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
DDX51_chr12_132131594_132149319	132149169	G G	GCCGCCTC others(433): Show GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0023 a0004c0004t0023	a0004c0004t0023g0080 a0004c0004t0023g0080	1	334	0.0030	440	c.-48 others(451): Show c.-4874_-4873insTGGCACTCACCGAGGGGATTAGGGGTGTGGTGTG AGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAG GCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCC GCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTC ACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAG GGGATTAGGGGTGTGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATT AGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTAGGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTA GGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTG AGGCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4851		chr12	TogoVar
DIRAS1_chr19_2709567_2726372	2713273	C C	CCACCTCC others(433): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCT CCTCCACCCTTCATCCCATCCGTCACTGTCTACACCGATCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTA ATGCCATCTCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCA TCCATCACTGTCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTCCACGCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACC CGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCAC CTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	440	c.39 others(451): Show c.3936_*3937insACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGA GGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGT GGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTGCGTGG AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGACAG TGATGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGAG ATGGCATTAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGA TGAAGGGTGGAGGAGGTGATCGGTGTAGACAGTGACGGATGGGATGAAGG GTGGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAG GAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1293		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713329	C C	CCCTTCCT others(433): Show CCCTTCCTCCCATCCCTCACTTCCTCCACCCATCACCTCCTCCATCCTTC ATCCCATCCCTCACTTCCTACACCCATCGCCTCCTCCACCCTTCACCCCA TACCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCCTCCCATCCCTCACTTCC TCCACCCATCACCTCCTCCATCCTTCATCCCATCCCTCACTTCCTACACC CATCGCCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCACCAC CTCCTCCACCCTTAATGCCATCTCTCACTTCCTACACCCATCGCCTCCTC CACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCT TCCTCCCATCCCTCACTTCCTCCACCCATCACCTCCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	440	c.38 others(451): Show c.3880_*3881insATGGAGGAGGTGATGGGTGGAGGAAGTGAGGGAT GGGAGGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATG AAGGGTGGAGGAGGCGATGGGTGTAGGAAGTGAGAGATGGCATTAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGTATGGGGTGAAGGGTGGAGGA GGCGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGATGGAGGAGGTGAT GGGTGGAGGAAGTGAGGGATGGGAGGAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAG TGAGGTATGGGGTGAAGGGTGGAGGAGGCGATGGGTGTAGGAAGTGAGGG ATGGGATGAAGGATGGAGGAGGTGATGGGTGGAGGAAGTGAGGGATGGGA GGAAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1237		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713492	A A	ATCACCTC others(433): Show ATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACC CCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTC CTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACAC CCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	440	c.37 others(451): Show c.3717_*3718insCGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAG GTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTA GGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGAT GAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGGGGTGGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGG AGGTGA	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1074		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713581	C C	CCACCCCC others(433): Show CCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCA TTCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCAC CTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG00733.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	412	0.0049	440	c.36 others(451): Show c.3628_*3629insACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGA GGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGT GGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGT AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAG TGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGG ATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGA TGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGG GTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAG GGGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		985		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713581	C C	CCACCCCC others(433): Show CCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCA TTCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACC CACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCAC CTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	440	c.36 others(451): Show c.3628_*3629insACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGA GGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGAC GGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGT AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAG TGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGG ATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGA TGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGG GTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAG GGGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		985		chr19	TogoVar
