0028g0130	3	115	0.0261	210	c.147 others(229): Show c.147+23726_147+23727insGTGGTAATGGTGAGGGGGTGATGGTG ATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGATAGAGGTGGTA ATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGA TGGTGATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGG TGGTAATGGTGAGGGGGTGATGGTGATGGTGGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152074609	C C	CCATCACC others(203): Show CCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCATCACCC CCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCATTACCAC CTCCACCATCACCATCACCCCCTCACCATTACCACCTCTATCATCACCAT CACCCCCTCACCATTACCACCTCCACCATCACCATCACCCCCTCACCATT ACCACCTCTAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	1	132	0.0076	210	c.147 others(229): Show c.147+23720_147+23721insATAGAGGTGGTAATGGTGAGGGGGTG ATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGATAGAG GTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTAATGGTGAGG GGGTGATGGTGATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGG TGGAGGTGGTAATGGTGAGGGGGTGATGGTGATG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(203): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATATACGCGTATATATATGTATATACATATATA CGCGTATATATATGTATATACATATATATACGCGTATATATATGTATATA CATATATATACGCGTATATATATGTATATACATATATATACGCGTATATA TATGTATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19240.hp1 HG02717.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0026 a0001c0001t0003 a0001c0001t0026	a0001c0001t0003g0040 a0001c0001t0026g0002 a0001c0001t0003g0040 a0001c0001t0026g0002	2	50	0.0400	210	c.125 others(229): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATATGTATATACATATATATACGCGTATATATGTATATAC ATATATATACGCGTATATATATGTATATACATATATATACGCGTATATAT GTATATACATATATATACGCGTATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18990.hp2 NA18991.hp1 others(1): Show NA18943.hp2 NA18990.hp2 NA18991.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0054 a0002c0002t0001g0148 a0002c0002t0001g0149 others(1): Show a0002c0002t0001g0054 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0003g0217	4	14	0.2857	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTGTGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18944.hp1 NA18972.hp1 others(1): Show HG00639.hp1 NA18944.hp1 NA18972.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004	a0002c0002t0001g0254 a0002c0002t0003g0015 a0002c0002t0003g0251 others(1): Show a0002c0002t0001g0254 a0002c0002t0003g0015 a0002c0002t0003g0251 a0002c0002t0004g0256	4	14	0.2857	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTGTGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTGTGTG TATATATACACACATATATGTGTGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0165 a0002c0002t0001g0165	1	11	0.0909	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTGTGTGTATATATACACACATATATGTGTGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0049 a0002c0002t0019g0049	1	11	0.0909	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp2 HG02738.hp2 others(2): Show HG01069.hp1 HG01256.hp2 HG02738.hp2 HG03927.hp2 HG04204.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0002 a0005c0006t0002 a0002c0002t0002 a0005c0006t0002	a0002c0002t0002g0067 a0002c0002t0002g0157 a0002c0002t0002g0258 others(2): Show a0002c0002t0002g0067 a0002c0002t0002g0157 a0002c0002t0002g0258 a0005c0006t0002g0016 a0005c0006t0002g0144	5	15	0.3333	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTGTGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTG TATATATACACACATATATGTGTGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	11	0.0909	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTGTGTGTATATATACACACATATATGTGTGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004201	G G	GTTAGGGA others(203): Show GTTAGGGAAGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGTGTTAGGGAG AGGGGGGTTAGGGAGAGGGGGGTTAGGGAGAGGGGAGTTAGGGAGAGGAG TTGGGGGGGAGTTAGGGAGGGGTGTTAGGGAGAGGGGGGTTAGGGAGAGG GGGGTTAGGGAGAAGGGAGTTAGGGAAGGGAGTTAGGGAGAGGGGAGTTA GGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0196 a0003c0007t0006g0196	1	381	0.0026	210	c.-14 others(229): Show c.