Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(274): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCCGACGCGTGCGGCC CCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	391	0.0026	281	c.36 others(292): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCC CCGACGCGTGCGGCCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C1orf94_chr1_34171907_34224131	34219840	A A	ATGTGTAA others(274): Show ATGTGTAAACAGGAATTAATGTAAGGATACTGTTTGCACTATGCACAATG TAAAGATACTCTATGCACATCCAGGTTGGACCAGCATTCTCAGTTCTGAC CTGCTGTATTACCAGCCTGGTTATTCACCTGGAATTTGAACCCCACCCTG GCTGAGGTCAGCAAGAGACAGTCTGGGGAACATTAGGAGTCCTAATCAAG ATAGCAATGAGAGACTGGGGGTCTGGAAGTCACCAGTGTCTCAGGGTGGG CCTAAGTCCAGTGCCCACAGGAGCATTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01169.hp2 others(29): Show HG01074.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG03688.hp1 NA18962.hp1 NA18988.hp1 NA19002.hp2 NA19003.hp1 NA19030.hp2 NA19054.hp2 NA19084.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0008 a0020	a0002c0002 a0004c0004 a0005c0007 others(2): Show a0002c0002 a0004c0004 a0005c0007 a0008c0013 a0020c0021	a0002c0002t0005 a0002c0002t0009 a0004c0004t0005 others(7): Show a0002c0002t0005 a0002c0002t0009 a0004c0004t0005 a0004c0004t0009 a0004c0004t0014 a0004c0004t0018 a0005c0007t0005 a0005c0007t0018 a0008c0013t0005 a0020c0021t0005	a0002c0002t0005g0036 a0002c0002t0009g0024 a0002c0002t0009g0129 others(27): Show a0002c0002t0005g0036 a0002c0002t0009g0024 a0002c0002t0009g0129 a0002c0002t0009g0142 a0002c0002t0009g0156 a0002c0002t0009g0157 a0002c0002t0009g0187 a0004c0004t0005g0048 a0004c0004t0005g0058 a0004c0004t0005g0163 a0004c0004t0005g0219 a0004c0004t0005g0223 a0004c0004t0005g0224 a0004c0004t0005g0225 a0004c0004t0005g0271 a0004c0004t0005g0275 a0004c0004t0009g0183 a0004c0004t0014g0279 a0004c0004t0014g0289 a0004c0004t0014g0290 a0004c0004t0018g0174 a0005c0007t0005g0019 a0005c0007t0005g0054 a0005c0007t0005g0085 a0005c0007t0005g0112 a0005c0007t0005g0245 a0005c0007t0005g0273 a0005c0007t0018g0103 a0008c0013t0005g0200 a0020c0021t0005g0148	32	356	0.0899	281	c.10 others(292): Show c.1079_*1080insTGTGTAAACAGGAATTAATGTAAGGATACTGTTT GCACTATGCACAATGTAAAGATACTCTATGCACATCCAGGTTGGACCAGC ATTCTCAGTTCTGACCTGCTGTATTACCAGCCTGGTTATTCACCTGGAAT TTGAACCCCACCCTGGCTGAGGTCAGCAAGAGACAGTCTGGGGAACATTA GGAGTCCTAATCAAGATAGCAATGAGAGACTGGGGGTCTGGAAGTCACCA GTGTCTCAGGGTGGGCCTAAGTCCAGTGCCCACAGGAGCATTTCTTT	C1orf94	ENSG00000142698.15	transcript	ENST00000488417.2	protein_coding		710		chr1	TogoVar
C20orf96_chr20_265863_295750	279065	A A	AGGGCGGG others(274): Show AGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAAGGAGGGC GGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGG GAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGA GGGAGGGCGGGAGGGATGGAGGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	410	0.0024	281	c.465 others(296): Show c.465+106_465+107insGCCCTCCCTCCCTCCATCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCG CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCC TCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTC CCGCCCTCCTTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCT CCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCC C	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C7orf50_chr7_992006_1143247	1116978	A A	ACGGACCG others(274): Show ACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGC AGCTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGGATGATGACAT CACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGA TGACACCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCA GGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCC CACGCAGGATGATGACATCACTGCAGCTCTAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04204.hp1 HG02698.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0206 a0001c0001t0011g0207	2	326	0.0061	281	c.129 others(300): Show c.129+10278_129+10279insGTAGAGCTGCAGTGATGTCATCATCC TGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCA TCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTG GTGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCT GCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGT AGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCG GTCCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(274): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	281	c.-22 others(292): Show c.-2276_-2275insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGC CTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	GGAGCAGC others(274): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	281	c.-22 others(291): Show c.-2275delTinsGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCT TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2080		chr8	TogoVar
