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
ARHGEF10_chr8_1818926_1963641	1849938	G G	GTGGACAC others(301): Show GTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCTGGCTGCGTGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGA GGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	307	0.0033	308	c.37+ others(323): Show c.37+6545_37+6546insGTGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCTGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAG AGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850026	A A	ATGGACAC others(301): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGA GGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGG GCGGCCACG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0006 a0006	a0006c0099 a0006c0099	a0006c0099t0002 a0006c0099t0002	a0006c0099t0002g0087 a0006c0099t0002g0087	1	209	0.0048	308	c.37+ others(323): Show c.37+6619_37+6620insTGTGGGGCGGCCACGTGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGG CTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGT GGACACAGAGGGCAAATGCTGAGGAGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850152	G G	GGCTGCAT others(301): Show GGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC ATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCCGCGTGGACACAGAGGGCAAATGCTGA GGAGGGTGTGGGGCGGCCGCGTGGACACAGAGGGCAAATGCTGAGGAGGG CATTGGCTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0154 a0001c0154	a0001c0154t0011 a0001c0154t0011	a0001c0154t0011g0241 a0001c0154t0011g0241	1	292	0.0034	308	c.37+ others(323): Show c.37+6718_37+6719insTGCATGGACACAGAGGGCAAATGCTGAGGA GGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGT GGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCG GCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCG TGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCCGCGTGGACA CAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCGCGTGGACACAGAGG GCAAATGCTGAGGAGGGCATTGGCTAGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(301): Show TGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACA CAGAGGGCAAATGCTGAGGAGGGTGTGGGCCGGCTGCATGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAAT GCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAG GAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGC GTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGC TAGCCGCAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0025 a0001c0004t0015g0025	1	263	0.0038	308	c.37+ others(323): Show c.37+6752_37+6753insATTGGCTAGCCGCAGGGACACAGAGGGCAA ATGCTGAGGAGGGTGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTG AGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGG GCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGG GCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGC TGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGG GACACAGAGGGCAAATGCTGAGGAGGGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(301): Show TGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACA CAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGG GCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACACAGAGGGCAAAT GCTGAGGAGGGTGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAG GAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGC GTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCATTGGC TAGCCGCAG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0015 a0002c0025t0015	a0002c0025t0015g0156 a0002c0025t0015g0156	1	263	0.0038	308	c.37+ others(323): Show c.37+6757_37+6758insCCGGCTGCATGGACACAGAGGGCAAATGCT GAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAG GGCATTGGCTAGCCGCAGGGACACAGAGGGCAAATGCTGAGGAGGGTGTG GGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGG CTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGT GGACACAGAGGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACAC AGAGGGCAAATGCTGAGGAGGGCGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850159	T T	TGGACACA others(301): Show TGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACA CAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGG GCAAATGCTGAGGAGGGCGTGGGGCGGCCACATGGGCATGGACGGCAAAT GCTAAGGAGGGCGTGGGGCAGTCGCGTGGACACAGACGGCAAATGCTGAG GAGGGTGTGGGGCGGCCACATGGGCATGGATGGCAAATGCTAAGGAGGGC GTGGGGCAGTCGCGTGGACACAGACGGCAAATGCTGAGGAGGGCATTGGC TAGCCGCAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	263	0.0038	308	c.37+ others(323): Show c.37+6757_37+6758insCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGGCGGCCACATGGGCATGGACGGCAAATGCTAAGGAGGGCGTG GGGCAGTCGCGTGGACACAGACGGCAAATGCTGAGGAGGGTGTGGGGCGG