-147+5462_-147+5463insTCCCCCCTCCCTAACTCCCCTCTCCC TAACTCCCTTCCCTAACTCCCTTCTCCCTAACCCCCCTCTCCCTAACCCC CCTCTCCCTAACACCCCTCCCTAACTCCCCCCCAACTCCTCTCCCTAACT CCCCTCTCCCTAACCCCCCTCTCCCTAACCCCCCTCTCCCTAACACCCCT CCCTAACTCCCCTCTCCCTAACTCCCTTCCCTAA	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181787	A A	ACTCACAC others(203): Show ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC AGACACAACCACACCACACTCACACACACACACTCACATACAGACACAAC CACACCACACACACACACACAGACACAACCACACCACACACACACCCAAC CACACCACACT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	441	0.0023	210	c.193 others(227): Show c.1938+468_1938+469insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACACACACACACAGACACAACC ACACCACACACACACCCAACCACACCACACTC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(203): Show AAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0048 a0001c0002t0003g0048	1	282	0.0035	210	c.234 others(227): Show c.234+6849_234+6850insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCT CCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAGGAA others(203): Show AAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGA GAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01978.hp1 HG02293.hp1 HG01106.hp1 HG01978.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0109 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0109	3	284	0.0106	210	c.234 others(227): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AGGAGGAA others(203): Show AGGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGA GAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	283	0.0071	210	c.234 others(227): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761464	G G	GGGAAGGG others(203): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAA GGAGAAGGAGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	144	0.0069	210	c.234 others(227): Show c.234+6843_234+6844insTCTCCTTCTCCTTCTCCTTCTCCTTCTT CTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGGGCAA others(203): Show AAGGGCAACAGAATAAGACTCAGTCAAAAAAAAAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAG GAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0011 a0002c0003t0010g0011	1	295	0.0034	210	c.234 others(227): Show c.234+6831_234+6832insCCTTCTCCTTCCTCTTCCTCTCCTTCTC CTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT TTTTTTTTGACTGAGTCTTATTCTGTTGCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(203): Show TTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTC CTCCGGAGCCC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	310	0.0032	210	c.336 others(225): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(203): Show TTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCTGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTC CTCCGGAGCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG03239.hp2 others(1): Show HG01243.hp2 HG01261.hp2 HG03239.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0233 a0001c0001t0001g0336 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0233 a0001c0001t0001g0336 a0001c0001t0001g0338	4	313	0.0128	210	c.336 others(225): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CAGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDH23_chr10_71391920_71820947	71688885	G G	GGGTGGTG others(203): Show GGGTGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTG GTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGGTGGTGGA GTCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAG GGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATG GTGGAGCCAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00621.hp1 others(57): Show HG00140.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01167.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG03041.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18950.hp2 NA18953.hp1 NA18963.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18981.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp1 NA19085.