Joint Open Genome and Omics Platform (JoGo)

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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

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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
SIGIRR_chr11_400716_419999	401443	C C	CGGACCCG others(226): Show CGGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03492.hp2 HG03017.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0068 a0001c0001t0001g0090	2	242	0.0083	233	c.44 others(244): Show c.4452_*4453insCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4272		chr11	TogoVar
SIGIRR_chr11_400716_419999	401443	C C	CGGCCCCG others(226): Show CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01346.hp1 HG01346.hp2 others(10): Show HG00323.hp1 HG01346.hp1 HG01346.hp2 HG01934.hp2 HG01975.hp1 HG02074.hp1 HG02300.hp1 HG02451.hp1 HG02976.hp1 HG03704.hp1 HG06807.hp2 NA18983.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0133 a0001c0001t0001g0148 a0004c0005t0001g0016 a0004c0005t0001g0087	13	242	0.0537	233	c.44 others(244): Show c.4452_*4453insCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4272		chr11	TogoVar
SIGIRR_chr11_400716_419999	401443	C C	CGGCCCCG others(226): Show CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG02486.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0001t0001g0147 a0001c0001t0001g0177	2	242	0.0083	233	c.44 others(244): Show c.4452_*4453insCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGCCGGGGGTGAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4272		chr11	TogoVar
SIGIRR_chr11_400716_419999	401443	C C	CGGCCCCG others(226): Show CGGCCCCGCTCACACCCGGCCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02074.hp2 HG03017.hp2 others(1): Show HG00099.hp2 HG02074.hp2 HG03017.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0085	4	242	0.0165	233	c.44 others(244): Show c.4452_*4453insCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGCCGGGTGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4272		chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305356	G G	GAGGGAGG others(226): Show GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	360	0.0028	233	c.173 others(252): Show c.1735-8335_1735-8334insAGGGAGGTGGGGGGGTCAGCCCTCCG CCCGGCCAACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGT	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9			chr5	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(226): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAA TCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTG GTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp1 HG02895.hp1 HG03486.hp1	a0001 a0015 a0001 a0015	a0001c0002 a0015c0036 a0001c0002 a0015c0036	a0001c0002t0001 a0015c0036t0001 a0001c0002t0001 a0015c0036t0001	a0001c0002t0001g0069 a0015c0036t0001g0070 a0001c0002t0001g0069 a0015c0036t0001g0070	2	190	0.0105	233	c.72+ others(250): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTC CCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCC TCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(226): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA20752.hp2 HG00741.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0047 a0001c0001t0015 a0001c0001t0047	a0001c0001t0015g0250 a0001c0001t0047g0098 a0001c0001t0015g0250 a0001c0001t0047g0098	2	356	0.0056	233	c.-11 others(254): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(226): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGAAGGGGAAGGGGG AGGGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGAGGAGGG GGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAAG GGGGGAGGGGAGATGGGGAGGGGGAGGGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0038 a0001c0003t0009g0038	1	251	0.0040	233	c.35 others(242): Show c.353_*354insGCTTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCCT TCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCTCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCC CCCTTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCCTTCCCCCTCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(226): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCTCCT CCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCC TCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	233	c.54 others(244): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(226): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCC TCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	233	c.54 others(244): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(226): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCC TCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	418	0.0024	233	c.54 others(244): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(226): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCC TCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	233	c.54 others(244): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(226): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCC TCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03239.hp2 HG02735.