CCACATGGGCATGGATGGCAAATGCTAAGGAGGGCGTGGGGCAGTCGCGT GGACACAGACGGCAAATGCTGAGGAGGGCATTGGCTAGCCGCAGGGACAC AGAGGGCAAATGCTGAGGAGGGCGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850188	C C	CGTGGGCC others(301): Show CGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGCGTGGGGCGACCATGTGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0218 a0001c0014t0002g0218	1	330	0.0030	308	c.37+ others(323): Show c.37+6757_37+6758insCCGGCTGCGTGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGG CTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGGCGACCATGT GGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACAC AGAGGGCAAATGCTGAGGAGGGTGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF28_chr5_73621196_73946990	73850085	T T	TGTTATTT others(301): Show TGTTATTTTGCATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGGGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTCAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18988.hp2 NA18978.hp1 NA18988.hp2	a0005 a0035 a0005 a0035	a0005c0024 a0035c0035 a0005c0024 a0035c0035	a0005c0024t0001 a0035c0035t0001 a0005c0024t0001 a0035c0035t0001	a0005c0024t0001g0054 a0035c0035t0001g0068 a0005c0024t0001g0054 a0035c0035t0001g0068	2	157	0.0127	308	c.174 others(327): Show c.1747+1014_1747+1015insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGGGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTCAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGTTATTTTGCATTTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	13/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(301): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTC CCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	72	0.0139	308	c.102 others(325): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCC CTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(301): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCGCTCCCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCTCTCCCTCTTCCCCTCTC CCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	72	0.0139	308	c.102 others(325): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCGCTCCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC CCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(301): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTC CCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	72	0.0139	308	c.102 others(325): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCGCTCCCCCTCC CCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASB16_chr17_44165704_44184084	44181119	C C	CGCCCGGC others(301): Show CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	138	0.0072	308	c.27 others(319): Show c.2729_*2730insGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCC AGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCT	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding		2036		chr17	TogoVar
ASB16_chr17_44165704_44184084	44181119	C C	CGCCCGGC others(301): Show CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG01934.hp2 others(4): Show HG01192.hp2 HG01243.hp1 HG01934.hp2 HG02055.hp2 HG02132.hp2 NA18980.hp1 NA18986.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0017 a0003c0003t0001g0030 others(3): Show a0003c0003t0001g0009 a0003c0003t0001g0017 a0003c0003t0001g0030 a0003c0003t0001g0064 a0003c0003t0001g0090 a0003c0003t0001g0094	7	144	0.0486	308	c.27 others(319): Show c.2729_*2730insGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCC AGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCT	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding		2036		chr17	TogoVar
ASPG_chr14_104080700_104120582	104085481	G G	GCACCCCG others(301): Show GCACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCCGCCCCCACCCC GCCAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCC CGCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCC GGGCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCC GCCCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAACCCGCCCCCGC CCCCCCGCCAGGCCCCGCCCCGCCCCCGCCAGGCCCCGCCCCCCGCCAGG CCCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0095 a0003c0004t0003g0095	1	363	0.0028	308	c.-29 others(317): Show c.-290_-289insCACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCC CCGCCCCCACCCCGCCAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCC CCGGGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGC CTCCCACCCTCCCGGGCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCC CCCGCCAGGCCCCGCCCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCAT AACCCGCCCCCGCCCCCCCGCCAGGCCCCGCCCCGCCCCCGCCAGGCCCC GCCCCCCGCCAGGCCCCGCCCC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		218		chr14	TogoVar