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0019 a0020 a0022 a0025 a0028 a0031 a0032 a0033 a0035 a0036 a0042 a0052 a0053 a0054 a0058 a0060 a0062 a0067 a0081 a0084 a0085 a0087 a0088 a0089 a0091 a0092 a0096 a0099 a0103	a0001c0087 a0002c0001 a0002c0127 others(51): Show a0001c0087 a0002c0001 a0002c0127 a0003c0089 a0003c0128 a0004c0027 a0004c0111 a0007c0003 a0007c0105 a0009c0123 a0010c0004 a0011c0086 a0012c0019 a0013c0036 a0014c0033 a0014c0110 a0015c0015 a0015c0030 a0017c0042 a0017c0043 a0019c0053 a0019c0119 a0020c0046 a0020c0047 a0022c0016 a0025c0140 a0025c0145 a0028c0097 a0031c0054 a0032c0029 a0032c0129 a0033c0058 a0033c0095 a0035c0020 a0036c0109 a0042c0132 a0052c0108 a0053c0067 a0054c0049 a0058c0091 a0060c0094 a0062c0085 a0067c0032 a0081c0041 a0084c0161 a0085c0098 a0087c0112 a0088c0081 a0089c0137 a0091c0138 a0092c0034 a0096c0031 a0099c0093 a0103c0124	a0001c0087t0004 a0002c0001t0011 a0002c0127t0001 others(54): Show a0001c0087t0004 a0002c0001t0011 a0002c0127t0001 a0003c0089t0002 a0003c0128t0001 a0004c0027t0005 a0004c0111t0006 a0007c0003t0001 a0007c0003t0002 a0007c0105t0002 a0009c0123t0017 a0010c0004t0001 a0010c0004t0002 a0011c0086t0006 a0012c0019t0009 a0013c0036t0004 a0014c0033t0014 a0014c0110t0002 a0015c0015t0002 a0015c0015t0010 a0015c0030t0001 a0017c0042t0020 a0017c0043t0006 a0019c0053t0001 a0019c0119t0010 a0020c0046t0001 a0020c0047t0002 a0022c0016t0012 a0025c0140t0008 a0025c0145t0009 a0028c0097t0007 a0031c0054t0005 a0032c0029t0003 a0032c0129t0004 a0033c0058t0001 a0033c0095t0001 a0035c0020t0003 a0036c0109t0005 a0042c0132t0001 a0052c0108t0006 a0053c0067t0005 a0054c0049t0001 a0058c0091t0011 a0060c0094t0001 a0062c0085t0001 a0067c0032t0003 a0081c0041t0001 a0084c0161t0008 a0085c0098t0003 a0087c0112t0002 a0088c0081t0011 a0089c0137t0025 a0091c0138t0009 a0092c0034t0001 a0096c0031t0007 a0099c0093t0001 a0103c0124t0006	a0001c0087t0004g0057 a0002c0001t0011g0013 a0002c0127t0001g0146 others(57): Show a0001c0087t0004g0057 a0002c0001t0011g0013 a0002c0127t0001g0146 a0003c0089t0002g0047 a0003c0128t0001g0121 a0004c0027t0005g0044 a0004c0111t0006g0088 a0007c0003t0001g0091 a0007c0003t0002g0062 a0007c0105t0002g0073 a0009c0123t0017g0110 a0010c0004t0001g0097 a0010c0004t0002g0075 a0010c0004t0002g0086 a0011c0086t0006g0065 a0012c0019t0009g0024 a0012c0019t0009g0025 a0013c0036t0004g0072 a0014c0033t0014g0094 a0014c0110t0002g0124 a0015c0015t0002g0096 a0015c0015t0010g0004 a0015c0030t0001g0147 a0017c0042t0020g0001 a0017c0043t0006g0095 a0019c0053t0001g0131 a0019c0119t0010g0007 a0020c0046t0001g0140 a0020c0047t0002g0068 a0022c0016t0012g0014 a0022c0016t0012g0015 a0025c0140t0008g0002 a0025c0145t0009g0023 a0028c0097t0007g0186 a0031c0054t0005g0112 a0032c0029t0003g0196 a0032c0129t0004g0092 a0033c0058t0001g0153 a0033c0095t0001g0185 a0035c0020t0003g0172 a0036c0109t0005g0113 a0042c0132t0001g0144 a0052c0108t0006g0045 a0053c0067t0005g0104 a0054c0049t0001g0081 a0058c0091t0011g0012 a0060c0094t0001g0161 a0062c0085t0001g0168 a0067c0032t0003g0122 a0081c0041t0001g0178 a0084c0161t0008g0018 a0085c0098t0003g0162 a0087c0112t0002g0102 a0088c0081t0011g0028 a0089c0137t0025g0064 a0091c0138t0009g0026 a0092c0034t0001g0158 a0096c0031t0007g0139 a0099c0093t0001g0183 a0103c0124t0006g0054	60	192	0.3125	210	c.205 others(229): Show c.2059+1182_2059+1183insGTGGTGGAGCCAGGGGTGGTGGAGTC AGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGG TGGTGGAGTCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTG GACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTC AGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDHR2_chr5_176544342_176600824	176591707	G G	GTGGTGAT others(203): Show GTGGTGATGATGGTGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0169 a0001c0008t0001g0170 a0001c0008t0001g0169 a0001c0008t0001g0170	2	342	0.0058	210	c.373 others(227): Show c.3734+225_3734+226insGTGATGATGGTGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGG TTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGA TGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGG TGATGGTTGTGATGGTGATGGTGGTGATGATG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF4_chr18_37238040_37570798	37337987	C C	CCATTGTC others(203): Show CCATTGTCACCACTACTGTCACTGCCACCACCACCACTGTCGCTGCCACC ATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATTGTCAC CACTATCATTGTCACCACTACTGTCACTGCCACCACCACCACTGTCGCTG CCACCATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATT GTCACCACTAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18522.hp2 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0177 a0001c0001t0004g0001 a0001c0001t0001g0177 a0001c0001t0004g0001	2	128	0.0156	210	c.370 others(229): Show c.370-16107_370-16106insATAGTGGTGACAATGGTGTCAGTGAC AGTCATAGTGACAAGGTTAAGGTAACAGATGGTGGCAGCGACAGTGGTGG TGGTGGCAGTGACAGTAGTGGTGACAATGATAGTGGTGACAATGGTGTCA GTGACAGTCATAGTGACAAGGTTAAGGTAACAGATGGTGGCAGCGACAGT