DISP3_chr1_11474155_11542551	11522779	C C	CAGAGCCC others(433): Show CAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAA GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGA GCTCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0296 a0001c0005t0004g0296	1	358	0.0028	440	c.236 others(459): Show c.2363-1161_2363-1160insAGCCCAGCCAGGACCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCC AGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAG ACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCTCAGCCAGGGCCCAGCGAGAGCCCAGC CAGGACCCAGCGAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	748142	G G	GTCTGCGG others(433): Show GTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTG GGATGGGGAGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGG CTCTGCGGTGGGATGAGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTG GGATGAGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGG GTCTGCGGTGGGATGGGGAGCTCTGCGGTGGGATGGGCGGGTCTGCGGTG GGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGAG CTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTG GGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGG CTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGAGC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0029 a0004c0008t0016g0029	1	40	0.0250	440	c.18+ others(457): Show c.18+10333_18+10334insGGGCTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGGAGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGGGGCTCTGCGGTGGGATGAGCGGGTCTGCGGTGGGATGGGGGGCTCTG CGGTGGGATGAGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATG GGCGGGTCTGCGGTGGGATGGGGAGCTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGGAGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGAGCTCTG CGGTGGGATGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1024472	G G	GAGGCAGA others(433): Show GAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCC GTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACA GTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGT GGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTG GGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCT CCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCC ACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGC CACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCA GCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	440	c.73+ others(459): Show c.73+116507_73+116508insGGCAGACACCCCAGCCGCCACCCACC CTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCAC CCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCC GCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCC CAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGA CACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAG GCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTG CCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTC CCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGA CAGTCCCGTGCCAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH14_chr1_224924675_225404286	225335813	A A	ACATATGT others(433): Show ACATATGTACACACGTGTGCATACACATATGTACACACGTGTGCATGCAC ATATGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACAT ATGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATAT GTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGT ACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTAC ACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTACAC ACGTGTACATACACATGTACACACGTGTACATACACACATGTACACACGT GTACATACACACATGTACACACGTGTACATACACACATGTACACACGTGT ACATACACATGTACACACGTGTACATACACATGTACACACG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0046 a0046	a0046c0081 a0046c0081	a0046c0081t0001 a0046c0081t0001	a0046c0081t0001g0220 a0046c0081t0001g0220	1	240	0.0042	440	c.100 others(461): Show c.10081-1453_10081-1452insCATATGTACACACGTGTGCATACA CATATGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACA TATGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATA TGTACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATG TACACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTA CACACGTGTGCATGCACATATGTACACACGTGTGCATGCACATATGTACA CACGTGTGCATGCACATATGTACACACGTGTACATACACATGTACACACG TGTACATACACACATGTACACACGTGTACATACACACATGTACACACGTG TACATACACACATGTACACACGTGTACATACACATGTACACACGTGTACA TACACATGTACACACG	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85			chr1	TogoVar
DNAJB6_chr7_157332004_157422439	157369743	A A	AGGCCTTT others(433): Show AGGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTAT TAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAACATT ATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACAGGCCCCTTCTT AACATTATTATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCCCTTT CTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAGAGG CCCTTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAA ACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTAT TATTAAACAGGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTTAAC ATCATTATTAAACAGGCCTTTCATAACGTTATTATTAAACG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	372	0.0027	440	c.346 others(457): Show c.346+2264_346+2265insTTTCATAACATTATTATTAAACGAGCCC CTTCTTAACATCATTATTAAACAGGCCTTTCATAACGTTATTATTAAACG GGCCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTCAACATTATTAT TAAACAGGCCCCTTCTTAACATTATTATTAAACGGGACCCTTCTTAAGAT TATTAAACGGGCCCTTTCTTAACATTATTATTAAACAGGCCCCTTCTTAA CATTATTATTAAAGAGGCCCTTTCTTAACATTATTATTAAACAGGCCTTT CATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGG CCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTATTATTAA ACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCATAACGTTATT ATTAAACGGGCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(433): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGT GTAAATATACCTATATGTTTACACATATATATGTGTAAATATACCTATGT GTATGTTTACACATATATATGTGTAAATATACCTATGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	398	0.0025	440	c.477 others(459): Show c.477+47644_477+47645insATGTTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCT ATATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACAC ATATATATGTGTAAATATACCTATGTGTGTATTTACACATATATATGTAA ATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492196	G G	GGATGGAT others(433): Show GGATGGATGGATGGGGAAATGGATGGATGGAAGGATGGATGGATAGGGAG GTGGGTGGATGGATGGATGGATGGATGTACAGAAGGATGGATGGGTGGGG AGGTGGGTGAGTGGATGAATGGATGGATGGATAGATAGAAGGATGGATGG GTGGGACAATAGATGGATGGATAGAGAGAAGGATGGATGGGTGGGGAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAGAGAAGG ATGGATGGTTGAGACAATGGATGGATGGATGGATGGAGAGATGGATGGAT GGACGGATGGACAGAAGGATGGATGGGTGGGGAGGTGGATGGATGGATTG AAGGATGGATGGGTGGGGACATGGATGGATGGATGGATGGATGGATGGAT GGATGGACAGAAGGATGTATGGGTGGGGAGGTGGGTGGATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01934.hp2 HG02572.hp2 others(7): Show HG01346.hp1 HG01934.