Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(701): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	322	0.0031	708	c.909 others(723): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(701): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC CCCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCAC CCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTAT CCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCC TATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCA TCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCC CCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCATCA TCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCAC CCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCAC CCACCATCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	258	0.0039	708	c.113 others(727): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCCCCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCCCCCCACCAT CCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCACCCCCCCAC CATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCC CATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACC CCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATC CACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCA TCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATC CTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	377320	C C	CCCCACCC others(701): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGC CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0003 a0011c0018t0003	a0011c0018t0003g0356 a0011c0018t0003g0356	1	370	0.0027	708	c.-13 others(719): Show c.-1351_-1350insCACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTG GGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACGGGG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1295		chr19	TogoVar
TH_chr11_2158929_2176815	2161833	G G	GGACCCCT others(701): Show GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACAC CCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCC CACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	388	0.0026	708	c.23 others(719): Show c.2399_*2400insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGG TGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGG GGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGG GGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2095		chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(701): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG CGGGAGGCA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19060.hp2 NA19010.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0261 a0001c0001t0041g0262 a0001c0001t0041g0261 a0001c0001t0041g0262	2	314	0.0064	708	c.189 others(725): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747310	C C	CTGGGGTA others(701): Show CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAAA AGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGA GGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT GGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGCGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	314	0.0032	708	c.189 others(725): Show c.189-1016_189-1015insTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747993	T T	TGGGAGGC others(701): Show TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0186 a0002c0002t0007g0186	1	314	0.0032	708	c.189 others(723): Show c.189-326_189-325insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(701): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCC GGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG ACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGG TCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAG GCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCA GGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGT TAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAG GCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	466	0.0022	708	c.49 others(719): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTC CCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCC TGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TPO_chr2_1408463_1548673	1525660	C C	CTCCCCAC others(701): Show CTCCCCACTGTGTGCAACCTCCCAAAATCTCCCCTATTGTGTGCAACCTC CTCAAATCCCCTCACTGTGTGCAACCTCCCCAAATACCCCCCACTGTGTG CAACTTCCTCAAGTCCCCCACTGTGTGCAACTCCCACAAATCCCCCCACT GTGCGCAACCTCCTCTAATCCCCTCACTGTGTGCAACCTACACAAATGCC CCCCACAGTGCACAACCTCCTCAAATCCCCCACCACTGTGAGCAACCTCC TCAAATCCCCCCACTGCCTGCAACCTCCTCAAATCCCCCCACTGTGTGCA ACCTCAAGTCCCCCACTGTGTGCAACCCCCACAAAACTCCCACTGTGCGC AACCTCCTCTAATCCCCTCACTGTGTGCAACCTCCACAAATGCCCCCCAC AGTGCGCAACCTCCTCAAATCCCCCACCACTGTGAGCAACCTGCCCAAAT CCCCCCACTGTGAGTAACCTCCTGCAATTGCCCCGCACTGTGCAACCTCC TCAAATCCCCCCCACAGTGCAAAACCTCCTCAAAACCCCCGCCACTCTGA GCAACCTCCTCAAATACCCCACTGTCAGCAACCTCCTCAAATCCCCCCAA CTGTGTGCGACCTCCCCAAATCCCCCCCACAGTGTGCAATCTCCACAAAT CCCCCCCACTCTGTACAACCTCCCCAAACCCCCCCAACTGTGTACAACCT CCTCACATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01167.hp2 others(14): Show HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 NA18962.hp2 NA19043.hp1 NA19043.hp2 NA19088.