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
DIDO1_chr20_62872743_62931505	62875286	A A	ACCCCCAC others(298): Show ACCCCCACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCCA CCCCCACCCCCCCACCCCCACCCCCCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCCACCCCCA CCCCCACCCCCACCCCCCCACCCCCACCCGCACCCCCACCCCCACCCCCC ACCCGCACCCCACCCCCACCCCCACCCCCCACCCCCCACCCCCCACCCGC ACCCTCACCCCCACCCCCACCCCTCACCCCCCACCCCCCACACCCGCACC CCGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0246 a0003c0003t0001g0246	1	320	0.0031	305	c.39 others(316): Show c.3946_*3947insGTGCGGGGTGCGGGTGTGGGGGGTGGGGGGTGAG GGGTGGGGGTGGGGGTGAGGGTGCGGGTGGGGGGTGGGGGGTGGGGGGTG GGGGTGGGGGTGGGGTGCGGGTGGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGGGTGGGGGTGGGGGTGGGGGTGGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GGTGGGGGTGGGGGGGTGGGGGTGGGGGGTGCCGGTGCGGGTGGGGGTGC CGGTGCGGGTGGGGGTGGGGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2456		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593784	C C	CCTCCCCT others(298): Show CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	284	0.0035	305	c.101 others(324): Show c.101-32191_101-32190insTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GAAGAAGG others(298): Show GAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGA GGGGAGGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGCGA GGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGA GGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAAGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAGAGGA GGAGAGAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGGCAGGGAGGGGAGG GGCGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19066.hp2 HG00609.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0011t0003 a0001c0002t0003 a0001c0011t0003	a0001c0002t0003g0043 a0001c0011t0003g0088 a0001c0002t0003g0043 a0001c0011t0003g0088	2	88	0.0227	305	c.158 others(322): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCT GCCCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTC CCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCTTCTTCTCCCCTCGCCTCCTCTCCCCTCCCTTC TTCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCCCCTCCCTTCTTCTC CCCTCCCCTCCCCTCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	600463	C C	CAAGCCCT others(298): Show CAAGCCCTGTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATGCTCCG GAGCGACCCCACAAGCCCTGTCCACCTTAAAGAGGACGGCCCAGGGTGTG TGGATGCTCCGGAGCGACCCCACAAGCCCTGTCCACCTTAAAGAGGACGG CCCAGGGTGTTCGGATGCTCCGGAGCGACCCCACAGCCCCGTCCACCTTA AAGAGGACGGCCCAGGGTGTGCGGATGCTCCGGAGCGACCCCACAAGCCC TGTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATGCTCCGGAGCGAC CCCACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0083 a0001c0015t0002g0083	1	88	0.0114	305	c.85+ others(322): Show c.85+89030_85+89031insTGTGGGGTCGCTCCGGAGCATCCGCACA CCCTGGGCCGTCCTCTTTAAGGTGGACAGGGCTTGTGGGGTCGCTCCGGA GCATCCGCACACCCTGGGCCGTCCTCTTTAAGGTGGACGGGGCTGTGGGG TCGCTCCGGAGCATCCGAACACCCTGGGCCGTCCTCTTTAAGGTGGACAG GGCTTGTGGGGTCGCTCCGGAGCATCCACACACCCTGGGCCGTCCTCTTT AAGGTGGACAGGGCTTGTGGGGTCGCTCCGGAGCATCCGCACACCCTGGG CCGTCCTCTTTAAGGTGGACAGGGCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLC1_chr8_13078361_13519851	13284608	C C	CAAAACCT others(298): Show CAAAACCTGGTTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT AGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0016 a0016	a0016c0037 a0016c0037	a0016c0037t0001 a0016c0037t0001	a0016c0037t0001g0076 a0016c0037t0001g0076	1	212	0.0047	305	c.134 others(326): Show c.1348+20660_1348+20661insTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAAGAACCAGGTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13284608	C C	CAAAACCT others(298): Show CAAAACCTGGTTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01891.hp1 HG02896.hp2 others(8): Show HG01516.hp1 HG01891.hp1 HG02896.hp2 HG03017.hp2 HG03098.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 NA18906.hp2 NA21309.