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
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(313): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00673.hp1 others(11): Show HG00423.hp1 HG00558.hp1 HG00673.hp1 NA18940.hp2 NA18945.hp1 NA18969.hp2 NA18973.hp2 NA18983.hp2 NA18993.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19080.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0002 a0001c0003 a0001c0004 a0002c0002	a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0002c0002t0002	a0001c0003t0001g0070 a0001c0003t0001g0134 a0001c0003t0001g0135 others(11): Show a0001c0003t0001g0070 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0138 a0001c0003t0001g0331 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0338 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0004g0092 a0002c0002t0002g0064	14	360	0.0389	320	c.92- others(337): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(313): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCTGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0114	1	360	0.0028	320	c.92- others(337): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCTGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423716	G G	GTTCCGGG others(313): Show GTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGC CTCCCCCGCTGCGGCGTGGCGTCGCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGGCCTCC CCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG TGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCG CTGGGCGTTCCGGGTGCCCCAGGCCTCCCCGCTGGGCGTTCCGGGTGCCC CAGGCCTCCCCCGCTGGGCGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0146	1	360	0.0028	320	c.92- others(337): Show c.92-12264_92-12263insCGGCGTGGCGTCGCCCAGGCCTCCCCCG CTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCC CCAGGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCGCTGGGCGT TCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423826	A A	AGGCCTCC others(313): Show AGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGC GTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGC CTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTC CGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCC CCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG TGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCG CTGGGCGTTCCGGGTGCCCCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	360	0.0028	320	c.92- others(337): Show c.92-12200_92-12199insGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCGGGCCTCCCCCGCTG	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(313): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00673.hp2 others(4): Show HG00423.hp1 HG00621.hp2 HG00673.hp2 HG02698.hp1 HG03491.hp1 NA18982.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0002 a0001c0001t0045 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0045 a0001c0002t0003 a0001c0002t0024 a0001c0002t0043 a0001c0013t0035	a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0045g0012 others(4): Show a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0045g0012 a0001c0002t0003g0008 a0001c0002t0024g0220 a0001c0002t0043g0241 a0001c0013t0035g0233	7	416	0.0168	320	c.-42 others(331): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C11orf54_chr11_93736672_93769749	93744957	T T	TAAAGAAA others(313): Show TAAAGAAATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCG CCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19086.hp2 NA18959.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0217 a0001c0001t0007g0218	2	364	0.0055	320	c.-97 others(337): Show c.-97-2329_-97-2328insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC TGAGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATCTG	C11orf54	ENSG00000182919.15	transcript	ENST00000354421.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(313): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGGCGCTGTGGCGGCGGCGG CGGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGC GGTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGC GGGGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	320	c.-44 others(331): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCC CGGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(313): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGG CGGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGC GGTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGC GGGGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 NA18985.hp1 HG04184.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0002 a0001c0001t0001g0022	2	394	0.0051	320	c.