CACNA1E_chr1_181478517_181813084	181632138	T T	TGACACCT others(274): Show TGACACCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19043.hp1 NA21309.hp1 HG02723.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0063 a0001c0001t0070 a0001c0028t0042 a0001c0001t0063 a0001c0001t0070 a0001c0028t0042	a0001c0001t0063g0026 a0001c0001t0070g0037 a0001c0028t0042g0025 a0001c0001t0063g0026 a0001c0001t0070g0037 a0001c0028t0042g0025	3	206	0.0146	281	c.952 others(300): Show c.952-19188_952-19187insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGGACACCT CTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CALN1_chr7_71774491_72417338	72106743	A A	AGGGAGGA others(274): Show AGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAG GGAGGGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGGGAGGAAGGGAGGGAGGGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGG AAGGAAGGGAGGGAGGGGAGGAAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	142	0.0070	281	c.245 others(296): Show c.245-450_245-449insCTCCCTCCCTTCCTCCCCTCCCTCCCTTCC TTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCCTCCCTCCCTTCCTCC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCCT CCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCC C	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(274): Show GGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGGAAGG GGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGT GGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGG GGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGT GGGGGAGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGG GAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0178 a0001c0003t0001g0178	1	340	0.0029	281	c.104 others(300): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCCC TTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN12_chr19_38725192_38749474	38735912	C C	CGGGGCGG others(274): Show CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGG CGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCT GGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGG GGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGG GGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0183	1	342	0.0029	281	c.158 others(298): Show c.1583+197_1583+198insCAGAACCCCCGCCCCGCCCCGCCCCCAG AACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAG AACCCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCGC CCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGC CCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCGCCCCCAGAACCCCCGC CCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAGAACCCCCGCCCCGC CCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(274): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCCGGTC GGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTC GGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18979.hp1 HG01261.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0295 a0001c0003t0001g0075 a0001c0002t0001g0295 a0001c0003t0001g0075	2	410	0.0049	281	c.206 others(298): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGG TCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGT CCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(274): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCG GTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTC GGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0037 a0001c0006t0001g0037	1	410	0.0024	281	c.206 others(298): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGT CCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGT CCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(274): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCG GTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCG GTGAGGGGCCCCGGTCGGTGAGGGTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0163 a0001c0004t0013g0163	1	410	0.0024	281	c.206 others(298): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGT CCCGGTCGGTGAGGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGT CCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD11_chr7_2901142_3048867	2909401	A A	ACCCCTCC others(274): Show ACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTC CGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCC CACCCTCCGCCTCGCCTCTCATCCCTCCACCCCTCGCCCCTCCGCCCCCA CCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCCCCCACCCCTC CGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCT CGCCCCTCCGCCCCCACCCCTCCGCCCCTCAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp1 HG02280.