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0019 a0023	a0001c0001 a0001c0004 a0002c0002 others(6): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0002c0014 a0005c0008 a0008c0010 a0019c0044 a0023c0023	a0001c0001t0040 a0001c0004t0003 a0002c0002t0001 others(8): Show a0001c0001t0040 a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0006t0008 a0002c0014t0008 a0005c0008t0003 a0008c0010t0007 a0019c0044t0010 a0023c0023t0023	a0001c0001t0040g0052 a0001c0004t0003g0014 a0002c0002t0001g0085 others(8): Show a0001c0001t0040g0052 a0001c0004t0003g0014 a0002c0002t0001g0085 a0002c0002t0002g0098 a0002c0002t0010g0013 a0002c0006t0008g0015 a0002c0014t0008g0095 a0005c0008t0003g0021 a0008c0010t0007g0193 a0019c0044t0010g0067 a0023c0023t0023g0026	11	212	0.0519	305	c.134 others(326): Show c.1348+20660_1348+20661insTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAAGAACCAGGTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLGAP1_chr18_3491032_4460307	4355867	C C	CTCTTCTG others(298): Show CTCTTCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01192.hp2 others(4): Show HG00099.hp2 HG00140.hp1 HG01192.hp2 HG01981.hp1 HG02155.hp2 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0003t0021 a0001c0003t0035 a0001c0005t0005 a0001c0008t0025	a0001c0001t0002g0017 a0001c0001t0004g0001 a0001c0001t0009g0020 others(4): Show a0001c0001t0002g0017 a0001c0001t0004g0001 a0001c0001t0009g0020 a0001c0003t0021g0027 a0001c0003t0035g0074 a0001c0005t0005g0038 a0001c0008t0025g0049	7	80	0.0875	305	c.-26 others(326): Show c.-267+99138_-267+99139insCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC AAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC AGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGCAGAAGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1508511	T T	TGCAAACC others(298): Show TGCAAACCTCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGCA AACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACC CCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCT CACCACCCCCTGCAAACCCCCACCCCCCCACAAACCCCCGCCACCCCCTG CAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCA CCCCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 NA18906.hp2 HG02818.hp1 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0022 a0001c0002t0027 a0001c0002t0001 a0001c0002t0022 a0001c0002t0027	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0002t0027g0023 a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0002t0027g0023	3	40	0.0750	305	c.172 others(322): Show c.172+7087_172+7088insTCCGCCACCCCCTGCAAACGCCCACCAC CCCCCACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCC CGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCC CACCCCTCACCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCAC CACCCCCCACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCACAAACC CCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCC CCCACCCCTCACCACCCCCCGCAAACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	31257188	T T	TAGAAGTG others(298): Show TAGAAGTGGGCGTCTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG01109.hp1 others(31): Show HG00609.hp1 HG00642.hp1 HG01109.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02717.hp1 HG02922.hp2 HG03195.hp2 HG03486.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18966.hp1 NA18994.hp1 NA19000.hp1 NA19007.hp1 NA19043.hp1 NA19062.hp1 NA19066.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0017 a0018 a0021 a0034	a0001c0001 a0001c0002 a0002c0005 others(21): Show a0001c0001 a0001c0002 a0002c0005 a0002c0009 a0002c0016 a0002c0020 a0002c0024 a0003c0003 a0003c0062 a0004c0004 a0004c0011 a0005c0007 a0005c0053 a0007c0018 a0007c0019 a0008c0010 a0009c0013 a0010c0031 a0012c0040 a0012c0048 a0017c0027 a0018c0061 a0021c0035 a0034c0030	a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 others(24): Show a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0002c0005t0001 a0002c0005t0002 a0002c0009t0010 a0002c0016t0001 a0002c0020t0030 a0002c0024t0011 a0003c0003t0027 a0003c0062t0001 a0004c0004t0001 a0004c0004t0002 a0004c0011t0001 a0005c0007t0007 a0005c0053t0004 a0007c0018t0001 a0007c0019t0001 a0008c0010t0009 a0009c0013t0022 a0010c0031t0001 a0012c0040t0001 a0012c0048t0001 a0017c0027t0001 a0018c0061t0001 a0021c0035t0001 a0034c0030t0003	a0001c0001t0004g0101 a0001c0001t0008g0021 a0001c0002t0001g0051 others(31): Show a0001c0001t0004g0101 a0001c0001t0008g0021 a0001c0002t0001g0051 a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0105 a0002c0005t0001g0022 a0002c0005t0002g0020 a0002c0009t0010g0023 a0002c0016t0001g0060 a0002c0020t0030g0125 a0002c0024t0011g0016 a0003c0003t0027g0091 a0003c0062t0001g0078 a0004c0004t0001g0006 a0004c0004t0001g0064 a0004c0004t0001g0083 a0004c0004t0002g0086 a0004c0011t0001g0085 a0005c0007t0007g0063 a0005c0053t0004g0103 a0007c0018t0001g0068 a0007c0018t0001g0099 a0007c0019t0001g0052 a0007c0019t0001g0061 a0008c0010t0009g0004 a0009c0013t0022g0066 a0010c0031t0001g0096 a0012c0040t0001g0048 a0012c0048t0001g0057 a0017c0027t0001g0124 a0018c0061t0001g0003 a0021c0035t0001g0106 a0034c0030t0003g0029	34	126	0.2698	305	c.928 others(324): Show c.9286+3766_9286+3767insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCGAGACGCCCACTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	63/78			chrX	TogoVar
