Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
SART1_chr11_65956734_65985137	65971425	T T	TGCTGAGG others(234): Show TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02717.hp2 HG01099.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0170 a0001c0002t0011g0226 a0001c0002t0002g0170 a0001c0002t0011g0226	2	384	0.0052	241	c.157 others(260): Show c.1572+3637_1572+3638insAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGT GGGATTCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971457	T T	TGAGGAGG others(234): Show TGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0111 a0002c0001t0001g0111	1	384	0.0026	241	c.157 others(260): Show c.1572+3637_1572+3638insAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCNN1B_chr16_23297302_23386294	23377574	C C	CCCTTCCT others(234): Show CCCTTCCTCCCTCCCTTCTCCCTTCCTTCCTCCCTCCCTTCTCCCTTCCT TCCTCCCTCCCTTCTCCCTTCCTTCCTTCCTTCTTTCTTCCTTCCTTCAT TCCTTCTCCCTTCCTTCCTCCCTCCCTTCTCCCTTCCTTCCTTCCTTCTT TCTTCCTTCCTTCATTCCTTCTCCCTTCCTTCCTCCCTCCCTTCTCCCTT CCTTCCTTCCTTCTTTCTTCCTTCCTTCATTCCTTCTCCCTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	306	0.0033	241	c.140 others(258): Show c.1404+218_1404+219insCCCTCCCTTCTCCCTTCCTTCCTCCCTC CCTTCTCCCTTCCTTCCTTCCTTCTTTCTTCCTTCCTTCATTCCTTCTCC CTTCCTTCCTCCCTCCCTTCTCCCTTCCTTCCTTCCTTCTTTCTTCCTTC CTTCATTCCTTCTCCCTTCCTTCCTCCCTCCCTTCTCCCTTCCTTCCTTC CTTCTTTCTTCCTTCCTTCATTCCTTCTCCCTTCCTTCCTCCCTCCCTTC TCCCTTCCTTCCT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGCZ_chr8_14079845_15243431	15119560	A A	AATTTTCT others(234): Show AATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0048 a0002c0002t0007g0048	1	102	0.0098	241	c.39+ others(260): Show c.39+118024_39+118025insCAGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAAAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SIGIRR_chr11_400716_419999	412004	T T	TCGGCCGG others(234): Show TCGGCCGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTG CCCAGCTCTGACCATGTCTGGATACAGTCGGTCGGGGTTGCCCAGCTCTG ACCATGTCTGGATACAGTCGGGGGGGGGGGGGGGTGCCCAGCTCTGACCA TGTCTGGATGCAGTCCGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATG CAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	242	0.0041	241	c.-15 others(260): Show c.-153-1978_-153-1977insGACTGTATCCAGACATGGTCAGAGCT GGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCC GGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCCCCCGAC TGTATCCAGACATGGTCAGAGCTGGGCAACCCCGACCGACTGTATCCAGA CATGGTCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCT GGGCACCCCCGGCCG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SKI_chr1_2223319_2315213	2281992	C C	CGAGAAGA others(234): Show CGAGAAGACAGGTGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCT TCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	330	0.0030	241	c.970 others(260): Show c.970-20975_970-20974insTGGTGGCGGAGATCTTCATAGAGAGG TGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC ACGTGAGAAGACAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC25A23_chr19_6435064_6464792	6435425	T T	TAAAAATT others(234): Show TAAAAATTATGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0063 a0001c0008t0002g0063	1	366	0.0027	241	c.65 others(252): Show c.6549_*6550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCAT AATTTTT	SLC25A23	ENSG00000125648.15	transcript	ENST00000301454.9	protein_coding		4638		chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6435425	T T	TAAAAATT others(234): Show TAAAAATTATGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	350	0.0029	241	c.-17 others(252): Show c.-1733_-1732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCAT AATTTTT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding		1663		chr19	TogoVar
SLC66A2_chr18_79897420_79956653	79952646	A A	AGTGAAGA others(234): Show AGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGCGCGGGTGAG GGGTGAGGGGCGCGCTGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAGTGA GGGGAGCGCGGGTGAGGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGAGTG AGGGGAGCGCGGGTGAGGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGT GAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 NA21309.hp1 HG02647.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0007g0279 a0001c0001t0007g0280	2	352	0.0057	241	c.-11 others(252): Show c.-1166_-1165insCCGCGCGCCCCTCACCCCTCACCCCTCACCCAGG CGCCCCTCACCCTTCACCGGCGCGCCCCTCACCCCTCACCCCTCACCCGC GCTCCCCTCACTCTTCACCGGCGCGCCCCTCACCCCTCACCCCTCACCCG CGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCAGCGCGCC CCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCACGCTCCCCTCAC TCTTCAC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		994		chr18	TogoVar
SNTG2_chr2_945849_1372613	1221694	T T	TCTCTAGC others(234): Show TCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTC TCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTG CCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCTG TCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTC TCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGCCTATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG03453.hp1 others(1): Show HG02486.hp1 HG02615.hp1 HG03453.hp1 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0002 a0003c0007t0001 a0003c0007t0002	a0003c0007t0001g0008 a0003c0007t0001g0104 a0003c0007t0002g0075 others(1): Show a0003c0007t0001g0008 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0007t0002g0077	4	190	0.0211	241	c.719 others(260): Show c.719+12464_719+12465insCTCTAGCTCTGCCTCTGTTAGTCCCT CTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCT CTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCT TTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGT CTCTGTCTGTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCT CTGTCTCTGCCTATC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SORCS2_chr4_7187538_7747827	7448892	C C	CTTCCTCT others(234): Show CTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCT CCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTC CCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0131 a0001c0002t0003g0131	1	168	0.0060	241	c.548 others(260): Show c.548+52538_548+52539insTCCTCTTTTCCCTCTCTCCCTCCCTT CCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCC TCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCT CCCTTCCTGTCTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(234): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	418	0.0024	241	c.54 others(252): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(234): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	418	0.0024	241	c.54 others(252): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(234): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	241	c.54 others(252): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(234): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	241	c.54 others(252): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPIRE2_chr16_89823475_89876319	89852369	C C	CTCTCACC others(234): Show CTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCC CCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG04228.hp2 HG01099.hp2 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0010 a0003c0005t0001 a0001c0001t0010 a0003c0005t0001	a0001c0001t0010g0348 a0003c0005t0001g0304 a0001c0001t0010g0348 a0003c0005t0001g0304	2	356	0.0056	241	c.645 others(258): Show c.645+1709_645+1710insTCTCACCCCCCGGATCCCATGGCCCGTC ATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCC ATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852486	C C	CTCTCACC others(234): Show CTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCC CCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0186 a0004c0004t0001g0186	1	356	0.0028	241	c.646 others(258): Show c.646-1800_646-1799insTCTCACCCCCCGGATCCCATGGCCCGTC ATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852621	C C	CTGGCCCG others(234): Show CTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCCGGATCCCATGATCCAT CTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCT CCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACC CCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCC CATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	356	0.0028	241	c.646 others(258): Show c.646-1633_646-1632insCGGATCCCATGATCCATCTTCCATCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(234): Show AGGGGAGGGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	260	0.0039	241	c.138 others(260): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTTCCCCT CCCCTCCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SUN1_chr7_827476_879934	866712	G G	GCCCCCAC others(234): Show GCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCACTGTCTC CCCACCATCTCCGTGGGCCTTCGCCCCCCCCCCCGCCCCCCGTCCCACCG GGCCTTCACCCCCACCGTCTCCCTGGGCCTTCGCCCCCACTGTCTCCCCA CCATCTCCGTGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGGC CTTCGCCCCCACTGTCTCCCCACCATCTCCATGGGCCTTCGC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0359 a0003c0003t0001g0359	1	418	0.0024	241	c.198 others(258): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCGTGGGCCT TCGCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCCCCCCC GCCCCCCGTCCCACCGGGCCTTCACCCCCACCGTCTCCCTGGGCCTTCGC CCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCACTGTCTCCC CACCATCTCCGTGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCATGG GCCTTCGCCCCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(234): Show TATATACACATATGTGTACATATGTGTATATATACATATATACACATATA TATGTATATATACACATATGTGAATATGTATGTGTTATATATACACATAT GTGTATATGTATATATGTATATATACACATATGTGTATATATACATATAT ACATATACACATATGTGTATATATAACACATATATATACACATATGTGTA TATATACATATATACATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0046 a0001c0011t0046	a0001c0011t0046g0059 a0001c0011t0046g0059	1	376	0.0027	241	c.158 others(260): Show c.1582-2860_1582-2859insCACATATGTGTACATATGTGTATATA TACATATATACACATATATATGTATATATACACATATGTGAATATGTATG TGTTATATATACACATATGTGTATATGTATATATGTATATATACACATAT GTGTATATATACATATATACATATACACATATGTGTATATATAACACATA TATATACACATATGTGTATATATACATATATACATATACACATATGTGTA TATATAACACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT17_chr16_19163240_19273332	19252349	C C	CCATCTTG others(234): Show CCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATTCTCCC ACCTCAGCCTCCCAAGTTGCTGAGACTACAGGTGCACACAACTATGCCCA GCTAATTTTTGTATTTTTAATAGAGACGGAGTTTCACCATATTGCCCAGG CTGGTCTCGAACTCTTGAGCTCCAGCGATCCACCCTCCTTGGCCTCCCAA AGTGCTGGGATTCCAGGAGTGAGCCACCGTGTGTGGCTGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA21309.hp2 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0058 a0001c0001t0046 a0001c0001t0058	a0001c0001t0046g0096 a0001c0001t0058g0058 a0001c0001t0046g0096 a0001c0001t0058g0058	2	324	0.0062	241	c.122 others(262): Show c.1229-14528_1229-14527insCTTGGCTCACTGCAACCTCTGCCT CCCAGGCTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTTGCTGAGACTA CAGGTGCACACAACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACG GAGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCTTGAGCTCCAGCGA TCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGAGTGAGCCACC GTGTGTGGCTGAGACAT	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYT17_chr16_19163240_19273332	