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0308 a0001c0009t0002g0314 a0001c0009t0002g0308 a0001c0009t0002g0314	2	322	0.0062	281	c.326 others(298): Show c.3260+648_3260+649insGTGAGGGGCGGAGGGGTGGGGGCGGAGG GGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGG GGCGGAGGGGTGGGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGA GGGGTGGGGGCGGAGGGGCGAGGGGTGGAGGGATGAGAGGCGAGGCGGAG GGTGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGG GGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAG GGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(274): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0083 a0001c0001t0006g0083	1	410	0.0024	281	c.-22 others(292): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(274): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	281	c.-22 others(292): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(274): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp1 NA18522.hp2 HG02886.hp2 HG02976.hp1 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0028 a0003c0004t0003g0028	3	454	0.0066	281	c.626 others(296): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATAGAGATTGG G	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCSER2_chr10_84323589_84523517	84501835	A A	AAAATATA others(274): Show AAAATATATATATATATATATATATATATATATATATACACTCATATATA TATATATACTCATATATATATATATATACTCATATATATATATATATATA CTCATATATATATATACTCATATATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATATACTCATATATATA TATACTCATATATATATATATATATATATACT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19085.hp1 NA18974.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0127 a0002c0002t0003g0132 a0002c0002t0003g0127 a0002c0002t0003g0132	2	370	0.0054	281	c.232 others(302): Show c.2326-11614_2326-11613insAAATATATATATATATATATATAT ATATATATATATACACTCATATATATATATATACTCATATATATATATAT ATACTCATATATATATATATATATACTCATATATATATATACTCATATAT ATATATATATACTCATATATATATATACTCATATATATATATATACTCAT ATATATATATACTCATATATATATATACTCATATATATATATATACTCAT ATATATATATATACTCATATATATATATACTCATATATATATATATATAT ATATACT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(274): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAG GGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGATGGGGGCA GGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAGACGGGGA GGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGGGAG GGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02615.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0060 a0001c0001t0023 a0001c0001t0060	a0001c0001t0023g0052 a0001c0001t0060g0029 a0001c0001t0023g0052 a0001c0001t0060g0029	2	256	0.0078	281	c.727 others(298): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTGCCCTTCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCT CCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCT CCCCTGCCCCCATCCACTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTC CCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CFAP46_chr10_132803392_132947570	132888362	G G	GTACCCCT others(274): Show GTACCCCTGCACCTTCACCCCTGCCACCTGCACCCCGCCACCTTCACCCC TGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCG CCTGCACCCCTGCCACCTGCACCCCGCCACCTTCACCCCTGCCGCCTGCA CCCCTGCCGCCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGC TGCCTGCACCCCGCCACCTTCACCCCTGCCACCTGCACCCCTGCCACCTT CACACCTGCCACCTTCACCCCTGCCGCCTTCA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0144	1	246	0.0041	281	c.330 others(300): Show c.3305-2404_3305-2403insTGAAGGCGGCAGGGGTGAAGGTGGCA GGTGTGAAGGTGGCAGGGGTGCAGGTGGCAGGGGTGAAGGTGGCGGGGTG CAGGCAGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGCGG CAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCGGGGTGCAGGTGGCAGGGG TGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGGGTGCAG GCGGCAGGGGTGAAGGTGGCGGGGTGCAGGTGGCAGGGGTGAAGGTGCAG GGGTA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CNBD1_chr8_86861415_87387859	87136885	T T	TTTATATT others(274): Show TTTATATTATATATAAATTATATATTTATATTATATATAAATTATATATT