DMRT1_chr9_836697_974090	876913	T T	TCTCAGAA others(298): Show TCTCAGAAGAGGCTGCCTCAGCCATGGTCCCACTTCCAGTTACATGTGTG TCCTCAGACTTGCTCAGAAGAGGCTGCCTCAACCATGGTCCCACTTCCAG TTACATGTGTGTCCTCAGACTTGCTCAGAAGAGGCTGCCTCAGCCATGGT CCCACTTCCAGTTACATGTGTGTCCTCAGACTTGCTCAGAAGAGGCTGCC TCAGCCATGGTCCCACTTCCAGTTACATGTGTGTCCTCAGACTTGCTCAG AAGAGGCTGCCTCAACCATGGTCCCACTTCCAGTTACATGTGTGTCCTCA GACTTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0276 a0001c0001t0004g0277	2	306	0.0065	305	c.539 others(324): Show c.539-16919_539-16918insACCATGGTCCCACTTCCAGTTACATG TGTGTCCTCAGACTTGCTCAGAAGAGGCTGCCTCAGCCATGGTCCCACTT CCAGTTACATGTGTGTCCTCAGACTTGCTCAGAAGAGGCTGCCTCAGCCA TGGTCCCACTTCCAGTTACATGTGTGTCCTCAGACTTGCTCAGAAGAGGC TGCCTCAACCATGGTCCCACTTCCAGTTACATGTGTGTCCTCAGACTTGC TCAGAAGAGGCTGCCTCAGCCATGGTCCCACTTCCAGTTACATGTGTGTC CTCAGACTTGCTCAGAAGAGGCTGCCTCA	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(298): Show ATATATATATATATATATATATACACATACATATACATATATACACATAC ATATACATATATACACATACATATACATATATACACATACATATATATAT ACATATATATATACATATATATATACGTATATATATATACGTGTATATAT ATATACATATATATATATACGTGTGTATATATATACACATATATATATAC ACGTATATATATACACATATATATATATACACACATATATATATATACAC ATATATATATATACACATATATATATATATACACATATATATATATATAT ATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	266	0.0038	305	c.730 others(324): Show c.7305+1447_7305+1448insATATATATATATATATATATATGTGT ATATATATATATATGTGTATATATATATATGTGTATATATATATATGTGT GTATATATATATATGTGTATATATATACGTGTATATATATATGTGTATAT ATATACACACGTATATATATATATGTATATATATATACACGTATATATAT ATACGTATATATATATGTATATATATATGTATATATATATGTATGTGTAT ATATGTATATGTATGTGTATATATGTATATGTATGTGTATATATGTATAT GTATGTGTATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(298): Show ATATATATATATATATATATATATATACACATACATATACATATATACAC ATACATATACATATATACACATACATATACATATATACACATACATATAT ATATACATATATATACATATATATATACGTATATATATATACGTGTATAT ATATACACGTATATATATATACGTGTGTATATATACACATATATATATAC ACATATATATATATACACATATATATATACACATATATATATATACACAT ATATATATATACACATATATATATACACACATATATATATATATATATAT ATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0106 a0004c0004t0001g0106	1	266	0.0038	305	c.730 others(324): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT GTGTGTATATATATATGTGTATATATATATATGTGTATATATATATATGT GTATATATATATGTGTATATATATATATGTGTATATATATATGTGTATAT ATACACACGTATATATATATACGTGTATATATATACACGTATATATATAT ACGTATATATATATGTATATATATGTATATATATATGTATGTGTATATAT GTATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTAT GTGTATATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DOCK8_chr9_209865_470255	321493	T T	TGACCGAA others(298): Show TGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTG GGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATC AGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0114 a0002c0114	a0002c0114t0001 a0002c0114t0001	a0002c0114t0001g0015 a0002c0114t0001g0015	1	256	0.0039	305	c.828 others(322): Show c.828-4118_828-4117insGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTG TGATCAGAGATGGCTGGGCTCAAAACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619330	T T	TCCATGCC others(298): Show TCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCC CCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	250	0.0040	305	c.-10 others(324): Show c.-107+5613_-107+5614insATGCCCCCCTGCTCCCCTCCCTGCAG CTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTC CCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYNC2I1_chr7_158851558_158951189	158950708	T T	TGATTCCA others(298): Show TGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGAC CAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATAC TGCACGGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAG GTGTGATATACTGCACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTA TATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATATGATTC CAGGTGTTCTATATGATTCCAGGTGTGATATACTGCATGGGGACCAGCCT CTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	274	0.0037	305	c.49 others(316): Show c.4929_*4930insGATTCCAGGTGTTCTATATGATTCCAGGTGTGAT ATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATT CCAGGTGTGATATACTGCACGGGGACCAGCCTCTATACGATTCCAGGTGT TCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATATG ATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCA GCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTG CATGGGGACCAGCCTCTATAC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4520		chr7	TogoVar