19252349	C C	CCATCTTG others(234): Show CCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATTCTCCC ACCTCAGCCTCCCAAGTTGCTGAGACTACAGGTGCACACAACTATGCCTA GCTAATTTTTGTATTTTTAATAGAGACGGAGTTTCACCATATTGCCCAGG CTGGTCTCGAACTCTTGAGCTCCAGCGATCCACCCTCCTTGGCCTCCCAA AGTGCTGGGATTCCAGGAGTGAGCCACCGTGTGTGGCTGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0273 a0001c0001t0005g0273	1	324	0.0031	241	c.122 others(262): Show c.1229-14528_1229-14527insCTTGGCTCACTGCAACCTCTGCCT CCCAGGCTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTTGCTGAGACTA CAGGTGCACACAACTATGCCTAGCTAATTTTTGTATTTTTAATAGAGACG GAGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCTTGAGCTCCAGCGA TCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGAGTGAGCCACC GTGTGTGGCTGAGACAT	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYT9_chr11_7246904_7474043	7288647	T T	TTTACCGC others(234): Show TTTACCGCCAAAAGATAAAATTTGAAATCTGGTTAGGCTGGTGTTAGGGT TCTTTGTTTTTGGGGTTTGGCAGAGATGTGTTTAAGTGCTGTGGCCAGAA GCGGGGGGAGGGGGGGTTTGGTGGAAATTTTTTGTTATGATGTCTGTGTG GAAAGCGGCTGTGCAGACATTTAATTGTTATTATTATGTCCTACAAGCAT TAATTAATTAACACACTTTAGTAAGTATGTTCGCCTATAATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	272	0.0037	241	c.146 others(260): Show c.146-14390_146-14389insACCGCCAAAAGATAAAATTTGAAATC TGGTTAGGCTGGTGTTAGGGTTCTTTGTTTTTGGGGTTTGGCAGAGATGT GTTTAAGTGCTGTGGCCAGAAGCGGGGGGAGGGGGGGTTTGGTGGAAATT TTTTGTTATGATGTCTGTGTGGAAAGCGGCTGTGCAGACATTTAATTGTT ATTATTATGTCCTACAAGCATTAATTAATTAACACACTTTAGTAAGTATG TTCGCCTATAATATT	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
TBXAS1_chr7_139824264_140025293	139950680	A A	ACCCCCTC others(234): Show ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0136 a0011c0008t0001g0136	1	270	0.0037	241	c.451 others(258): Show c.451-2558_451-2557insCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF3_chr19_1604292_1657615	1628292	G G	GTGAGGCG others(234): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGTGGGGCGGGAAGGGGACAGCAGAACTCACAGGGGATGAGGCGGGAAGG GGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0330 a0001c0002t0005g0330	1	352	0.0028	241	c.299 others(256): Show c.299-867_299-866insTCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGTTCTGCTGTCCCCT TCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628666	A A	AGGGGGTG others(234): Show AGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGC GGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0010 a0003c0006t0010	a0003c0006t0010g0141 a0003c0006t0010g0141	1	352	0.0028	241	c.299 others(258): Show c.299-1241_299-1240insGTGAGCTCTACTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCT ACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCG CCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTC CCGCCTCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628737	G G	GGGGGTGA others(234): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAA AGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0090 a0001c0007t0090	a0001c0007t0090g0306 a0001c0007t0090g0306	1	352	0.0028	241	c.299 others(258): Show c.299-1312_299-1311insGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAG CTCTGCTGTCCCCTTTCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628805	C C	CGGGGGTG others(234): Show CGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGGA AGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAAC TCACAGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGGAAGGGGACAGCAGA GCTCACAGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0321 a0001c0004t0021g0321	1	352	0.0028	241	c.299 others(258): Show c.299-1380_299-1379insCGTGAGCTCTGCTGTCCCCTTCCCACCC CATCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCTGTGAGTTCTGCTGTCCCCTTCCCG CCTCACCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAG CTCTGCTGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTC CTGCCCCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273782	C C	CACGACCG others(234): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTACGAC CGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0199 a0001c0017t0002g0199	1	392	0.0026	241	c.228 others(260): Show c.2287-1503_2287-1502insTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(234): Show CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCCACAACCGCCATCCAC AGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACATC AGACCCTACGACCGCCATCCACAGTCACCACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	392	0.0026	241	c.228 others(260): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TFDP2_chr3_141939428_142154544	141968402	T T	TAACATAA others(234): Show TAACATAACATATATATAACATATATCTCATATATATAACATATATCTCA TATATAACATATATATCTCATATATAGATATATATATAACATATATATCT CATATATAGATATATATAACATATATATATCTCATATATATAGATATATA TAACATATATATCTCATATATATAGATATATATAACATATATATATCTCA TATATATAGATATATATAACATATATATATCTCATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0161 a0001c0001t0088g0161	1	252	0.0040	241	c.732 others(258): Show c.732+1670_732+1671insTATATATATGAGATATATATATGTTATA TATATCTATATATATGAGATATATATATGTTATATATATCTATATATATG AGATATATATGTTATATATATCTATATATATGAGATATATATATGTTATA TATATCTATATATGAGATATATATGTTATATATATATCTATATATGAGAT ATATATGTTATATATGAGATATATGTTATATATATGAGATATATGTTATA TATATGTTATGTT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
