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
BDH1_chr3_197504783_197560968	197518625	C C	CCCTCAGG others(210): Show CCCTCAGGCCGACCCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCAT CTCCCCCTCAGGCTGACCCCCCCCAATCAGTCACTTCCTGCTCTATGGTC TCCATCTCCCCCTCAGGCTGACCCCCCCCATCAGTCACTTCCTGCTCTAT GGTCTCCATCCCCCCTCAGGCCGACCCCCCCCCATCAGTCACTTCCTGCT CTATGGACTCCATCCCCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0009 a0001c0001t0040g0009	1	319	0.0031	217	c.409 others(234): Show c.409+4014_409+4015insAGGGGATGGAGTCCATAGAGCAGGAAGT GACTGATGGGGGGGGGTCGGCCTGAGGGGGGATGGAGACCATAGAGCAGG AAGTGACTGATGGGGGGGGTCAGCCTGAGGGGGAGATGGAGACCATAGAG CAGGAAGTGACTGATTGGGGGGGGTCAGCCTGAGGGGGAGATGGAGACCA TAGAGCAGGAAGTGACTGATGGGGGGGGTCGGCCTGAGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(210): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA20752.hp1 HG01257.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0302 a0001c0001t0002g0286 a0001c0001t0002g0302	2	330	0.0061	217	c.431 others(234): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD2_chr19_1980448_2020714	2015741	A A	AAGGAGGG others(210): Show AAGGAGGGAGGGGAGGAGGGAAGGAGGGAGGGGAAAGGAGGAGAGTAGGG GGAGGAGGGGGAGGAGGGAGGGGAGGGGAAAAGAGGAGGGAGGGGAAAGG AGGGGAGGAGGGAGGGGAGGGGAAGCGGGAAGGAGGGAGGGGAGGAGAGG GAGGGGAAAGGAGGGGGAAGGAGGGAGGGGAGGAGAGGGAGGGGAAAGGA GGGGGAAGGAGGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA18982.hp2 HG02056.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0234 a0001c0003t0001g0231 a0001c0001t0001g0234 a0001c0003t0001g0231	2	364	0.0055	217	c.-25 others(225): Show c.-255_-39dupCCCCTCCCTCCTTCCCCCTCCTTTCCCCTCCCTCTCC TCCCCTCCCTCCTTCCCCCTCCTTTCCCCTCCCTCTCCTCCCCTCCCTCC TTCCCGCTTCCCCTCCCCTCCCTCCTCCCCTCCTTTCCCCTCCCTCCTCT TTTCCCCTCCCCTCCCTCCTCCCCCTCCTCCCCCTACTCTCCTCCTTTCC CCTCCCTCCTTCCCTCCTCCCCTCCCTCCT	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		28		chr19	TogoVar
C2CD3_chr11_74007718_74176002	74140052	G G	GAGGATTG others(210): Show GAGGATTGTAAGGAATGTCCCCCATTCCCTACAGGATTGTAAGGAATGTC CCCCATTCCCTACAGGATTGTAAGGAATGTCCCCCATTCCCTACAGGATT GTAAGGAATGTCCCCCATTCCCTACAGGATTGTAAGGAATGTCCCCCATT CCCTACAGGATTGTAAGGAATGTCCCCCATTCCCTACAGGATTGTAAGGA ATGTCCCCCATTCCCTAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG03130.hp1 HG01884.hp2 HG02486.hp2 HG03130.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0001 a0011c0015t0001g0223 a0011c0015t0001g0001 a0011c0015t0001g0223	3	318	0.0094	217	c.484 others(232): Show c.484-225_484-224insGTAGGGAATGGGGGACATTCCTTACAATCC TGTAGGGAATGGGGGACATTCCTTACAATCCTGTAGGGAATGGGGGACAT TCCTTACAATCCTGTAGGGAATGGGGGACATTCCTTACAATCCTGTAGGG AATGGGGGACATTCCTTACAATCCTGTAGGGAATGGGGGACATTCCTTAC AATCCTGTAGGGAATGGGGGACATTCCTTACAATCCT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(210): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCGCCG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 HG03139.hp2 HG03516.hp1	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0001 a0019c0020t0001	a0019c0020t0001g0025 a0019c0020t0001g0026 a0019c0020t0001g0025 a0019c0020t0001g0026	2	326	0.0061	217	c.145 others(234): Show c.145-7382_145-7381insTGGGGGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCGCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CALN1_chr7_71774491_72417338	72106743	A A	AGGGAGGA others(210): Show AGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAG GGAGGGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGGGAGGAAGGGAGGGAGGGGAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGGGAGGAAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	142	0.0070	217	c.245 others(232): Show c.245-450_245-449insCTCCCTCCCTTCCTCCCCTCCCTCCCTTCC TTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTTCCTCCCCTCCCTCCCTTCCTCCCCTCCCTCCCTTCCTT CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCCTCCCTCCCTTCCTTC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44588281	G G	GCCAGCCG others(210): Show GCCAGCCGCCCCGTCCGGGAGTGGGGGTCAGCCCCCTGCCCGGCCAGCCA CCCCGTTCGGGACGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCGGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACCGGGAAG TGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GTCAGCCCCCCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02559.hp2 HG02895.hp1 others(2): Show HG01099.hp1 HG02559.hp2 HG02895.hp1 HG02976.