DZIP3_chr3_108584722_108699840	108668765	T T	TAAAGGTG others(298): Show TAAAGGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	318	0.0031	305	c.242 others(322): Show c.2424-909_2424-908insCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGGTG	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128324240	C C	CAAACATG others(298): Show CAAACATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG02922.hp2 others(2): Show HG02280.hp2 HG02809.hp1 HG02922.hp2 HG03139.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0070 a0003c0004t0001g0210 a0003c0004t0001g0211 others(2): Show a0003c0004t0001g0070 a0003c0004t0001g0210 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0213	5	272	0.0184	305	c.787 others(324): Show c.787-16985_787-16984insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAACATGA	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	21166095	T T	TGACTATA others(298): Show TGACTATAGTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	312	0.0032	305	c.-27 others(326): Show c.-272+10079_-272+10080insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAGACTATAGTC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3331228	T T	TGGTGTCA others(298): Show TGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTGAGCAG AGGCAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGT ATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGA GATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGC AGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGT GTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCAT GAGATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	250	0.0040	305	c.259 others(322): Show c.259+6788_259+6789insCATCTCATGGGTGTATACACACCTGCCT CTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCA TCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGT ATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGC CTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTCACAC CATCTCATGGGTGTATACACACCTGCCTCTGCTCACACCATCTCATGGGT GTATACACACCTGCCTCTGCTGACACC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ENAH_chr1_225481829_225658123	225630237	A A	ATTTTTTT others(298): Show ATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC CGTAAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0109 a0002c0006t0109	a0002c0006t0109g0024 a0002c0006t0109g0024	1	308	0.0033	305	c.5+2 others(320): Show c.5+22448_5+22449insATTACGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAA	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
EPHX1_chr1_225805124_225850563	225821570	T T	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0035 a0003c0005t0001g0035	1	422	0.0024	305	c.-5- others(320): Show c.-5-7136_-5-7135insTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTTTTT	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ERICH1_chr8_659200_736224	676448	C C	CGAGGACA others(298): Show CGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGGCGAGGACAGA GGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGG ACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0236 a0002c0005t0001g0236	1	378	0.0027	305	c.305 others(322): Show c.305-2402_305-2401insACGAGGGGCCGCCGCGTCTCTGTCCTCA CGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTGT CCTCGCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCCGCCGCGT CTCTGTCCTCACGAGGGGCCGCCGCGCCTCTGTCCTCGCCGAGGGGCCGC CGCGCCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGG GGGCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCG CCGAGGGGGCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ESYT2_chr7_158725997_158834509	158729701	G G	GGGGGGGA others(298): Show GGGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGAGAGGGGCAAGTGTGGAG GTGCTGGGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAGT GTGGAGGTGCTGGGGAGAGGGGCAAGTGTGGAGGTGCTGGGGGGGAGGAG CAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGAG AGGGGCAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAGTGTGGAGGTGCTG GGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAGTGTGGAG GTGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 NA20805.hp1 HG01361.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0019 a0003c0003t0004 a0003c0003t0019	a0003c0003t0004g0343 a0003c0003t0019g0004 a0003c0003t0004g0343 a0003c0003t0019g0004	2	370	0.0054	305	c.45 others(316): Show c.4505_*4506insCAGCACCTCCACACTTGCTCCTCCCCCCCAGCAC CTCCACACTTGCTCCTCCCCCCCAGCACCTCCACACTTGCTCCTCCCCCC CAGCACCTCCACACTTGCCCCTCTCCCCAGCACCTCCACACTTGCTCCTC CCCCCCAGCACCTCCACACTTGCTCCTCCCCCCCAGCACCTCCACACTTG CCCCTCTCCCCAGCACCTCCACACTTGCTCCTCCCCCCCAGCACCTCCAC ACTTGCTCCTCCCCCCCAGCACCTCCACACTTGCCCCTCTCCCCAGCACC TCCACACTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1295		chr7	TogoVar
