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
BNC2_chr9_16404503_16875670	16682301	A A	ACATCATA others(312): Show ACATCATAGGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTGGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCGGCTAATTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAAGCGTGAGCCACCGCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02965.hp1 HG01074.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0056 a0001c0001t0025g0027 a0001c0001t0001g0056 a0001c0001t0025g0027	2	176	0.0114	319	c.330 others(338): Show c.330+45495_330+45496insCGCGGTGGCTCACGCTTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCTGCCTGGGCCACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTATGATG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BRCA2_chr13_32310508_32405268	32348295	T T	TAAAAGTT others(312): Show TAAAAGTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01928.hp1 HG01981.hp2 others(6): Show HG01192.hp1 HG01928.hp1 HG01981.hp2 HG02293.hp1 NA18906.hp2 NA18955.hp1 NA18963.hp2 NA18965.hp1 NA20905.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0003c0051 a0006c0009 a0003c0005 a0003c0051 a0006c0009	a0003c0005t0003 a0003c0005t0007 a0003c0051t0003 others(1): Show a0003c0005t0003 a0003c0005t0007 a0003c0051t0003 a0006c0009t0003	a0003c0005t0003g0022 a0003c0005t0003g0033 a0003c0005t0003g0034 others(6): Show a0003c0005t0003g0022 a0003c0005t0003g0033 a0003c0005t0003g0034 a0003c0005t0003g0035 a0003c0005t0007g0027 a0003c0005t0007g0289 a0003c0051t0003g0032 a0006c0009t0003g0023 a0006c0009t0003g0024	9	398	0.0226	319	c.700 others(338): Show c.7007+1406_7007+1407insTTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTT	BRCA2	ENSG00000139618.18	transcript	ENST00000380152.8	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(312): Show AGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGATGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGT CTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCG GTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAG GGGTGCCGGTGGGGGTCTCG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0254 a0002c0002t0023g0254	1	360	0.0028	319	c.92- others(332): Show c.92-787_92-786insATGTCTCAGCGGAGGAGGGGTGCCGGTGGGGG TCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCC GGTGGATGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA GGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG GCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG GGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGT GCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(312): Show AGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGT CTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCG GTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAG GGGTGCCGGTGGGGGTCTCG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0327 a0002c0002t0015g0327	1	360	0.0028	319	c.92- others(332): Show c.92-787_92-786insATGTCTCAGCGGAGGAGGGGTGCCGGTGGGGG TCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCC GGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA GGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG GCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG GGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGT GCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(312): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01099.hp1 HG01433.hp1 others(11): Show HG00408.hp1 HG01099.hp1 HG01433.hp1 HG01934.hp2 HG02132.hp2 HG03704.hp1 NA18965.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18983.hp2 NA19064.hp1 NA19076.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 others(4): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0002t0003 a0001c0002t0047 a0001c0002t0073 a0001c0007t0002	a0001c0001t0006g0063 a0001c0001t0009g0040 a0001c0001t0014g0020 others(7): Show a0001c0001t0006g0063 a0001c0001t0009g0040 a0001c0001t0014g0020 a0001c0002t0003g0002 a0001c0002t0003g0012 a0001c0002t0003g0236 a0001c0002t0003g0274 a0001c0002t0047g0243 a0001c0002t0073g0008 a0001c0007t0002g0020	14	416	0.0337	319	c.-42 others(330): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C13orf46_chr13_113948705_113979076	113961472	A A	AGAAATAA others(312): Show AGAAATAACTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TCAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19067.hp2 HG01261.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	2	414	0.0048	319	c.572 others(336): Show c.572+3454_572+3455insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTTATTTC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C17orf80_chr17_73227433_73253959	73249699	T T	TAAAAGAT others(312): Show TAAAAGATGGTAATACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0015 a0001c0016t0015	a0001c0016t0015g0086 a0001c0016t0015g0086	1	384	0.0026	319	c.23 others(330): Show c.2358_*2359insAAAAGATGGTAATACCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAA	C17orf80	ENSG00000141219.16	transcript	ENST00000535032.7	protein_coding		741		chr17	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGG GGGCCCCGCGGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	394	0.0025	319	c.