Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STAT3_chr17_42308324_42393442	42338161	G G	GGACCTGA others(193): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	302	0.0033	200	c.551 others(215): Show c.551-305_551-304insAAGGAGTATTCCCTCAGGTCAAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTCCAGGAGTATTCCCTCAGGTC AAGGAGTATTCCCTCAGGTCCAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTCAAGGAGTATTCCCTCAGGTCAAGGAGTATTCCCTCAGGTC CAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
SVEP1_chr9_110360248_110584741	110390336	C C	CTTATATA others(193): Show CTTATATAAGTATATATATACGTATATATATAAGTATGTATATACTTGTA TATATACTTATATAAGTATGTATGTATATATACTTATATAAGTATGTATG TGTATATATACACGTATATATATATACTTATATATATACGTGTATATATA CTTATATATATATACACACACACACACATACATATATACTTATATATACG T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0058 a0058	a0058c0044 a0058c0044	a0058c0044t0001 a0058c0044t0001	a0058c0044t0001g0267 a0058c0044t0001g0267	1	362	0.0028	200	c.982 others(217): Show c.9823-750_9823-749insACGTATATATAAGTATATATGTATGTGT GTGTGTGTGTATATATATATAAGTATATATACACGTATATATATAAGTAT ATATATATACGTGTATATATACACATACATACTTATATAAGTATATATAC ATACATACTTATATAAGTATATATACAAGTATATACATACTTATATATAT ACGTATATATATACTTATATAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
TAFA5_chr22_48484553_48756932	48620910	C C	CCCACCTA others(193): Show CCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCA TCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCA CCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCA TCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCA T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02897.hp2 others(3): Show HG01243.hp1 HG02055.hp1 HG02897.hp2 HG03195.hp1 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0188 others(3): Show a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0188 a0001c0001t0003g0006 a0001c0001t0003g0160 a0001c0001t0003g0198	6	258	0.0233	200	c.113 others(219): Show c.113-25614_113-25613insCCCCACCCACCCTATCTATCCACCCA CCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCA TCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCA TCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCA TCCACCTATCCTATTCATCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(193): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCC C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02055.hp2 HG02071.hp2 others(12): Show HG00099.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp1 HG02886.hp2 HG03098.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0019 a0001c0001 a0001c0009 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0009t0002 a0001c0019t0002	a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0031 others(12): Show a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0064 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0006g0028 a0001c0001t0006g0069 a0001c0001t0006g0121 a0001c0001t0014g0052 a0001c0009t0002g0107 a0001c0019t0002g0006	15	266	0.0564	200	c.-23 others(219): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAC GCCCGGCTAATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAS2R46_chr12_11056365_11067294	11066591	T T	TTACGTAT others(193): Show TTACGTATTTTTTAAATTAACTTTTCTTTTTTTGTGTGTTTTTTTATTTT TTTTATTTTTTATTTCTTTATTATTATTATACTTTAAGTTTTAGGGTTAC ATGTGCACAATGTGCCGGTTAGTTACATATGTATACATGTGCCATGCTGG TGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01081.hp2 others(29): Show HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG02004.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02559.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0000 a0003c0003t0000g0000	32	295	0.1085	200	c.-42 others(211): Show c.-4298_-4297insGCATTAGGAGATATACCTAATGCTAAATGACGAG TTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAAC CGGCACATTGTGCACATGTAACCCTAAAACTTAAAGTATAATAATAATAA AGAAATAAAAAATAAAAAAAATAAAAAAACACACAAAAAAAGAAAAGTTA ATTTAAAAAATACGTA	TAS2R46	ENSG00000226761.3	transcript	ENST00000533467.1	protein_coding		4298		chr12	TogoVar