FAM120B_chr6_170301758_170412067	170377832	A A	ACACGCGT others(298): Show ACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCAGGCTGCT CGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGG CTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGG GAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACC CAGACGCCTGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGC GTCCCTAATCCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTCTGC TGTGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	289	0.0035	305	c.228 others(326): Show c.2284-10442_2284-10441insACCCAGACGCCCGGGAGAACACAG GCTCAGGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAATCCCAGACGCCTGGGAGAACACAGGCTCAC GCTGCTCTCTGCTGTGCCCACGCGTCCCTAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377914	C C	CGCCCGGG others(298): Show CGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTCTGCTGTG CACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCTGGGAGAACACAG GCTCACGCTGCTCTCTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0104 a0001c0002t0004g0104	1	289	0.0035	305	c.228 others(326): Show c.2284-10370_2284-10369insCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAG GCTCACGCTGCTCTCTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTCTGCTGTGCACACG CGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAATCCCAGATGCC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377914	C C	CGCCCGGG others(298): Show CGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAAACCCAGACGCCTTGGAGAACACAGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	289	0.0035	305	c.228 others(326): Show c.2284-10370_2284-10369insCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTTGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAATCCCAGATGCC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377914	C C	CGCCCGGG others(298): Show CGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCTG GGAGAACACAGGCTCACGCTGCTCTCTGCTGTGCCCACGCGTCCCTAAAC CCAGAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	289	0.0035	305	c.228 others(326): Show c.2284-10370_2284-10369insCGGGAGAGCACCGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAAC CCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAATCCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTCTG CTGTGCCCACGCGTCCCTAAACCCAGATGCC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM83B_chr6_54841771_54950099	54907604	T T	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03491.hp2 NA18943.hp1 others(7): Show HG03195.hp1 HG03491.hp2 NA18943.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18980.hp2 NA18985.hp2 NA19056.hp2 NA19089.hp2	a0001 a0001	a0001c0008 a0001c0013 a0001c0021 a0001c0008 a0001c0013 a0001c0021	a0001c0008t0005 a0001c0008t0025 a0001c0013t0005 others(1): Show a0001c0008t0005 a0001c0008t0025 a0001c0013t0005 a0001c0021t0005	a0001c0008t0005g0011 a0001c0008t0005g0012 a0001c0008t0005g0013 others(7): Show a0001c0008t0005g0011 a0001c0008t0005g0012 a0001c0008t0005g0013 a0001c0008t0005g0014 a0001c0008t0005g0017 a0001c0008t0005g0122 a0001c0008t0025g0018 a0001c0013t0005g0079 a0001c0013t0005g0267 a0001c0021t0005g0118	10	272	0.0368	305	c.445 others(324): Show c.445-18764_445-18763insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCTTT	FAM83B	ENSG00000168143.9	transcript	ENST00000306858.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAT3_chr11_92219818_92901473	92843046	T T	TAAAAATA others(298): Show TAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0016 a0016	a0016c0081 a0016c0081	a0016c0081t0039 a0016c0081t0039	a0016c0081t0039g0042 a0016c0081t0039g0042	1	118	0.0085	305	c.105 others(324): Show c.10567-879_10567-878insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAATACA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	18/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(298): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCATATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATATCATATATCACATATATCATATAT ATCATATATCACATATATCATATATCACATATATCATATATATCATATAT TATATATATCATATATATCATATATATCATATATATCATATATATCATAT ATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03471.hp1 HG01884.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0036 a0002c0034 a0001c0036 a0002c0034	a0001c0036t0004 a0002c0034t0004 a0001c0036t0004 a0002c0034t0004	a0001c0036t0004g0032 a0002c0034t0004g0038 a0001c0036t0004g0032 a0002c0034t0004g0038	2	236	0.0085	305	c.-22 others(316): Show c.