THBS3_chr1_155190588_155212897	155190951	G G	GTGTCCGG others(234): Show GTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGG GGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGG TGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCT GCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGAC ACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01109.hp2 others(8): Show HG00733.hp2 HG01069.hp2 HG01109.hp2 HG01167.hp2 HG01257.hp2 HG01258.hp2 HG02559.hp1 HG02886.hp1 HG03669.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0030	11	298	0.0369	241	c.48 others(252): Show c.4889_*4890insAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAG CCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACC GCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCC GGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCA GGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCGGCC CCGGACA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4636		chr1	TogoVar
THBS3_chr1_155190588_155212897	155190979	T T	TGGGGGGG others(234): Show TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGA CACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	241	c.48 others(252): Show c.4861_*4862insCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAG GCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCC CGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTC ACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGC CCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCG CCCCCCC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4608		chr1	TogoVar
THBS3_chr1_155190588_155212897	155191072	G G	GTCCGGGG others(234): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGT GGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTG CGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACA CCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	298	0.0034	241	c.47 others(252): Show c.4768_*4769insGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCC CGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGG CCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4515		chr1	TogoVar
TMEM242_chr6_157284025_157328519	157312448	C C	CTCAGCAT others(234): Show CTCAGCATAGTGTCCTTTTATCCGCTCACCTAGCCTCATCAAAGTGCCCC AGTGTACGCTCACCTAGCCTCATCACACTGCCCCAGTGTGCGCTCACCTA ACCTCATCATAGTGTCCCATTGTGCGTTCACCTAGCCGCATCAGAGTGTC CCAGTGTGTGCTCACCCGGCCTCATCATAGTGGCCCAGTGTACACTCACC TGGCCTCATTATACTGTCCCAGTGTGCACTCACCCGGCCTCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	344	0.0029	241	c.327 others(258): Show c.327+6333_327+6334insTGAGGCCGGGTGAGTGCACACTGGGACA GTATAATGAGGCCAGGTGAGTGTACACTGGGCCACTATGATGAGGCCGGG TGAGCACACACTGGGACACTCTGATGCGGCTAGGTGAACGCACAATGGGA CACTATGATGAGGTTAGGTGAGCGCACACTGGGGCAGTGTGATGAGGCTA GGTGAGCGTACACTGGGGCACTTTGATGAGGCTAGGTGAGCGGATAAAAG GACACTATGCTGA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS9_chr19_2355265_2431261	2418739	C C	CCCTTTCC others(234): Show CCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTTCCCTTCCTTCCCT CCCTCCCTTTCCTTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCCT TCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCTCCCT CCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCT TCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTACCTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0111 a0016c0016t0001g0111	1	114	0.0088	241	c.215 others(258): Show c.2154+614_2154+615insGCCTTCCCTTCCTCCCTTTCCTTCCCTT CCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCCTTCCCTCCCTACCTTT CCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATT CCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTC CGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTACCTTT CCTTTCCTTCCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(234): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGGAGGGG AGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGGAGGAA AGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	320	0.0031	241	c.612 others(256): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCC CTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCCC CTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCC GTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTT CTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNS1_chr2_217794791_218007995	217805513	A A	ACACCACA others(234): Show ACACCACACACACCACACACACACCACACACACCACCACACACACACACA CACCACACACACCACCACACACCACACACACCACCACACACACCACACAC ACAACACACACCACCACACACCACACACACCACCACACACACACACCACC ACACACACCACCACACACACCACACACACAACACCACACACCACACACAC ACCACACACACACCACACACACCACACACACACCACACACAC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0082 a0001c0037t0082	a0001c0037t0082g0110 a0001c0037t0082g0110	1	244	0.0041	241	c.537 others(258): Show c.5376-911_5376-910insGTGTGTGTGGTGTGTGTGTGGTGTGTGT GGTGTGTGTGTGGTGTGTGTGTGGTGTGTGGTGTTGTGTGTGTGGTGTGT GTGGTGGTGTGTGTGGTGGTGTGTGTGTGTGGTGGTGTGTGTGGTGTGTG GTGGTGTGTGTTGTGTGTGTGGTGTGTGTGGTGGTGTGTGTGGTGTGTGG TGGTGTGTGTGGTGTGTGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGTGT GGTGTGTGTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TP53AIP1_chr11_128930370_128947871	128930749	G G	GGGAGGCC others(234): Show GGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0083 a0001c0001t0014g0083	1	466	0.0022	241	c.48 others(252): Show c.4841_*4842insTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTA CCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCC GGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4620		chr11	TogoVar