TAS2R46_chr12_11056365_11067294	11066591	T T	TTACGTAT others(193): Show TTACGTATTTTTTAAATTAACTTTTCTTTTTTTGTGTGTTTTTTTATTTT TTTTATTTTTTATTTCTTTGTTATTATTATACTTTAAGTTTTAGGGTTAC ATGTGCACAATGTGCCGGTTAGTTACATATGTATACATGTGCCATGCTGG TGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01433.hp1 HG02027.hp1 others(12): Show HG00323.hp1 HG01433.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02602.hp1 NA18950.hp1 NA18955.hp1 NA18962.hp1 NA18988.hp1 NA19006.hp1 NA19072.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	15	295	0.0509	200	c.-42 others(211): Show c.-4298_-4297insGCATTAGGAGATATACCTAATGCTAAATGACGAG TTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAAC CGGCACATTGTGCACATGTAACCCTAAAACTTAAAGTATAATAATAACAA AGAAATAAAAAATAAAAAAAATAAAAAAACACACAAAAAAAGAAAAGTTA ATTTAAAAAATACGTA	TAS2R46	ENSG00000226761.3	transcript	ENST00000533467.1	protein_coding		4298		chr12	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(193): Show CCCTCCCCTCCCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTC CCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG02735.hp1 HG03492.hp1 HG01258.hp2 HG02735.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0177 a0001c0003t0003g0184 a0001c0003t0003g0217 a0001c0003t0003g0177 a0001c0003t0003g0184 a0001c0003t0003g0217	3	334	0.0090	200	c.10 others(213): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG AGGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGG AGGGGAGGGGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(193): Show CCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTC TCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTC CCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0197 a0001c0003t0002g0197	1	334	0.0030	200	c.10 others(213): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGG AGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGG AGGAGAGGGGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(193): Show CCCTCCCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTC TCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTC CCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01928.hp1 HG03491.hp2 others(3): Show HG00597.hp2 HG01928.hp1 HG03491.hp2 HG03492.hp2 HG03942.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0089 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0089 a0001c0002t0001 a0001c0002t0012 a0001c0004t0005	a0001c0001t0002g0248 a0001c0001t0089g0009 a0001c0002t0001g0171 others(2): Show a0001c0001t0002g0248 a0001c0001t0089g0009 a0001c0002t0001g0171 a0001c0002t0012g0001 a0001c0004t0005g0263	6	334	0.0180	200	c.10 others(213): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGG AGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGGG AGGAGAGGGGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(193): Show CCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTC CCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01256.hp1 NA18948.hp1 HG01192.hp2 HG01256.hp1 NA18948.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0023 a0001c0001 a0013c0023	a0001c0001t0025 a0001c0001t0038 a0013c0023t0112 a0001c0001t0025 a0001c0001t0038 a0013c0023t0112	a0001c0001t0025g0212 a0001c0001t0038g0230 a0013c0023t0112g0253 a0001c0001t0025g0212 a0001c0001t0038g0230 a0013c0023t0112g0253	3	334	0.0090	200	c.10 others(213): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG AGGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGG AGGGGAGGAGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(193): Show CCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCTCCCCTCTCCTCT CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTC CCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	334	0.0030	200	c.10 others(213): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGA GAGGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGAGGAGAGGGGAGAGG AGGGGAGGAGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBCD_chr17_82747065_82950914	82886635	T T	TCTCCCCT others(193): Show TCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0188 a0003c0004t0004g0188	1	318	0.0031	200	c.153 others(219): Show c.1533+2498_1533+2499insCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1627913	G G	GGGGGTGA others(193): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA AGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0235 a0001c0003t0055g0235	1	352	0.0028	200	c.299 others(215): Show c.299-488_299-487insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627945	A A	ACGGGGTG others(193): Show ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGTAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	352	0.0028	200	c.299 others(215): Show c.299-520_299-519insAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCC CTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGT CCCCTTCCCACCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628085	G G	GGGGTGAG others(193): Show GGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACA GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0002 a0012c0030t0002	a0012c0030t0002g0163 a0012c0030t0002g0163	1	352	0.0028	200	c.299 others(215): Show c.299-660_299-659insGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628255	G G	GGGGGTGA others(193): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	352	0.0028	200	