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0144 a0001c0001t0003g0038 a0001c0001t0003g0121 others(2): Show a0001c0001t0001g0144 a0001c0001t0003g0038 a0001c0001t0003g0121 a0001c0001t0003g0142 a0001c0001t0004g0034	5	198	0.0253	217	c.377 others(238): Show c.377-116001_377-116000insCAGCCGCCCCGTCCGGGAGTGGGG GTCAGCCCCCTGCCCGGCCAGCCACCCCGTTCGGGACGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACCGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(210): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGGTC CCGACGGGGCCGTGTTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGG GGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGC CCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGG CGGCCCGGGGTCCCGACG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0297 a0001c0002t0002g0297	1	410	0.0024	217	c.-13 others(234): Show c.-137+226_-137+227insGTCCCGACGGGGCCGTGTTCCTGTCGTG GGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGT CGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTC CTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGT GGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(210): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGA GAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGA AGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	364	0.0028	217	c.234 others(234): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAGGAA others(210): Show AAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGA AGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	364	0.0028	217	c.234 others(234): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761464	G G	GGGAAGGG others(210): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAG GAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGA AGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	364	0.0028	217	c.234 others(234): Show c.234+6843_234+6844insTCTCCTTCTCCTTCTCCTTCTCCTTCTT CTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88975112	G G	GCCACCCT others(210): Show GCCACCCTGGCCCTCTGCTCCTGACCTGCAGCCATATCAAAGGGCCACCC TGACCCTCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGACC CTCTGCTCCTCACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCT CCTGACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTCACC TGCAGCCATGTCAGAGGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	284	0.0035	217	c.151 others(234): Show c.151+1544_151+1545insACCTCTGACATGGCTGCAGGTGAGGAGC AGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGAT CAGGGTGGACCTCTGACATGGCTGCAGGTGAGGAGCAGAGGGTCAGGGTG GACCTCTGACATGGCTAAAGATGTGGAGCAGAGAGGGTCAGGGTGGCCCT TTGATATGGCTGCAGGTCAGGAGCAGAGGGCCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(210): Show TCCACCCTGACCCTCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCAC CCTGATCCTCTGCTCCTCACCTGCAGCCATGTCAGAGGCCCGCCCTGACC CTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCT CCACATCTTTAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGACC TGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	284	0.0035	217	c.151 others(234): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTCAGGAGC AGAGGGCCAGGGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGGAT CAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGGTCAGGGCG GGCCTCTGACATGGCTGCAGGTGAGGAGCAGAGGATCAGGGTGGACCTCT GACATGGCTAAAGATGTGGAGCAGAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(210): Show TCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCAC CCTGATCCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGACC CTCTGCTCCTCACCTGCAGCCATGTCAGAGGCCCGCCCTGGCCCTCTGCT CCTGACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGACC TGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	284	0.0035	217	c.151 others(234): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTCAGGAGC AGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGGC CAGGGCGGGCCTCTGACATGGCTGCAGGTGAGGAGCAGAGGGTCAGGGTG GACCTCTGACATGGCTAAAGATGTGGAGCAGAGGATCAGGGTGGACCTCT GACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(210): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCC TCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCC GCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	410	0.0024	217	c.