ASXL2_chr2_25728753_25883487	25789269	T T	TAAGAATC others(301): Show TAAGAATCTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp1 HG03225.hp2 HG02572.hp1 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0002 a0001c0001t0017g0004 a0001c0001t0017g0005 a0001c0001t0016g0002 a0001c0001t0017g0004 a0001c0001t0017g0005	3	217	0.0138	308	c.403 others(327): Show c.403+10115_403+10116insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTCAGATTCTT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12			chr2	TogoVar
ATP10A_chr15_25673712_25868327	25757844	C C	CCACCTGC others(301): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACT CATTCCGAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0022 a0001c0009t0001g0022	1	290	0.0034	308	c.655 others(327): Show c.655-21704_655-21703insATCGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758817	C C	CGACCACC others(301): Show CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCAC CCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTA ACTCATTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0018 a0018	a0018c0077 a0018c0077	a0018c0077t0001 a0018c0077t0001	a0018c0077t0001g0181 a0018c0077t0001g0181	1	294	0.0034	308	c.654 others(327): Show c.654+22201_654+22202insAGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGG AATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10D_chr4_47480275_47598486	47494500	T T	TAAAGTTA others(301): Show TAAAGTTAGATTATCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGC GGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0040 a0040	a0040c0053 a0040c0053	a0040c0053t0001 a0040c0053t0001	a0040c0053t0001g0173 a0040c0053t0001g0173	1	256	0.0039	308	c.-38 others(325): Show c.-38+8993_-38+8994insTCACGCCTGTAGTCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTA ACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAGTTAGATTA	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCCAC others(301): Show TCCCCCACCTCCCCCCCACCCCCCCCCCACCTCCCCCACCCCCCCACCCC CCACCTCCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCA CCTCCCCCCACCCCCACCACCCCCCCTCCCCCCACCCCCCACCCACCTCC CCCCACCCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCC CCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCC CCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0140 a0001c0009t0004g0140	1	5	0.2000	308	c.39+ others(325): Show c.39+32834_39+32835insCACCTCCCCCCCACCCCCCCCCCACCTC CCCCACCCCCCCACCCCCCACCTCCCCCCACCTCCCCCCACCCCCCACCT CCCCCCACCCCCACCCACCTCCCCCCACCCCCACCACCCCCCCTCCCCCC ACCCCCCACCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCCACCT CCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTC CCCCCACCCCCCACCTCCCCCCACCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79327515	G G	GTTAGCGT others(301): Show GTTAGCGTGTTCTCCGTGGTTAACGTGCCCTCCGTGGTTAACGTGCTCTC CGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGC CCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGC ATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGT TAGTGTGCTCTCTCCATGGTTAGCGTGTTCTCCGTGGTTAACGTGCCCTC CGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGC TCTCCGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG02922.hp1 others(1): Show HG01243.hp1 HG02723.hp2 HG02922.hp1 NA19030.hp1	a0003 a0010 a0003 a0010	a0003c0007 a0003c0021 a0010c0029 a0003c0007 a0003c0021 a0010c0029	a0003c0007t0004 a0003c0021t0004 a0010c0029t0004 a0003c0007t0004 a0003c0021t0004 a0010c0029t0004	a0003c0007t0004g0278 a0003c0007t0004g0289 a0003c0021t0004g0285 others(1): Show a0003c0007t0004g0278 a0003c0007t0004g0289 a0003c0021t0004g0285 a0010c0029t0004g0220	4	292	0.0137	308	c.177 others(327): Show c.1774-1618_1774-1617insTTCTCCGTGGTTAACGTGCCCTCCGT GGTTAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCT CCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTG CTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAG CGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGTTCTCCGT GGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCCT CCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AUH_chr9_91208823_91366918	91318187	T T	TAAAAGTA others(301): Show TAAAAGTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18982.hp1 NA19002.hp1 others(3): Show HG02132.hp1 NA18982.hp1 NA19002.hp1 NA19074.hp2 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040	6	356	0.0169	308	c.505 others(325): Show c.505+7130_505+7131insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTACTTTT	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	4/9			chr9	TogoVar