c.299 others(215): Show c.299-830_299-829insGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTACTG TCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628401	C C	CGGGAAAG others(193): Show CGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACAGGGGGTGAT GCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAAGGGACAGCA GAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGG T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02300.hp2 HG02109.hp1 HG02300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0110 a0001c0004t0002g0154 a0001c0004t0001g0110 a0001c0004t0002g0154	2	352	0.0057	200	c.299 others(215): Show c.299-976_299-975insACCTCACCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCACCCCGTGA GCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGAGTTCTGCTGTCCCTT TCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGTTCTGCTGTCCCTTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628800	A A	ACTCACGG others(193): Show ACTCACGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGC GGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGA G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	352	0.0028	200	c.299 others(217): Show c.299-1375_299-1374insCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCG TGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTTCCGCCTCACCCCGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCN2_chr22_30602174_30632271	30623891	T T	TATATACA others(193): Show TATATACACATATATACACACATATATACACATATATACACACACATATA CACACACATATATACACACATATATATACACACATATACACATATATACA CACATATATGTATACATATATACACACATATATGTATACATATATACACA CACATATGTATACATATATATACACACATATATGTATACATATATACACA C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0065 a0005c0005t0015g0065	1	466	0.0022	200	c.122 others(217): Show c.1222+813_1222+814insCACATATATACACACATATATACACATA TATACACACACATATACACACACATATATACACACATATATATACACACA TATACACATATATACACACATATATGTATACATATATACACACATATATG TATACATATATACACACACATATGTATACATATATATACACACATATATG TATACATATATACACACATATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENM4_chr11_78647829_79446030	79139749	A A	AAAATATA others(193): Show AAAATATATATTATATTTATATAAGTATATAAAATATATATTATATTTAT ATAAATATATAATATATATATTATATTTATATAAATATATAATATATATT ATATTTATATAAATATATAATATATATTATATTTATATAAATATATAATA TATTATATTTATATAAATATATAATATATTATATTTATATAAATATATAA T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0039 a0001c0037t0039	a0001c0037t0039g0019 a0001c0037t0039g0019	1	94	0.0106	200	c.-66 others(217): Show c.-66+8960_-66+8961insATTATATATTTATATAAATATAATATAT TATATATTTATATAAATATAATATATTATATATTTATATAAATATAATAT ATATTATATATTTATATAAATATAATATATATTATATATTTATATAAATA TAATATATATATTATATATTTATATAAATATAATATATATTTTATATACT TATATAAATATAATATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TGFBR3_chr1_91675343_91891151	91840380	A A	AATGCATG others(193): Show AATGCATGATTTTGTAATATCATGCATGATTTTGTAATATCATGCATGAT TTTGTAATATCATGCATGATTTTGTAATATCATGCATGATTTTGTAATAT CATGCATGATTTTGTAATATCATGCATGATTTTGTAATATCATGCATGAT TTTGTAATATCATGCATGATTTTGTAATATCATGCATGATTTTGTAATAT C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp2 HG02683.hp1 others(6): Show HG00438.hp2 HG01109.hp2 HG02683.hp1 HG02886.hp2 HG03195.hp1 HG03516.hp1 NA18965.hp2 NA18980.hp1 NA19080.hp2	a0002 a0002	a0002c0004 a0002c0008 a0002c0010 others(2): Show a0002c0004 a0002c0008 a0002c0010 a0002c0012 a0002c0016	a0002c0004t0002 a0002c0004t0009 a0002c0004t0013 others(5): Show a0002c0004t0002 a0002c0004t0009 a0002c0004t0013 a0002c0004t0031 a0002c0008t0002 a0002c0010t0022 a0002c0012t0032 a0002c0016t0009	a0002c0004t0002g0191 a0002c0004t0002g0221 a0002c0004t0009g0203 others(6): Show a0002c0004t0002g0191 a0002c0004t0002g0221 a0002c0004t0009g0203 a0002c0004t0013g0243 a0002c0004t0031g0184 a0002c0008t0002g0190 a0002c0010t0022g0193 a0002c0012t0032g0242 a0002c0016t0009g0257	9	284	0.0317	200	c.61+ others(217): Show c.61+21090_61+21091insGATATTACAAAATCATGCATGATATTAC AAAATCATGCATGATATTACAAAATCATGCATGATATTACAAAATCATGC ATGATATTACAAAATCATGCATGATATTACAAAATCATGCATGATATTAC AAAATCATGCATGATATTACAAAATCATGCATGATATTACAAAATCATGC ATGATATTACAAAATCATGCAT	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	2/16			chr1	TogoVar