-22 others(228): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC77_chr12_396644_447642	419781	T T	TTCCATTA others(210): Show TTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGATAAA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTC CATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACA TAGCAGCACCCTCCATGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0229 a0003c0003t0002g0229	1	432	0.0023	217	c.413 others(234): Show c.413+1158_413+1159insTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGATAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAA AACACACATAGCAGCACCCTCCATGCTCCATTACAGTGC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	419877	G G	GTGTGTGT others(210): Show GTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCA TGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGATA AACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGC TCCATTACAGTGCTCTTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	432	0.0023	217	c.413 others(234): Show c.413+1306_413+1307insTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGATAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACACTCCATGTTCCATTACAGTGC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCR9_chr3_45881543_45908174	45890306	T T	TATATATA others(210): Show TATATATATTTATATAAATATATATATATAACATATATATATTTATATAA ATATATATATGTTATATATATATTTATATAAATATATATATAACATATAT ATATTTATATAAATATATATATAACATATATATATTTATATAAATATATA TATAACATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAAC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	424	0.0024	217	c.-29 others(234): Show c.-29+3659_-29+3660insTTATATAAATATATATATATAACATATA TATATTTATATAAATATATATATGTTATATATATATTTATATAAATATAT ATATAACATATATATATTTATATAAATATATATATAACATATATATATTT ATATAAATATATATATAACATATATATATTTATATAAATATATATATAAC ATATATATATTTATATAAATATATATATAACATATATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(210): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGAAGGGAGGGAAGGGAGGGAAGG GGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGATGGGGG CAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAGACGGG GAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGGG AGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0056 a0003c0003t0056	a0003c0003t0056g0079 a0003c0003t0056g0079	1	256	0.0039	217	c.727 others(234): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTGCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCCCCTTCCCTCC CTTCCCTCCCTTCCCTCCCCTCCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CDH4_chr20_61247261_61945617	61290438	A A	ATATCCAA others(210): Show ATATCCAATGAGACTTGCTGGATTTATCCCCGTATCCAATGAGACTTGCT GGGTTTATCCCCGTATCCAATGAGACTTGCTGGGTTTATCCCGATATCCA ATGAGACTTGCTGGATTTATCCCCGTATCCAATGAGACTTGCTGGGTTTA TCCCCGTATCCAATGAGACTTGCTGGGTTTATCCCCGTATCCAATGAGAC TTGCTGGGTTTATCCCCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	106	0.0094	217	c.169 others(236): Show c.169+35552_169+35553insGTTTATCCCCGTATCCAATGAGACTT GCTGGGTTTATCCCGATATCCAATGAGACTTGCTGGATTTATCCCCGTAT CCAATGAGACTTGCTGGGTTTATCCCCGTATCCAATGAGACTTGCTGGGT TTATCCCCGTATCCAATGAGACTTGCTGGGTTTATCCCCGTATCCAATGA GACTTGCTGGATTTATCCCCGTATCCAATGAGACTTGCTGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CERS6_chr2_168451272_168780134	168631576	T T	TATATATT others(210): Show TATATATTTAATATTTATATATTAAATATATAATATATTTAATATTTATA TATTAAATATATAATATATTTAATATTTATATATTAAATATATAATATAT TTAATATTTATATATTAAATATATAATATATTTAATATTTATATATTAAA TATATAATATATTTAATATTTATATATTAAATATATAATATATTTAATAT TTATATATTAAATATATA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	176	0.0057	217	c.465 others(232): Show c.465+585_465+586insTTAAATATATAATATATTTAATATTTATAT ATTAAATATATAATATATTTAATATTTATATATTAAATATATAATATATT TAATATTTATATATTAAATATATAATATATTTAATATTTATATATTAAAT ATATAATATATTTAATATTTATATATTAAATATATAATATATTTAATATT TATATATTAAATATATAATATATTTAATATTTATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168631619	A A	ATTTATAT others(210): Show ATTTATATATTAAATATATAATATATTTAATATTTATATATTAAATATAT AATATATTTAATATTTATATATTAAATATATAATATATTTAATATTTATA TATTAAATATATAATATATTTAATATTTATATATTAAATATATAATATAT TTAATATTTATATATTAAATATATAATATATTTAATATTTATATATTAAA TATATAATATATTTAATG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18998.hp1 NA18984.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0145 a0001c0001t0001g0147 a0001c0001t0002g0145	2	176	0.0114	217	c.465 others(232): Show c.465+585_465+586insTTAAATATATAATATATTTAATATTTATAT ATTAAATATATAATATATTTAATATTTATATATTAAATATATAATATATT TAATATTTATATATTAAATATATAATATATTTAATATTTATATATTAAAT ATATAATATATTTAATATTTATATATTAAATATATAATATATTTAATATT TATATATTAAATATATAATATATTTAATGTTTATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP46_chr10_132803392_132947570	132887600	T T	TTCTCTCT others(210): Show TTCTCTCTCCTCTCCTCTCTCCTCTTCTCTCCTCTCCCTTCTTCTCTCTC CTCTCCTCTCTCCTCTTTCACCTCTCTCTCTCCTCTCCTCTCTCTCTCCT CTCCTCTCTCTCTCCGCTCCTCTCTCTCTCCTCTCCCCTCTTCTCTCCTC TCCCTTCTTCTCTCTCCTCTCCTCTCCCCTCTTCTCTCCTCTCCCCTCTT CTCTCCTCTCCCTTCTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0028 a0028	a0028c0058 a0028c0058	a0028c0058t0001 a0028c0058t0001	a0028c0058t0001g0154 a0028c0058t0001g0154	1	246	0.0041	217	c.330 others(236): Show