GGTGGTGGTGGCAGTGACAGTAGTGGTGACAATG	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37338381	T T	TGTCACTG others(203): Show TGTCACTGACACCATTGTCACCACTATCATTGTCACCACTACTGTCACTG CCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAACCTTGTCACT ATGACTGTCACTGACACCATTGTCACCACTATCATTGTCACCACTACTGT CACTGCCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAACCTTG TCACTATGACC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	144	0.0069	210	c.370 others(229): Show c.370-16501_370-16500insGGTCATAGTGACAAGGTTAAGGTAAC AGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGTAGTGGTGACA ATGATAGTGGTGACAATGGTGTCAGTGACAGTCATAGTGACAAGGTTAAG GTAACAGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGTAGTGG TGACAATGATAGTGGTGACAATGGTGTCAGTGAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELSR1_chr22_46356174_46542620	46487606	C C	CGGGGGAG others(203): Show CGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTC CAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGG GGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGG GAGTCCAGGGTGCAGGTGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCAG GTGGGGGGCGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01099.hp2 others(6): Show HG00642.hp2 HG00735.hp1 HG01099.hp2 HG01261.hp1 HG03471.hp2 HG03710.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0013 a0032 a0043 a0045	a0001c0001 a0001c0017 a0001c0027 others(6): Show a0001c0001 a0001c0017 a0001c0027 a0002c0015 a0004c0013 a0013c0007 a0032c0018 a0043c0042 a0045c0037	a0001c0001t0001 a0001c0017t0001 a0001c0027t0001 others(6): Show a0001c0001t0001 a0001c0017t0001 a0001c0027t0001 a0002c0015t0001 a0004c0013t0001 a0013c0007t0001 a0032c0018t0002 a0043c0042t0001 a0045c0037t0008	a0001c0001t0001g0075 a0001c0017t0001g0018 a0001c0027t0001g0079 others(6): Show a0001c0001t0001g0075 a0001c0017t0001g0018 a0001c0027t0001g0079 a0002c0015t0001g0022 a0004c0013t0001g0023 a0013c0007t0001g0004 a0032c0018t0002g0021 a0043c0042t0001g0052 a0045c0037t0008g0026	9	98	0.0918	210	c.354 others(231): Show c.3545-23262_3545-23261insACGCCCCCCACCTGCACCCTGGAC TCCCCTCCCCCGCGCCTCCCACCTGCACCCTGGACTCCCCTCCCCCGCGC CCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACCC TGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCCC CGCGCCCCCCACCTGCACCCTGGACTCCCCTCCCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEP72_chr5_607340_658553	650908	T T	TGTGACTG others(203): Show TGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01192.hp1 others(6): Show HG01069.hp1 HG01070.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG03688.hp2 HG03834.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028	9	32	0.2813	210	c.177 others(229): Show c.1779-2077_1779-2076insACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGA GGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132917898	T T	TGCACCTC others(203): Show TGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCG ATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCTC CACGACGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAG CACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCC CTCTCCACGAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0002 a0010c0072t0002	a0010c0072t0002g0004 a0010c0072t0002g0004	1	202	0.0050	210	c.198 others(227): Show c.1986+285_1986+494dupGTCGTGGAGAGGGGGGTTCATCGGTGCT GAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGTCGTGGA GAGGGGGGTTCATCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCATCG GTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGTC GTGGAGAGGGGGGTTCATCGGTGCTGAGGTGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CHMP1A_chr16_89639435_89662708	89647522	A A	AGACCCAG others(203): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGT CCGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	390	0.0026	210	c.253 others(225): Show c.253-192_253-191insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCACTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647656	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	215	0.0047	210	c.253 others(225): Show c.253-326_253-325insACTGGGTCTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647691	G G	CACCCAGT others(203): Show CACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	337	0.0030	210	c.253 others(225): Show c.253-360_253-359insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647775	