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
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(281): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTG CTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCT GTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGT TGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18952.hp2 NA18954.hp2 others(2): Show HG02698.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0001c0001t0001 a0001c0001t0004 a0002c0002t0002	a0001c0001t0001g0051 a0001c0001t0001g0083 a0001c0001t0004g0041 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0083 a0001c0001t0004g0041 a0002c0002t0002g0172 a0002c0002t0002g0297	5	64	0.0781	288	c.131 others(303): Show c.131-939_131-938insGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGC TGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTG TTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTT GCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGC GTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BIRC7_chr20_63230905_63245495	63234223	G G	GGAGGGGG others(281): Show GGAGGGGGCGAAGGTGTGGTGGACGCTGGAGGACAGAGAGGGGGCAAAGG CGAGGTGGGCGCTGGAGGACAGAGAGGGGGCGAAGGCGAGGTGGGCGCTG GAGGACAGAGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGACAGAGAGGG GGCGAAGGCGAGGTGGGCGCTGGAGGACAGAGAGGGGGCGAAGGCGAGGT GGGCGCTGGAGGACAGAGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGAC AGAGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGACAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	297	0.0034	288	c.-18 others(299): Show c.-1874_-1873insGAGGGGGCGAAGGTGTGGTGGACGCTGGAGGACA GAGAGGGGGCAAAGGCGAGGTGGGCGCTGGAGGACAGAGAGGGGGCGAAG GCGAGGTGGGCGCTGGAGGACAGAGAGGGGGCGAAGGCGAGGTGGGCGCT GGAGGACAGAGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGACAGAGAGG GGGCGAAGGCGAGGTGGGCGCTGGAGGACAGAGAGGGGGCGAAGGCGAGG TGGGCGCTGGAGGACAGAGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGA CAGA	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		1681		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63234281	G G	GCGCTGGA others(281): Show GCGCTGGAGGACAGGGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGACAG AGAGGGGGCAAAGGTGTGGTGGACGCTGGAGGACAGAGAGGGGGCGAAGG CGAGGTGGGCGCTGGAGGACAGGGAGGGGGCGAAGGCGAGGTGGACGCTG GAGGACAGAGAGGGGGCAAAGGTGTGGTGGACGCTGGAGGACAGAGAGGG GGCGAAGGCGAGGTGGGCGCTGGAGGACAGGGAGGGGGCGAAGGCGAGGT GGACGCTGGAGGACAGAGAGGGGGCAAAGGTGTGGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	298	0.0034	288	c.-18 others(299): Show c.-1816_-1815insCGCTGGAGGACAGGGAGGGGGCGAAGGCGAGGTG GGCGCTGGAGGACAGAGAGGGGGCAAAGGTGTGGTGGACGCTGGAGGACA GAGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGACAGGGAGGGGGCGAAG GCGAGGTGGACGCTGGAGGACAGAGAGGGGGCAAAGGTGTGGTGGACGCT GGAGGACAGAGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGACAGGGAGG GGGCGAAGGCGAGGTGGACGCTGGAGGACAGAGAGGGGGCAAAGGTGTGG TGGA	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		1623		chr20	TogoVar
BRSK2_chr11_1384934_1467689	1396185	T T	TCTCTTCC others(281): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCAC TCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTT CCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACG TCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGG TCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	111	0.0090	288	c.91+ others(303): Show c.91+5928_91+5929insCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCAC GTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTG GTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT CCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCC CACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCT CTTCCCTT	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(281): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02922.hp1 HG03195.hp1 others(1): Show HG01433.hp1 HG02922.hp1 HG03195.hp1 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0014 a0001c0003 a0001c0004 a0001c0014	a0001c0003t0014 a0001c0004t0001 a0001c0014t0001 a0001c0003t0014 a0001c0004t0001 a0001c0014t0001	a0001c0003t0014g0038 a0001c0003t0014g0040 a0001c0004t0001g0078 others(1): Show a0001c0003t0014g0038 a0001c0003t0014g0040 a0001c0004t0001g0078 a0001c0014t0001g0312	4	291	0.0137	288	c.92- others(305): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCA	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(281): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	288	0.0035	288	c.92- others(305): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432194	C C	CGGTCTGG others(281): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG03654.hp1 HG00741.hp1 HG01081.