-44 others(330): Show c.-4458_-4457insCGCGCCCCCCCGCGGGGCCCCCGCCGCCGCCGCC GCCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGT CGCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCA CAGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGG GGGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	319	c.-44 others(330): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCCGCCGCCGCCGCC GCCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGT CGCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCA CAGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCG GGGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	394	0.0025	319	c.-44 others(330): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCG GGGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	319	c.-44 others(330): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCG GGGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01192.hp1 others(12): Show HG00558.hp2 HG00673.hp2 HG01192.hp1 HG02027.hp1 HG02027.hp2 HG02738.hp1 HG03669.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18985.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0058 a0001c0001t0002g0014	15	394	0.0381	319	c.-44 others(330): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(312): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGTCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCG GGGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	319	c.-44 others(330): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGACCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCCC GGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C3orf52_chr3_112081389_112123210	112104892	T T	TGAGACGC others(312): Show TGAGACGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCT GACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	372	0.0027	319	c.396 others(336): Show c.396+1939_396+1940insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCT CGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGAGACGCTTCTT	C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
C4orf19_chr4_37448925_37598510	37585181	A A	AGAGGGGA others(312): Show AGAGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAG GTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGA GATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGTT GAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGA GAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGG GTGGAGGAGAGGTATTGAGG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0315 a0001c0001t0010g0315	1	354	0.0028	319	c.-22 others(336): Show c.-22-3585_-22-3584insGTTGAGGGAGAGGAGGGGAGATCAGAGG TGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAG AGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGG GAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTG AGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTGGAGGAG AGGTATTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAGGG GAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585301	A A	AGGAGGGG others(312): Show AGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGT TGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGG AGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGG GAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGG TGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	354	0.0028	319	c.-22 others(336): Show c.-22-3535_-22-3534insGGAGAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAG GAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTG AGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAG AGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGG GAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585409	T T	TGAGGGAG others(312): Show TGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGG AAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAG GGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGG GAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGTAGAGGAGAGG TATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAG AGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGG GAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	354	0.0028	319	c.-22 others(336): Show c.