G G	GACCCAGT others(203): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGG CCGACGTGGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	347	0.0029	210	c.253 others(225): Show c.253-445_253-444insGTCCACGTCGGCCGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGC CGCCTTTTCTCCACCGACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647847	C C	CGCCGACG others(203): Show CGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGAGACC CAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGACACCCAGCGCGG GGTCCGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTG GAGAAAAGGCG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03654.hp2 HG02738.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	328	0.0061	210	c.253 others(225): Show c.253-517_253-516insCGCCTTTTCTCCACCGACCCCGCGCTGGGT CTCCACGTCGGCCGCCTTTTCTCCACGGACCCCGCGCTGGGTGTCCACGT CGGCCGCCTTTTCTCCACGGACCCCGCGCTGGGTCTCCACGTCGGCCGCC TTTTCTCCACGGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCGCTGGGTCCCCACGTCGGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648043	G G	GGTGGAGA others(203): Show GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGACACCCA GCGCGGGGTCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0280 a0001c0001t0021g0280	1	330	0.0030	210	c.253 others(225): Show c.253-713_253-712insGGACCCCGCGCTGGGTGTCCACGTCGGCCG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCT CCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACGGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCT GGGTCTCCACGTCGGCGGCCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648118	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GAGGACCCAGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	290	0.0034	210	c.253 others(225): Show c.253-788_253-787insACTGGGTCCTCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648153	G G	GACCCAGT others(203): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	357	0.0028	210	c.253 others(225): Show c.253-823_253-822insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648183	C C	CGCCGACG others(203): Show CGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACC CAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTG GAGAAAAGGCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	316	0.0032	210	c.253 others(225): Show c.253-853_253-852insAGCCTTTTCTCCACCGACCCCGCACTGGGT CTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCACTGGGTGTCCACGTCGGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648194	A A	AGACCCAG others(203): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	278	0.0036	210	c.253 others(225): Show c.253-864_253-863insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648320	A A	AGACCCAG others(203): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	315	0.0032	210	c.253 others(225): Show c.253-990_253-989insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTGTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648328	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0045 a0001c0001t0014g0045	1	261	0.0038	210	c.253 others(225): Show c.253-998_253-997insACTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648404	G G	GGACCCAG others(203): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0044	1	108	0.0093	210	c.252 others(225): Show c.252+946_252+947insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	230	0.0043	210	c.252 others(225): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCGGCCTTTTCTC CACGGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	230	0.0043	210	c.252 others(225): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG04199.hp1 HG01891.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0135 a0001c0001t0001g0139	2	231	0.0087	210	c.252 others(225): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648428	A A	AAAAGGCC others(203): Show AAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	389	0.0026	210	c.252 others(225): Show c.252+922_252+923insGCTCCACCGACCCCGCGCTGGGTCTCCACG TCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGC CTTTTCTCCACGGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTC CACGGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCGGCCTTT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar

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