-2234_-2233insTGATATATATGATATATATGATATATATGATATA TATGATATATATGATATATATAATATATGATATATATGATATATGTGATA TATGATATATGTGATATATGATATATATGATATATGTGATATATGATATA TATGATATATGTGATATATGTGATATATGATATATGTGATATATGTGATA TATGATATATGTGATATATGATAATGATATGATATATATGATATGATATA TATGATAGATCATATATGATCTCATATATATGATATATATGATATAATAT ATGATCTATCATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FBXL18_chr7_5470797_5518809	5512297	T T	TAAAAAAA others(298): Show TAAAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG00738.hp1 HG01256.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0008 a0002c0004t0002 a0001c0001t0008 a0002c0004t0002	a0001c0001t0008g0133 a0002c0004t0002g0134 a0001c0001t0008g0133 a0002c0004t0002g0134	2	338	0.0059	305	c.18+ others(320): Show c.18+1359_18+1360insTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCTTTTTTTTTTTTTTTTT	FBXL18	ENSG00000155034.21	transcript	ENST00000382368.8	protein_coding	1/4			chr7	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(298): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp1 HG01993.hp1 others(5): Show HG01081.hp2 HG01256.hp1 HG01993.hp1 HG03540.hp1 NA18942.hp2 NA18983.hp1 NA18994.hp1 NA19012.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0002 a0004c0006 a0001c0003 a0002c0002 a0004c0006	a0001c0003t0001 a0002c0002t0002 a0004c0006t0001 a0001c0003t0001 a0002c0002t0002 a0004c0006t0001	a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 others(5): Show a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0284 a0001c0003t0001g0291 a0001c0003t0001g0300 a0002c0002t0002g0010 a0004c0006t0001g0306	8	370	0.0216	305	c.189 others(324): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXR1_chr11_118966761_118986287	118966927	T T	TGCTCCAT others(298): Show TGCTCCATTGCACTCCAGCCTGGGCAACAAGGGTGAAAACTCCTTCTCAA AAAAAAAAAAAAAAAAAAAGGCGTGGTGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGGTGAGGTGGGCGGATCACGAGGTCAGGAGATCAAG ACCATCCTGGTTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATAGCTGGGCACGATGGCGGGCGCCTGTAGTCCCAGCTACTAGGGAGGC TGAGGCAGGAGAATGGCATTGAACCCGGGAGACGGAGCTTGCAGTGAGCC AAGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA19030.hp1 HG02717.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0011	2	430	0.0047	305	c.-50 others(316): Show c.-5005_-5004insGCTCCATTGCACTCCAGCCTGGGCAACAAGGGTG AAAACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAGGCGTGGTGCAGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGCGGATCACGA GGTCAGGAGATCAAGACCATCCTGGTTAACACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATAGCTGGGCACGATGGCGGGCGCCTGTAGTCCC AGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATTGAACCCGGGAGACGG AGCTTGCAGTGAGCCAAGATC	FOXR1	ENSG00000176302.13	transcript	ENST00000317011.8	protein_coding		4833		chr11	TogoVar
FRMPD4_chrX_12133473_12729523	12331774	A A	AGTATATA others(298): Show AGTATATATTTATATACTATATATAAATTATATATATTTATATACTATAT ATAAATTATATAATTTATATACTATATATAAATTATATATATTTATATAC TATATATAAATTATATAATTTATATACTATATATAAATTATATATATTTA TATACTATATATAAATATATATATTTATATACTATATATAAATTATATAT ATTTATATACTATATATAAATTATATATATTTATATACTATATATAAATT ATATATATTTATATACTATATATAAATTATATATATTTATATACTATATA TAAATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp1 HG02109.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0025 a0002c0004t0001g0087 a0001c0001t0001g0025 a0002c0004t0001g0087	2	174	0.0115	305	c.42- others(324): Show c.42-166906_42-166905insGTATATATTTATATACTATATATAAA TTATATATATTTATATACTATATATAAATTATATAATTTATATACTATAT ATAAATTATATATATTTATATACTATATATAAATTATATAATTTATATAC TATATATAAATTATATATATTTATATACTATATATAAATATATATATTTA TATACTATATATAAATTATATATATTTATATACTATATATAAATTATATA TATTTATATACTATATATAAATTATATATATTTATATACTATATATAAAT TATATATATTTATATACTATATATAAATT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16			chrX	TogoVar
FTCD_chr21_46131779_46160579	46145757	T T	TTCCCCCT others(298): Show TTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCG CCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAA CAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTT CCCCCCACCCCGCGCTCCCCCCACAGCGCCCTCCCCCCAACAGCGCCCTC CCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACA GCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA GCGCCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	230	0.0044	305	c.109 others(320): Show c.1098+60_1098+61insGGGCGCTGTTGGGGGGAGGGCGCTGTTGGG GGGAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG CTGTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGG GGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGG GAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCT GTTGGGGGGAGGGCGGGGAGGGGGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(298): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	424	0.0024	305	c.