TATATTATATATAAATATATATATTTATATAAAATATAAATATATATATT ATATATAATATAAATATATATATTTATATATGTATATTTATATATAATAT AAATTATATAATTTATATTATATATAAATTATATAATTTATATTATATAT AAATATATATATTTATATTCTATATAAATTATATAATTTATATTCTATAT AAATTATATAATTTATATTCTATATAAATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	152	0.0066	281	c.432 others(300): Show c.432-69107_432-69106insTATATTATATATAAATTATATATTTA TATTATATATAAATTATATATTTATATTATATATAAATATATATATTTAT ATAAAATATAAATATATATATTATATATAATATAAATATATATATTTATA TATGTATATTTATATATAATATAAATTATATAATTTATATTATATATAAA TTATATAATTTATATTATATATAAATATATATATTTATATTCTATATAAA TTATATAATTTATATTCTATATAAATTATATAATTTATATTCTATATAAA TATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNTNAP5_chr2_124020287_124926219	124373873	G G	GTACTAAG others(274): Show GTACTAAGCTATTAATAAAATTATATTTATGAATAATTTTACATGTAACA TTCATTTTATGATATGTTAAGTGAAGATCACAAGACAATATATTTGCAGT GTGATATCACTTTTGTGTGTACATGTATATATGTGTGCATGTGTGCATAG AAGAGATAATATTTATCTATGGTGGTGATATTTTGAGATACTTAATTCTA CAGTGATCCTATATTACTTTGTAATAAAGAGACTGGTACTATATTTAAGT AAAAATAAATTCTTAGATTTTAAGTACAAATT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp1 NA19043.hp2 HG02970.hp2 NA18906.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0013 a0001c0002t0001 a0002c0004t0001 a0001c0001t0013 a0001c0002t0001 a0002c0004t0001	a0001c0001t0013g0041 a0001c0002t0001g0062 a0002c0004t0001g0001 a0001c0001t0013g0041 a0001c0002t0001g0062 a0002c0004t0001g0001	3	64	0.0469	281	c.382 others(300): Show c.382-43569_382-43289dupTACTAAGCTATTAATAAAATTATATT TATGAATAATTTTACATGTAACATTCATTTTATGATATGTTAAGTGAAGA TCACAAGACAATATATTTGCAGTGTGATATCACTTTTGTGTGTACATGTA TATATGTGTGCATGTGTGCATAGAAGAGATAATATTTATCTATGGTGGTG ATATTTTGAGATACTTAATTCTACAGTGATCCTATATTACTTTGTAATAA AGAGACTGGTACTATATTTAAGTAAAAATAAATTCTTAGATTTTAAGTAC AAATT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL23A1_chr5_178232618_178595393	178585576	C C	CACAGCCC others(274): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGATGCT GGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGTTGATGCTGGGGGTAACACTCCACGTCCCTGGATGGCGCTGGGGT AACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGT TGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCC TACAGCCCTGGATGGCGCTGGGGTAACGCCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03942.hp2 HG02572.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0002 a0001c0001t0005 a0002c0003t0002	a0001c0001t0005g0144 a0002c0003t0002g0138 a0001c0001t0005g0144 a0002c0003t0002g0138	2	236	0.0085	281	c.294 others(298): Show c.294+4327_294+4328insAGGGCGTTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAG TGTTACCCCAGCGCCATCCAGGGACGTGGAGTGTTACCCCCAGCATCAAC CAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTAC CCCCAGCATCAACCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGC TGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587819	A A	AGCCACAG others(274): Show AGCCACAGATACACGGCCCCCCCGTGTCACCCACAGATACACGGCCCCCG TGTCAGCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCC CCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGC CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACAC GGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATA CACGGCCCCCGTGTCAGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0016 a0012c0018t0002g0016	1	348	0.0029	281	c.927 others(296): Show c.927+717_927+718insGCCACAGATACACGGCCCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCA GCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTG TCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCC GTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCC CCCGTGTCAGCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGG C	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461482	G G	GGACCTAT others(274): Show GGACCTATCCACACAGCAGCCACATTCACCATGGGGGCTGTATCCGCACA GCACACACATTCACCGTGGAGGGCGTATCCGCACAGCGGCCACATTCACC ATGGAGGGCCTATCCACACAGCGGCCACATTCACCATGGGGGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGC GTATCCGCACAGCGGCCACATTCACCATGGAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	238	0.0042	281	c.635 others(298): Show c.635-2841_635-2840insATCCATGGTGAATGTGGCCGCTGTGCGG ATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGG TGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTG TGCGGATACGCCCCCCCATGGTGAATGTGGCCGCTGTGTGGATAGGCCCT CCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCCACGGTGAATGTGT GTGCTGTGCGGATACAGCCCCCATGGTGAATGTGGCTGCTGTGTGGATAG