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0002 a0001c0001t0021 a0002c0002t0002	a0001c0001t0021g0205 a0001c0001t0021g0225 a0002c0002t0002g0175 a0001c0001t0021g0205 a0001c0001t0021g0225 a0002c0002t0002g0175	3	345	0.0087	288	c.92- others(303): Show c.92-3797_92-3796insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1orf159_chr1_1076823_1121089	1080649	A A	ACCCCCAC others(281): Show ACCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCT GTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCC CCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCT CCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCAC CTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTT CCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	163	0.0061	288	c.22 others(299): Show c.2243_*2244insCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCG GAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGA CCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGG GAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGA GGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAG GAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTG GGGG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1173		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(281): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG01106.hp2 others(14): Show HG00597.hp2 HG01074.hp1 HG01106.hp2 HG01175.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01934.hp1 HG02015.hp2 HG02056.hp2 HG02293.hp1 HG03017.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18966.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0289 a0001c0001t0013g0028	17	223	0.0762	288	c.19 others(299): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C20orf204_chr20_64031182_64044001	64042917	G G	GGGGGTCG others(281): Show GGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGT GGGAGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGACGG GACGGGGGTTGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGT CGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGG ACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGCGG GGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	288	c.41 others(299): Show c.4158_*4159insGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGA CGGGACGGGGGTCGTGGGAGACGGGACGGGGGTCGTGGGGGACGGGGCGG GGTCGTGGGGGACGGGACGGGGGTTGTGGGGGACGGGACGGGGGTCGTGG GGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGA CGGGGGTCGTGGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCG TGGGGGACGGGGCGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACG GGGC	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3917		chr20	TogoVar
C20orf96_chr20_265863_295750	279062	G G	GGGAGGGC others(281): Show GGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAAGGAG GGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGG AGGGAGGGCGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGG AGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGG GAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	303	0.0033	288	c.465 others(303): Show c.465+109_465+110insATCCCTCCCGCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCC GCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTC CGTCCCGCCCTCCTTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCC CGCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279137	A A	AGGGAGGG others(281): Show AGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCG GGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGG ACGGAGGGCGGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGAC GGAGGGCGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGG AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGACGGAGGGCGGGAGGGCG GGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	338	0.0030	288	c.465 others(301): Show c.465+34_465+35insGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCC TCCGTCCCGCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCC GCCCTCCGTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCCGC CCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCCC TCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTC CCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CABLES1_chr18_23130485_23265470	23218564	C C	CCTCCCGC others(281): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0030 a0001c0014t0030	a0001c0014t0030g0079 a0001c0014t0030g0079	1	233	0.0043	288	c.108 others(307): Show c.1088+4533_1088+4534insGCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCC TCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1H_chr16_1148106_1226768	1186011	T T	TAGGGGCC others(281): Show TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGG GGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTTGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp1 HG02258.hp1 HG02976.hp1	a0002 a0047 a0002 a0047	a0002c0002 a0047c0069 a0002c0002 a0047c0069	a0002c0002t0001 a0047c0069t0003 a0002c0002t0001 a0047c0069t0003	a0002c0002t0001g0016 a0047c0069t0003g0048 a0002c0002t0001g0016 a0047c0069t0003g0048	2	335	0.0060	288	c.300 others(305): Show c.300-8961_300-8960insAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAG TAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGG TGAGTAGACGGTTGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39601970	A A	ACTCCTCC others(281): Show ACTCCTCCTCCTCTTCCTTCCCTTCCTTCCTTCCTTCCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTTCCTTCCTTCCTCCTTC CTTCCTTCTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTC CTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0205 a0001c0002t0002g0205	1	137	0.0073	288	c.482 others(305): Show c.482+1318_482+1319insTCCTCCTCCTCTTCCTTCCCTTCCTTCC TTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCTCCCTCCCTTCCT CCTTCCTTCCTTCCTCCTTCCTTCCTTCTCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTCCCT CCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTC CCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCC TCTCTCCCTC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(281): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTC TCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG00323.hp2 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0180 a0001c0002t0004g0190 a0001c0002t0003g0180 a0001c0002t0004g0190	2	23	0.0870	288	c.482 others(305): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCC TCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(281): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTC TCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0229 a0001c0002t0003g0229	1	22	0.0455	288	c.482 others(305): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCC TCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(281): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTC TCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01346.hp1 HG01515.hp2 others(10): Show HG00099.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0018 others(2): Show a0001c0001 a0001c0002 a0001c0018 a0001c0046 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0048 a0001c0002t0002 a0001c0002t0011 a0001c0018t0002 a0001c0046t0003 a0002c0003t0001	a0001c0001t0002g0123 a0001c0001t0003g0041 a0001c0001t0003g0122 others(10): Show a0001c0001t0002g0123 a0001c0001t0003g0041 a0001c0001t0003g0122 a0001c0001t0003g0160 a0001c0001t0021g0039 a0001c0001t0021g0040 a0001c0001t0048g0128 a0001c0002t0002g0179 a0001c0002t0011g0069 a0001c0018t0002g0157 a0001c0018t0002g0158 a0001c0046t0003g0185 a0002c0003t0001g0159	13	34	0.3824	288	c.482 others(305): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCC TCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(281): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTC TCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp2 HG01516.hp2 others(1): Show HG00280.hp2 HG01261.hp2 HG01516.hp2 HG02293.hp2	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0001 a0004c0006 a0013c0037 a0001c0001 a0004c0006 a0013c0037	a0001c0001t0003 a0004c0006t0014 a0013c0037t0041 a0001c0001t0003 a0004c0006t0014 a0013c0037t0041	a0001c0001t0003g0151 a0001c0001t0003g0153 a0004c0006t0014g0216 others(1): Show a0001c0001t0003g0151 a0001c0001t0003g0153 a0004c0006t0014g0216 a0013c0037t0041g0166	4	25	0.1600	288	c.482 others(305): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCC TCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D3_chr3_54117552_55079557	54991714	T T	TGAAATAA others(281): Show TGAAATAAGAAGTTGAGCACAAGATTCTCCACTGTGTGGCCATGGACGGT GTCGTCAGCCTCTCTGAGCCTGTTTCTTCATTACCAAAATAGGGATCTCA ATGGATTTTCTGAGAATTAACTAAAATACAATATGTTAAAATGCTTTTCA AATTGCAAAGCCATTGCAAACAGGAGATAAGAATACCTTTTGAGTAGAGT CAAAAGGTGTCATAGGAGTCTTCTTCTTTCAAGGTTCCTGACGGGGCCTT TGTGATACTCTGGACTTGAAATAAGAAGACTTGAAATAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG02965.hp1 others(1): Show HG02717.hp1 HG02922.hp1 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0032 a0001c0002 a0001c0032	a0001c0002t0001 a0001c0032t0001 a0001c0002t0001 a0001c0032t0001	a0001c0002t0001g0040 a0001c0002t0001g0060 a0001c0002t0001g0070 others(1): Show a0001c0002t0001g0040 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0032t0001g0048	4	116	0.0345	288	c.269 others(307): Show c.2690+3961_2690+3962insGAAATAAGAAGTTGAGCACAAGATTC TCCACTGTGTGGCCATGGACGGTGTCGTCAGCCTCTCTGAGCCTGTTTCT TCATTACCAAAATAGGGATCTCAATGGATTTTCTGAGAATTAACTAAAAT