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0002c0015 others(4): Show a0001c0001 a0002c0002 a0002c0015 a0007c0026 a0008c0011 a0008c0016 a0008c0028	a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 others(5): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 a0002c0015t0003 a0007c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003	a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 others(14): Show a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0006g0027 a0002c0015t0003g0111 a0007c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003	17	130	0.1308	708	c.261 others(727): Show c.2618+8678_2618+8679insTCCCCACTGTGTGCAACCTCCCAAAA TCTCCCCTATTGTGTGCAACCTCCTCAAATCCCCTCACTGTGTGCAACCT CCCCAAATACCCCCCACTGTGTGCAACTTCCTCAAGTCCCCCACTGTGTG CAACTCCCACAAATCCCCCCACTGTGCGCAACCTCCTCTAATCCCCTCAC TGTGTGCAACCTACACAAATGCCCCCCACAGTGCACAACCTCCTCAAATC CCCCACCACTGTGAGCAACCTCCTCAAATCCCCCCACTGCCTGCAACCTC CTCAAATCCCCCCACTGTGTGCAACCTCAAGTCCCCCACTGTGTGCAACC CCCACAAAACTCCCACTGTGCGCAACCTCCTCTAATCCCCTCACTGTGTG CAACCTCCACAAATGCCCCCCACAGTGCGCAACCTCCTCAAATCCCCCAC CACTGTGAGCAACCTGCCCAAATCCCCCCACTGTGAGTAACCTCCTGCAA TTGCCCCGCACTGTGCAACCTCCTCAAATCCCCCCCACAGTGCAAAACCT CCTCAAAACCCCCGCCACTCTGAGCAACCTCCTCAAATACCCCACTGTCA GCAACCTCCTCAAATCCCCCCAACTGTGTGCGACCTCCCCAAATCCCCCC CACAGTGTGCAATCTCCACAAATCCCCCCCACTCTGTACAACCTCCCCAA ACCCCCCCAACTGTGTACAACCTCCTCACATA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(701): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATTATATATATATAAAAATTATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	272	0.0037	708	c.28 others(719): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATTATATATATATAAAAA TTATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273369	A A	AAAATTAT others(701): Show AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATTATATA TATAAAAATTATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATTATATATATATAAAAATTATATATATAATATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATAAAAA TTATATATATATTATATACATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATATAAATTATATATATATTATA TATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	272	0.0037	708	c.29 others(719): Show c.2934_*2935insAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATATTATATATATAAAAAT TATATATATTATATATATAAAAATTATATATATTATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATTATATATATATAAAAAT TATATATATAATATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATACATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATATAAAT TATATATATATTATATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2256		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(701): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATATACTATATCATCATATGATATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	174	0.0058	708	c.41- others(725): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATATAC TATATCATCATATGATATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(701): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATATACTATATCATCATATGATATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	174	0.0058	708	c.41- others(725): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATACTATATCATCATATGATATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(701): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	338	0.0030	708	c.246 others(727): Show c.246-36120_246-36119insTCCTTCCTTCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX_chrX_7838171_7849143	7844369	G G	GGGGGAGG others(701): Show GGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	341	0.0029	708	c.35 others(717): Show c.353_*354insGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGT	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		227		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(701): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	408	0.0025	708	c.53+ others(723): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(701): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACATATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0252 a0005c0008t0001g0252	1	408	0.0025	708	c.53+ others(723): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACATATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VSIG1_chrX_108040065_108084184	108041553	C C	CGTGTGTG others(701): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCATGTGTACATGCA TAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGTTCCATGTGAGCCTGG GAAAGGGATTACATGTGTGAGTGAATGAATGGGACTTTTTTTCCTCTGTA TCCTTGTTTGTCCTTTGAAAACCATTTACTATCAAAATGTATTACTTTTG TAATTTTTAAGTTAAAAATGAGGGATAAATCAGATATCACATATTTCTGA AAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCATATTTGTTACATTACA ATCACACCGTGCCATTGTGTGGTGTGATAGGAACAGCTTCTAATGCGTGC TATGGTGACCTTGGGAAAAGCACAGCACTTTTGAGCCTCAGTTTTCTTAT ATAGAAAATGTAGGTATACCTGACTTATTTGTTGTATTGGAAAGCTACAT GTTCATTGAACCATTGTCAATAATATTGAAAAACTGGAAACCATCTAAGA ATTTACCAATAAGAGAATGATTAAATAAATTGAGGTACATTCATATCATG AAATACCATGCAGCCTTAACATGGACAAGGTTGATCTATAGATGCAGTTG GACCCAGTGACAGAAAGAGAGAATAAAAATACCTTTTTTAAGGGAGAAAA GCAAATTATAGAACAAAATGTACAGTATTATCATCTTTATGTTTTAAAAA ACCTCGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19090.hp1 NA19007.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0059 a0001c0001t0002g0060	2	281	0.0071	708	c.-35 others(719): Show c.