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02976.hp2 HG03098.hp2 NA19030.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0121 others(5): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0121 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0002t0001g0144	10	374	0.0267	440	c.772 others(455): Show c.772+940_772+941insTATCCACCCACCTCCCCACCCATACATCCT TCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATGTCCCCACC CATCCATCCTTCAATCCATCCATCCACCTCCCCACCCATCCATCCTTCTG TCCATCCGTCCATCCATCCATCTCTCCATCCATCCATCCATCCATTGTCT CAACCATCCATCCTTCTCTCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTCCCCACCCATCCATCCTTCTCTCTATCCATCCATC TATTGTCCCACCCATCCATCCTTCTATCTATCCATCCATCCATTCATCCA CTCACCCACCTCCCCACCCATCCATCCTTCTGTACATCCATCCATCCATC CATCCACCCACCTCCCTATCCATCCATCCTTCCATCCATCCATTTCCCCA TCCATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(433): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAATGGATGGAT GGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAGAAGGATGG ATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGTGGGGAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGT ATGGGTGGGGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAAT GGATGGATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGG ATGGATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAAT GGATGGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG02683.hp2 others(2): Show HG00140.hp1 HG00735.hp1 HG02683.hp2 HG03834.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0021 a0001c0002t0001g0128 a0001c0002t0001g0129	5	374	0.0134	440	c.772 others(455): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACC TCCCCACCCATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCA TCCATCCATCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATC CATCCATCCATCCATCCATCCATCCATCTCCCCACCCATCCATCCTTCTC TCTATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(433): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAATGGAT GGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAGAAGG ATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGTGGGG AGATGGATGGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGT ATGGGTGGGGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAAT GGATGGATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGG ATGGATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAAT GGATGGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG02572.hp1 others(6): Show HG01167.hp1 HG02257.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02922.hp1 HG03209.hp1 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0052 a0001c0002t0001g0130 others(2): Show a0001c0002t0001g0015 a0001c0002t0001g0052 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132	9	374	0.0241	440	c.772 others(455): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACCTCCC CACCCATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCA TCCATCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATC CATCCATCCATCCATCCATCCATCCATCTCCCCACCCATCCATCCTTCTC TCTATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(433): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAAT GGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAGAAGG ATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGTGGGG AGATGGATGGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGT ATGGGTGGGGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAAT GGATGGATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGG ATGGATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAAT GGATGGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG03579.hp1 HG02055.hp1 HG02630.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	3	374	0.0080	440	c.772 others(455): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACCTCCC CACCCATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCA TCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTCCCCACCCATCCATCCTTCTC TCTATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(433): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAAT GGATGGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAG AAGGATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACAGGT GGGGAGATGGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGT ATGGGTGGGGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAAT GGATGGATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGG ATGGATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAAT GGATGGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	374	0.0027	440	c.772 others(455): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCTCCCCACCTGTCCATCCTTCAATCCATCCATCCACCTCCCCACC CATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCATCCA TCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTCCCCACCCATCCATCCTTCTC TCTATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(433): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAAT GGATGGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAG AAGGATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGT GGGGAGATGGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGT ATGGGTGGGGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAAT GGATGGATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGG ATGGATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAAT GGATGGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01256.hp2 HG01258.hp2 others(17): Show HG00609.hp1 HG01256.hp2 HG01258.hp2 HG01981.hp2 HG01993.hp2 HG02071.