c.3305-1642_3305-1641insGAAGAAGGGAGAGGAGAGAAGAGGGG AGAGGAGAGAAGAGGGGAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAG AAGAGGGGAGAGGAGAGAGAGAGGAGCGGAGAGAGAGAGGAGAGGAGAGA GAGAGGAGAGGAGAGAGAGAGGTGAAAGAGGAGAGAGGAGAGGAGAGAGA AGAAGGGAGAGGAGAGAAGAGGAGAGAGGAGAGGAGAGAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHMP4A_chr14_24204615_24218488	24209057	G G	GAAAGCTA others(210): Show GAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCTCCTTC CATTCCAAGTAGCAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCT ACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCTCCTTCCATTCCA AGTAGCAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCT CCTTCCATTCCAAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02622.hp2 HG02895.hp1 others(3): Show HG00423.hp2 HG02622.hp2 HG02895.hp1 HG02896.hp1 HG03516.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001	a0001c0001t0001g0005 a0001c0001t0002g0013 a0001c0001t0003g0042 others(1): Show a0001c0001t0001g0005 a0001c0001t0002g0013 a0001c0001t0003g0042 a0003c0003t0001g0022	6	418	0.0144	217	c.81 others(226): Show c.819_*820insGCTACTTGGAATGGAAGGAGCAAGTAGCTTTGCTAC TTGGAATGGAAGGAGCAAGTAGCTTTGCTACTTGGAATGGAAGGAGCAAG TAGCTTTGCTACTTGGAATGGAAGGAGCAAGTAGCTTTGCTACTTGGAAT GGAAGGAGCAAGTAGCTTTGCTACTTGGAATGGAAGGAGCAAGTAGCTTT GCTACTTGGAATGGAAGGAGCAAGTAGCTTT	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding		557		chr14	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTTT others(210): Show ATATTTTTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATTAAAAAAATATTTATTTTATTTATTTATTTTAA TATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0250 a0001c0001t0007g0250	1	402	0.0025	217	c.80- others(232): Show c.80-5006_80-5005insTTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAAAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATTTATTT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501787	C C	CAGCCGGT others(210): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCT CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG CAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAG GACCCCCAGGGGCTTCAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0224 a0001c0005t0002g0224	1	292	0.0034	217	c.268 others(236): Show c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCT CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAG CCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCA CCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCC TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178585731	C C	CACAGCCC others(210): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAATGCCCTACAGCACTGGATGGCGCTGGGGTAA TGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0151 a0002c0003t0005g0151	1	236	0.0042	217	c.294 others(234): Show c.294+4172_294+4173insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGTGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COPS4_chr4_83030183_83080818	83034520	A A	ATTTTTTT others(210): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTG TGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	372	0.0027	217	c.-70 others(226): Show c.-705_-704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGG CTAATTTTTGTATTTTTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		662		chr4	TogoVar
COPS4_chr4_83030183_83080818	83034520	A A	ATTTTTTT others(210): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCT GTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	372	0.0027	217	c.-70 others(226): Show c.-705_-704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCG GCTAATTTTTGTATTTTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		662		chr4	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(210): Show CCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCA CCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCGTC CACCCATCTGTCCACCCGTCCGTCCACCCGTCCGTCCATCCATCCCCCCG CCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATC TGTCCACCCATCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0194 a0001c0002t0013g0194	1	348	0.0029	217	c.13 others(228): Show c.1317_*1318insCCCCGCCCACCCATCTGTCCACCCATCCGTCCAT CCATCCCCCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCC ACCCACCCATCCGTCCACCCATCTGTCCACCCGTCCGTCCACCCGTCCGT CCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCC CCCCACCCACCCATCTGTCCACCCATCCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CSNK1G2_chr19_1936172_1986338	1955525	C C	CGCGGGGT others(210): Show CGCGGGGTGGGCGTGTGCCAGGGTGAGGCTCCGCGGGGTGGGCGTGTGCC AGGGTGAGGCTCCGCGGGGTGGGCGTGTGCCAGGGTGAGGCTCCGCGGGG TGGGCGTGTGCCAGGGTGAGGCTCCGCGGGGTGGGCGTGTGCCAGGGTGA GGCTCCGCGGGGTGGGCGTGTGCCAGGGTGAGGCTCCGCGGGGTGGGCGT GTGCCAGGGTGAGGCTCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	382	0.0026	217	c.