B4GALNT3_chr12_454939_568509	545902	T T	TGAGAGGA others(301): Show TGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGA GGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGG AGGTGAGAGGAGTGGGGAGGTGAGAGGAATGGGGAGGTGAGAGGAGTGGG GAGGTGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGAGAGGAGTGG GGAGGTGAGAGGAATGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTG GGGAGGTGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0022 a0022	a0022c0037 a0022c0037	a0022c0037t0002 a0022c0037t0002	a0022c0037t0002g0227 a0022c0037t0002g0227	1	41	0.0244	308	c.639 others(323): Show c.639+436_639+437insAGGAGTGGGGAGATGAGAGGAGTGGGGAGG TGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGA GGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAATGGGG AGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGATGAGAGGAGTGGG GAGGTGAGAGGAGTGGGGAGGTGAGAGGAATGGGGAGGTGAGAGGAGTGG GGAGGTGAGAGGAGTGGGGAGGTGAGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(301): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	109	0.0092	308	c.784 others(323): Show c.784-574_784-573insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(301): Show GAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0001 a0002c0035t0001	a0002c0035t0001g0071 a0002c0035t0001g0071	1	109	0.0092	308	c.784 others(323): Show c.784-574_784-573insAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(301): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGG GGGGATGGGGATGGGGGAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGG AGGGAGATGGACTGGGGAGGAGGGGGGATGGACTGGGGAGGAGGTGGATG GACTGGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0085 a0001c0007t0003g0085	1	2	0.5000	308	c.51+ others(321): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTCCCCCATCCCCATCCCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCC CCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BPIFB1_chr20_33278214_33314871	33285423	G G	GCTAGGCC others(301): Show GCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AGAAAATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18522.hp1 HG02572.hp2 NA18522.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0043 a0007c0006t0001g0043	2	365	0.0055	308	c.-41 others(323): Show c.-41-607_-41-606insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAGAAAATATCTA	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
BRINP3_chr1_190092658_190482864	190437073	C C	CTGGCTAC others(301): Show CTGGCTACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCGGGATGGTCTCGATCTCCCGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	237	0.0042	308	c.236 others(327): Show c.236+17581_236+17582insCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCGGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGAAGTAGCCA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(301): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0245 a0001c0002t0003g0245	1	312	0.0032	308	c.-42 others(319): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT TAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C1QTNF8_chr16_1083226_1101244	1092754	A A	AGCACACA others(301): Show AGCACACAGTCGGCACTCAACCAATCCCTGCACACAGTCGGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGC TCAACCAATCCCTGCACACAGTCGGCGCTCAACAAATCACTGCACACAGT CGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCCCTGCA CACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACCAATC ACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGCTCAA CAAATCACT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01175.hp1 others(29): Show HG00642.hp1 HG00733.hp2 HG01175.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG03669.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 others(2): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0001t0029 a0001c0001t0054	a0001c0001t0005g0004 a0001c0001t0005g0063 a0001c0001t0005g0104 others(7): Show a0001c0001t0005g0004 a0001c0001t0005g0063 a0001c0001t0005g0104 a0001c0001t0005g0106 a0001c0001t0005g0116 a0001c0001t0016g0035 a0001c0001t0016g0115 a0001c0001t0017g0023 a0001c0001t0029g0054 a0001c0001t0054g0111	32	392	0.0816	308	c.4+ others(321): Show c.4+742_*4+743insAGTGATTTGTTGAGCGCCGACTGTGTGCAGTG ATTGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACTGTGT GCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTTGTTGAG CGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTG ATTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAG GGATTGGTTGAGTGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(301): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG01258.hp2 others(3): Show HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0038 a0001c0001t0004 a0001c0001t0014 a0001c0001t0038	a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0014g0019 others(1): Show a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0014g0019 a0001c0001t0038g0070	6	68	0.0882	308	c.4+ others(321): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGATTG GTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGACTGTGTGCAC GGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(301): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCGGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGC TCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGT CGGCGCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATC CCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAA CAAATCACA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0031 a0005c0009t0031	a0005c0009t0031g0055 a0005c0009t0031g0055	1	63	0.0159	308	c.4+ others(321): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGATTG GTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCAC GGATTGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C2CD4C_chr19_400445_414147	411041	C C	CGCCCCTG others(301): Show CGCCCCTGCTGGGCCCGAGCCGGGAGGAGGGTCCTGGGGATCTGTCCACC GCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGC ACGGATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGG GTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGT CTGTCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0037 a0001c0002t0028g0037	2	314	0.0064	308	c.-20 others(319): Show c.-2077_-2076insAGTGGACAGACCCCCAGGATCCGTGCCCAGTAGG GGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGA CCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGG CGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGACCCTCC TCCCGGCTCGGGCCCAGCAGGGGC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1895		chr19	TogoVar
C2CD4C_chr19_400445_414147	411055	C C	CCGGATCC others(301): Show CCGGATCCTGGGGGTCTGTCCACCACCCCTGCTGGGCCTGAGGCGGGAGA AGGGTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCC CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACG GATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCCC TGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0078 a0001c0001t0098g0078	1	244	0.0041	308	c.-20 others(319): Show c.-2091_-2090insTGCCCAGCAGGGACGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGACCCTTCTCCCGCCTCAGGCCCAGCAGGGG TGGTGGACAGACCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1909		chr19	TogoVar
C2orf80_chr2_208160347_208195030	208176973	A A	ATCTGTAT others(301): Show ATCTGTATACATATGTGTATACAGATCTGTATACATATGTATACAGATCT GTATACATATGTGTATACATATCTGTATACATATGTGTATACAGATCTGT ATACATATGTGTATACATATCTGTATACATATGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATATGTATACAG ATCTGTATACATATGTATACATATCTGTATACATATGTATACAGATCTGT ATACATATG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	283	0.0035	308	c.366 others(325): Show c.366+3771_366+3772insCATATGTATACAGATCTGTATACATATG TATACAGATATGTATACATATGTATACAGATCTGTATACATATGTATACA GATATGTATACATATGTATACAGATATGTATACATATGTATACAGATATG TATACATATGTATACAGATATGTATACATATGTATACAGATATGTATACA TATGTATACAGATATGTATACACATATGTATACAGATCTGTATACACATA TGTATACAGATATGTATACACATATGTATACAGATCTGTATACATATGTA TACAGATCTGTATACACATATGTATACAGA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C8A_chr1_56849797_56923223	56885370	T T	TTATATTT others(301): Show TTATATTTATTTAAATATATATTTACATAAATATATATTTATTTAAATAT ATATTTACATAAATATATATTTATTTAAATATATATTTACATAAATATAT ATTTATTTAAATATATATTTACATAAATATATATTTATGTAAATATATAT TTATATTTATTTAAATATATATTTACATAAATATATATTTATTTAAATAT ATATTTACATAAATATATATTTATTTAAATATATATTTACATAAATATAT TTATTTAAATATATATTTACATAAATATATATTTATTTAAATATATATTT ACATAAATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	326	0.0031	308	c.856 others(323): Show c.856-533_856-532insCATAAATATATATTTATTTAAATATATATT TACATAAATATATATTTATTTAAATATATATTTACATAAATATATATTTA TTTAAATATATATTTACATAAATATATATTTATGTAAATATATATTTATA TTTATTTAAATATATATTTACATAAATATATATTTATTTAAATATATATT TACATAAATATATATTTATTTAAATATATATTTACATAAATATATTTATT TAAATATATATTTACATAAATATATATTTATTTAAATATATATTTACATA AATATATATTTATTTAAATATATATTTA	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1191190	C C	CTCTGACC others(301): Show CTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGG TCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGG GTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTC GGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACA CTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCAC ACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCA CACTCGGGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02809.hp2 HG02922.