TMEM120A_chr7_75981831_75999595	75988932	T T	TGTGGAGG others(193): Show TGTGGAGGGGAAGGCTGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGGGG GGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGG TGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTGGGTG TGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGGGG G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0111 a0001c0002t0004g0111	1	368	0.0027	200	c.377 others(215): Show c.377+232_377+233insCCCCCCACCCGGCCTTCCCCTCCACACACC CACCCGGCCTTCCCCTCCACACACCCACCCGGCCTTCCCCTCCACACCCC CTCCCCGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACCCCCC CACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTCCACACACC CACCCAGCCTTCCCCTCCAC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120B_chr12_121707752_121787068	121747853	G G	GCTGGGGT others(193): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG T	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20805.hp2 HG02602.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0297 a0001c0001t0023g0301 a0001c0001t0023g0297 a0001c0001t0023g0301	2	314	0.0064	200	c.189 others(215): Show c.189-460_189-459insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129539007	C C	CGTTGGCT others(193): Show CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGATCCC TGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGG TCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGTGATAGGTCAGAAGGAG T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04204.hp1 HG03710.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0021 a0001c0001t0002g0026	2	94	0.0213	200	c.969 others(217): Show c.969-7803_969-7802insACTCCTTCTGACCTATCACCAGGGGTCA CTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTAGCCAACGCTCCTTC TGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCG CCAGGGGTCCCTAGTAGCCAAC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM232_chr5_110414496_110731671	110610240	A A	AAGGAAGG others(193): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAA GGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGG G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0213 a0005c0006t0004g0213	1	250	0.0040	200	c.903 others(217): Show c.903-3954_903-3953insCCCTTCCTTCCTTCCTCCCTTCCTTCCT CCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCT CCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	8/13			chr5	TogoVar
TMEM240_chr1_1529778_1545624	1543677	A A	ACTGTCAC others(193): Show ACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCCCC TCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCCCC TCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCCCC ACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	428	0.0023	200	c.-33 others(211): Show c.-3332_-3331insAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGGAGTG GCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAG	TMEM240	ENSG00000205090.10	transcript	ENST00000378733.9	protein_coding		3054		chr1	TogoVar
TMPRSS2_chr21_41459305_41513158	41474314	A A	AGTGAGGA others(193): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0237 a0002c0003t0006g0237	1	382	0.0026	200	c.728 others(215): Show c.728-819_728-818insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474381	G G	GGGTGAGG others(193): Show GGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGG GTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGG AGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGG GTGAGTGAGGAGGTGAGGGCATGAGTGAGGAGGTGAGGGGGTGAGTGAGG A	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0016 a0002c0007t0003g0016	1	382	0.0026	200	c.728 others(215): Show c.728-886_728-885insTCCTCACTCACCCCCTCACCTCCTCACTCA TGCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACC TCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCA CCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACT CACTCCCTCACCCCCTCACC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474514	A A	AGTGAGGG others(193): Show AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA20752.hp1 NA18950.hp2 NA20752.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0083 a0002c0005t0001g0121 a0002c0005t0001g0083 a0002c0005t0001g0121	2	382	0.0052	200	c.728 others(217): Show c.728-1019_728-1018insCCACCCCCTCACTCACTCCCTCACCCCC TCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTC ACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCC TCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACTCACTC CCTCACCCCCTCACCCCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TNFAIP8_chr5_119351019_119404688	119360736	A A	AGTAGGAC others(193): Show AGTAGGACAGACCTAGTCTGTTTGTATAGTTGTCATTCACTACCTCTTGG GGGGATTTATAAAACGCAGATGAATGTTTAAACAAATGAAGATTTCCTGT TTCACCTTCTACGTGTAACTCAAGAGAATAAAACATGAGACATTGTGAAA TAAAATTTAGCTCTGCAAGTAGATCCTATTAGATCCCGGATTTTGAAAGT T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0284 a0001c0002t0004g0284	1	384	0.0026	200	c.31+ others(215): Show c.31+4620_31+4819dupGACAGACCTAGTCTGTTTGTATAGTTGTCA TTCACTACCTCTTGGGGGGATTTATAAAACGCAGATGAATGTTTAAACAA ATGAAGATTTCCTGTTTCACCTTCTACGTGTAACTCAAGAGAATAAAACA TGAGACATTGTGAAATAAAATTTAGCTCTGCAAGTAGATCCTATTAGATC CCGGATTTTGAAAGTTGTAG	TNFAIP8	ENSG00000145779.8	transcript	ENST00000504771.