-44 others(331): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCC CGGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C1orf159_chr1_1076823_1121089	1080820	G G	GGTCCCTG others(313): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	326	0.0031	320	c.20 others(331): Show c.2072_*2073insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1002		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080907	C C	CCCCATCT others(313): Show CCCCATCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGT CTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCC ACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCC TTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCT CGGTCCCTGTCTCCTTCCCTCCGCCCCCATCTCTGTCCCTGTCTCCTTCC CTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGT CCCTGTCTCCTTCCCTCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02559.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0052 a0001c0001t0009g0231 a0001c0001t0009g0052 a0001c0001t0009g0231	2	326	0.0061	320	c.19 others(331): Show c.1985_*1986insAGCAGAGGGAAGGAGACAGGGACCGAGGTGGGGG CGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGG GACAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGA GGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACC GAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGA AGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGG TGGGGGCGGAGGGAAGGAGACAGGGACCGAGATGGG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		915		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080912	C C	CCTCGGTC others(313): Show CCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCT TCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTC GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCATCTCTGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCTGCTCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0229 a0001c0001t0009g0229	1	326	0.0031	320	c.19 others(331): Show c.1980_*1981insATGGGAGCAGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC CGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		910		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(313): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01081.hp1 others(9): Show HG00609.hp1 HG00673.hp1 HG01081.hp1 HG01099.hp2 HG02071.hp1 HG02273.hp2 HG02922.hp2 NA18747.hp1 NA18943.hp1 NA18990.hp2 NA19012.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0058 a0001c0001t0001g0108 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0219 a0001c0001t0001g0252 a0001c0001t0001g0303	12	326	0.0368	320	c.19 others(331): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(313): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCATCTCTGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18970.hp2 NA18986.hp1 NA18940.hp2 NA18970.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0018g0134 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0018g0134	3	326	0.0092	320	c.19 others(331): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C20orf96_chr20_265863_295750	278962	G G	GGGAGGGA others(313): Show GGGAGGGAGGGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGCGG GAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGA GGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGG GAGGGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGA CGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGG GACGGAGGGCGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGA CGGAGGGAGGAAGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG04204.hp1 HG01257.hp1 HG01258.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0296 a0001c0003t0001g0304 a0001c0003t0001g0327 a0001c0003t0001g0296 a0001c0003t0001g0304 a0001c0003t0001g0327	3	410	0.0073	320	c.465 others(335): Show c.465+209_465+210insGTCCCGCCCTTCCTCCCTCCGTCCCTCCCT CCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCC CTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCG CCCTCCCTCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCC CTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGT CCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCGCCCTCC CTCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	411129	C C	CCGAGCTG others(313): Show CCGAGCTGGGAGGAGGGTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGAA CGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGCCCGAGCTGGGAGGAGGGTCCTGGGGGT CTGTCCACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGG ATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCT GTCCACCGCCCCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0088 a0001c0001t0107g0088	1	322	0.0031	320	c.-21 others(331): Show c.-2165_-2164insTGCCCAGCAGGGGCGGTGGACAGACCCCAAGGAT CCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG AGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTTCCCAGCAGGGGCGGTGGACAGACCCCCAGGACCC TCCTCCCAGCTCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG TGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTTCCCAGCAGGGG CGGTGGACAGACCCCCAGGACCCTCCTCCCAGCTCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1983		chr19	TogoVar