GTC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(274): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGG GGAGGGGGAGGGGAGGGAGAGGGGAGGGAGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02129.hp2 NA18982.hp2 HG00099.hp1 HG02129.hp2 NA18982.hp2	a0001 a0009 a0001 a0009	a0001c0005 a0001c0007 a0009c0097 a0001c0005 a0001c0007 a0009c0097	a0001c0005t0002 a0001c0007t0032 a0009c0097t0018 a0001c0005t0002 a0001c0007t0032 a0009c0097t0018	a0001c0005t0002g0111 a0001c0007t0032g0033 a0009c0097t0018g0089 a0001c0005t0002g0111 a0001c0007t0032g0033 a0009c0097t0018g0089	3	126	0.0238	281	c.416 others(302): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCTCCCCTCTCCCTCCCCT CCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATCCCT CTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DBNDD1_chr16_89999871_90024456	90008344	C C	CACCTCCC others(274): Show CACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAG GACTTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACGTCCCAA GGGGCCTCACCCCCCAAACACACCCTTCAGGACTTCCCAAGGGGCCTCAG CCCACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAAC ACACCTCACAGGACTTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCA GGACGTCCCAAGGGGCCTCACCCCCCAAACAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	412	0.0024	281	c.319 others(296): Show c.319+439_319+440insATGTTTGGGGGGTGAGGCCCCTTGGGACGT CCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGAAGTCCTGTGAGGT GTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGGTGGTG GGCTGAGGCCCCTTGGGAAGTCCTGAAGGGTGTGTTTGGGGGGTGAGGCC CCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGAAG TCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGG T	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DCAF10_chr9_37795797_37872664	37853503	C C	CAAAAAGA others(274): Show CAAAAAGATTGTTAAGCGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0039 a0001c0001t0063g0039	1	356	0.0028	281	c.852 others(298): Show c.852-1261_852-1260insGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTGTTA AGC	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(274): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGC CTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT CCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	281	c.27 others(292): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGC GGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGG GAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGGGAG GCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGKD_chr2_233349494_233477098	233397204	G G	GCGGGGGG others(274): Show GCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCG GGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGG GGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGG GCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCC AGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGA GCGAGAGGACTCCAGAGGGGACCAGGGTGGCT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0056 a0008c0008t0002g0056	1	336	0.0030	281	c.348 others(298): Show c.348+6721_348+6722insCGGGGGGGGCCAGAGCGAGAGGACTCCA GAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAG GGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGG ACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACC AGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGG GTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTG GCT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(274): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCACC CACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCA GCGCCCCCCTGGACCCCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCC ACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCC CCTCCACCTCCCAGCGCCCCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01175.hp2 others(25): Show HG00280.hp2 HG00741.hp1 HG01175.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02698.hp1 HG03491.hp1 HG03492.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18946.hp1 NA18954.hp2 NA18961.hp2 NA18967.hp2 NA18970.hp1 NA18986.