-26 others(238): Show c.-265-13965_-265-13964insAGGGTGAGGCTCCGCGGGGTGGGC GTGTGCCAGGGTGAGGCTCCGCGGGGTGGGCGTGTGCCAGGGTGAGGCTC CGCGGGGTGGGCGTGTGCCAGGGTGAGGCTCCGCGGGGTGGGCGTGTGCC AGGGTGAGGCTCCGCGGGGTGGGCGTGTGCCAGGGTGAGGCTCCGCGGGG TGGGCGTGTGCCAGGGTGAGGCTCTGCGGGGTGGGCGTGTGCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(210): Show TATTATATAATATATATAATATATATTATATATTATATATATTATATAAT ATATATAATATATATATTATATATAATATATAATATATTATTATATATAT TATAAATTATATAATATATATAATATATATATTATATATAATATATTATA TATTATATAATATATAATATATATAATATATAATATATTATATATAATAT ATTATATATTATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG02895.hp1 others(1): Show HG02559.hp2 HG02630.hp1 HG02895.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043	4	240	0.0167	217	c.36 others(228): Show c.3650_*3651insTATTATATAATATATAATATATTATATATAATAT ATTATATATTATATATATTATATATTATATAATATATAATATATTATATA TAATATATATATTATATATATTATATAATTTATAATATATATAATAATAT ATTATATATTATATATAATATATATATTATATATATTATATAATATATAT AATATATAATATATATTATATATATTATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(210): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGC CTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0054 a0001c0001t0020g0054	1	370	0.0027	217	c.27 others(228): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGG CGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGA GGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DIP2B_chr12_50499985_50753657	50593825	C C	CCCTCCCC others(210): Show CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	284	0.0035	217	c.101 others(236): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCTCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478138	A A	AGAAGGGA others(210): Show AGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAG GGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGG GGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGA AGAAGGGAGGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	88	0.0114	217	c.158 others(234): Show c.158-5590_158-5589insCCTTCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCTTCTTCTCCCCTCCCCTCCTCTCCCCTCCCTTCTTCTCCCCTCC CCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCT TCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCC CCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGAAGAA others(210): Show GGGAAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGA GAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGAGGAAGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGC GGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGGGCGGGGCGGGGC AGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02040.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0026 a0001c0001t0001g0028	2	88	0.0227	217	c.158 others(234): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC TTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCTCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTCCCTTCTCCCCTCCCC TCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516830	G G	GGGGGGGG others(210): Show GGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGG GGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACAC GGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTA GGGTGGGGGGGGGACAGGGGGTAGGGTGGGGGGGACAGGGGGTAGGGTGG GGGGGGACGGGGTAGGGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0003 a0001c0009t0003g0003	1	88	0.0114	217	c.86- others(234): Show c.86-30301_86-30300insACCCTACCCCGTCCCCCCCCACCCTACC CCCTGTCCCCCCCACCCTACCCCCTGTCCCCCCCCCACCCTACCCCCTGT CCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTGTCCCCCC CCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCC TACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLEC1_chr3_38034208_38129025	38087525	C C	CAGCACTG others(210): Show CAGCACTGACACCATCCATCAGCATGCTCACACCATCCATCAGCACTGAC ACCATCCATTAGCACTGACACCATCCATCAGCATGCTCACACCATCCATC AGCACTGACACCATCCATTAGCACTGACACCATCCATCAGCATGCTCACA CCATCCATCAGCACTGACACCATCCATCAGCATGCTCACACCATCCATCA GCACTGACACCATCCATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0138 a0001c0026t0002g0138	1	298	0.0034	217	c.157 others(234): Show c.1573-713_1573-712insTAGCACTGACACCATCCATCAGCATGCT CACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCAT CAGCATGCTCACACCATCCATCAGCACTGACACCATCCATCAGCATGCTC ACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCATC AGCATGCTCACACCATCCATCAGCACTGACACCATCCAT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	9/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	848871	G G	GTGCGTGT others(210): Show GTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCG TGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGG GTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTG TAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGAACGTGCCAGGGTTTGTTC CAGTCTAGGATCTTGTGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02074.hp2 HG02071.