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGTTAG others(193): Show GGGGTTAGGGAGGCCAGGGGTTAGGGAGACCAAGAGTCAGGGAGGCCAGG GGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	466	0.0022	200	c.50 others(211): Show c.5048_*5049insAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAAC CCTAGGCCTCCCTAACCCCTGGCCTCCCTGACTCTTGGTCTCCCTAACCC CTGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TPO_chr2_1408463_1548673	1489933	A A	AGGAGTCA others(193): Show AGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	130	0.0077	200	c.176 others(219): Show c.1768+1954_1768+1955insCAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1489940	A A	ACGACACA others(193): Show ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGAGTC ACGACAGAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC GCGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	130	0.0077	200	c.176 others(219): Show c.1768+1954_1768+1955insCAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGAGGAGTCACGACAGAGCAGTGTAAGAGCCGCCACGTGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCGCGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCGCGACA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1489968	T T	TGGGTCCC others(193): Show TGGGTCCCACACAGGAGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCGCGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	130	0.0077	200	c.176 others(219): Show c.1768+1991_1768+1992insAGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCGCGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490118	A A	AGGGTCCC others(193): Show AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAATAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGAGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2	a0004 a0007 a0017 a0004 a0007 a0017	a0004c0032 a0007c0022 a0017c0033 a0004c0032 a0007c0022 a0017c0033	a0004c0032t0008 a0007c0022t0002 a0017c0033t0001 a0004c0032t0008 a0007c0022t0002 a0017c0033t0001	a0004c0032t0008g0108 a0007c0022t0002g0034 a0017c0033t0001g0101 a0004c0032t0008g0108 a0007c0022t0002g0034 a0017c0033t0001g0101	3	130	0.0231	200	c.176 others(219): Show c.1768+2176_1768+2177insAGGGTCCCACACAGGGGGAGTCACGA CACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490218	A A	AGGGTCCC others(193): Show AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	130	0.0077	200	c.176 others(219): Show c.1768+2269_1768+2270insCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPC4AP_chr20_34997404_35097807	35097573	A A	ATATATAC others(193): Show ATATATACACATATACATATACACGCGTGCGTGTATATACATATACACGC GTGCGTGTATATACATATACACGCGTGCGTGTATATACATATACACGCGT GCGTGTATATACATATACACGCGTGCGTGTATATACATATACACGCGTGC GTGTATATACATATACACGCGTGCGTGTATATACATATACACGCGTGCGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	334	0.0030	200	c.-47 others(211): Show c.-4793_-4792insCACGCACGCGTGTATATGTATATACACGCACGCG TGTATATGTATATACACGCACGCGTGTATATGTATATACACGCACGCGTG TATATGTATATACACGCACGCGTGTATATGTATATACACGCACGCGTGTA TATGTATATACACGCACGCGTGTATATGTATATACACGCACGCGTGTATA TGTATATGTGTATATA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4767		chr20	TogoVar
TRPC6_chr11_101446564_101589007	101558204	T T	TGTATACA others(193): Show TGTATACATGTATACATGTATATATGTATACATGTATATGGGTATACATG TATATATGTATACATGTATATGGGTATACATGTATATATGTATACATGTA TATGGGTATACATGTATATATGTATACATGTATATGGGTATACATGTATA TATGTATACATGTATATGGGTATACATGTATATATGTATACATGTATATG G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0108 a0001c0003t0002g0108	1	252	0.0040	200	c.170 others(219): Show c.170+25129_170+25130insCCATATACATGTATACATATATACAT GTATACCCATATACATGTATACATATATACATGTATACCCATATACATGT ATACATATATACATGTATACCCATATACATGTATACATATATACATGTAT ACCCATATACATGTATACATATATACATGTATACCCATATACATGTATAC ATATATACATGTATACATGTATAC	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TSACC_chr1_156333526_156351995	156344739	C C	CTCAACAG others(193): Show CTCAACAGGGTTAGGGTTAGGGTTAGGCTGCGCAGTCCGGCCCGGTAAGA CTACAACTCCCACTTCACCCTGCGCCAAGCCGGCAGGTCTTTCCCCCATG TGCTGGCTGGAGTCCCGCCTCTCTAGTCCACCTGTTGCTAAGGCTAGACC AAAAGAGTGGGAACTGTGAAGCCTTTCTTAGCCTTCACGGTCCGATAGGG T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	386	0.0026	200	c.163 others(213): Show c.163+40_163+41insTTAGGGTTAGGGTTAGGCTGCGCAGTCCGGCC CGGTAAGACTACAACTCCCACTTCACCCTGCGCCAAGCCGGCAGGTCTTT CCCCCATGTGCTGGCTGGAGTCCCGCCTCTCTAGTCCACCTGTTGCTAAG GCTAGACCAAAAGAGTGGGAACTGTGAAGCCTTTCTTAGCCTTCACGGTC CGATAGGGTTCAACAGGG	TSACC	ENSG00000163467.12	transcript	ENST00000368254.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