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0002 a0001c0001t0016g0057 a0001c0001t0002g0002 a0001c0001t0016g0057	2	418	0.0048	233	c.54 others(244): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPIRE2_chr16_89823475_89876319	89852212	C C	CCCCACCC others(226): Show CCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCC AGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCA TCCTCCCCCCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCA CCCCCCAGATCCCATGGCCCATCTTCCATCCTCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	356	0.0028	233	c.645 others(250): Show c.645+1555_645+1556insACCCCCCAGATCCCATGGCCCATCTTCC ATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCC ACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGAT CCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCATGGCCCA TCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCT CTCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPTSSA_chr14_34427788_34467240	34443500	G G	GAGGAGGG others(226): Show GAGGAGGGTGTTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAG ATGGAGTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGC TCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGG GAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGT GCTTTGAGATGGAGTTTTCCTCTCATTACCCAGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp1 HG02818.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0325 a0001c0001t0009g0326 a0001c0001t0009g0325 a0001c0001t0009g0326	2	344	0.0058	233	c.113 others(250): Show c.113-8197_113-8196insGCTGGGTAATGAGAGGAAAACTCCATCT CAAAGCACACACAAACACACACACACACACACACACACACACACACACAC ACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTG CAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAGAGGAAA CTCCATCTCAAAACACACACAAACACACACACACACACACACACAACACC CTCCT	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443508	T T	TGTTGTGT others(226): Show TGTTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAGTT TCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCA ACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGGGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTG AGATGGAGTTTTCCTCTCATTACCCAGCTGGAGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0011 a0001c0001t0017g0011	1	344	0.0029	233	c.113 others(250): Show c.113-8205_113-8204insCCTCCAGCTGGGTAATGAGAGGAAAACT CCATCTCAAAACACACACACACACACACACACACACACACACACACACAC ACACACACCCCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGC AGAGGTTGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATG AGAGGAAACTCCATCTCAAAACACACACAAACACACACACACACACACAC ACAAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
STK33_chr11_8386870_8599228	8572010	T T	TAAAATTA others(226): Show TAAAATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAAT TTTAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATT AAAATTAAATTTTAATTTTAAAAAATTTAAATTAAAATTAAATTTTAATT TTAAAAAATTTAAATTAAAATTAAATTTTAATTTTAAAAAATTTAAATTA AAATTAAATTTTAATTTTAAAAAAATTTAAATTA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	334	0.0030	233	c.-46 others(254): Show c.-466+22072_-466+22073insTAATTTAAATTTTTTTAAAATTAA AATTTAATTTTAATTTAAATTTTTTAAAATTAAAATTTAATTTTAATTTA AATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAA ATTTAATTTTAATTTAAATTTTTTAAAATTAAAATTTAATTTTAATTTAA ATTTTTTAAAATTAAAATTTAATTTTAATTTAAATTTTTTAAAATTAAAA TTTAATTTT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
SV2C_chr5_76078383_76338956	76172288	T T	TGGGGGGG others(226): Show TGGGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0202 a0001c0001t0081g0202	1	234	0.0043	233	c.581 others(252): Show c.581-22620_581-22619insGTCGGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYT17_chr16_19163240_19273332	19252354	T T	TTGGCTCA others(226): Show TTGGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATTCTCCCACCTC AGCCTCCCAAGTTGCTGAGACTACAGGTGCACACAACTATGCCCAGCTAA TTTTTGTATTTTTAATAGAGACGGAGTTTCACCATATTGCCCAGGCTGGT CTCGAACTCTTGAGCTCCAGCGATCCACCCTCCTTGGCCTCCCAAAGTGC TGGGATTCCAGGAGTGAGCCACCGTGTGTGGCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 HG02922.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0024 a0001c0001t0019 a0001c0001t0024	a0001c0001t0019g0021 a0001c0001t0024g0315 a0001c0001t0019g0021 a0001c0001t0024g0315	2	324	0.0062	233	c.122 others(254): Show c.1229-14526_1229-14525insTGGCTCACTGCAACCTCTGCCTCC CAGGCTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTTGCTGAGACTACA GGTGCACACAACTATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGA GTTTCACCATATTGCCCAGGCTGGTCTCGAACTCTTGAGCTCCAGCGATC CACCCTCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGAGTGAGCCACCGT GTGTGGCTG	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7			chr16	TogoVar