-22-3423_-22-3422insGAGAGGAGAGATGTTGAGGGAGGGGAGG GGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGG AGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGAT GTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGTAGA GGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGG AGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGA GGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585445	G G	GAGGAGGG others(312): Show GAGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTG TTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAG GAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGA GGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAG GGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAG GTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGA GATCAGAGGTGTTGAGGGAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0164	1	354	0.0028	319	c.-22 others(336): Show c.-22-3401_-22-3400insAGGAGGGGAGAGGAAAGGTGTTGAGGGA AGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTG TTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAT CAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAG GGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAG GTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004539	G G	GTGATGAT others(312): Show GTGATGATATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATG ATGGTGATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGAT GGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGT GATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATAGTGATGATG GTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGAT GATGACGGTGATGGTGATGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02559.hp2 others(5): Show HG01167.hp1 HG01891.hp1 HG02559.hp2 HG02717.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 NA19030.hp2	a0005 a0015 a0031 others(2): Show a0005 a0015 a0031 a0051 a0085	a0005c0005 a0015c0015 a0031c0033 others(2): Show a0005c0005 a0015c0015 a0031c0033 a0051c0055 a0085c0104	a0005c0005t0000 a0015c0015t0000 a0031c0033t0000 others(2): Show a0005c0005t0000 a0015c0015t0000 a0031c0033t0000 a0051c0055t0000 a0085c0104t0000	a0005c0005t0000g0297 a0005c0005t0000g0298 a0005c0005t0000g0300 others(5): Show a0005c0005t0000g0297 a0005c0005t0000g0298 a0005c0005t0000g0300 a0015c0015t0000g0050 a0015c0015t0000g0051 a0031c0033t0000g0296 a0051c0055t0000g0066 a0085c0104t0000g0299	8	346	0.0231	319	c.963 others(336): Show c.963+3456_963+3457insTCATCACCATCACCGTCATCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCA CTATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCAT CACCATCACATCATCACCATCACCATCATCACCATCATCACCATCATCAA CATCATCACCATCACCATCATAACTATCACCATCATCACCATCATCACCA TCACATCATCACCATCACCATCATCACCATCAATATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004539	G G	GTGATGAT others(312): Show GTGATGATATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATG ATGGTGATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGAT GGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGT GATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATAGTGATGATG GTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGAT GATGATGGTGATGGTGATGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG03471.hp1 others(1): Show HG02257.hp2 HG02922.hp1 HG03471.hp1 HG03486.hp1	a0001 a0022 a0038 a0001 a0022 a0038	a0001c0001 a0022c0022 a0038c0039 a0001c0001 a0022c0022 a0038c0039	a0001c0001t0000 a0022c0022t0000 a0038c0039t0000 a0001c0001t0000 a0022c0022t0000 a0038c0039t0000	a0001c0001t0000g0159 a0001c0001t0000g0218 a0022c0022t0000g0065 others(1): Show a0001c0001t0000g0159 a0001c0001t0000g0218 a0022c0022t0000g0065 a0038c0039t0000g0158	4	346	0.0116	319	c.963 others(336): Show c.963+3456_963+3457insTCATCACCATCACCATCATCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCA CTATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCAT CACCATCACATCATCACCATCACCATCATCACCATCATCACCATCATCAA CATCATCACCATCACCATCATAACTATCACCATCATCACCATCATCACCA TCACATCATCACCATCACCATCATCACCATCAATATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C5orf47_chr5_173984170_174011140	174007075	T T	TAGAAACC others(312): Show TAGAAACCTACTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG ACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	382	0.0026	319	c.28 others(330): Show c.2821_*2822insAGAAACCTACTCAAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	C5orf47	ENSG00000185056.10	transcript	ENST00000340147.7	protein_coding		936		chr5	TogoVar