-32 others(316): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(298): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCCTCCTCCCCCCCCCCTCCTCCCCCCCCCCTCCTCCTCCTCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCCTCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	290	0.0035	305	c.427 others(322): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCCTCCCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCCTCCTCCCCCCC CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCC CTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	107022930	T T	TAAAATCA others(298): Show TAAAATCACAATGTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAACAGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0233 a0001c0003t0003g0233	1	256	0.0039	305	c.-48 others(316): Show c.-4876_-4875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTCACATTGTGATTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding		4455		chr11	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(298): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGGTCTCCATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	410	0.0024	305	c.-43 others(316): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATGGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(298): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01070.hp2 HG01109.hp1 others(25): Show HG00544.hp1 HG01070.hp2 HG01109.hp1 HG01361.hp1 HG01496.hp1 HG02074.hp1 HG02083.hp1 HG02451.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG04199.hp2 HG04204.hp2 NA18939.hp1 NA18944.hp1 NA18954.hp1 NA18982.hp1 NA18986.hp1 NA19012.hp2 NA19043.hp2 NA19081.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0006t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0006t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0016 a0001c0001t0004g0263 a0001c0006t0001g0014 others(21): Show a0001c0001t0002g0016 a0001c0001t0004g0263 a0001c0006t0001g0014 a0002c0002t0001g0001 a0002c0002t0001g0224 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0262 a0002c0002t0001g0293 a0002c0002t0001g0382 a0002c0002t0002g0251 a0002c0002t0002g0256	28	410	0.0683	305	c.-43 others(316): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(298): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	354	0.0028	305	c.234 others(320): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCGCTGTTCTTTCTT	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
HHIPL1_chr14_99640129_99685569	99673657	G G	GTGGTGCA others(298): Show GTGGTGCACTGAGGGGGTTGGCACAGAGGGGGTGGTGCACTGAGGGGGTT GGCACAGAGGGGGTGGTGCACTGAGGGGGTTGGCACAGAGGGGGTGGTGC ACTGAGGGGGTTGGCACAGAGGGGGTGGTGCACTGAGGGGGTTGGCACAG AGGGGGTGGTGCACTGAGGGGGGTGCACCTGGAGGGGTTGCACTGAGGGG GGTGGAATGGAGGGGGGTGCACTGAGGGGGTGGCACGGAGGGGGTGGTGC ATTAAGGGGGGTGGCATGGAGGGGGGGTGCACTGAGGGGGGTGGCACAGA GGGGGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0036 a0002c0001t0036	a0002c0001t0036g0287 a0002c0001t0036g0287	1	374	0.0027	305	c.181 others(324): Show c.1813+1258_1813+1259insTGGTGCACTGAGGGGGTTGGCACAGA GGGGGTGGTGCACTGAGGGGGTTGGCACAGAGGGGGTGGTGCACTGAGGG GGTTGGCACAGAGGGGGTGGTGCACTGAGGGGGTTGGCACAGAGGGGGTG GTGCACTGAGGGGGTTGGCACAGAGGGGGTGGTGCACTGAGGGGGGTGCA CCTGGAGGGGTTGCACTGAGGGGGGTGGAATGGAGGGGGGTGCACTGAGG GGGTGGCACGGAGGGGGTGGTGCATTAAGGGGGGTGGCATGGAGGGGGGG TGCACTGAGGGGGGTGGCACAGAGGGGGT	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	8/8			chr14	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(298): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATTATAATATATAATATAATATAT AATATATAATACAATATATAATATAATATATAATATAAAATATATAATAT AATATATAATATATAATATAATATATAATGTATAATATATAATATAATAT ATAATGTATAATATATAATATATAATGTATAATATATAATATATATTATA TATTATATATATTATATGTAATATATAATATATAATATATAATATATAAT ATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	366	0.0027	305	c.-36 others(316): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTTTATATATTATATTATATAAAATATAGTATTATAATA TATAATATAATATATAATATATAATACAATATATAATATAATATATAATA TAAAATATATAATATAATATATAATATATAATATAATATATAATGTATAA TATATAATATAATATATAATGTATAATATATAATATATAATGTATAATAT ATAATATATATTATATATTATATATATTATATGTAATATATAATATATAA TATATAATATATAATATATAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