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0200 a0002c0011t0002g0202 a0002c0011t0002g0200 a0002c0011t0002g0202	2	322	0.0062	308	c.300 others(325): Show c.300-3779_300-3778insGACCCAGCAGGCTGGCCTGGCTGTGTGG CCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTG GCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGT GTGGCCTCAGGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGC TGTGTGGCCTCCGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGG CTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTG GCTGTGTGGCCTCAGGCACACTCGGGGTCT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCTTCC others(301): Show CTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTC TCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTCCT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0183 a0001c0002t0004g0183	1	22	0.0455	308	c.482 others(325): Show c.482+1379_482+1380insCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCC CTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCC TCCCTCCCTCCCTCCTTCCTTCCTTCCTTC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCTTCC others(301): Show CTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0222 a0001c0002t0003g0222	1	22	0.0455	308	c.482 others(325): Show c.482+1379_482+1380insCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCC CTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCCTTCCTTC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(301): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18989.hp2 HG03704.hp2 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0009 a0001c0001t0002 a0002c0003t0009	a0001c0001t0002g0170 a0002c0003t0009g0239 a0001c0001t0002g0170 a0002c0003t0009g0239	2	63	0.0317	308	c.100 others(327): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CALN1_chr7_71774491_72417338	72209270	C C	CTCCTTCC others(301): Show CTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCGTCC TTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCTTTCCTT CCCTCCTTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCC TTCCCTCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0135 a0001c0001t0053g0135	1	138	0.0072	308	c.244 others(327): Show c.244+69415_244+69416insAAGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAA GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGG GAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGAGGGAAGGACGGAAGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMTA1_chr1_6780454_7774706	7500275	C C	CGTGCGTA others(301): Show CGTGCGTATGTATATGAGTGTGTGTGTGCATGTGTGTCCGTGAGTGAGTG TGTAGAGAGGATGGTGTGAGCCTGGTGTGCGTGTGTATGTATATGAGTGT ATGTGTGTTCATGAGTGAGTGTGTAGAGAGGATTGTGTGAGCCTGGTGTG CGTGTGTATGTATATGGGTGTGTGTGTGCATGTGTGTCCGTGAGTGAGTG TGTAGAGAGGATGGTGTGAGCCTGGTGTGCGTGCGCATGTATATGAGTGT GTGTGTGCATGTGTGTCCGTGAGTGAGTGTGTAGAGAGGATGGTGTGAGC CTGGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	55	0.0182	308	c.510 others(327): Show c.510+32378_510+32379insGTATGTATATGAGTGTGTGTGTGCAT GTGTGTCCGTGAGTGAGTGTGTAGAGAGGATGGTGTGAGCCTGGTGTGCG TGTGTATGTATATGAGTGTATGTGTGTTCATGAGTGAGTGTGTAGAGAGG ATTGTGTGAGCCTGGTGTGCGTGTGTATGTATATGGGTGTGTGTGTGCAT GTGTGTCCGTGAGTGAGTGTGTAGAGAGGATGGTGTGAGCCTGGTGTGCG TGCGCATGTATATGAGTGTGTGTGTGCATGTGTGTCCGTGAGTGAGTGTG TAGAGAGGATGGTGTGAGCCTGGTGTGTGTGC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7574105	A A	AGCTTCCA others(301): Show AGCTTCCAGGTAGATGTGAATTTTGTAAAGACACTGTTTAGCCTAGAATA CCAGCTAAGTGGTAAACCCTGCGTCCCTGTGAGCTGAGACCTCCTCTGGG GAAGAGGAGAGCTGAAGGGAAGCTATTTGGAGAGGGAACTTGCACTGTGA GGCAAGGGATTGCCCATGGGACAGGAGGCCACGTGGTTCCAGCACCTTCA GTGGATGAGCTACTGGTGTGGTCGCCCCCCCTCATCCCCACGGACTGGGA TCCTGTCCAGGAAGCCTGAGAGCCTTTCCAGGGCAGGAGCCAGGCTGACC ATCACCAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02451.hp1 others(6): Show HG01884.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02630.hp2 HG02647.hp1 HG03041.hp2 HG03486.