C7orf33_chr7_148585766_148620860	148616894	A A	ACCCTCCC others(312): Show ACCCTCCCTCAACACACGGGAATTACAGATCCCTCCCTCAACACACGGGA ATTACAGATCCCTCCCTCAACACACGGGAATTACAGATCCCTCCCGCAGC ACACGGGAATTACAGATCCCTCCCTCAACACACGGGAATTACAGATCCCT CCCTCAACACACGGGAATTACAGATCCCTCCCTCAACACACGGGAATTAC AGATCCCTCCCTCAACACACGGGAATTACAGATCCCTCCCTCAACACACG GGAATTACAGATCCCTCCCTCAACACACGGGAATTACAGATCCCTCCCTC AACACACGGGAATTACAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0387 a0001c0001t0002g0387	1	444	0.0023	319	c.14 others(330): Show c.1493_*1494insCCCTCCCTCAACACACGGGAATTACAGATCCCTC CCTCAACACACGGGAATTACAGATCCCTCCCTCAACACACGGGAATTACA GATCCCTCCCGCAGCACACGGGAATTACAGATCCCTCCCTCAACACACGG GAATTACAGATCCCTCCCTCAACACACGGGAATTACAGATCCCTCCCTCA ACACACGGGAATTACAGATCCCTCCCTCAACACACGGGAATTACAGATCC CTCCCTCAACACACGGGAATTACAGATCCCTCCCTCAACACACGGGAATT ACAGATCCCTCCCTCAACACACGGGAATTACAGAT	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1035		chr7	TogoVar
CALCB_chr11_15068593_15083637	15071566	T T	TAGAAATA others(312): Show TAGAAATACTCCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	416	0.0024	319	c.-21 others(330): Show c.-2107_-2106insAGAAATACTCCTGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA	CALCB	ENSG00000175868.14	transcript	ENST00000324229.11	protein_coding		2026		chr11	TogoVar
CALHM5_chr6_116506639_116529788	116522977	T T	TAAAATGT others(312): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00639.hp2 others(15): Show HG00140.hp1 HG00280.hp2 HG00639.hp2 HG01069.hp1 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG03942.hp2 NA18961.hp1 NA18970.hp1 NA18998.hp1 NA19007.hp2 NA19009.hp2 NA19078.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0032 others(1): Show a0001c0001t0004 a0001c0001t0028 a0001c0001t0032 a0001c0001t0115	a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0004g0017 others(3): Show a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0004g0017 a0001c0001t0028g0006 a0001c0001t0032g0006 a0001c0001t0115g0002	18	402	0.0448	319	c.70 others(330): Show c.7004_*7005insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAATGTGGATTGCTG	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2	7005	INFO_REALIGN_3_PRIME	chr6	TogoVar
CALN1_chr7_71774491_72417338	71973666	T T	TAAGAATT others(312): Show TAAGAATTTTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0129 a0001c0001t0048g0129	1	142	0.0070	319	c.501 others(338): Show c.501+49990_501+49991insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTAAAATTCTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(312): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0053 a0001c0002t0006g0107 a0001c0002t0001g0053 a0001c0002t0006g0107	2	198	0.0101	319	c.377 others(340): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(312): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG01243.hp1 others(36): Show HG00423.hp1 HG01081.hp1 HG01243.hp1 HG01258.hp1 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp1 HG02055.hp2 HG02280.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG03017.hp2 HG03098.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 NA18945.hp2 NA18957.hp2 NA18960.hp2 NA18974.hp1 NA18975.hp1 NA18984.hp1 NA18993.hp2 NA18999.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19074.hp1 NA19084.hp1 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0003	a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0050 others(36): Show a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0002g0082 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0181 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0004t0003g0063	39	198	0.1970	319	c.377 others(340): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(312): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCGCTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	198	0.0051	319	c.377 others(340): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCGCTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(312): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAGGGGAG TGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGGGCAGG GAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01192.hp2 others(14): Show HG00609.hp1 HG00673.hp1 HG01192.hp2 HG01515.hp2 HG01517.hp2 HG02004.hp1 HG02071.hp2 HG02074.hp2 HG02145.hp1 HG02155.hp2 HG02622.hp1 HG02630.hp1 NA18954.hp2 NA18955.hp2 NA18973.hp1 NA19058.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0001c0023 others(1): Show a0001c0001 a0001c0006 a0001c0023 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0006t0001 a0001c0023t0002 a0006c0016t0002	a0001c0001t0001g0114 a0001c0001t0001g0192 a0001c0001t0002g0206 others(14): Show a0001c0001t0001g0114 a0001c0001t0001g0192 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0219 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0022g0208 a0001c0006t0001g0067 a0001c0023t0002g0320 a0006c0016t0002g0223	17	340	0.0500	319	c.104 others(338): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN7_chr3_15201246_15257916	15252819	C C	CAAAAGAC others(312): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 NA19030.hp1 HG02257.