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0009 a0001c0012t0004 a0001c0002t0009 a0001c0012t0004	a0001c0002t0009g0039 a0001c0012t0004g0036 a0001c0002t0009g0039 a0001c0012t0004g0036	2	40	0.0500	217	c.19- others(234): Show c.19-59039_19-59038insCGTGTTCCAGTGTAGGGTCGTGCGGTGC GTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCG GTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCG TGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGG AACGTGCCAGGGTTTGTTCCAGTCTAGGATCTTGTGATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642071	C C	CCCTCACC others(210): Show CCCTCACCTGTGTCACCCTCCAACCCGCCAGCCCTCACCTGTGTCACCCT CGACCCCGCCGGTCCCCACCTGTGTCACCCTCGACCCCGCCGGTCCTCAC CTGTGTCACCCTCGACCCCGCCGGTCCCCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCAGCCCTCACCTGTGTC ACCCTCGACCCCGCCGGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	217	c.181 others(236): Show c.1810+9044_1810+9045insCAACCCGCCAGCCCTCACCTGTGTCA CCCTCGACCCCGCCGGTCCCCACCTGTGTCACCCTCGACCCCGCCGGTCC TCACCTGTGTCACCCTCGACCCCGCCGGTCCCCACCTGTGTCACCCTCGA CCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCAGCCCTCACCTG TGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643994	T T	TCCTCACC others(210): Show TCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCT CGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCAC CTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCC GCCGGTCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTC ACCCTCCAACCCGCCGGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	217	c.181 others(238): Show c.1810+10967_1810+10968insCAACCCGCCGGCCCTCACCTGTGT CACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGC CCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTC GACCCCGCCGGTCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACC TGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(210): Show ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATACTATATATATAGTATATATATAGTATATATATAGTATATATATAG TGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTGTA TATATATAGTGTGTATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0057 a0001c0007t0006g0057	1	316	0.0032	217	c.355 others(236): Show c.355-25620_355-25619insGTATATATATATAGTATATATATAGT ATATATATAGTATATATATACTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTGTATATATATAGTGTGTATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYM_chr18_49031387_49465645	49440646	T T	TATATGAC others(210): Show TATATGACTATATATTATATATTTATATATGACTATATATTATATATATA ATATATGACTATATATTATATATATAACATATGACTATATATTATATATA TATAACATATGACTATATATTATATATATATAACATATGACTATATATTA TATATATATAACATATGACTATATATTATATATATATAACATATGACTAT ATATTATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18992.hp1 NA19012.hp1 others(1): Show HG00544.hp2 NA18992.hp1 NA19012.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0085 others(1): Show a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0094	4	290	0.0138	217	c.-53 others(236): Show c.-53-10200_-53-10199insGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATATA ATATATAGTCATATGTTATATATATAATATATAGTCATATATTATATATA TAATATATAGTCATATATAAATATATAATATATAGTCATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440646	T T	TATATGAC others(210): Show TATATGACTATATATTATATATTTATATATGACTATATATTATATATATA ATATATGACTATATATTATATATATAACATATGACTATATATTATATATA TATAACATATGACTATATATTATATATATATAACATATGACTATATATTA TATATATATAACATATGACTATATATTATATATATATAACATATGACTAT ATATTATATATTTATAAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0098 a0001c0007t0002g0098	1	290	0.0035	217	c.-53 others(236): Show c.