ACAATATGTTAAAATGCTTTTCAAATTGCAAAGCCATTGCAAACAGGAGA TAAGAATACCTTTTGAGTAGAGTCAAAAGGTGTCATAGGAGTCTTCTTCT TTCAAGGTTCCTGACGGGGCCTTTGTGATACTCTGGACTTGAAATAAGAA GACTTGAAATAA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	31/37			chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(281): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0056 a0002c0003t0001g0056	1	62	0.0161	288	c.100 others(307): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(281): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCAC CACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCA CGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACG AGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19012.hp1 NA18962.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0052 a0001c0001t0004 a0001c0001t0052	a0001c0001t0004g0130 a0001c0001t0052g0180 a0001c0001t0004g0130 a0001c0001t0052g0180	2	108	0.0185	288	c.-77 others(307): Show c.-77+16069_-77+16356dupCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGG ACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGAC ATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACAT GCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGC CTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCT GCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744362	T T	TGTCCTGG others(281): Show TGTCCTGGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACG TCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTC CTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCT GGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCACGTCCTGGGC ACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0050 a0001c0003t0002g0050	1	219	0.0046	288	c.-77 others(307): Show c.-77+16338_-77+16339insGTGCCTGCTCGTGGTGCCCAGGACGT GCCTGCTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACATGC CTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCT GCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGC TCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTC GTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACGTGCCTGCTCGT GGTGCCCAGGAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCDC110_chr4_185440182_185476733	185460992	T T	TGGTAGTC others(281): Show TGGTAGTCACGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCT TTCGCCCAAGCTGGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCC GCCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGCACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02818.hp1 HG03471.hp2 others(2): Show HG00642.hp1 HG02818.hp1 HG03471.hp2 HG04204.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0004t0003 a0002c0002t0001 a0002c0004t0001 a0002c0004t0003	a0002c0002t0001g0223 a0002c0004t0001g0228 a0002c0004t0001g0229 others(2): Show a0002c0002t0001g0223 a0002c0004t0001g0228 a0002c0004t0001g0229 a0002c0004t0001g0278 a0002c0004t0003g0192	5	273	0.0183	288	c.348 others(301): Show c.348+56_348+57insGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGC CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCC AAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTT GGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACGTG ACTACC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	5/6			chr4	TogoVar
CCDC110_chr4_185440182_185476733	185460992	T T	TGGTAGTC others(281): Show TGGTAGTCACGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCT TTCGCCCAAGCTGGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCC GCCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGCACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0182 a0002c0002t0003g0182	1	269	0.0037	288	c.348 others(301): Show c.348+56_348+57insGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGC CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCC AAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTT GGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACGTG ACTACC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	5/6			chr4	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(281): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCT CCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01928.hp2 HG00140.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0009	2	19	0.1053	288	c.