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0001t0010g0047 a0001c0001t0010g0048	2	376	0.0053	319	c.15 others(330): Show c.1575_*1576insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAGACAGGTTACTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	1576	INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN7_chr3_15201246_15257916	15252819	C C	CAAAAGAC others(312): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02965.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG02965.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0009 a0001c0001t0014	a0001c0001t0009g0031 a0001c0001t0009g0226 a0001c0001t0014g0299 a0001c0001t0009g0031 a0001c0001t0009g0226 a0001c0001t0014g0299	4	376	0.0106	319	c.15 others(330): Show c.1575_*1576insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAGACAGGTTACTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	1576	INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN7_chr3_15201246_15257916	15252819	C C	CAAAAGAC others(312): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAAAT TAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0273 a0001c0001t0018g0273	1	376	0.0027	319	c.15 others(330): Show c.1575_*1576insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAAATT AGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAGACAGGTTACTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	1576	INFO_REALIGN_3_PRIME	chr3	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(312): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGGAGGGAGAGAGAGGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTA GGGAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0149 a0001c0041t0001g0149	1	276	0.0036	319	c.286 others(336): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCCTCTCTCTCCCTCCCCCCCCTCCTT CTCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCC CTCCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCT CTCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCC CCCCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTC CCCCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARMIL1_chr6_25274374_25625530	25459268	T T	TTCTTTCT others(312): Show TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	186	0.0054	319	c.615 others(336): Show c.615-6604_615-6603insCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASZ1_chr1_10631604_10801646	10783360	T T	TAAGAGTT others(312): Show TAAGAGTTCATTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0037 a0003c0028t0037	a0003c0028t0037g0068 a0003c0028t0037g0068	1	236	0.0042	319	c.-23 others(340): Show c.-234+13203_-234+13204insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGC CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGAATGAACTCTT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91649661	T T	TAAAAAAA others(312): Show TAAAAAAATTCCATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGAATCGCGAGGTCAGGAGATCGAGAGC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGAGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18939.hp1 NA18972.hp2 HG02280.hp1 NA18939.hp1 NA18972.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0109 a0001c0001t0001g0254 a0002c0003t0002g0151 a0001c0001t0001g0109 a0001c0001t0001g0254 a0002c0003t0002g0151	3	271	0.0111	319	c.143 others(340): Show c.1432+10175_1432+10176insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGCTC TCGATCTCCTGACCTCGCGATTCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCATGGAATTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CC2D2B_chr10_95902975_96038745	95908767	T T	TAAAAAAC others(312): Show TAAAAAACATTACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0022 a0022	a0022c0038 a0022c0038	a0022c0038t0001 a0022c0038t0001	a0022c0038t0001g0005 a0022c0038t0001g0005	1	312	0.0032	319	c.-24 others(334): Show c.-24+724_-24+725insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTACAG	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95908767	T T	TAAAAAAC others(312): Show TAAAAAACATTACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG01123.hp2 others(10): Show HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01169.hp1 HG01516.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG02148.hp1 HG02148.hp2 HG02572.hp2 HG02976.hp1 HG03486.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0011 a0027	a0001c0001 a0002c0002 a0002c0014 others(3): Show a0001c0001 a0002c0002 a0002c0014 a0007c0009 a0011c0032 a0027c0037	a0001c0001t0001 a0002c0002t0001 a0002c0014t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0014t0001 a0007c0009t0001 a0011c0032t0001 a0027c0037t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0014t0001g0014 a0007c0009t0001g0011 a0007c0009t0001g0018 a0007c0009t0001g0019 a0011c0032t0001g0017 a0027c0037t0001g0021	13	312	0.0417	319	c.-24 others(334): Show c.