SYT17_chr16_19163240_19273332	19252354	T T	TTGGCTCA others(226): Show TTGGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATTCTCCCACCTC AGCCTCCCAAGTTGCTGAGACTACAGGTGCACACAACTATGCCTAGCTAA TTTTTGTATTTTTAATAGAGACGGAGTTTCACCATATTGCCCAGGCTGGT CTCGAACTCTTGAGCTCCAGCGATCCACCCTCCTTGGCCTCCCAAAGTGC TGGGATTCCAGGAGTGAGCCACCGTGTGTGGCTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0039 a0001c0004t0022g0039	1	324	0.0031	233	c.122 others(254): Show c.1229-14526_1229-14525insTGGCTCACTGCAACCTCTGCCTCC CAGGCTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTTGCTGAGACTACA GGTGCACACAACTATGCCTAGCTAATTTTTGTATTTTTAATAGAGACGGA GTTTCACCATATTGCCCAGGCTGGTCTCGAACTCTTGAGCTCCAGCGATC CACCCTCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGAGTGAGCCACCGT GTGTGGCTG	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7			chr16	TogoVar
TCF3_chr19_1604292_1657615	1628118	C C	CGGGGTGA others(226): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18989.hp1 NA19060.hp2 NA18945.hp2 NA18989.hp1 NA19060.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0016 a0002c0001t0056 a0002c0001t0006 a0002c0001t0016 a0002c0001t0056	a0002c0001t0006g0067 a0002c0001t0016g0051 a0002c0001t0056g0206 a0002c0001t0006g0067 a0002c0001t0016g0051 a0002c0001t0056g0206	3	352	0.0085	233	c.299 others(248): Show c.299-693_299-692insTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272715	A A	ACATCAGA others(226): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACAACCGCCATCCACAGTCACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACATCAGACCCCACAACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0291 a0001c0003t0001g0291	1	392	0.0026	233	c.228 others(250): Show c.2287-436_2287-435insACTGTGGATGGCGGTTGTGGGGTCTGAT GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272855	C C	CCACACAT others(226): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCC ACAACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTC ACATCAGACCCCCACAACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	392	0.0026	233	c.228 others(250): Show c.2287-576_2287-575insGTGACTGTGGATGGCGGTTGTGGGGGTC TGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGC GGTTGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACAACCG others(226): Show CACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATC AGACCCCACGACCACCATCCACAGTCACCACACA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	392	0.0026	233	c.228 others(250): Show c.2287-661_2287-660insTGTGTGGTGACTGTGGATGGTGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTTGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273056	C C	CACGACCG others(226): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	392	0.0026	233	c.228 others(250): Show c.2287-777_2287-776insTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273056	C C	CACGACCG others(226): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	392	0.0026	233	c.228 others(250): Show c.2287-777_2287-776insTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273451	C C	CACGACCG others(226): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	392	0.0026	233	c.228 others(252): Show c.2287-1172_2287-1171insTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273451	C C	CACGACCG others(226): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0344 a0001c0003t0001g0344	1	392	0.0026	233	c.228 others(252): Show c.2287-1172_2287-1171insTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THNSL2_chr2_88165346_88191627	88181221	C C	CCTCTCTC others(226): Show CCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCCTCTCTCTCTC TCTCTCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCT CTCCTCTCTCTCCTCTCTTTCTCCTCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0008 a0001c0003t0003g0008	1	54	0.0185	233	c.803 others(250): Show c.803-1471_803-1470insTCTCCTCTCTCTTCTCTCTCTCCTCTCT CTCCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTTTCTCCTCTCTCCTCTCT CTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIMM22_chr17_992129_1008671	993432	A A	ATAATCCA others(226): Show ATAATCCACCCTCACATAATCCACCCCTCACATAATCCACCTCACATAAT CCACCCACACTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCACC CTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCCACATA ATCCACCTCACATAATCCACCCTCCATAATCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	439	0.0023	233	c.-37 others(244): Show c.-3711_-3710insTAATCCACCCTCACATAATCCACCCCTCACATAA TCCACCTCACATAATCCACCCACACTCACATAATCCACCTCACATAATCC ACCCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCCTC ACATAATCCACCACCCTCACATAATCCACCTCACATAATCCACCTCACAT AATCCACCCCACATAATCCACCTCACATAATCCACCCTCCATAATCCAC	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3696		chr17	TogoVar