TSHZ2_chr20_52967358_53500330	53204098	G G	GATATACT others(193): Show GATATACTATTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0056 a0004c0004t0056	a0004c0004t0056g0003 a0004c0004t0056g0003	1	174	0.0058	200	c.41- others(217): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSPAN15_chr10_69446465_69512666	69460055	A A	ATGAGATG others(193): Show ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0272 a0003c0004t0007g0272	1	340	0.0029	200	c.96+ others(215): Show c.96+8380_96+8381insTGAGATGAGATGAGATGAGATGAGATGAGA TGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGA TGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGA TGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGA TGAGGTGAGATGAGATGAGA	TSPAN15	ENSG00000099282.10	transcript	ENST00000373290.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292040	T T	TCCCCCAT others(193): Show TCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTC CCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCGCCCT CCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCC GTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGC G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	284	0.0035	200	c.121 others(217): Show c.1214+458_1214+459insCGCATGCTGCCCTCTCCCGTACAGGTAG GGCTCCCCGGGACACGGGGACACGGAGGGACACGGAGGGACACGGGGGAC ACGGAGGGACATGGGGGACACGGAGGGCGCATGCTGCCCTCTCCCGTACA GGTAGGGCTCCCCGGGACACGGGGACACGGAGGGACACGGAGGGACACGG GGGACACGGAGGGACATGGGGG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TWIST2_chr2_238843085_238915534	238870442	A A	ACACACAC others(193): Show ACACACACCACACACCACACACACACCACACCCCATACACACCACACCCC ACACACACCACACCCCACACACACCCCACACACACCACACACCCCACACA CACCACACACCCCATACACACCACACCCCACACACACCCCACACACACCC ACACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	338	0.0030	200	c.35 others(219): Show c.35+21714_*35+21715insACCACACACCACACACACACCACACC CCATACACACCACACCCCACACACACCACACCCCACACACACCCCACACA CACCACACACCCCACACACACCACACACCCCATACACACCACACCCCACA CACACCCCACACACACCCACACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(193): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 NA18612.hp1 HG03704.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0085 a0001c0001t0002g0001 a0001c0001t0002g0085	2	320	0.0063	200	c.-38 others(211): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(193): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02976.hp2 HG01099.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0088 a0001c0001t0002g0007 a0001c0001t0002g0088	2	320	0.0063	200	c.-38 others(211): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CATATATG others(193): Show CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0215 a0001c0001t0007g0215	1	320	0.0031	200	c.-38 others(211): Show c.-3864_-3863insATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UNC5B_chr10_71207570_71307864	71296783	A A	ACTGGCGG others(193): Show ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0351 a0001c0003t0004g0351	1	368	0.0027	200	c.249 others(217): Show c.2490+212_2490+213insTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGG	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
VDAC1_chr5_133966871_134009975	133971061	C C	CGGGAGGC others(193): Show CGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGGGAGGCTG AGGCAGGAGAATTGCTTGAACCCAGGAGGCGGGGAGGCTGAGGCAGGAGA ATTGCTTGAACCCAGGAGGCGGGGAGGCTGAGGCAGGAGAATTGCTTGAA CCCAGGAGGCGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0046 a0001c0001t0003g0047	2	394	0.0051	200	c.17 others(211): Show c.1709_*1710insCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAG CCTCCCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCGCC TCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCGCCTCCTGGGTTC AAGCAATTCTCCTGCCTCAGCCTCCCCGCCTCCTGGGTTCAAGCAATTCT CCTGCCTCAGCCTCCC	VDAC1	ENSG00000213585.11	transcript	ENST00000265333.8	protein_coding		809		chr5	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(193): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	408	0.0025	200	c.53+ others(215): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VRK2_chr2_58041806_58164871	58137195	T T	TATATCAT others(193): Show TATATCATATATATCATATATGATACATATATCATATATATCATATATGA TACATATATCATATATATGATACATGTATCATATATGATACATATATATC ATATATATGATACATATGTATCATATATATGATACATATGTATCATATAT ATGATACATATGTATCATATATATGATACATATATATCTCATATATGATA C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	340	0.0029	200	c.856 others(217): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATGATACATGTATCATA TATGATACATATATATCATATATATGATACATATGTATCATATATATGAT ACATATGTATCATATATATGATACATATGTATCATATATATGATACATAT ATATCTCATATATGATACATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)