-24+724_-24+725insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTACAG	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC144A_chr17_16685241_16782881	16769811	T T	TGCATTTT others(312): Show TGCATTTTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18967.hp1 NA19000.hp2 others(3): Show HG03831.hp2 NA18967.hp1 NA19000.hp2 NA19012.hp2 NA19063.hp1 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0196 a0002c0002t0002g0201 others(3): Show a0002c0002t0002g0190 a0002c0002t0002g0196 a0002c0002t0002g0201 a0002c0002t0002g0217 a0002c0002t0002g0227 a0002c0002t0002g0232	6	318	0.0189	319	c.409 others(338): Show c.4099-2150_4099-2149insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACACCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCGCATTTTCTCTTTTTT	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC171_chr9_15548043_15979037	15831809	A A	ACAAAACT others(312): Show ACAAAACTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0003 a0010c0011t0003	a0010c0011t0003g0046 a0010c0011t0003g0046	1	266	0.0038	319	c.326 others(340): Show c.3268-14879_3268-14878insTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGACTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAACTGCCTTTT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCPG1_chr15_55350239_55413359	55379104	T T	TAAGAATA others(312): Show TAAGAATAAAAACCGTGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGG CTGAGGCAGGAGAATGGCGTGAACTCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGACGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp2 HG02572.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0326 a0001c0003t0003g0327 a0001c0003t0003g0326 a0001c0003t0003g0327	2	354	0.0057	319	c.176 others(334): Show c.176-729_176-728insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGAGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGCCACGGTTTTTATTCTT	CCPG1	ENSG00000260916.8	transcript	ENST00000442196.8	protein_coding	3/8			chr15	TogoVar
CD300A_chr17_74461634_74489794	74482693	C C	CTTCCTTC others(312): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCCT CCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCTTCTTCCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0126 a0002c0003t0003g0126	1	424	0.0024	319	c.774 others(334): Show c.774+860_774+861insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTC CCTCCCTCCCTCCCTCCCTCCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCTTCTTCCTTCTTTCTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6			chr17	TogoVar
CDA_chr1_20584097_20623903	20618244	G G	GCACTGTT others(312): Show GCACTGTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0297 a0001c0002t0002g0297	1	418	0.0024	319	c.325 others(334): Show c.325-194_325-193insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCACTGTTCAGTTTC	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH7_chr18_65746012_65895337	65820033	T T	TAAAAAAA others(312): Show TAAAAAAATCATCTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01081.hp2 others(19): Show HG00733.hp2 HG01070.hp2 HG01081.hp2 HG01257.hp2 HG01346.hp2 HG01516.hp1 HG01993.hp2 HG02145.hp1 HG02273.hp1 HG02300.hp1 HG02630.hp2 HG02809.hp1 HG03195.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG04184.hp2 NA19043.hp1 NA19065.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0013 a0002c0003 others(1): Show a0001c0009 a0001c0013 a0002c0003 a0002c0005	a0001c0009t0009 a0001c0013t0008 a0002c0003t0004 others(12): Show a0001c0009t0009 a0001c0013t0008 a0002c0003t0004 a0002c0003t0006 a0002c0003t0013 a0002c0003t0014 a0002c0003t0023 a0002c0003t0040 a0002c0003t0070 a0002c0003t0072 a0002c0005t0012 a0002c0005t0022 a0002c0005t0066 a0002c0005t0067 a0002c0005t0068	a0001c0009t0009g0120 a0001c0009t0009g0202 a0001c0013t0008g0116 others(19): Show a0001c0009t0009g0120 a0001c0009t0009g0202 a0001c0013t0008g0116 a0001c0013t0008g0155 a0002c0003t0004g0124 a0002c0003t0004g0135 a0002c0003t0004g0137 a0002c0003t0006g0140 a0002c0003t0006g0171 a0002c0003t0013g0005 a0002c0003t0013g0023 a0002c0003t0014g0006 a0002c0003t0023g0018 a0002c0003t0023g0043 a0002c0003t0040g0064 a0002c0003t0070g0127 a0002c0003t0072g0125 a0002c0005t0012g0052 a0002c0005t0022g0033 a0002c0005t0066g0196 a0002c0005t0067g0115 a0002c0005t0068g0098	22	208	0.1058	319	c.626 others(336): Show c.626-2030_626-2029insCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCATCTGAGGC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDK12_chr17_39456486_39539544	39498892	T T	TTCCTTCC others(312): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	260	0.0039	319	c.242 others(338): Show c.2420-2357_2420-2356insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK17_chr12_96273261_96405439	96311584	T T	TGTTAATG others(312): Show TGTTAATGGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03017.hp2 NA19056.hp1 HG02895.hp1 HG03017.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0209 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0209	3	346	0.0087	319	c.418 others(334): Show c.418-408_418-407insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCCATTAAC	CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding	4/16			chr12	TogoVar