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19007.hp2 NA19088.hp2 NA20905.hp1 NA20905.hp2	a0002 a0011 a0015 a0002 a0011 a0015	a0002c0003 a0011c0053 a0015c0052 a0002c0003 a0011c0053 a0015c0052	a0002c0003t0003 a0002c0003t0023 a0011c0053t0023 others(1): Show a0002c0003t0003 a0002c0003t0023 a0011c0053t0023 a0015c0052t0003	a0002c0003t0003g0003 a0002c0003t0003g0048 a0002c0003t0003g0124 others(7): Show a0002c0003t0003g0003 a0002c0003t0003g0048 a0002c0003t0003g0124 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0143 a0002c0003t0023g0131 a0011c0053t0023g0130 a0015c0052t0003g0125	28	438	0.0639	281	c.663 others(296): Show c.663+102_663+103insACGGGGTCCAGGGGGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGGGGGGC GCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGG TGGGTGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGG TTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGG C	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(274): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCACC CACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCA GCGCCCCCCTGGACCCCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCC ACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCC CCTCCACCTCCCAGCGCCTCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0142 a0002c0003t0003g0142	1	438	0.0023	281	c.663 others(296): Show c.663+102_663+103insACGGGGTCCAGGGAGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGGGGGGC GCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGG TGGGTGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGG TTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGG C	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(274): Show CCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCACCCCCACC CCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0152 a0006c0008t0001g0152	1	320	0.0031	281	c.39 others(292): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGT GGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIP2C_chr10_269201_694668	478385	G G	GAGGGGAG others(274): Show GAGGGGAGAAGAAGGGAGGGGAGAGGAGGGGAGGGGAGAGGAGGGGAGGG GAGAAGAAGGGAGGGGAGAGGAGGCGAGGGGAGAAGAAGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAA GAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGC GGGGCAGGGCGGGGCAGGGAGGGGAGGGGCGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	88	0.0114	281	c.158 others(298): Show c.158-5837_158-5836insTCGCCCCTCCCCTCCCTGCCCCGCCCTG CCCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTCC CTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCTTCTCCCCTCGCCTCCTCTCCCCTCCCTTCT TCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCCCCTCCCTTCTTCTCC CCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DMD_chrX_31114222_33216549	32727789	T T	TATATTCC others(274): Show TATATTCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCACCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0024 a0024	a0024c0036 a0024c0036	a0024c0036t0004 a0024c0036t0004	a0024c0036t0004g0011 a0024c0036t0004g0011	1	126	0.0079	281	c.650 others(300): Show c.650-28497_650-28496insGTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG AATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DNAAF5_chr7_721699_791475	752354	G G	GTGATGAC others(274): Show GTGATGACGAAGCCTTTGTCACCGCGGGCCGGGCCACGCTTCCCTGGGTG CATCCTCAAAAGACTGCAGAGTGACGACGAAGCCTTCGTGACCGCGGGCT GGGCCACGCTTCGTGGGATACGTCCTCAAAAGACCACAGAGTGACGACGA AGCCTTTTGTCACCACGGGCCAGGCCACACTTCCCTGGGTGCATCCTCAA AAGACTGCAGAGTGACGACGAAGCCTTCGTGACCACGGGCCGGGCCACAC TTCGCGGGATACGTCCTCAAAAGACCACAGAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0179 a0003c0003t0003g0179	1	378	0.0027	281	c.102 others(300): Show c.1025-2143_1025-2142insGCGGGCTGGGCCACGCTTCGTGGGAT ACGTCCTCAAAAGACCACAGAGTGACGACGAAGCCTTTTGTCACCACGGG CCAGGCCACACTTCCCTGGGTGCATCCTCAAAAGACTGCAGAGTGACGAC GAAGCCTTCGTGACCACGGGCCGGGCCACACTTCGCGGGATACGTCCTCA AAAGACCACAGAATGATGACGAAGCCTTTGTCACCGCGGGCCGGGCCACG CTTCCCTGGGTGCATCCTCAAAAGACTGCAGAGTGACGACGAAGCCTTCG TGACC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK1_chr10_126900428_127457516	127362837	A A	ACACATGC others(274): Show ACACATGCACGTCCCCACACACACACATACACATACACATCCCCCCACAC ACACATACACATGTACATCTCCACACACACACATACACATCCCCACACAC ACATACACATGCACGTCCCCCCACACACATACACATGCACATCCCCACAC ACACACACACACACACACGCGCATCCCCACACACACACACATACACATAC ACATCCCCCACACACACACGCACATCCCGACACACACGTACACATGCACA TCCCCACACACACACACATGCACCTCCCCCCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0130 a0001c0005t0012g0130	1	136	0.0074	281	c.343 others(298): Show c.3432+629_3432+630insTGCACGTCCCCACACACACACATACACA TACACATCCCCCCACACACACATACACATGTACATCTCCACACACACACA TACACATCCCCACACACACATACACATGCACGTCCCCCCACACACATACA CATGCACATCCCCACACACACACACACACACACACGCGCATCCCCACACA CACACACATACACATACACATCCCCCACACACACACGCACATCCCGACAC ACACGTACACATGCACATCCCCACACACACACACATGCACCTCCCCCCCC ACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127362839	A A	ACATGCAC others(274): Show ACATGCACGTCCCCACACACACACATACACATACACATCCCCCCACACAC ACATACACATGTACATCTCCACACACACACATACACATCCCCACACACAC ATACACATGCACGTCCCCCCACACACATACACATGCACATCCCCACACAC ACACACACACACACACACATGCGCATCCCCACACACACACACATACACAT ACACATCCCCCCACACACACGCACATCCCCACACACACGTACACATGCAC ATCCCCACACACACACATGCACCTCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0007 a0007	a0007c0076 a0007c0076	a0007c0076t0004 a0007c0076t0004	a0007c0076t0004g0062 a0007c0076t0004g0062	1	136	0.0074	281	c.343 others(298): Show c.3432+629_3432+630insTGCACGTCCCCACACACACACATACACA TACACATCCCCCCACACACACATACACATGTACATCTCCACACACACACA TACACATCCCCACACACACATACACATGCACGTCCCCCCACACACATACA CATGCACATCCCCACACACACACACACACACACACACATGCGCATCCCCA CACACACACACATACACATACACATCCCCCCACACACACGCACATCCCCA CACACACGTACACATGCACATCCCCACACACACACATGCACCTCCCCCCC CCA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCCCCCC others(274): Show CCCCCCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	356	0.0028	281	c.-24 others(298): Show c.-248+507_-248+508insCCCCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCCCCCC others(274): Show CCCCCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG02056.hp2 others(5): Show HG00438.hp1 HG00544.hp2 HG02056.hp2 HG02155.hp2 NA18981.hp2 NA19003.hp2 NA19075.hp1 NA19081.hp1	a0005 a0013 a0005 a0013	a0005c0005 a0013c0018 a0005c0005 a0013c0018	a0005c0005t0001 a0013c0018t0001 a0005c0005t0001 a0013c0018t0001	a0005c0005t0001g0008 a0005c0005t0001g0206 a0005c0005t0001g0207 others(5): Show a0005c0005t0001g0008 a0005c0005t0001g0206 a0005c0005t0001g0207 a0005c0005t0001g0208 a0005c0005t0001g0209 a0005c0005t0001g0210 a0005c0005t0001g0211 a0013c0018t0001g0205	8	356	0.0225	281	c.-24 others(298): Show c.-248+507_-248+508insCCCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
FAM174B_chr15_92612448_92660775	92631148	T T	TTATATAT others(274): Show TTATATATTACGTATTACGTATTACATATTATATTATATATTACGTATTA CGTATTACATATTATATTATATATTACGTATTACGTATTACATATTATAT TATATATTACGTATTACGTATTACATATTATATTATATATTACGTATTAC GTATTACATATTATATATTATATATTACGTATTACGTATTACATATTATA TATTATATATTACGTATTACGTATTACATATTATATTATATATTATATAT ATTACATATATTATATATTATATTATATATAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0105 a0001c0001t0014g0105	1	394	0.0025	281	c.345 others(296): Show c.345-804_345-803insTTATATATAATATAATATATAATATATGTA ATATATATAATATATAATATAATATGTAATACGTAATACGTAATATATAA TATATAATATGTAATACGTAATACGTAATATATAATATATAATATGTAAT ACGTAATACGTAATATATAATATAATATGTAATACGTAATACGTAATATA TAATATAATATGTAATACGTAATACGTAATATATAATATAATATGTAATA CGTAATACGTAATATATAATATAATATGTAATACGTAATACGTAATATAT A	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(274): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCA CCCCTCCTCCCGCCCCCCTCCAGCCTACCCCCTCCCCCCGCCCACCCCCC TCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGC CCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCT ACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02280.hp1 others(4): Show HG00639.hp1 HG01884.hp2 HG02280.hp1 HG02615.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0000 a0003c0002t0003g0000	7	406	0.0172	281	c.33 others(292): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCCTCC CCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCCTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTC CCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241806645	A A	ACCCTCCC others(274): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAACCCAGGGATGTCTGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	314	0.0032	281	c.24 others(292): Show c.2479_*2480insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCC CTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATG TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2359		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806698	G G	GCCCAGGG others(274): Show GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACG TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC TCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCTCCCCCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	314	0.0032	281	c.25 others(292): Show c.2532_*2533insCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACGTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2412		chr2	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(274): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGAAGG AAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01928.hp2 NA19011.hp2 HG00423.hp1 HG01928.