TMC6_chr17_78102397_78133755	78115723	G G	GGCGAAGG others(226): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCAGAGAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0160	1	444	0.0023	233	c.227 others(252): Show c.2277+1545_2277+1546insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTCTCT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMTC2_chr12_82681906_83139866	82900601	T T	TGTATATA others(226): Show TGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCC GGAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGT AGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACA TATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGA TCTGTAGGAATGTATATACATATCCGGAATATAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	96	0.0104	233	c.148 others(252): Show c.1483+3955_1483+3956insGTATATACATATCCGGAATATAGATC TGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATAT ACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATAT AGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATG TATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGG AATATAG	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11			chr12	TogoVar
TNR_chr1_175310194_175748595	175650961	C C	CCTCCCCA others(226): Show CCTCCCCACCTCATTATTCCACCTTCCCCACCTCATTACTACCCCTCCCC ACCTCATTACTACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACT ACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACCCCTCCCCA TCTCATTACTCCTCCTCCCCCATCTCATTACTACCTGTCCCCCACCTCCT TACTACCCCTCCCCCACCTCATTACTACCCATCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0065 a0001c0014t0065	a0001c0014t0065g0108 a0001c0014t0065g0108	1	132	0.0076	233	c.-16 others(254): Show c.-165+92264_-165+92265insAGATGGGTAGTAATGAGGTGGGGG AGGGGTAGTAAGGAGGTGGGGGACAGGTAGTAATGAGATGGGGGAGGAGG AGTAATGAGATGGGGAGGGGTAGTAATGAGGTGGGGGGGAGTAATGAGAT GGGGAGGGGTAGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTA GTAATGAGGTGGGGAGGGGTAGTAATGAGGTGGGGAAGGTGGAATAATGA GGTGGGGAG	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TP53AIP1_chr11_128930370_128947871	128930772	A A	AGGGGTTA others(226): Show AGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCAGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCCAGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0104 a0001c0007t0001g0104	1	466	0.0022	233	c.48 others(244): Show c.4818_*4819insCTGGCCTCCCTGACCCCTGGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCT CCCTAACCCCTGGCCTCCCTGACCCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCTGCCTCCCTAACCCCTGGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4597		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069512	T T	TGGGAGCA others(226): Show TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCGCAGTGGAAGCAGGACCGTCTGAGTC CTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTTA CCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGA GCAGGACCGTCTCAGTCCTAGCAAGTGACACAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(85): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01099.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02040.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02293.hp1 HG02559.hp1 HG02622.hp2 HG02683.hp2 HG02922.hp1 HG03098.hp2 HG03669.hp2 HG04115.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18954.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0009 a0021	a0003c0003 a0003c0020 a0003c0025 others(5): Show a0003c0003 a0003c0020 a0003c0025 a0003c0042 a0004c0006 a0005c0004 a0009c0012 a0021c0026	a0003c0003t0002 a0003c0003t0039 a0003c0020t0002 others(13): Show a0003c0003t0002 a0003c0003t0039 a0003c0020t0002 a0003c0025t0002 a0003c0042t0002 a0004c0006t0002 a0004c0006t0007 a0004c0006t0009 a0004c0006t0018 a0004c0006t0036 a0004c0006t0037 a0005c0004t0008 a0005c0004t0032 a0005c0004t0038 a0009c0012t0002 a0021c0026t0002	a0003c0003t0002g0009 a0003c0003t0002g0014 a0003c0003t0002g0027 others(65): Show a0003c0003t0002g0009 a0003c0003t0002g0014 a0003c0003t0002g0027 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0107 a0003c0003t0002g0108 a0003c0003t0002g0110 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0158 a0003c0003t0002g0166 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0039g0127 a0003c0020t0002g0115 a0003c0020t0002g0164 a0003c0025t0002g0136 a0003c0042t0002g0099 a0004c0006t0002g0159 a0004c0006t0007g0150 a0004c0006t0009g0016 a0004c0006t0009g0190 a0004c0006t0018g0015 a0004c0006t0036g0218 a0004c0006t0037g0191 a0005c0004t0008g0010 a0005c0004t0008g0081 a0005c0004t0008g0109 a0005c0004t0008g0122 a0005c0004t0008g0138 a0005c0004t0008g0140 a0005c0004t0008g0151 a0005c0004t0008g0180 a0005c0004t0008g0225 a0005c0004t0032g0163 a0005c0004t0038g0139 a0009c0012t0002g0028 a0009c0012t0002g0032 a0009c0012t0002g0114 a0021c0026t0002g0193	88	404	0.2178	233	c.830 others(248): Show c.830-881_830-880insGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGAAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTTACCGCAGTGGGAGCAGGAC TGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTCAGTCC TAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACC GCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069512	T T	TGGGAGCA others(226): Show TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTC CTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGA CCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGA GCAGGACCGTCTGAGTCCTAGCAAGTGACACAGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02071.hp1 NA18939.hp2 others(6): Show HG00621.hp2 HG02071.hp1 NA18939.hp2 NA18964.hp1 NA18971.hp2 NA19057.