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02735.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG04204.hp1 NA18942.hp1 NA18963.hp1 NA18967.hp2 NA18977.hp1 NA19002.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0011 a0001c0002t0001g0038 a0001c0004t0001g0004 others(2): Show a0001c0002t0001g0011 a0001c0002t0001g0038 a0001c0004t0001g0004 a0001c0004t0001g0064 a0001c0004t0001g0066	20	374	0.0535	440	c.772 others(455): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACCTCCCCACC CATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCATCCA TCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTCCCCACCCATCCATCCTTCTC TCTATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
ENTPD8_chr9_137429364_137446357	137439973	T T	TCCCCCAG others(433): Show TCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGCCCCCCAGACCAG GACAGCCCCCCCAGACCAGGACAGCCCCCCCAGACCAGGAGAGTCCCCCA GGCCAGGACACCCCCTCACACGGAACAGTCCCTGAGACCAGGACAGCCCC CCCAGACCAGGACACCCCCTCACACAGAACAGACTCCCAGATCAGGACAG CCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCGCCAGACCA GGACAGCCCCCCCCAGACCAGGAGAGCCCCCCAGACCAGGACACCCCCTC ACACAGAACAGATTCCCAGACCAGGACAGCCCCCAGACCAGGACAGCCCC CCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCCCAGACCAG GAGAGCCCCCCAGGCCAGGACACCCCCTCAGACAGAACAGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	392	0.0026	440	c.-21 others(457): Show c.-21+1312_-21+1313insACTGTTCTGTCTGAGGGGGTGTCCTGGC CTGGGGGGCTCTCCTGGTCTGGGGGGGGGCTGTCCTGGTCTGGGGGGCTG TCCTGGTCTGGGGGGGGCTGTCCTGGTCTGGGGGCTGTCCTGGTCTGGGA ATCTGTTCTGTGTGAGGGGGTGTCCTGGTCTGGGGGGCTCTCCTGGTCTG GGGGGGGCTGTCCTGGTCTGGCGGGGGCTGTCCTGGTCTGGGGGGCTGTC CTGGTCTGGGGGGCTGTCCTGATCTGGGAGTCTGTTCTGTGTGAGGGGGT GTCCTGGTCTGGGGGGGCTGTCCTGGTCTCAGGGACTGTTCCGTGTGAGG GGGTGTCCTGGCCTGGGGGACTCTCCTGGTCTGGGGGGGCTGTCCTGGTC TGGGGGGGCTGTCCTGGTCTGGGGGGCTGTCCTGGTCTGGGGGGGCTGTC CTGGTCTGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
EXD3_chr9_137301896_137428162	137327968	A A	AAAAACAA others(433): Show AAAAACAACAAATATACACCCACATGATGAGTAAAAACAACAAATAAACA CCCACATGATGAGTAAAAACAACGAACAAACACCCACGTGATGAGTAAAA ACAACTAATATACACCCATATCATGAGTAAAAACAACTAATATACTCCCA TATGATGAGTAAAAACAACTAATATACACCCACATGATGAGTAAAAACAA CGAATAAACACCCACATGATGAGTAAAAACAATGAATATACACCCACATG AGTAAAAACAACTAATATACTCCCATATGACGAGTAAAAACAACGAATAT ACACCCACATGATGAGTAAAAACAACAAACACCCACATGATGAGTAAAAA CAACTAATATACTCCCACATGATGAGTAAAAACAACTAATATACTCCCAT ATGATGAGTAAAAACAACTAATATACACCCACATGATGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG00741.hp2 others(6): Show HG00099.hp1 HG00741.hp1 HG00741.hp2 HG01975.hp2 HG02165.hp2 HG02922.hp1 HG03041.hp2 HG03669.hp2 HG04184.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0010 a0012 a0014 a0018 a0021	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0010c0006 a0012c0011 a0014c0025 a0018c0016 a0021c0027	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0010c0006t0001 a0012c0011t0001 a0014c0025t0001 a0018c0016t0001 a0021c0027t0001	a0001c0001t0001g0059 a0002c0002t0001g0028 a0003c0003t0001g0037 others(6): Show a0001c0001t0001g0059 a0002c0002t0001g0028 a0003c0003t0001g0037 a0004c0004t0001g0027 a0010c0006t0001g0008 a0012c0011t0001g0020 a0014c0025t0001g0071 a0018c0016t0001g0019 a0021c0027t0001g0064	9	82	0.1098	440	c.199 others(459): Show c.1999-3826_1999-3825insACTCATCATGTGGGTGTATATTAGTT GTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATCATGTG GGAGTATATTAGTTGTTTTTACTCATCATGTGGGTGTTTGTTGTTTTTAC TCATCATGTGGGTGTATATTCGTTGTTTTTACTCGTCATATGGGAGTATA TTAGTTGTTTTTACTCATGTGGGTGTATATTCATTGTTTTTACTCATCAT GTGGGTGTTTATTCGTTGTTTTTACTCATCATGTGGGTGTATATTAGTTG TTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATGATATGG GTGTATATTAGTTGTTTTTACTCATCACGTGGGTGTTTGTTCGTTGTTTT TACTCATCATGTGGGTGTTTATTTGTTGTTTTTACTCATCATGTGGGTGT ATATTTGTTGTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355626	G G	GAAGGAGG others(433): Show GAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAG GATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGA AGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGAAAGGAGAAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGA AGAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGG AAGGAGGAAGGAGAAAGGGGAGGAGGAAGGAGGAAGGAGGAAGGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	82	0.0122	440	c.757 others(455): Show c.757+641_757+642insTCCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTCCCCTTTCT CCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCTCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCCTTT CTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTC CTTCCTCCTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FHIT_chr3_59742277_61256452	60861204	T T	TATATATG others(433): Show TATATATGATATATATGATATATATCATATATGATATATATGATATATAT GATATATATCATATATGATATATATGATATATATGATATATATCATATGA TATGATATATATGATATATATGATATATATCATATCATATGATATATATG ATATATATGATATATATCATATGATATGATATATATCATATATCATATAT ATCATATCTCATATGATATATATCATATATATCATATCATATATGAAATA TATGATATATATGATATATCATATCATATATGAAATATATGATATATATG ATATATCATATCATATCATATATGATATATATGATATATATGATATATCA TATCATATCATATATGATATATATGATATATGATATATCATATCATATCA TATATGATATATATGATATATATGATATATCATATCATATC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	46	0.0217	440	c.-11 others(461): Show c.