-22 others(299): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(281): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATAATATATATTA TATAAAATATATATTATATTATATAATATATATTTTATAAAATATATATT ATATTATATAATATATATTTTATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	92	0.0109	288	c.154 others(307): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATAATATATA TTATATAAAATATATATTATATTATATAATATATATTTTATAAAATATAT ATTATATTATATAATATATATTTTATAAAATATATATTATATTATATAAT ATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCN4_chr8_133186039_133236690	133213975	A A	ATATATAG others(281): Show ATATATAGTTATATATACTATATATACACTATATATAGTTATATATACTA TATATAACTATATATAGTGTATATATACTATATATAACTATATATAGTAT ATATACTATATATACACTATATATAGTATATATACTATATATACACTATA TATAGTAGTTATATATACTATATATACACTATATATAGTATATATACACT ATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTATAC ATACTATATATACACTATATATAGTAGTTATATATACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	394	0.0025	288	c.349 others(303): Show c.349+840_349+841insTATATATACTATATATACACTATATATAGT TATATATACTATATATAACTATATATAGTGTATATATACTATATATAACT ATATATAGTATATATACTATATATACACTATATATAGTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT ATATATACACTATATATAGTAGTTATACATACTATATATACACTATATAT AGTAGTTATACATACTATATATACACTATATATAGTAGTTATATATACAC TATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(281): Show AAAAAATATATATATATATATATATATATATATATATATACACACTCATA TATATATATATATATACTCATATATATATATATATACTCATATATATATA TATATACTCATATATATATATATACTCATATATATATATATATACTCATA TATATATATACTCATATATATATATACTCATATATATATATACTCATATA TATATATATACACTCATATATATATATATACACTCATATATATATATATA TATACTCATATATATATATATATATACTCATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0024 a0002c0003t0006g0024	1	218	0.0046	288	c.232 others(309): Show c.2326-11614_2326-11613insAAAATATATATATATATATATATA TATATATATATATACACACTCATATATATATATATATATACTCATATATA TATATATATACTCATATATATATATATATACTCATATATATATATATACT CATATATATATATATATACTCATATATATATATACTCATATATATATATA CTCATATATATATATACTCATATATATATATATACACTCATATATATATA TATACACTCATATATATATATATATATACTCATATATATATATATATATA CTCATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(281): Show AAAAAATATATATATATATATATATATATATATATATATACACACTCATA TATATATATATATATACTCATATATATATATATATACTCATATATATATA TATATACTCATATATATATATATACTCATATATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATACTCATA TATATATATATACACTCATATATATATATATACACTCATATATATATATA TATATACTCATATATATATATATATATACTCATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0026 a0002c0003t0006g0026	1	218	0.0046	288	c.232 others(309): Show c.2326-11614_2326-11613insAAAATATATATATATATATATATA TATATATATATATACACACTCATATATATATATATATATACTCATATATA TATATATATACTCATATATATATATATATACTCATATATATATATATACT CATATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATACTCATATATATATATATACACTCATATATATA TATATACACTCATATATATATATATATATACTCATATATATATATATATA TACTCATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAATATA others(281): Show AAAATATATATATATATATATATATATATATATATATATACACACTCATA TATATATATATATATACTCATATATATATATATATACTCATATATATATA TATATACTCATATATATATATATACTCATATATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATACTCATA TATATATATACACTCATATATATATATATACACTCATATATATATATATA TATACTCATATATATATATATATATACTCATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0025 a0002c0003t0006g0025	1	218	0.0046	288	c.232 others(309): Show c.2326-11614_2326-11613insAATATATATATATATATATATATA TATATATATATATACACACTCATATATATATATATATATACTCATATATA TATATATATACTCATATATATATATATATACTCATATATATATATATACT CATATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATACTCATATATATATATACACTCATATATATATA TATACACTCATATATATATATATATATACTCATATATATATATATATATA CTCATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD226_chr18_69848274_69952873	69894547	A A	AGAGAAAG others(281): Show AGAGAAAGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGG GGAGGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAG GGAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCA GGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGA CCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGC AGGGGAGGGGAAGGGCAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG01256.hp2 others(13): Show HG00733.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01978.hp1 HG02109.hp2 HG02300.hp2 HG02698.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03654.hp1 HG06807.