TRIM46_chr1_155168849_155189970	155189518	G G	GGCGGGTG others(234): Show GGCGGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCG TGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGA GGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCC GGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	348	0.0029	241	c.53 others(252): Show c.5328_*5329insGCGGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGG GCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCT GGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCG GGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGCGGGC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4549		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155189518	G G	GGCGGTGG others(234): Show GGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGT GGGCTGGGGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGA GGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCT CCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCC GGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	348	0.0029	241	c.53 others(252): Show c.5328_*5329insGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTGGGGGGCGCGGTGGAGCCCGGGGCCGGCCT GGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGCGGGC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4549		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155189518	G G	GGCGGTGG others(234): Show GGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGT GGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAG GTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCC GGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	348	0.0029	241	c.53 others(252): Show c.5328_*5329insGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCG GGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGCGGGC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4549		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155189518	G G	GGCGGTGG others(234): Show GGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGT GGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAG GTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCC GGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	348	0.0029	241	c.53 others(252): Show c.5328_*5329insGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCG GGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGCGGGC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4549		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155189518	G G	GGCGGTGG others(234): Show GGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGT GGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGA GGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCT CCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCC GGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	348	0.0029	241	c.53 others(252): Show c.5328_*5329insGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCT GGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGCGGGC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4549		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155189518	G G	GGCGGTGG others(234): Show GGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGT GGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGA GGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCC GGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	348	0.0029	241	c.53 others(252): Show c.5328_*5329insGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCT GGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCG GGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGCGGGC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4549		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155189872	T T	TGGGGGGG others(234): Show TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGA CACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	348	0.0029	241	c.56 others(252): Show c.5682_*5683insGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCC GGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGA GCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGG GCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCG TGGGCTG	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4903		chr1	TogoVar
TRIML1_chr4_188134441_188152743	188151871	A A	AGAGTGGG others(234): Show AGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGGTGAGA GTGGGGCTGAGAAGGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGA GAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	228	0.0044	241	c.44 others(252): Show c.4499_*4500insGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGA GAAGGGAAGGTGAGAGTGGGGCTGAGAAGGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAG AAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4129		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151923	T T	TGGGGGTG others(234): Show TGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTG GGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGA GAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	228	0.0044	241	c.45 others(252): Show c.4551_*4552insGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGA AGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGG GGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGT GAGAGTG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4181		chr4	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(234): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TGTATATATATATGTATATATATACGTATATATACGTATATATATACGTA TATATATATGTATATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	186	0.0054	241	c.114 others(262): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACGTATATA TATACATATATATATACATATATATACGTATATATACGTATATATATACA TATATATACGTATATATATACGTATATATATACATATATATACATATATA TATACGTATATATATATACATATATATACGTATATAATATATACGTATAT ATATATACATATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar

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