ILF3_chr19_10649346_10697400	10672357	T T	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG03579.hp2 HG02965.hp1 HG03098.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 a0001c0001 a0002c0003 a0002c0005	a0001c0001t0001 a0002c0003t0007 a0002c0005t0007 a0001c0001t0001 a0002c0003t0007 a0002c0005t0007	a0001c0001t0001g0284 a0002c0003t0007g0089 a0002c0005t0007g0088 a0001c0001t0001g0284 a0002c0003t0007g0089 a0002c0005t0007g0088	3	346	0.0087	305	c.411 others(320): Show c.411+839_411+840insTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCTTTTTTTTTTTTTTTTT	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ILF3_chr19_10649346_10697400	10672357	T T	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01928.hp2 HG02135.hp2 others(3): Show HG00438.hp1 HG01928.hp2 HG02135.hp2 NA18959.hp2 NA18963.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0198 a0001c0001t0001g0277 a0001c0001t0001g0285 others(3): Show a0001c0001t0001g0198 a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0009g0200	6	346	0.0173	305	c.411 others(320): Show c.411+839_411+840insTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCTTTTTTTTTTTTTTTTT	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ILF3_chr19_10649346_10697400	10672358	T T	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0086 a0002c0003t0007g0086	1	346	0.0029	305	c.411 others(320): Show c.411+839_411+840insTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCCTTTTTTTTTTTTTTTT	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
IMPA1_chr8_81651914_81691325	81685257	A A	AGTATATA others(298): Show AGTATATATAGTATATATACTATACATAGTATATATAGTATATATACTAT ACATAGTATATATAGTATATATACTATACATAGTATATATAGTATATATA CTATACATAGTATATATAGTATATATACTATACATAGTATATATAGTATA TATACTATACATAGTATATATAGTATATATACTATACATAGTATATATAG TATATATACTATACATAGTATATATAGTATATATACTATACATAGTATAT ATAGTATATATACTATACATAGTATATATAGTATATATACTATACATAGT ATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0199 a0001c0001t0012g0199	1	380	0.0026	305	c.-25 others(320): Show c.-25+994_-25+995insATATATACTATGTATAGTATATATACTATA TATACTATGTATAGTATATATACTATATATACTATGTATAGTATATATAC TATATATACTATGTATAGTATATATACTATATATACTATGTATAGTATAT ATACTATATATACTATGTATAGTATATATACTATATATACTATGTATAGT ATATATACTATATATACTATGTATAGTATATATACTATATATACTATGTA TAGTATATATACTATATATACTATGTATAGTATATATACTATATATACTA TGTATAGTATATATACTATATATAC	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
INO80_chr15_40973880_41121280	41031614	G G	GAAGGGAG others(298): Show GAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAG GAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAAGGAGGAAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGGGAGGGAGAAAGGGAGGAAGGGAGGAAG GGAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02630.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0009 a0001c0002t0004 a0001c0002t0009	a0001c0002t0004g0080 a0001c0002t0009g0012 a0001c0002t0004g0080 a0001c0002t0009g0012	2	282	0.0071	305	c.290 others(324): Show c.2908-3879_2908-3878insTCCTCCCTTCCTCCCTTCCTCCCTTT CTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCTTTCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5E_chr9_136423619_136444845	136431797	T T	TCCACGCC others(298): Show TCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCGCCACGCC CGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCC CAGGCCCTCACCTCTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCT CACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCC TCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCC CACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTCTCCTCAT CTCCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG01081.hp2 HG01123.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0010 a0001c0012 a0002c0010	a0001c0012t0005 a0002c0010t0005 a0001c0012t0005 a0002c0010t0005	a0001c0012t0005g0173 a0002c0010t0005g0189 a0001c0012t0005g0173 a0002c0010t0005g0189	2	382	0.0052	305	c.154 others(320): Show c.1549+26_1549+27insTGGGAGATGAGGAGAGGTGAGGGCCTGCGG CGGGTGGGGGGAGGGTGGGCGTGGTGGGAGATGAGGAGAGGTGAGGGCCT GGGGGGGCGGGCGTGGAGGGAGATGAGGAAAGGTGAGGGCCTGGGGGGCG GGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGC GGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATG AGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGCGGGAGATGAGGAGAGG TGAGGGCCTGGGGGGGCGGGCGTGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
IQCB1_chr3_121764761_121840060	121786170	C C	CAAAAGAA others(298): Show CAAAAGAAAAGAAAAGAAAAGAAGAGAAGAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0266 a0001c0002t0004g0266	1	308	0.0033	305	c.127 others(324): Show c.1278+2113_1278+2114insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TCTTCTCTTCTTTTCTTTTCTTTTCTTTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar

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Search Results (Total: 10000 hits)