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0021 a0002c0002 a0012c0021	a0002c0002t0001 a0002c0002t0023 a0002c0002t0026 others(1): Show a0002c0002t0001 a0002c0002t0023 a0002c0002t0026 a0012c0021t0001	a0002c0002t0001g0003 a0002c0002t0023g0003 a0002c0002t0026g0003 others(2): Show a0002c0002t0001g0003 a0002c0002t0023g0003 a0002c0002t0026g0003 a0012c0021t0001g0222 a0012c0021t0001g0253	9	404	0.0223	233	c.830 others(248): Show c.830-881_830-880insGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC CGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCC TAGCAAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACC GCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069546	C C	CGCAGTGG others(226): Show CGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAG CAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCT GAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGCA AGTGACACAGGGGGAGCAGGACTGTCTGAGTCCTAGCAAGTGACCGCAGT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0175 a0006c0007t0006g0175	1	404	0.0025	233	c.830 others(248): Show c.830-881_830-880insGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC CGTCTGAGTCCTAGCAAGTGACACAGGGGGAGCAGGACTGTCTGAGTCCT AGCAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACT GCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069664	G G	GCAGTGGG others(226): Show GCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGC AGGACCGTCTGAGTCCTAGCAAGTGACACAGGGGGAGCAGGACCGTCTGA GTCCTAGGAAGTGACCGCAATGGGAGCAGGACCGTCTGAGTCCTAGGAAG TGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTG GGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03471.hp2 HG03579.hp1 HG02486.hp2 HG03471.hp2 HG03579.hp1	a0002 a0004 a0016 a0002 a0004 a0016	a0002c0027 a0004c0008 a0016c0036 a0002c0027 a0004c0008 a0016c0036	a0002c0027t0001 a0004c0008t0017 a0016c0036t0001 a0002c0027t0001 a0004c0008t0017 a0016c0036t0001	a0002c0027t0001g0186 a0004c0008t0017g0184 a0016c0036t0001g0187 a0002c0027t0001g0186 a0004c0008t0017g0184 a0016c0036t0001g0187	3	404	0.0074	233	c.830 others(248): Show c.830-725_830-724insGTGGGAGCAGGACCGTCTGAGTCCTAGCAA GTGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAATG GGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACC GTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACCACAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACC GCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPSD1_chr16_1251069_1264008	1254974	A A	ACCATGGG others(226): Show ACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCT GGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCA TGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGG CTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGGCTGGGGGTGAGT CCATGGGGAGCTGGGCTGGGGCTGGGGGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0095 a0010c0016t0095	a0010c0016t0095g0001 a0010c0016t0095g0001	1	270	0.0037	233	c.-13 others(244): Show c.-1307_-1306insCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCC ATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGG GCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGG GGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTG GGGCTGGGGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGGTGAGT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1094		chr16	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(226): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATAACATGATGATATGATACTATATCATCATATAACATGATGATA TGATACTATATCATCATATAACATGATGATATGATACTATATCATCATAT AACATGATGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0062 a0001c0001t0083g0062	1	174	0.0058	233	c.41- others(250): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT AACATGATGATATGATACTATATCATCATATAACATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATATAACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
UBE2U_chr1_64198623_64272368	64201499	T T	TGCCCCGT others(226): Show TGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	330	0.0030	233	c.-25 others(244): Show c.-2552_-2551insGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2123		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201499	T T	TGCCCCGT others(226): Show TGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02523.hp2 HG00673.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0040 a0001c0001t0001g0062	2	330	0.0061	233	c.-25 others(244): Show c.-2552_-2551insGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC ACCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2123		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201499	T T	TGCCCCGT others(226): Show TGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	330	0.0030	233	c.-25 others(244): Show c.