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 others(6): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0027 a0001c0001t0028 a0001c0001t0069 a0001c0001t0097 a0001c0001t0101	a0001c0001t0003g0139 a0001c0001t0003g0153 a0001c0001t0003g0156 others(13): Show a0001c0001t0003g0139 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0220 a0001c0001t0003g0225 a0001c0001t0008g0012 a0001c0001t0013g0160 a0001c0001t0014g0018 a0001c0001t0027g0025 a0001c0001t0027g0068 a0001c0001t0028g0064 a0001c0001t0069g0047 a0001c0001t0097g0188 a0001c0001t0101g0202	16	244	0.0656	288	c.727 others(305): Show c.727+1153_727+1154insCTCCCCTCCCCTTCCCCTCCCCTGCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTT CCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCC CTCCTTTCTC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CDH4_chr20_61247261_61945617	61329283	G G	GTTTAAGC others(281): Show GTTTAAGCCCAGTGTGCTGCAGTGGATTGCAGCATGCGTGGAGGGCACCC AGGTCCTCATGGTCCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTT AAGCCCAGTGTGCTGCGGTGGATTGCAGCGTGCGTGGAGGGCACCCAGGT CCTCATGGTCCCCTCATGGGTCTGGGACACGGGTCGAGGTGGCTTTAAGC CCACTGTGCTGCAGTGGATTGCAGCATGCGTGGAGGGCACCCAGGTCCTC ATGGTCCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0102 a0002c0002t0023g0102	1	105	0.0095	288	c.169 others(307): Show c.169+74365_169+74366insAGTGGATTGCAGCATGCGTGGAGGGC ACCCAGGTCCTCATGGTCCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGG CTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCGTGCGTGGAGGGCACCC AGGTCCTCATGGTCCCCTCATGGGTCTGGGACACGGGTCGAGGTGGCTTT AAGCCCACTGTGCTGCAGTGGATTGCAGCATGCGTGGAGGGCACCCAGGT CCTCATGGTCCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGC CCAGTGTGCTGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61795134	A A	AATGGTGA others(281): Show AATGGTGATGGTGATGATGATGGTAGTGATGATGGTGATGGTAGTGATAA TGGTGATGATGGTGATGGTAGTGATGGTGGTGATGATGGTAATGGTAGTG ATGATGGTGATGGTAGTGATAATGGTGATGATGGTGATGATGATGGTAGT AATGATGATGGTAGTGATGATGGTGATGGTAGTGATAATGGTGATGATGG TGATGGTGATGATGGTGATGATGATGGTAGTGATAATGGGGATGATGATG GTGATGGTAGTGATGATGGTGATGATGGTAATGGTAGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01358.hp1 HG01358.hp2 others(1): Show HG00639.hp1 HG01358.hp1 HG01358.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0011t0005 a0002c0002t0004 others(1): Show a0001c0001t0001 a0001c0011t0005 a0002c0002t0004 a0002c0005t0002	a0001c0001t0001g0046 a0001c0011t0005g0003 a0002c0002t0004g0014 others(1): Show a0001c0001t0001g0046 a0001c0011t0005g0003 a0002c0002t0004g0014 a0002c0005t0002g0060	4	58	0.0690	288	c.576 others(307): Show c.576+21955_576+21956insGTGATGGTGATGATGATGGTAGTGAT GATGGTGATGGTAGTGATAATGGTGATGATGGTGATGGTAGTGATGGTGG TGATGATGGTAATGGTAGTGATGATGGTGATGGTAGTGATAATGGTGATG ATGGTGATGATGATGGTAGTAATGATGATGGTAGTGATGATGGTGATGGT AGTGATAATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGGTAG TGATAATGGGGATGATGATGGTGATGGTAGTGATGATGGTGATGATGGTA ATGGTAGTGATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDHR2_chr5_176544342_176600824	176591765	G G	GGTGTTGA others(281): Show GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02258.hp1 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0017 a0002c0001t0001g0017	2	328	0.0061	288	c.373 others(305): Show c.3734+281_3734+282insGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTT	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31			chr5	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(281): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02895.hp2 HG01167.hp1 HG02895.hp2	a0005 a0008 a0005 a0008	a0005c0010 a0008c0008 a0005c0010 a0008c0008	a0005c0010t0002 a0008c0008t0007 a0005c0010t0002 a0008c0008t0007	a0005c0010t0002g0228 a0008c0008t0007g0143 a0005c0010t0002g0228 a0008c0008t0007g0143	2	67	0.0299	288	c.-25 others(299): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(281): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0002 a0006c0034t0002	a0006c0034t0002g0035 a0006c0034t0002g0035	1	66	0.0152	288	c.-25 others(299): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CELSR1_chr22_46356174_46542620	46366247	G G	GGGGCAGG others(281): Show GGGGCAGGGAGGGAAGTTGCGGGTGGGAAGAAAGGTGGGGGGGAGGAGAG GTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGA AAGGTGCGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCACGGGGG GGGAGGAGAGGTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGC ACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCACGGGGGGAGGAAA GGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0026 a0026	a0026c0063 a0026c0063	a0026c0063t0001 a0026c0063t0001	a0026c0063t0001g0098 a0026c0063t0001g0098	1	83	0.0120	288	c.830 others(305): Show c.8300+138_8300+139insGCACCTTTCCTCCCCCCGCACCTTTCCT CCCCCCGCACCTTTCCTCCCCCCGTGCACCTTTCCTCCCCCCGCACCTTT CCTCCCCCCGTGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGTGCA CCTCTCCTCCCCCCCCGTGCACCTTTCCTCCCCCCGCACCTTTCCTCCCC CCGCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCACCTTTCCTC CCCCCGTGCACCTCTCCTCCCCCCCACCTTTCTTCCCACCCGCAACTTCC CTCCCTGCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(281): Show AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG01928.hp1 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	2	170	0.0118	288	c.403 others(303): Show c.403-623_403-622insCTTTCTTTCTCTTTCTTTCTCTTTCTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(281): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02735.hp1 HG02897.hp1 others(4): Show HG02145.hp1 HG02735.hp1 HG02897.hp1 HG02965.hp1 HG03239.hp1 HG03491.hp1 HG03831.