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0002c0002t0026 a0001c0001t0003 a0001c0001t0008 a0002c0002t0026	a0001c0001t0003g0163 a0001c0001t0008g0104 a0002c0002t0026g0113 a0001c0001t0003g0163 a0001c0001t0008g0104 a0002c0002t0026g0113	3	188	0.0160	281	c.229 others(300): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTC CCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCC CCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCC TCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTT CCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTT CCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(274): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0133 a0001c0001t0006g0133	1	188	0.0053	281	c.109 others(302): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPC5_chr13_91393621_92872237	92347919	A A	ACAATATA others(274): Show ACAATATATATATTATATATTATATATATTATATATATAAAATATATAAT ATATAATATATATATTATATATATAATATATATAATATATAATATATATA TAGTATATATAATATATATATTATATATTATATATATTATATATATTATA TATATAATATATAATATATATATTATATATTATATATTATATATATAATA TATATATTATATATTATATATAATATATATAATATATATATTATATATAA TATATAATATATAATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	42	0.0238	281	c.156 others(304): Show c.1561+202930_1561+202931insCAATATATATATTATATATTAT ATATATTATATATATAAAATATATAATATATAATATATATATTATATATA TAATATATATAATATATAATATATATATAGTATATATAATATATATATTA TATATTATATATATTATATATATTATATATATAATATATAATATATATAT TATATATTATATATTATATATATAATATATATATTATATATTATATATAA TATATATAATATATATATTATATATAATATATAATATATAATATATATAA TATATATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7			chr13	TogoVar
GRHL3_chr1_24314357_24360318	24345043	C C	CCTCCACA others(274): Show CCTCCACACCTGTGTCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCC CCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCA CCTCCACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCC CTCCACACCTGTGCCCCCTTTACACCTGTGCCCCTCCACACCTGTGCCCC CTCTACACCTGTGCCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCC CTCCACACCTGTGCCCCCTCCACACCTGTGCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	372	0.0027	281	c.145 others(298): Show c.1454+113_1454+114insTCCACACCTGTGTCCCCTCCACACCTGT GCCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGT GCCCCCTCCACACCTGTGCACCTCCACACCTGTGCCCCTCCACACCTGTG CCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTTTACACCTGTG CCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCCTCCACACCTGTG CCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACACCTGTG CAC	GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GTPBP6_chrX_299759_323796	321333	A A	AAGAAAAG others(274): Show AAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGA CGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGG CAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAGAAAAGCC GGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTG GGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTA AGACCCCATTATCTACAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	155	0.0065	281	c.-25 others(292): Show c.-2547_-2546insCTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTA CCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCA CCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGG CTTTTCTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCC CATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTC CCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTCT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2538		chrX	TogoVar
GTPBP6_chrX_299759_323796	322199	A A	AAAAAAAA others(274): Show AAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGT CCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTT TGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAA AAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGC TCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAG CATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18951.hp2 NA19057.hp2 NA18941.hp1 NA18951.hp2 NA19057.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0011 a0008c0008t0001g0021 a0008c0008t0001g0023 a0008c0008t0001g0011 a0008c0008t0001g0021 a0008c0008t0001g0023	3	155	0.0194	281	c.-34 others(292): Show c.-3413_-3412insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3404		chrX	TogoVar

Search by Variant

Search

Search Results