-110-39194_-110-39193insGATATGATATGATATATCATATAT ATCATATATATCATATATGATATGATATGATATATCATATATCATATATA TCATATATGATATGATATGATATATCATATATATCATATATATCATATAT GATATGATATGATATATCATATATATCATATATTTCATATATGATATGAT ATATCATATATATCATATATTTCATATATGATATGATATATATGATATAT ATCATATGAGATATGATATATATGATATATGATATATATCATATCATATG ATATATATCATATATATCATATATATCATATGATATGATATATATCATAT ATATCATATATATCATATCATATGATATATATCATATATATCATATATAT CATATATGATATATATCATATATATCATATATATCATATATGATATATAT CATATATATCATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXK2_chr17_82514732_82609602	82586400	G G	GCCGGGGG others(433): Show GCCGGGGGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAGGTGGG CCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC AGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	308	0.0033	440	c.157 others(457): Show c.1576+201_1576+202insCGGGGGGGAAAGGAGGAGAACGGAGACC ACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAACGGAGACCACA GGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXP1_chr3_70949708_71588728	71435741	A A	AAGGGACG others(433): Show AAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAAGGGACGGA GGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAG GAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGG GAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGG GAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGG GAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	96	0.0104	440	c.-16 others(461): Show c.-168+57684_-168+57685insCCTTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(433): Show TACATTGTATATATAATTTATATATACATTGTATATATAATTTATATATA CATTGTATATATAATTTATATATACATTGTATATATAATTTATATATACA TTGTATATATAAATTATATATACATTGTATATATAATTTATATATACATT GTATATATAATTTATATATACATTGTATATATAATTTATATATACAATGT ATATATAAATTATATATACAATGTATATATAAATTATATATACATTGTAT ATATAATTTATATATACAATGTATATATAAATTATATATACATTGTATAT ACAATTTATATATACATTGTATATACAATGTATATATAAATTGTATATAC AATGTATATATAAATTGTATATACAATGTATATATAAATTGTATATATAA TGTATATATAAATTGTATATACAATTTATATATAAATTATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0005 a0001c0001t0067g0005	1	214	0.0047	440	c.976 others(457): Show c.976-2634_976-2633insACATTGTATATATAATTTATATATACAT TGTATATATAATTTATATATACATTGTATATATAATTTATATATACATTG TATATATAATTTATATATACATTGTATATATAAATTATATATACATTGTA TATATAATTTATATATACATTGTATATATAATTTATATATACATTGTATA TATAATTTATATATACAATGTATATATAAATTATATATACAATGTATATA TAAATTATATATACATTGTATATATAATTTATATATACAATGTATATATA AATTATATATACATTGTATATACAATTTATATATACATTGTATATACAAT GTATATATAAATTGTATATACAATGTATATATAAATTGTATATACAATGT ATATATAAATTGTATATATAATGTATATATAAATTGTATATACAATTTAT ATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCCGCC others(433): Show CCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCCATC CCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCC GCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGC CCTCACCCATCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCT CACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCA CCCATCCCCGCCCTCACCGTCCCCGCCCTCACCGTCCCCGCCCTCACCCG CCCCCGCCCTCACCCGTCCCCGCCCTCACCCATCCCCGCCCTCACCGTCC CCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCG CCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	430	0.0023	440	c.76 others(451): Show c.7660_*7661insACGGTGAGGGCGGGGACGGTGAGGGCGGGGATGG GTGAGGGCGGGGATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGACGGTG AGGGCGGGGACGGTGAGGGCGGGGATGGGTGAGGGCGGGGACGGGTGAGG GCGGGGGCGGGTGAGGGCGGGGACGGTGAGGGCGGGGACGGTGAGGGCGG GGATGGGTGAGGGCGGGGATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGG GCGGGTGAGGGCGGGGACGGTGAGGGCGGGGATGGGTGAGGGCGGGGATG GGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGG TGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGACGGTGA GGGCGGGGATGGGTGAGGGCGGGGATGGGTGAGGGCGGGGGCGGGTGAGG GCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GET4_chr7_871554_901436	889783	C C	CCTGGGAG others(433): Show CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0169 a0001c0003t0002g0169	1	384	0.0026	440	c.467 others(457): Show c.467-1127_467-1126insCGAGCGGGTGTCAGGACGGGGCCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACG GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACG GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889813	T T	TAGGACGG others(433): Show TAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	384	0.0026	440	c.467 others(457): Show c.467-1106_467-1105insCCTGGGAGTGGAGGGAGCGAGAGCGGGT GTCAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNA14_chr9_77418079_77653322	77452588	G G	GTATGTGT others(433): Show GTATGTGTATGGAAGTGTGTCCGTGGTGTGTGTGGAGGTATATGTGTGTG TGCTGTGCATATGTGTATGTCTGTGGTGTGTATGTGTGTGTGGTGTGCTT ATGTGTATGTGTATGGTGTGTGTGTGGTGTGTGTATGTGTGTGGTGTATG TGTGTGGTGCATGTGTGTGGTTTGTGTCTGTGTGTGTGGCGTGTATGTGT ATGTGTGTGGTGTGTTTGTGGTATGTGTGTATGTGTATGGTGTGTATGTG TATGTGTGTGGTGTGTCTGTGTGGTGTGTATGTGTGTGGTGTGTATGTGT GTGGTGTGTATGTGTGTGTGGTATGTGTGTACGTGTGGTGTGTATGTGTG TGGTGTGTGTGGTATGTGTGTGTTGTGTGGTGTGTGTGTATGTGTGTGGT GTGTGTGTAGTATCTGTGTATGTGTGGTGTGGTGTGTGGTA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02717.hp1 HG02698.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0003 a0001c0006t0001 a0001c0005t0003 a0001c0006t0001	a0001c0005t0003g0151 a0001c0006t0001g0144 a0001c0005t0003g0151 a0001c0006t0001g0144	2	240	0.0083	440	c.310 others(459): Show c.310-18067_310-18066insTACCACACACCACACCACACATACAC AGATACTACACACACACCACACACATACACACACACCACACAACACACAC ATACCACACACACCACACACATACACACCACACGTACACACATACCACAC ACACATACACACCACACACATACACACCACACACATACACACCACACAGA CACACCACACACATACACATACACACCATACACATACACACATACCACAA ACACACCACACACATACACATACACGCCACACACACAGACACAAACCACA CACATGCACCACACACATACACCACACACATACACACACCACACACACAC CATACACATACACATAAGCACACCACACACACATACACACCACAGACATA CACATATGCACAGCACACACACATATACCTCCACACACACCACGGACACA CTTCCATACACATA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(433): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	440	c.31 others(451): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGGTTGGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACA CGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACG GGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GOLGA3_chr12_132763914_132833869	132793087	C C	CCACGGGA others(433): Show CCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACC CGCACTCGGAGGGCTCCACACAGACCCACCCCACGGGACCCGCACTCGGA GGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACA CAGACCCACCCCACGGGATCTGCACTCGGAGGGCCCCACACAGACCCACC GCACGGGACCCGCACTCGGAGGGCTCCACACTGACCCACCGCACGGGACC CGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGA GGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACA CAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACC GCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0100 a0001c0024t0002g0100	1	308	0.0033	440	c.247 others(459): Show c.2470-1795_2470-1794insCGGTGGGTCTGTGTGGAGCCCTCCGA GTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCC CGTGCGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGG GTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTGG AGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCAGTGTGGAGCCCTCCGA GTGCGGGTCCCGTGCGGTGGGTCTGTGTGGGGCCCTCCGAGTGCAGATCC CGTGGGGTGGGTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGCGGTGG GTCTGTGTGGAGCCCTCCGAGTGCGGGTCCCGTGGGGTGGGTCTGTGTGG AGCCCTCCGAGTGCGGGTCCCGTGCGGTGGGTCTGTGTGGAGCCCTCCGA GTGCGGGTCCCGTG	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(433): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCG CCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTC CCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCC CTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCC CTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGT CCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02630.hp2 HG02148.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0225 a0001c0001t0002g0204 a0001c0001t0002g0225	2	290	0.0069	440	c.972 others(455): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCA CCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTC CCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTT CCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(433): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCT CCTTCCCCTTTCCCATTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCC TCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01516.hp1 HG01934.hp1 HG02738.hp2 HG03654.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0104 others(12): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0176 a0001c0001t0005g0192	15	290	0.0517	440	c.972 others(455): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCTTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCATTCCCCTCCTTCCCCTTTC CCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTT CCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(433): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCC TCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG03225.hp1 HG02615.hp1 HG02622.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009	3	290	0.0103	440	c.972 others(455): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCTTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTC CCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTT CCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GTPBP6_chrX_299759_323796	321755	A A	AAAAAAAA others(433): Show AAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACA AAAAAAAAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGT CCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTT TGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01993.hp1 HG01993.hp2 others(4): Show HG01515.hp1 HG01993.hp1 HG01993.hp2 HG02300.hp1 NA18949.hp2 NA18957.hp2 NA19011.hp1	a0003 a0012 a0003 a0012	a0003c0004 a0003c0039 a0012c0014 a0003c0004 a0003c0039 a0012c0014	a0003c0004t0001 a0003c0004t0002 a0003c0039t0002 others(1): Show a0003c0004t0001 a0003c0004t0002 a0003c0039t0002 a0012c0014t0001	a0003c0004t0001g0089 a0003c0004t0001g0091 a0003c0004t0002g0093 others(3): Show a0003c0004t0001g0089 a0003c0004t0001g0091 a0003c0004t0002g0093 a0003c0004t0002g0096 a0003c0039t0002g0094 a0012c0014t0001g0007	7	155	0.0452	440	c.-29 others(451): Show c.-2969_-2968insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTT TTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTCTTTTT TTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2960		chrX	TogoVar
HERC6_chr4_88373852_88448097	88379742	A A	ATATATAA others(433): Show ATATATAAATATATATAATATATAAATATATAATATATAAATATATATAA TATATAAATATATAATATATAAATATATATAATATATAAATATATAATAT ATAAATATATATAATATATAAATATATAATATATAAATATATATAATATA TAAATATATAATATATAAATATATATAATATATAAATATATAATATATAA ATATATATAATATATAAATATATAAATATATAACATATAAATATATATAA TATATAAATATATATATAACATATAAATATATATAATATATAAATATATA TATAACATATAAATATATATAATATATAAATATATATATAACATATAAAT ATATATAATATATAAATATATATATAACATATAAATATATATAATATATA AATATATATATAACATATAAATATATATAATATATAAATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	174	0.0058	440	c.199 others(455): Show c.199+622_199+623insTATATAAATATATATAATATATAAATATAT AATATATAAATATATATAATATATAAATATATAATATATAAATATATATA ATATATAAATATATAATATATAAATATATATAATATATAAATATATAATA TATAAATATATATAATATATAAATATATAATATATAAATATATATAATAT ATAAATATATAATATATAAATATATATAATATATAAATATATAAATATAT AACATATAAATATATATAATATATAAATATATATATAACATATAAATATA TATAATATATAAATATATATATAACATATAAATATATATAATATATAAAT ATATATATAACATATAAATATATATAATATATAAATATATATATAACATA TAAATATATATAATATATAAATATATATATAACATATAAATATATATAAT ATATAAATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