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0001c0017 a0006c0013	a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 others(4): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0002t0003 a0001c0015t0006 a0001c0017t0026 a0006c0013t0009	a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0012g0019 others(6): Show a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0012g0019 a0001c0001t0012g0051 a0001c0001t0013g0056 a0001c0002t0003g0025 a0001c0015t0006g0043 a0001c0017t0026g0027 a0006c0013t0009g0033	9	41	0.2195	308	c.511 others(327): Show c.511-66293_511-66292insTTCCAGGTAGATGTGAATTTTGTAAA GACACTGTTTAGCCTAGAATACCAGCTAAGTGGTAAACCCTGCGTCCCTG TGAGCTGAGACCTCCTCTGGGGAAGAGGAGAGCTGAAGGGAAGCTATTTG GAGAGGGAACTTGCACTGTGAGGCAAGGGATTGCCCATGGGACAGGAGGC CACGTGGTTCCAGCACCTTCAGTGGATGAGCTACTGGTGTGGTCGCCCCC CCTCATCCCCACGGACTGGGATCCTGTCCAGGAAGCCTGAGAGCCTTTCC AGGGCAGGAGCCAGGCTGACCATCACCAGGGC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7574105	A A	AGCTTCCA others(301): Show AGCTTCCAGGTAGATGTGAATTTTGTAAAGACACTGTTTAGCCTAGAATA CCAGCTAAGTGGTAACCCCTGCGTCCCTGTGAGCTGAGACCTCCTCTGGG GAAGAGGAGAGCTGAAGGGAAGCTATTTGGAGAGGGAACTTGCACTGTGA GGCAAGGGATTGCCCATGGGACAGGAGGCCACGTGGTTCCAGCACCTTCA GTGGATGAGCTACTGGTGTGGTCGCCCCACCTCATCCCCACGGACTGGGA TCCTGTCCAGGAAGCCTGAGAGCCTTTCCAGGGCAGGAGCCAGGCTGACC ATCACCAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02132.hp1 others(3): Show HG01884.hp2 HG02055.hp1 HG02132.hp1 HG02622.hp1 HG02723.hp2 HG03130.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0004c0012	a0001c0001t0002 a0001c0002t0003 a0001c0003t0001 others(3): Show a0001c0001t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0023 a0001c0006t0001 a0004c0012t0022	a0001c0001t0002g0001 a0001c0002t0003g0007 a0001c0003t0001g0012 others(3): Show a0001c0001t0002g0001 a0001c0002t0003g0007 a0001c0003t0001g0012 a0001c0003t0023g0045 a0001c0006t0001g0055 a0004c0012t0022g0017	6	38	0.1579	308	c.511 others(327): Show c.511-66293_511-66292insTTCCAGGTAGATGTGAATTTTGTAAA GACACTGTTTAGCCTAGAATACCAGCTAAGTGGTAACCCCTGCGTCCCTG TGAGCTGAGACCTCCTCTGGGGAAGAGGAGAGCTGAAGGGAAGCTATTTG GAGAGGGAACTTGCACTGTGAGGCAAGGGATTGCCCATGGGACAGGAGGC CACGTGGTTCCAGCACCTTCAGTGGATGAGCTACTGGTGTGGTCGCCCCA CCTCATCCCCACGGACTGGGATCCTGTCCAGGAAGCCTGAGAGCCTTTCC AGGGCAGGAGCCAGGCTGACCATCACCAGGGC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7574105	A A	AGCTTCCA others(301): Show AGCTTCCAGGTAGATGTGAATTTTGTAAAGACACTGTTTAGCCTAGAATA CCAGCTAAGTGGTAACCCCTGCGTCCCTGTGAGCTGAGACCTCCTCTGGG GAAGAGGAGAGCTGAAGGGAAGCTATTTGGAGAGGGAACTTGCACTGTGA GGCAAGGGATTGCCCATGGGACAGGAGGCCACGTGGTTCCAGCACCTTCA GTGGATGAGCTACTGGTGTGGTCGCCCCCCCTCATCCCCACGGACTGGGA TCCTGTCCAGGAAGCCTGAGAGCCTTTCCAGGGCAGGAGCCAGGCTGACC ATCACCAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp2 HG03130.hp1 others(7): Show HG01243.hp1 HG02922.hp2 HG03130.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0001c0002t0004 a0001c0003t0010 a0001c0006t0005	a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0036 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0036 a0001c0001t0002g0046 a0001c0001t0005g0038 a0001c0001t0011g0058 a0001c0002t0001g0020 a0001c0002t0004g0030 a0001c0003t0010g0035 a0001c0006t0005g0057	10	42	0.2381	308	c.511 others(327): Show c.511-66293_511-66292insTTCCAGGTAGATGTGAATTTTGTAAA GACACTGTTTAGCCTAGAATACCAGCTAAGTGGTAACCCCTGCGTCCCTG TGAGCTGAGACCTCCTCTGGGGAAGAGGAGAGCTGAAGGGAAGCTATTTG GAGAGGGAACTTGCACTGTGAGGCAAGGGATTGCCCATGGGACAGGAGGC CACGTGGTTCCAGCACCTTCAGTGGATGAGCTACTGGTGTGGTCGCCCCC CCTCATCCCCACGGACTGGGATCCTGTCCAGGAAGCCTGAGAGCCTTTCC AGGGCAGGAGCCAGGCTGACCATCACCAGGGC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7574105	A A	AGCTTCCA others(301): Show AGCTTCCAGGTAGATGTGAATTTTGTAAAGACACTGTTTAGCCTGGAATA CCAGCTAAGTGGTAACCCCTGCGTCCCTGTGAGCTGAGACCTCCTCTGGG GAAGAGGAGAGCTGAAGGGAAGCTATTTGGAGAGGGAACTTGCACTGTGA GGCAAGGGATTGCCCATGGGACAGGAGGCCACGTGGTTCCAGCACCTTCA GTGGATGAGCTACTGGTGTGGTCGCCCCCCCTCATCCCCACGGACTGGGA TCCTGTCCAGGAAGCCTGAGAGCCTTTCCAGGGCAGGAGCCAGGCTGACC ATCACCAGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0024 a0001c0016t0024	a0001c0016t0024g0053 a0001c0016t0024g0053	1	33	0.0303	308	c.511 others(327): Show c.511-66293_511-66292insTTCCAGGTAGATGTGAATTTTGTAAA GACACTGTTTAGCCTGGAATACCAGCTAAGTGGTAACCCCTGCGTCCCTG TGAGCTGAGACCTCCTCTGGGGAAGAGGAGAGCTGAAGGGAAGCTATTTG GAGAGGGAACTTGCACTGTGAGGCAAGGGATTGCCCATGGGACAGGAGGC CACGTGGTTCCAGCACCTTCAGTGGATGAGCTACTGGTGTGGTCGCCCCC CCTCATCCCCACGGACTGGGATCCTGTCCAGGAAGCCTGAGAGCCTTTCC AGGGCAGGAGCCAGGCTGACCATCACCAGGGC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP1_chr1_40035729_40077648	40059014	T T	TTGCAAAT others(301): Show TTGCAAATTCTAACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTA CAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG04184.hp1 NA18940.hp1 others(2): Show HG01175.hp1 HG04184.hp1 NA18940.hp1 NA18947.