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0003c0004 a0006c0008 others(1): Show a0001c0001 a0003c0004 a0006c0008 a0007c0006	a0001c0001t0001 a0003c0004t0001 a0006c0008t0001 others(1): Show a0001c0001t0001 a0003c0004t0001 a0006c0008t0001 a0007c0006t0001	a0001c0001t0001g0028 a0003c0004t0001g0110 a0006c0008t0001g0021 others(4): Show a0001c0001t0001g0028 a0003c0004t0001g0110 a0006c0008t0001g0021 a0006c0008t0001g0022 a0007c0006t0001g0175 a0007c0006t0001g0176 a0007c0006t0001g0180	7	64	0.1094	288	c.141 others(305): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLDN8_chr21_30209006_30221097	30210467	C C	CATATATA others(281): Show CATATATATATATATATATATATATATATATATATATATATATATAGTCT CCCTAATTCTAATTCAAGGTACATATATATATATATATATATATATATAT ATATATATATATAGTCTCCCTAATTCTAATTCAAGGTACATATATATATA TATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTACATATAT ATATATATATATATATATATATATATATATATATATATATATATATAGTC TCCCTAATTCTAATTCAAGGTACATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0000 a0002c0002t0006g0000	1	252	0.0040	288	c.47 others(299): Show c.4780_*4781insATATATATATATATATGTACCTTGAATTAGAATT AGGGAGACTATATATATATATATATATATATATATATATATATATATATA TATATATATATGTACCTTGAATTAGAATTAGGGAGACTATATATATATAT ATATATATATATATATGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATATATATATATATATATATGTACCTTGAATTAGAAT TAGGGAGACTATATATATATATATATATATATATATATATATATATATAT ATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3538		chr21	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(281): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCAC CACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00597.hp2 others(44): Show HG00140.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG01255.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG02109.hp2 HG02165.hp1 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02735.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03491.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 NA18906.hp2 NA18943.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18968.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp1 NA19009.hp2 NA19030.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19081.hp1 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0012 a0022	a0001c0003 a0001c0026 a0001c0028 others(4): Show a0001c0003 a0001c0026 a0001c0028 a0003c0005 a0009c0012 a0012c0011 a0022c0024	a0001c0003t0001 a0001c0026t0001 a0001c0028t0001 others(4): Show a0001c0003t0001 a0001c0026t0001 a0001c0028t0001 a0003c0005t0001 a0009c0012t0001 a0012c0011t0001 a0022c0024t0001	a0001c0003t0001g0004 a0001c0003t0001g0089 a0001c0003t0001g0116 others(43): Show a0001c0003t0001g0004 a0001c0003t0001g0089 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0160 a0001c0003t0001g0312 a0001c0026t0001g0125 a0001c0028t0001g0159 a0003c0005t0001g0270 a0003c0005t0001g0272 a0009c0012t0001g0146 a0012c0011t0001g0124 a0012c0011t0001g0138 a0022c0024t0001g0129	47	103	0.4563	288	c.360 others(305): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAG GTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGC GGAAGGAGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(281): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGTCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCAC CACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02818.hp2 HG02896.hp2 others(3): Show HG01109.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp1 HG06807.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0094 a0003c0005t0001g0268 a0003c0005t0001g0269 others(3): Show a0003c0005t0001g0094 a0003c0005t0001g0268 a0003c0005t0001g0269 a0003c0005t0001g0271 a0003c0005t0001g0273 a0003c0005t0001g0285	6	62	0.0968	288	c.360 others(305): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGGGGGAG GTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGC GGAAGGAGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202413	G G	GGCACCTC others(281): Show GGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCAC CACCCCTCCTTCCGTCATCCACGGCACCTCCCCCACCACCCCTCCTTCCG CCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACC TCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCC TCCTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGCCATCC ACGGCACCTCCCGCACCACCCCTCCTTCCGCCATCCACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02630.hp2 others(1): Show HG01891.hp1 HG02451.hp1 HG02630.hp2 HG03041.