IFFO2_chr1_18899280_18961676	18925893	A A	ATGGTTGG others(433): Show ATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGCTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGTTGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATGGAGGGATGGATTGG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	376	0.0027	440	c.666 others(457): Show c.666-4773_666-4772insCCAATCCATCCCTCCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC ATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAGCCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IGF2R_chr6_159964082_160116504	159980219	G G	GAAAGAAA others(433): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGA AGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAG GAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGA AAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAA GAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGA AGGAAAGAAGGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0033 a0033	a0033c0053 a0033c0053	a0033c0053t0062 a0033c0053t0062	a0033c0053t0062g0166 a0033c0053t0062g0166	1	310	0.0032	440	c.149 others(459): Show c.149+10844_149+10845insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAG AAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAGGAAAGAAGGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAAGAA AGAAAGAAAGAAAG	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IL32_chr16_3060640_3074530	3066920	A A	TGGCCCTG others(433): Show TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	458	0.0022	440	c.16- others(453): Show c.16-458_16-457insTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAG GCCCACGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCTG GCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCTGGCCCTGCTCT TGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGG GGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAG GCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAG GCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCT TGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGG GGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAG GCCCACGC	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6			chr16	TogoVar
INS_chr11_2154779_2166209	2161948	C C	CACCCCTG others(433): Show CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGA CCCCTGTCCCCACACCCCTGTCCCCAGGACCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03130.hp1 HG01243.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	376	0.0053	440	c.-79 others(449): Show c.-799_-798insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTG GGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		740		chr11	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406390	A A	ACATCTAG others(433): Show ACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTG TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGGCATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0148	a0001c0001t0148g0200 a0001c0001t0148g0200	1	276	0.0036	440	c.44 others(449): Show c.443_*444insCCACAGAGGTCCACTCAGTGACAAACACACACTGAA GGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACGAGATGCCACAGAGGTCCACTCAGTGACAA ACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAG TGACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACTA GATG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	443		chr2	TogoVar
KCNMB2_chr3_178531436_178849429	178758709	G G	GATATATA others(433): Show GATATATATATATATATATCTCCAAGAGGAGATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATCTCCAAAAGGAGATATA TATATATATATATATCTCCAAAAGGAGATATATATATATATATATATCTC CAAGAGGAGATATATATATATATATATATATATATCTCCAAGAGGAGATA TATATATATATATATATATATCTCCTCTTGGAGATATATATATATATATA TATATCTCCAAGAGGAGATATATATATATATATCTCCAAGAGGAGATATA TATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCA AGAGGAGATATATATATATATATATATCTCCAAGAGGAGAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	232	0.0043	440	c.-67 others(459): Show c.-67-48586_-67-48585insATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAAAGGAGATATATATATATATATATATCTCCAAAAGG AGATATATATATATATATATATCTCCAAGAGGAGATATATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATATCTCC TCTTGGAGATATATATATATATATATATATCTCCAAGAGGAGATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATCTCCAAGAGGAGAT ATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAG ATATATATATATATATATATCTCCAAGAGGAGATATATATATATATATAT ATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGATAT ATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442902	C C	CCACCACC others(433): Show CCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACC ATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCAT CACCACCATCACCATCACCACCACCATCACATCAACACCATGACCACCAT CACCACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCA CCATCACTATCACCACCATCACCATCACCACCACCACCACCACCACCATC ACCATCACCACCATCACCACCATCACCATCACCACCACCACCACCATCAC CACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCATTA CCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCACC ATCACCATCACCACCACCATCACCATTATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03195.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0103 a0001c0002t0023g0105 a0001c0002t0023g0106 a0001c0002t0023g0103 a0001c0002t0023g0105 a0001c0002t0023g0106	3	330	0.0091	440	c.691 others(455): Show c.691-372_691-371insATGGTGGTGGTGATAATGGTGATGGTGGTG GTGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGT AATGGTGGTGGTAATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGA TGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATG GTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGT GATAGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTTT TGGTGGTGGTGATGGTGGTCATGGTGTTGATGTGATGGTGGTGGTGATGG TGATGGTGGTGATGGTGATGGTAATGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGTCGG others(433): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGCGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	375	0.0027	440	c.-22 others(451): Show c.-2261_-2260insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGCGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGC AGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