C4orf19_chr4_37448925_37598510	37585445	G G	GAGGAGGG others(313): Show GAGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTG TTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGGAGA GGAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAGGG AGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGA GGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGA GGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGG AGATCAGAGGTGTTGAGGGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0329 a0001c0001t0005g0329	1	354	0.0028	320	c.-22 others(337): Show c.-22-3401_-22-3400insAGGAGGGGAGAGGAAAGGTGTTGAGGGA AGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTG TTGAGGGAAGGGAGGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGA TCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGG AGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGA GGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGA GGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3			chr4	TogoVar
C7orf50_chr7_992006_1143247	1128923	C C	CGTCACCC others(313): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCTCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCTCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCAATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0113 a0001c0001t0016g0113	1	326	0.0031	320	c.-1- others(335): Show c.-1-1538_-1-1537insTGGGATGAGCCGAGATGGCGCCACTGCACT CCAGCCCGGGTGACGGTGAGATGAGCCGAGATTGCGCCACTGCACTCCAG CCCGGGTGACGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCG GGTGACGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTG ACGGTGGGATGAGCCGAGATCGCGCCACTGCACTCCAGCCCGGGTGACGG TGAGATGAGCCGAGATCGCGCCACTGCACTCCAGCCCGGGTGACGGTGAG ATGAGCCGAGATCGCGCCACTGCACTCCAGCCCGGGTGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CADM1_chr11_115164236_115509415	115212122	T T	TAAGAAAG others(313): Show TAAGAAAGTACAGAGTTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAG TCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp1 HG01255.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0114 a0001c0001t0020g0115 a0001c0001t0020g0114 a0001c0001t0020g0115	2	164	0.0122	320	c.995 others(337): Show c.995-2466_995-2465insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGAACTCTGTACTTTCTT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	7/11			chr11	TogoVar
CADPS2_chr7_122313411_122891460	122469786	T T	TAAAATAT others(313): Show TAAAATATGATCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0086 a0001c0002t0007g0086	1	126	0.0079	320	c.218 others(339): Show c.2186+1588_2186+1589insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATCATATTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	14/29			chr7	TogoVar
CALHM5_chr6_116506639_116529788	116522977	T T	TAAAATGT others(313): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG02071.hp2 NA18962.hp1 others(3): Show HG01175.hp2 HG02071.hp2 NA18962.hp1 NA18997.hp1 NA19012.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0119 a0001c0001t0152 a0001c0001t0017 a0001c0001t0119 a0001c0001t0152	a0001c0001t0017g0002 a0001c0001t0017g0006 a0001c0001t0119g0002 others(1): Show a0001c0001t0017g0002 a0001c0001t0017g0006 a0001c0001t0119g0002 a0001c0001t0152g0002	6	402	0.0149	320	c.70 others(331): Show c.7004_*7005insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAATGTGGATTGCTG	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2	7005	INFO_REALIGN_3_PRIME	chr6	TogoVar
CAMK2D_chr4_113446032_113766738	113501291	A A	AGATACAT others(313): Show AGATACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCAGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00597.hp1 others(16): Show HG00408.hp1 HG00544.hp1 HG00597.hp1 HG01074.hp2 HG01975.hp1 HG02155.hp2 HG02165.hp1 NA18612.hp1 NA18747.hp2 NA18977.hp1 NA18983.hp2 NA18999.hp2 NA19006.hp1 NA19011.hp2 NA19012.hp2 NA19066.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0030 a0001c0001t0043 a0001c0001t0058 a0001c0001t0070	a0001c0001t0001g0068 a0001c0001t0001g0131 a0001c0001t0001g0140 others(16): Show a0001c0001t0001g0068 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0006g0241 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0265 a0001c0001t0006g0274 a0001c0001t0013g0070 a0001c0001t0013g0092 a0001c0001t0013g0104 a0001c0001t0013g0105 a0001c0001t0013g0142 a0001c0001t0030g0220 a0001c0001t0043g0019 a0001c0001t0058g0132 a0001c0001t0070g0209	19	278	0.0684	320	c.108 others(337): Show c.1087-781_1087-780insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCTGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGTATC	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	15/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113501291	A A	AGATACAT others(313): Show AGATACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCAGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0270 a0001c0001t0066g0270	1	278	0.0036	320	c.108 others(337): Show c.1087-781_1087-780insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCTGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTATC	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	15/20			chr4	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(313): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	198	0.0051	320	c.377 others(341): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	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(313): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00621.hp1 others(8): Show HG00280.hp1 HG00438.hp2 HG00621.hp1 HG00741.hp2 HG01934.hp2 HG02486.hp2 HG02698.hp2 HG02886.hp1 HG03130.hp2 NA18612.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0054 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0111 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0002g0006 a0001c0001t0002g0078 a0001c0001t0002g0173	11	198	0.0556	320	c.377 others(341): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	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(313): Show GGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAGGGGA GTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGGGCAG GGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	340	0.0029	320	c.104 others(339): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(313): Show ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGT CGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0277 a0001c0006t0003g0277	1	410	0.0024	320	c.-22 others(337): Show c.-22-2109_-22-2108insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCTCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(313): Show TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	410	0.0024	320	c.-22 others(337): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGCCTCCCCCACGTCG TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN2_chr1_223707539_223781018	223723855	C C	CAAGAATC others(313): Show CAAGAATCCCCCATTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGACGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAGGAAGTGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0125 a0003c0011t0002g0125	1	378	0.0027	320	c.307 others(337): Show c.307+6041_307+6042insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGACGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGTGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAGAATCCCCCATTTCC	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(313): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGGAGAGAGACTGGGGGGGAGGGG GGGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTT GAGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGG AGGGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAG GGGGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGGAGAGAAGGGGT AGGGAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0207 a0001c0010t0001g0207	1	276	0.0036	320	c.286 others(337): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTC TCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCC CTCCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCT CTCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCC CCCCCAGTCTCTCTCCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCT CCCCCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CASZ1_chr1_10631604_10801646	10783360	T T	TAAGAGTT others(313): Show TAAGAGTTCATTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0016 a0003c0007t0016	a0003c0007t0016g0067 a0003c0007t0016g0067	1	236	0.0042	320	c.-23 others(341): Show c.-234+13203_-234+13204insTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG CCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGAATGAACTCTT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91649661	T T	TAAAAAAA others(313): Show TAAAAAAATTCCATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGAATCGCGAGGTCAGGAGATCGAGAGC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGAGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	271	0.0037	320	c.143 others(341): Show c.1432+10175_1432+10176insTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGCT CTCGATCTCCTGACCTCGCGATTCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTCATGGAATTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91649661	T T	TAAAAAAA others(313): Show TAAAAAAATTCCATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGAATCGCGAGGTCAGGAGATCGAGAGC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGAGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02080.hp1 HG02083.hp2 others(11): Show HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG03017.hp2 HG03195.hp1 HG03490.hp2 HG03492.hp1 HG06807.hp2 NA18950.hp1 NA19012.