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0277 a0003c0005t0001g0278 a0003c0005t0001g0279 others(1): Show a0003c0005t0001g0277 a0003c0005t0001g0278 a0003c0005t0001g0279 a0003c0005t0001g0286	4	337	0.0119	288	c.360 others(305): Show c.3601-921_3601-920insTGTGGATGGCGGAAGGAGGGGTGGTGCG GGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGA TGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGG GTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGT GCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGACGG AAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGC	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCCCTCC others(281): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	196	0.0051	288	c.-42 others(299): Show c.-4275_-4274insTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45500995	G G	GGTGTGTG others(281): Show GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02071.hp2 HG02273.hp2 others(1): Show HG01981.hp2 HG02071.hp2 HG02273.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0002 a0001c0001t0001 a0001c0003t0001 a0001c0005t0002	a0001c0001t0001g0126 a0001c0003t0001g0225 a0001c0005t0002g0227 others(1): Show a0001c0001t0001g0126 a0001c0003t0001g0225 a0001c0005t0002g0227 a0001c0005t0002g0242	4	240	0.0167	288	c.268 others(307): Show c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTTGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(281): Show AATATATAAATATATATAAATATATATAAATATATAAATATATATATAAA TATATATAAATATATAAATATATATATAAATATATATATAAATATATATA AATATATAAATATATATGTAAATATATAAATATATAAATATATATGTAAA TATATAAATATATATAAATATATATATAAATATATATAAATATATAAATA TATATAAATACATATGTAAATATATAAATATATATAAATATATAAATATA TATAGATATATATGTAAATATATATAAATATATATAGAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0150 a0001c0015t0001g0150	1	120	0.0083	288	c.181 others(307): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATTTATATATTTACATATATATTTATATATTTATATATTTACATAT ATATTTATATATTTATATATATTTATATATATATTTATATATATATTTAT ATATTTATATATATTTATATATATATTTATATATTTATATATATTTATAT ATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098480	T T	TATATATA others(281): Show TATATATAAATATATATAAATATATAAATATATATGTAAATATATAAATA TATATAAATATATATATAAATATATATATAAATATATATAAATATATAAA TATATATAAATACATATGTAAATATATAAATATATATAAATATATAAATA TATATAGATATATATAAATATATACAAATATATATAGATATATATATAAA TATATATAAATATATATAGATATATATATAAATATATATAAATATATATA GATATATATAAATATATATAAATATATAGATATATATAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	240	0.0042	288	c.181 others(307): Show c.1812+2991_1812+2992insTTATATATATCTATATATTTATATAT ATTTATATATATCTATATATATTTATATATATTTATATATATATCTATAT ATATTTATATATATTTATATATATATCTATATATATTTGTATATATTTAT ATATATCTATATATATTTATATATTTATATATATTTATATATTTACATAT GTATTTATATATATTTATATATTTATATATATTTATATATATATTTATAT ATATATTTATATATATTTATATATTTACATATATATTTATATATTTATAT ATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(281): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0013 a0013	a0013c0057 a0013c0057	a0013c0057t0001 a0013c0057t0001	a0013c0057t0001g0234 a0013c0057t0001g0234	1	134	0.0075	288	c.180 others(307): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTG TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGA TAGACCGTGGCT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(281): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02145.hp2 others(14): Show HG01192.hp1 HG01891.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02717.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0013 a0015 a0020	a0001c0001 a0001c0002 a0001c0014 others(13): Show a0001c0001 a0001c0002 a0001c0014 a0001c0045 a0002c0013 a0002c0019 a0002c0054 a0002c0055 a0002c0056 a0002c0066 a0002c0090 a0003c0026 a0003c0093 a0013c0088 a0015c0096 a0020c0072	a0001c0001t0042 a0001c0002t0029 a0001c0014t0009 others(13): Show a0001c0001t0042 a0001c0002t0029 a0001c0014t0009 a0001c0045t0027 a0002c0013t0001 a0002c0019t0004 a0002c0054t0045 a0002c0055t0016 a0002c0056t0004 a0002c0066t0007 a0002c0090t0008 a0003c0026t0001 a0003c0093t0010 a0013c0088t0002 a0015c0096t0010 a0020c0072t0048	a0001c0001t0042g0022 a0001c0002t0029g0204 a0001c0014t0009g0004 others(14): Show a0001c0001t0042g0022 a0001c0002t0029g0204 a0001c0014t0009g0004 a0001c0045t0027g0205 a0002c0013t0001g0044 a0002c0019t0004g0365 a0002c0054t0045g0233 a0002c0055t0016g0250 a0002c0056t0004g0266 a0002c0066t0007g0181 a0002c0090t0008g0041 a0003c0026t0001g0032 a0003c0026t0001g0033 a0003c0093t0010g0148 a0013c0088t0002g0160 a0015c0096t0010g0209 a0020c0072t0048g0223	17	150	0.1133	288	c.180 others(307): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGA TAGACCGTGGCT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar

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