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0190 a0001c0001t0003g0201 a0001c0001t0003g0209 others(2): Show a0001c0001t0003g0190 a0001c0001t0003g0201 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0018g0225	5	306	0.0163	308	c.-10 others(323): Show c.-10-305_-10-304insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACT ACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGG CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTGCAAATTCTAACTTTCT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(301): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGAGGAG GGAGAGAGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGGGGAGGGA GAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGAGAAGGGG GGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0067 a0004c0030t0001g0067	1	5	0.2000	308	c.286 others(325): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCTCTCTCCCTCCTCCCCTCCTCTTTCT CTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTCTCTCCCTC CCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCCCCAGTCTC TCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCCTCTTTCC CTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491621	A A	AGGGGGAG others(301): Show AGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAGGAGACAGGGAAAGGAA GGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGGGGAGGGAGAGAGGTGG GAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGAGAAGGAGGGGGTAGG GAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGGGAGGAGGGAGAGAGGG GGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGGGAGGGAGAGAGAGGG GGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGAGAAGGGGGGAGGGAGA AGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18947.hp2 HG00423.hp2 NA18947.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0077 a0002c0001t0001g0078	2	273	0.0073	308	c.286 others(325): Show c.2864+133_2864+134insCCTCCCCCTTCTCCCTCCCCCCTTCTCC CTACCCCTTCTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCC CTCCTTCTCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCT CCCCCCTCCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAA CCCCTCTCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCC CCTCCCCCCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTC CCCTCCCCCTCTTTCCCTTCCCCCTCCCCC	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CASZ1_chr1_10631604_10801646	10744731	C C	CACCACGA others(301): Show CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCA CCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACC ACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCAC GAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGA GCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGC AGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAG GCATGTCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03688.hp1 NA20300.hp1 HG00558.hp2 HG03688.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0024 a0001c0001t0001 a0001c0002t0024	a0001c0001t0001g0104 a0001c0001t0001g0171 a0001c0002t0024g0137 a0001c0001t0001g0104 a0001c0001t0001g0171 a0001c0002t0024g0137	3	188	0.0160	308	c.-77 others(327): Show c.-77+15969_-77+15970insAGGACATGCCTGCTCGTGGTGCCCAG GACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGA CATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACA TGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATG CCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCC TGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTG CTCGTGGTGCCCAGGACATGCCTGCTCGTGGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88975168	T T	TCTCTGCT others(301): Show TCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGC TCTGACCTCCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGA CCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGACCTGCAG CCATATCAAAGGGCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATG TCAGAGGTCCACCCTGACCCTCTCTGCTCCACATCTTTAGCCATGTCAGA GGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCC ACCCTGATC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	236	0.0042	308	c.151 others(325): Show c.151+1488_151+1489insGATCAGGGTGGACCTCTGACATGGCTGC AGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTAAAGATG TGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAG CAGAGAGGGTCAGGGTGGCCCTTTGATATGGCTGCAGGTCAGGAGCAGAG GGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCA GGGTGGACCTCTGACATGGCTGGAGGTCAGAGCAGAGGATCAGGGTGGAC CTCTGACATGGCTGCAGGTCAGGAGCAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar

Search by Variant

Search

Search Results