LFNG_chr7_2514774_2533429	2515038	C C	CTGTCCAT others(433): Show CTGTCCATCCGTCCATCCATCCATCCATCTGTCTGTCTGTCTGCCCATCC ATCTGCCCCTCCATCTAACTGTTCATCCATCCACCTTTCCATCCATCCAT CTATTCATCCATCCATCCATCCGTCCCTCCATCTGTCCATCTGTCTATCC ATTCATTCATCCATCCATCCATTCATCCATCCATGCATCCATCTGTCCAT TCATCCATGCATCCATCCATCCATTCATCTGTCGGTCTGTCTGTCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCTGTCTATCCAT CCATCCATTCATCCATGCATCCATCCATCCATTCGTCTGTCTGTCCATTC ACCTATCCTTCCATCCATCCATGTATCTATCCATTCATCCATCTATCCAT CTGTCCATCCATCCATCCGTCCGTCCATCCATCTGTCCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG04184.hp2 HG02015.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0001 a0001c0001t0001g0042	2	414	0.0048	440	c.-48 others(451): Show c.-4824_-4823insTGTCCATCCGTCCATCCATCCATCCATCTGTCTG TCTGTCTGCCCATCCATCTGCCCCTCCATCTAACTGTTCATCCATCCACC TTTCCATCCATCCATCTATTCATCCATCCATCCATCCGTCCCTCCATCTG TCCATCTGTCTATCCATTCATTCATCCATCCATCCATTCATCCATCCATG CATCCATCTGTCCATTCATCCATGCATCCATCCATCCATTCATCTGTCGG TCTGTCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATT CATCTGTCTATCCATCCATCCATTCATCCATGCATCCATCCATCCATTCG TCTGTCTGTCCATTCACCTATCCTTCCATCCATCCATGTATCTATCCATT CATCCATCTATCCATCTGTCCATCCATCCATCCGTCCGTCCATCCATCTG TCCATT	LFNG	ENSG00000106003.14	transcript	ENST00000222725.10	protein_coding		4735		chr7	TogoVar
LHPP_chr10_124456823_124619141	124507824	G G	GGGGGTAG others(433): Show GGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAG GGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp2 HG02015.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0106 a0001c0001t0001g0051 a0001c0001t0001g0106	2	260	0.0077	440	c.625 others(457): Show c.625-9356_625-9355insGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTCGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRPAP1_chr4_3498612_3537422	3509228	T T	TTAAGACG others(433): Show TTAAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCA GTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACA CGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTC ACACACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTG GAGTCACACACGGCAGTCAACGCGTGGACACCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 NA19065.hp2 HG02486.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0156 a0001c0001t0178 a0001c0001t0156 a0001c0001t0178	a0001c0001t0156g0146 a0001c0001t0178g0110 a0001c0001t0156g0146 a0001c0001t0178g0110	2	420	0.0048	440	c.37 others(451): Show c.3745_*3746insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGT CCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCC GGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAG TCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTC AGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGC GTCTTA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3745		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509228	T T	TTAAGACG others(433): Show TTAAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGTTGAGACGCCGACTGGAATCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCA GTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACA CGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTC ACACACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTG GAGTCACACACGGCAGTCAACGCGTGGACACCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0180 a0001c0001t0180	a0001c0001t0180g0129 a0001c0001t0180g0129	1	420	0.0024	440	c.37 others(451): Show c.3745_*3746insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGT CCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCC GGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAG TCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGATTCCAGTCGGCGTCTC AACAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGC GTCTTA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3745		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509283	T T	TTGAGACG others(433): Show TTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCA GTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACA CGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTC ACACACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTG GAGTCACACACGGCAGTCAACGCGTGGACACCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG01358.hp2 others(15): Show HG00438.hp1 HG00544.hp2 HG01358.hp2 HG02155.hp2 HG02602.hp1 HG02735.hp1 NA18612.hp2 NA18948.hp2 NA18961.hp1 NA18970.hp1 NA18980.hp2 NA18991.hp1 NA18999.hp1 NA19012.hp2 NA19077.hp1 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0035 a0001c0001t0173 others(2): Show a0001c0001t0006 a0001c0001t0035 a0001c0001t0173 a0001c0001t0174 a0001c0001t0192	a0001c0001t0006g0017 a0001c0001t0006g0032 a0001c0001t0006g0034 others(11): Show a0001c0001t0006g0017 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0001t0006g0095 a0001c0001t0006g0112 a0001c0001t0006g0149 a0001c0001t0035g0085 a0001c0001t0035g0093 a0001c0001t0035g0094 a0001c0001t0173g0141 a0001c0001t0174g0125 a0001c0001t0192g0136	18	420	0.0429	440	c.36 others(451): Show c.3690_*3691insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGT CCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCC GGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAG TCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTC AGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGC GTCTCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3690		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509338	T T	TTGAGACG others(433): Show TTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCA GTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACA CGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTC ACACACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTG GAGTCACACACGGCAGTCAACGCGTGGACACCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0148 a0001c0001t0155g0148	1	420	0.0024	440	c.36 others(451): Show c.3635_*3636insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGT CCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCC GGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAG TCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTC AGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGC GTCTCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3635		chr4	TogoVar

Search by Variant

Search

Search Results