CDK19_chr6_110604978_110820469	110786650	T T	TAGAAATG others(312): Show TAGAAATGTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	300	0.0033	319	c.128 others(338): Show c.128+28358_128+28359insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACACATTTCT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(312): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGT AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02622.hp1 HG03195.hp2 others(2): Show HG01192.hp1 HG02622.hp1 HG03195.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0008 a0001c0002t0041 a0001c0004t0001 others(1): Show a0001c0001t0008 a0001c0002t0041 a0001c0004t0001 a0001c0005t0006	a0001c0001t0008g0016 a0001c0002t0041g0012 a0001c0004t0001g0127 others(2): Show a0001c0001t0008g0016 a0001c0002t0041g0012 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0005t0006g0085	5	196	0.0255	319	c.742 others(338): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL2_chr16_80592907_80809598	80663084	T T	TAAAAAAA others(312): Show TAAAAAAATTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0135 a0001c0002t0006g0135	1	258	0.0039	319	c.616 others(338): Show c.616+21453_616+21454insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTTTTT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	2/6			chr16	TogoVar
CELF5_chr19_3219661_3302076	3287351	G G	GGAGTTCA others(312): Show GGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACTAAA AATTCAAAAAATTAGCTGAGCGTGGTGGTGTGTGCCTGTAATCCCAACTA CTGGGGAAGCTAAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGTTTG CAGTGAGTCAAGATGATGCCACTTCACTCCAGTGTGGGTGACAGAGCAAG ACTCTGTCTCAAAAAAAAATAATAAAAATAAAAATTAAAAAAATATGGTC AGGTGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGACTGAGGTG GGCAGATCACCTGAGGTCAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00597.hp1 others(77): Show HG00099.hp1 HG00099.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01934.hp2 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02145.hp2 HG02148.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18970.hp2 NA18971.hp1 NA18980.hp1 NA18994.hp1 NA18999.hp1 NA19030.hp2 NA19087.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0004 a0001c0005t0007 a0001c0006t0004 a0001c0007t0002 a0001c0010t0005	a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0001g0206 others(77): Show a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0001g0206 a0001c0001t0002g0011 a0001c0001t0002g0054 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0158 a0001c0001t0002g0174 a0001c0001t0002g0193 a0001c0001t0002g0251 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0194 a0001c0001t0003g0200 a0001c0001t0003g0219 a0001c0001t0003g0231 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0004g0085 a0001c0001t0004g0102 a0001c0001t0004g0109 a0001c0001t0004g0129 a0001c0001t0004g0153 a0001c0001t0004g0180 a0001c0001t0004g0189 a0001c0001t0004g0195 a0001c0001t0004g0207 a0001c0001t0004g0212 a0001c0001t0005g0007 a0001c0001t0005g0072 a0001c0001t0005g0087 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0005g0164 a0001c0001t0005g0208 a0001c0001t0005g0221 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0249 a0001c0001t0006g0015 a0001c0001t0006g0070 a0001c0001t0006g0091 a0001c0001t0006g0096 a0001c0002t0001g0032 a0001c0002t0002g0041 a0001c0002t0004g0031 a0001c0002t0004g0040 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0005g0093 a0001c0002t0010g0050 a0001c0003t0001g0059 a0001c0003t0002g0232 a0001c0003t0002g0248 a0001c0003t0003g0098 a0001c0003t0004g0128 a0001c0003t0004g0131 a0001c0003t0004g0134 a0001c0003t0004g0220 a0001c0003t0004g0237 a0001c0003t0004g0243 a0001c0003t0004g0261 a0001c0003t0005g0099 a0001c0003t0005g0151 a0001c0004t0004g0210 a0001c0004t0004g0227 a0001c0005t0007g0045 a0001c0006t0004g0137 a0001c0007t0002g0144 a0001c0010t0005g0252	80	262	0.3053	319	c.118 others(338): Show c.1186+1354_1186+1355insCGAAACCCTTTCTCTACTAAAAATTC AAAAAATTAGCTGAGCGTGGTGGTGTGTGCCTGTAATCCCAACTACTGGG GAAGCTAAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGTTTGCAGTG AGTCAAGATGATGCCACTTCACTCCAGTGTGGGTGACAGAGCAAGACTCT GTCTCAAAAAAAAATAATAAAAATAAAAATTAAAAAAATATGGTCAGGTG CAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGACTGAGGTGGGCAG ATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGG	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr19	TogoVar

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