-53-10200_-53-10199insGTTATAAATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATATA ATATATAGTCATATGTTATATATATAATATATAGTCATATATTATATATA TAATATATAGTCATATATAAATATATAATATATAGTCATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC2I1_chr7_158851558_158951189	158915655	T T	TGGTTGAC others(210): Show TGGTTGACATTAAGGATGATTGTGAAACGACACGCTGGTTGACATTAAGG ATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAA CGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCAACACGCTGGT TGACATTAAGGATGATTGTGAAACGTCAACACGGTGGTTGACATTAAGGA TGATTGTGAAACGTTGCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	274	0.0037	217	c.179 others(236): Show c.1791+1362_1791+1363insACACGCTGGTTGACATTAAGGATGAT TGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGACA CGCTGGTTGACATTAAGGATGATTGTGAAACGTCAACACGCTGGTTGACA TTAAGGATGATTGTGAAACGTCAACACGGTGGTTGACATTAAGGATGATT GTGAAACGTTGCCGGTTGACATTAAGGATGATTGTGAAACG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEF1A2_chr20_63483014_63504083	63487035	C C	CACCCTCC others(210): Show CACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCT CCTCTGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGC ATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCA GGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCC TGCCCACCCTCCACCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20905.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0010 a0001c0015t0001g0084 a0001c0001t0001g0010 a0001c0015t0001g0084	2	374	0.0054	217	c.12 others(228): Show c.1262_*1263insCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGC GGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAG GGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGG TGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGG GTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGT	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		978		chr20	TogoVar
EFNA2_chr19_1280873_1306431	1282509	A A	AAGAGGGA others(210): Show AAGAGGGAGGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGT GAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGGG GGGGAGGGAGGGGGGGTGTGAGGGAGGGGGGAGGGAGGAGGAGGGTGTGA AGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGAGGAGAG GGAGGAGGGTGTGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	294	0.0034	217	c.-36 others(228): Show c.-3660_-3659insAGAGGGAGGGGGAGGTGGGAGGGGAGGAGGGAGG GAGGGAGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGG GAGGGGAGGAGGGGGGGGGAGGGAGGGGGGGTGTGAGGGAGGGGGGAGGG AGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGG AAGGAGGGAGGAGAGGGAGGAGGGTGTGAAGGG	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3363		chr19	TogoVar
FAM13A_chr4_88720960_89062185	89042101	C C	CAAGGTGA others(210): Show CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02109.hp1 NA18961.hp2 others(2): Show HG01978.hp1 HG02109.hp1 NA18961.hp2 NA18980.hp1 NA18994.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0003c0013	a0001c0001t0001 a0001c0003t0004 a0001c0011t0002 others(1): Show a0001c0001t0001 a0001c0003t0004 a0001c0011t0002 a0003c0013t0001	a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0003t0004g0025 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0003t0004g0025 a0001c0011t0002g0027 a0003c0013t0001g0031	5	208	0.0240	217	c.28- others(234): Show c.28-12453_28-12452insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	1/23			chr4	TogoVar
FAM20A_chr17_68530116_68606367	68575617	T T	TTATTATA others(210): Show TTATTATATATCTATATTATTATATATATTATATATATATAGATTATATA TATTATATATATATATATATATAGATTATATATATATATAGATTATATAT ATATATAGATTATATATATATATTATATATATATATATATATATAGATTA TATATATATATTATATATTATATATATATATATATATATAATAATAATCT ATTATATATATATTATTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0283 a0002c0003t0010g0283	1	380	0.0026	217	c.405 others(236): Show c.405-19875_405-19874insTAATAATATATATATAATAGATTATT ATTATATATATATATATATATATAATATATAATATATATATATAATCTAT ATATATATATATATATATAATATATATATATAATCTATATATATATATAA TCTATATATATATATAATCTATATATATATATATATATAATATATATAAT CTATATATATATAATATATATAATAATATAGATATATAATA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM210A_chr18_13658347_13731558	13675079	A A	ATTATTTC others(210): Show ATTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTCATTT CCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTTTTTCCAG TTTCCTGATTATTAACATTCCTGAGCCCCGACTTCATTTCCAGTTTCCTG ATTATTAACATTCCTGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTA ACATTCCTGAGCCCCGAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp2 HG02451.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0045 a0001c0001t0044 a0001c0001t0045	a0001c0001t0044g0141 a0001c0001t0045g0140 a0001c0001t0044g0141 a0001c0001t0045g0140	2	326	0.0061	217	c.474 others(234): Show c.474-3107_474-3106insGTCGGGGCTCAGGAATGTTAATAATCAG GAAACTGGAAATGAAGTCGGGGCTCAGGAATGTTAATAATCAGGAAACTG GAAATGAAGTCGGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAAAAA AGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATGAAGTC GGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar

Search by Variant

Search

Search Results