-2552_-2551insGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGCC	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2123		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201499	T T	TGCCCCGT others(226): Show TGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp1 others(123): Show HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02622.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19057.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0002c0003 others(1): Show a0001c0001 a0001c0011 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0011t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0005g0125 a0001c0011t0001g0060 a0002c0003t0001g0045 a0002c0003t0001g0050 a0002c0003t0001g0081 a0003c0004t0001g0008 a0003c0004t0001g0131 a0003c0004t0001g0132 a0003c0004t0001g0133 a0003c0004t0001g0143 a0003c0004t0001g0144 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0147 a0003c0004t0001g0151	126	330	0.3818	233	c.-25 others(244): Show c.-2552_-2551insGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2123		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201534	G G	GCCGCCCC others(226): Show GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTCGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02723.hp2 NA18906.hp1 HG02559.hp1 HG02723.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0004g0285 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0004g0285	3	330	0.0091	233	c.-25 others(244): Show c.-2517_-2516insCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCTCGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGC	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2088		chr1	TogoVar
ULK1_chr12_131889622_131928150	131917277	C C	CGGCTCGG others(226): Show CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGG ATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA TGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTGG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	344	0.0029	233	c.218 others(250): Show c.2183-116_2183-115insTGGGGGTCGGGTGGGGCTTGGAGGCTGT GGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VAV2_chr9_133756894_133997324	133828435	G G	GGGCTGAC others(226): Show GGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAG GCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGTGCCCACTGAGGC TGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGGGGCTG ACCACTGAGCACGGGCATCGCCAACTACTGCTGTGCCCACTGAGGCTGAC CACGGGCATCGCCAACTACTGCTGTGCCCACTGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0146 a0002c0005t0001g0146	1	200	0.0050	233	c.449 others(250): Show c.449+5836_449+5837insTCAGTGGGCACAGCAGTAGTTGGCGATG CCCGTGGTCAGCCTCAGTGGGCACAGCAGTAGTTGGCGATGCCCGTGCTC AGTGGTCAGCCCCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAG TGGTCAGCCTCAGTGGGCACAGCGGTAGGTGGTGATGCCCCCGCTCAGTG GTCAGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGT CAGCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(226): Show TCGCCCCTCACTAGTCACATATCAAATCTTGGCTGACCCCTTACTAGTCA CATATCGAATCCTGGCTCGCCCCTCACTAGTCACATATCGAATCCTGGCT TGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCA CATATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCT TGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0040	a0001c0006t0040g0002 a0001c0006t0040g0002	1	232	0.0043	233	c.87 others(244): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTCGATATGTGACTAGTGAGGGGCGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGGCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8794		chr17	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(226): Show ATATATAATATATATATATAATATATATATATATTATATATATATATAAT ATATATATATATTATATATATATATAATATATATATTATATATATATTAT ATATATATAATATATATTATATATATATAATATATATATAATATATATAT ATTATATATATATAATATATATATTATATATATATAATATATATATATAT TATATATATTATATATATATAATATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0036 a0036	a0036c0040 a0036c0040	a0036c0040t0002 a0036c0040t0002	a0036c0040t0002g0068 a0036c0040t0002g0068	1	330	0.0030	233	c.38 others(244): Show c.3884_*3885insATTATATATATATTATATATATATAATATATATA ATATATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATATTATATATATATTATATATATATAATATATATTATATATAT ATAATATATATATAATATATATATTATATATATATATAATATATATATAT ATTATATATATATATAATATATATATATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(226): Show ATATATAATATATATATATAATATATATATATATTATATATATATATATT ATATATATATATTATATATATATATAATATATATATTATATATATATTAT ATATATATAATATATATTATATATATATAATATATATATAATATATATAT ATTATATATATATAATATATATATTATATATATATAATATATATATATAT TATATATATTATATATATATAATATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	330	0.0030	233	c.38 others(244): Show c.3884_*3885insATTATATATATATTATATATATATAATATATATA ATATATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATATTATATATATATTATATATATATAATATATATTATATATAT ATAATATATATATAATATATATATTATATATATATATAATATATATATAT AATATATATATATATAATATATATATATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar

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