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 others(11): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0172 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0242 a0001c0002t0001g0255 a0001c0002t0002g0067 a0001c0002t0002g0120 a0002c0003t0001g0144 a0002c0003t0001g0148 a0002c0003t0001g0149	14	271	0.0517	320	c.143 others(341): Show c.1432+10175_1432+10176insTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGCT CTCGATCTCCTGACCTCGCGATTCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTCATGGAATTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CBFA2T3_chr16_88869858_88982207	88967154	A A	ACCATGCC others(313): Show ACCATGCCACCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGACACGAGGC AGCGCCATGCCACCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGACACGA GGCAGCGCCATGCCACCCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGAC ACGAGGCAGCGCCATGCCACCCCCCAGCCCCCGAGGTGCCACTCGGCCCC GACACGAGGCAGCGCCATGCCACCCCCCAGCCCCCGAGGTGCCACTCGGC CCCGACACGAGGCAGCGCCATGCCACCCCCCCAGCCCCCGAGGTGCCACT CGGCCCCGACACGAGGCAGCG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	284	0.0035	320	c.151 others(337): Show c.151+9502_151+9503insCGCTGCCTCGTGTCGGGGCCGAGTGGCA CCTCGGGGGCTGGGGGGGTGGCATGGCGCTGCCTCGTGTCGGGGCCGAGT GGCACCTCGGGGGCTGGGGGGTGGCATGGCGCTGCCTCGTGTCGGGGCCG AGTGGCACCTCGGGGGCTGGGGGGTGGCATGGCGCTGCCTCGTGTCGGGG CCGAGTGGCACCTCGGGGGCTGGGGGGGTGGCATGGCGCTGCCTCGTGTC GGGGCCGAGTGGCACCTCGGGGGCTGGGGGGTGGCATGGCGCTGCCTCGT GTCGGGGCCGAGTGGCACCTCGGGGGCTGGGGGGTGGCATGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CC2D2B_chr10_95902975_96038745	95908767	T T	TAAAAAAC others(313): Show TAAAAAACATTACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01361.hp1 HG04115.hp1 HG00609.hp1 HG01361.hp1 HG04115.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0009 a0001c0001 a0003c0003 a0007c0009	a0001c0001t0001 a0003c0003t0002 a0007c0009t0001 a0001c0001t0001 a0003c0003t0002 a0007c0009t0001	a0001c0001t0001g0006 a0003c0003t0002g0008 a0007c0009t0001g0007 a0001c0001t0001g0006 a0003c0003t0002g0008 a0007c0009t0001g0007	3	312	0.0096	320	c.-24 others(335): Show c.-24+724_-24+725insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTACAG	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC171_chr9_15548043_15979037	15831809	A A	ACAAAACT others(313): Show ACAAAACTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02602.hp2 HG02683.hp2 others(6): Show HG00438.hp1 HG02602.hp2 HG02683.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 NA19009.hp2 NA19058.hp2	a0004 a0012 a0004 a0012	a0004c0004 a0012c0027 a0004c0004 a0012c0027	a0004c0004t0001 a0004c0004t0003 a0012c0027t0003 a0004c0004t0001 a0004c0004t0003 a0012c0027t0003	a0004c0004t0001g0037 a0004c0004t0003g0006 a0004c0004t0003g0026 others(6): Show a0004c0004t0001g0037 a0004c0004t0003g0006 a0004c0004t0003g0026 a0004c0004t0003g0030 a0004c0004t0003g0036 a0004c0004t0003g0041 a0004c0004t0003g0048 a0004c0004t0003g0050 a0012c0027t0003g0029	9	266	0.0338	320	c.326 others(341): Show c.3268-14879_3268-14878insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGACT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAACTGCCTTTT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC180_chr9_97302659_97383751	97362666	T T	TAGAAAGA others(313): Show TAGAAAGACGGGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02723.hp1 others(5): Show HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03516.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0007 a0006c0007t0007	a0006c0007t0007g0008 a0006c0007t0007g0020 a0006c0007t0007g0021 others(1): Show a0006c0007t0007g0008 a0006c0007t0007g0020 a0006c0007t0007g0021 a0006c0007t0007g0175	8	364	0.0220	320	c.390 others(337): Show c.3902+240_3902+241insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGACGGGGCAG	CCDC180	ENSG00000197816.16	transcript	ENST00000529487.3	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC30_chr1_42458286_42662190	42482568	T T	TAATTTAT others(313): Show TAATTTATTGGCTTTTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTGTTT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0049 a0003c0012t0049	a0003c0012t0049g0061 a0003c0012t0049g0061	1	324	0.0031	320	c.16- others(331): Show c.16-80_16-79insTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTGTTT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAATTTATTGGCTTTT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	AAATATAT others(313): Show AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT ATTATATAAAATATATATTATATATAATATATATTATATAAAATATATAT TATATTATATATAATATATATTATATTATATATAATATATATTATATAAT ATATATTATATAAAATATATATTATATTATATATAATATATATTTTATAA AATATATATTATATTATATTATATATATTTTATAAAATATATATTATATT ATATATAATATATATTTTATAAAATATATATTATATTATATAATATATAT TATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0252 a0004c0007t0002g0252	1	288	0.0035	320	c.154 others(339): Show c.1546+1126_1546+1127insAATATATATTATATTATATATAATAT ATATTATATAAAATATATATTATATTATATAAAATATATATTATATATAA TATATATTATATAAAATATATATTATATTATATATAATATATATTATATT ATATATAATATATATTATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTTTATAAAATATATATTATATTATATTATATATA TTTTATAAAATATATATTATATTATATATAATATATATTTTATAAAATAT ATATTATATTATATAATATATATTATATAAAATATATATTATAT	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11			chr12	TogoVar
CCDC6_chr10_59783747_59911556	59868919	G G	GCACCTCT others(313): Show GCACCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp2 HG00735.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0031 a0001c0001t0006g0027 a0001c0001t0002g0031 a0001c0001t0006g0027	2	288	0.0069	320	c.304 others(339): Show c.304-16218_304-16217insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGGTG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC91_chr12_28185456_28555166	28387337	T T	TTTAGCTC others(313): Show TTTAGCTCCACTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCAGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0204 a0008c0010t0001g0204	1	242	0.0041	320	c.655 others(337): Show c.655-3953_655-3952insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCAGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTTAGCTCCACTCTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCPG1_chr15_55350239_55413359	55379104	T T	TAAGAATA others(313): Show TAAGAATAAAAACCGTGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGGTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGG CTGAGGCAGGAGAATGGCGTGAACTCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGACGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02615.hp2 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0003t0002g0318 a0001c0003t0002g0319	2	354	0.0057	320	c.176 others(335): Show c.176-729_176-728insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGAGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGCCACGGTTTTTATTCTT	CCPG1	ENSG00000260916.8	transcript	ENST00000442196.8	protein_coding	3/8			chr15	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAATATA others(313): Show AAAATATATATATATATATATATATATATATATATATATATACACTCATA TATATATATATATATACTCATATATATATATACTCATATATATATATATA TACTCATATATATATATACTCATATATATATATATACTCATATATATATA TATACTCATATATATATATATACTCATATATATATATACTCATATATATA TATACTCATATATATATATATATACTCATATATATATATATATACTCATA TATATATATATACACTCATATATATATATATATATATATACTCATATATA TATATATATATATATACTCAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0010 a0012c0019t0010	a0012c0019t0010g0140 a0012c0019t0010g0140	1	370	0.0027	320	c.232 others(341): Show c.2326-11614_2326-11613insAATATATATATATATATATATATA TATATATATATATATACACTCATATATATATATATATATACTCATATATA TATATACTCATATATATATATATATACTCATATATATATATACTCATATA TATATATATACTCATATATATATATATACTCATATATATATATATACTCA TATATATATATACTCATATATATATATACTCATATATATATATATATACT CATATATATATATATATACTCATATATATATATATACACTCATATATATA TATATATATATATACTCATATATATATATATATATATATACTCATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(313): Show TTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTCCTCCGGAGCCCTCCTCCAGCCCTTC CTCCAGCCGTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCC TCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCC TCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCT CCAGCCCTTCCTCCGGAGCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02630.hp1 others(6): Show HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02647.hp1 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0345 a0001c0003t0001g0046 a0001c0003t0001g0077 others(6): Show a0001c0001t0001g0345 a0001c0003t0001g0046 a0001c0003t0001g0077 a0001c0003t0001g0087 a0001c0003t0001g0111 a0001c0003t0001g0116 a0001c0003t0001g0359 a0001c0003t0001g0365 a0001c0003t0001g0367	9	374	0.0241	320	c.336 others(335): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAACGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGG AGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGA GGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(313): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCTTTCTTCCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCT TCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0221 a0002c0003t0003g0221	1	424	0.0024	320	c.774 others(335): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTCCTTCCTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(313): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	424	0.0024	320	c.774 others(335): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATACACA others(313): Show TATACACACACGTGTGTATATACGTATACACACACGTGTGTATATACGTA TACACACACGTGTGTATATACGTATACACACACGTGTGTATATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0104 a0001c0001t0010g0104	1	442	0.0023	320	c.27 others(331): Show c.2768_*2769insATACACACACGTGTGTATATACGTATACACACAC GTGTGTATATACGTATACACACACGTGTGTATATACGTATACACACACGT GTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDA_chr1_20584097_20623903	20618244	G G	GCACTGTT others(313): Show GCACTGTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00673.hp1 others(41): Show HG00099.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG02056.hp1 HG02109.hp1 HG02135.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03540.hp2 HG03688.hp2 HG03831.hp1 HG06807.hp1 NA18942.hp1 NA18949.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18999.hp2 NA19082.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0002c0003t0002	a0001c0002t0002g0039 a0001c0002t0002g0080 a0001c0002t0002g0087 others(39): Show a0001c0002t0002g0039 a0001c0002t0002g0080 a0001c0002t0002g0087 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0113 a0001c0002t0002g0153 a0001c0002t0002g0263 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0004g0029 a0001c0002t0004g0154 a0001c0002t0004g0162 a0001c0002t0004g0164 a0001c0002t0004g0200 a0001c0002t0004g0201 a0001c0002t0004g0203 a0001c0002t0004g0239 a0001c0002t0006g0272 a0002c0003t0002g0305 a0002c0003t0002g0312	44	418	0.1053	320	c.325 others(335): Show c.325-194_325-193insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCACTGTTCAGTTTC	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH4_chr20_61247261_61945617	61383581	T T	TATATATC others(313): Show TATATATCACATATATGAACATATATAAGAATATATATCACATATATGAA CATATATAAGAATATATATCACATATATGAACATATATAAGAATATATAT CACATATATGAACATATATATGAATATATATCACATATATGAACATATAT ATGAATATATATCACATATATGAACATATATATGAATATATATCACATAT ATGAACATATATATGAATATATATCACATATATGAACATATATCACATAT ATGAATATATGATATATATAGAATATGTATCACATATATGAATATATGAT ATATATATGAATATGTATCAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0081 a0001c0003t0043g0081	1	106	0.0094	320	c.169 others(341): Show c.169+128650_169+128651insCACATATATGAACATATATAAGAA TATATATCACATATATGAACATATATAAGAATATATATCACATATATGAA CATATATAAGAATATATATCACATATATGAACATATATATGAATATATAT CACATATATGAACATATATATGAATATATATCACATATATGAACATATAT ATGAATATATATCACATATATGAACATATATATGAATATATATCACATAT ATGAACATATATCACATATATGAATATATGATATATATAGAATATGTATC ACATATATGAATATATGATATATATATGAATATGTATCACATATAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65820033	T T	TAAAAAAA others(313): Show TAAAAAAATCATCTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00738.hp2 others(14): Show HG00280.hp1 HG00323.hp1 HG00738.hp2 HG01074.hp1 HG01175.hp2 HG01258.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02055.hp2 NA18522.hp2 NA18965.hp1 NA19002.hp1 NA19030.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0009 a0002c0003 others(2): Show a0001c0006 a0001c0009 a0002c0003 a0002c0005 a0003c0022	a0001c0006t0031 a0001c0009t0038 a0001c0009t0086 others(8): Show a0001c0006t0031 a0001c0009t0038 a0001c0009t0086 a0002c0003t0004 a0002c0003t0006 a0002c0003t0039 a0002c0003t0071 a0002c0005t0012 a0002c0005t0021 a0002c0005t0022 a0003c0022t0012	a0001c0006t0031g0074 a0001c0009t0038g0057 a0001c0009t0086g0119 others(14): Show a0001c0006t0031g0074 a0001c0009t0038g0057 a0001c0009t0086g0119 a0002c0003t0004g0126 a0002c0003t0004g0128 a0002c0003t0004g0131 a0002c0003t0004g0136 a0002c0003t0004g0138 a0002c0003t0006g0129 a0002c0003t0006g0139 a0002c0003t0006g0141 a0002c0003t0039g0040 a0002c0003t0071g0204 a0002c0005t0012g0088 a0002c0005t0021g0086 a0002c0005t0022g0053 a0003c0022t0012g0070	17	208	0.0817	320	c.626 others(337): Show c.626-2030_626-2029insCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCATCTGAGGC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDK17_chr12_96273261_96405439	96311584	T T	TGTTAATG others(313): Show TGTTAATGGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00621.hp2 others(118): Show HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18975.hp1 NA18977.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19077.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0014g0003 a0001c0001t0015g0103 a0001c0001t0019g0250 a0001c0001t0020g0291	121	346	0.3497	320	c.418 others(335): Show c.418-408_418-407insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCCATTAAC	CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding	4/16			chr12	TogoVar

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