-3578_-3577insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGT GCATGTGTACATGCATAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGT TCCATGTGAGCCTGGGAAAGGGATTACATGTGTGAGTGAATGAATGGGAC TTTTTTTCCTCTGTATCCTTGTTTGTCCTTTGAAAACCATTTACTATCAA AATGTATTACTTTTGTAATTTTTAAGTTAAAAATGAGGGATAAATCAGAT ATCACATATTTCTGAAAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCAT ATTTGTTACATTACAATCACACCGTGCCATTGTGTGGTGTGATAGGAACA GCTTCTAATGCGTGCTATGGTGACCTTGGGAAAAGCACAGCACTTTTGAG CCTCAGTTTTCTTATATAGAAAATGTAGGTATACCTGACTTATTTGTTGT ATTGGAAAGCTACATGTTCATTGAACCATTGTCAATAATATTGAAAAACT GGAAACCATCTAAGAATTTACCAATAAGAGAATGATTAAATAAATTGAGG TACATTCATATCATGAAATACCATGCAGCCTTAACATGGACAAGGTTGAT CTATAGATGCAGTTGGACCCAGTGACAGAAAGAGAGAATAAAAATACCTT TTTTAAGGGAGAAAAGCAAATTATAGAACAAAATGTACAGTATTATCATC TTTATGTTTTAAAAAACCTCGTGT	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding		3511		chrX	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(701): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATA TATTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTA TTACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTAT TTTTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCT ATACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAA AGATACAAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0377 a0002c0002t0018g0377	1	432	0.0023	708	c.209 others(725): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAAT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGCATATCTGTTGA TCCAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTA CTAATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGT CTTCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGT CTTATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGG AGATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(701): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCGTTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAAA ACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAATC GTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAAA AAAAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATA TATTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTA TTACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTAT TTTTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCT ATACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAA AGATACAAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03017.hp1 HG01361.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0187 a0002c0002t0002g0175 a0002c0002t0002g0187	2	432	0.0046	708	c.209 others(725): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCGTTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGCATAGTGGTGGGTACCTGTAATC CCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTTG AGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACAA AAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAGCATATCTGTTGA TCCAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTA CTAATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGT CTTCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGT CTTATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGG AGATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(701): Show CCCTCCCCCCTTCCTCCATCCCCTTCCCCCCTCCCCTTCTTCCTCTCCTC CTCCCCTCCCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCC CTTCTTCCTTCCCTTCCCCTCCCCTCCCCCTTCTCCTCCTCCCCTTCCTC CTCTCCTCCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCC CTCCCCTCCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCT CCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTC CCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCC TCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCC TCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCC TCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCCCC CTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCT CCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCG TCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCT TCCCCCTCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	322	0.0031	708	c.4-1 others(721): Show c.4-1376_4-1375insCCCTTCCTCCATCCCCTTCCCCCCTCCCCTTC TTCCTCTCCTCCTCCCCTCCCCCCCCCTCCCCTTCCCTCCTCCCTCCCCC CTCCCCTCCCCCTTCTTCCTTCCCTTCCCCTCCCCTCCCCCTTCTCCTCC TCCCCTTCCTCCTCTCCTCCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCC TCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCT CCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTC CCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCT CCTCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCC CTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCT CCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTC CCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCC CTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTC CCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAT others(702): Show ACACCCATACACACACCAGACCCCCACACCCCCACACACAGCCACACCCC CACACCCATACACACACACCCACCCACCCACACCCACACCCACCACACAC ACCCACACCCCCCCCACACACCCACATACCCCCACCACACACCCACACAC CCCCTCACACACACACCCACACCCACCACACACCCCCACCACACACCCAC ATACACCCACACCCCCACCACACACCCCCACATACTAATACACACACACC CACACCCTCCCACCCCCCCACCACACACCAATACACACCCACACACCCCC TCACACACACACCCACACACCCACACACCCACCACACACCCATACATACA CACCCCCACACCCCCTCACACCCTCCCCCCACTCACCCATACACAACCCC CACCACACCCCCACACCCATACACACACACACCCACCACACCCATACACA CACCCCTGCACCCCCTCACACACCCTCCCCCCCACACACCCATACACACA CCCCCACACCCCCACCACACCCATACACACACACCCGTACCCCCTCACAC CCTCCCCCCACACACCCATCCCCACCACACACCCATACACACACACCCAC ACACACACCACACCCATACACACACATACCCCCACACCCCCACACACACC CTCCCTCACACACACCCCCACCACACACCCATACACACCCCAACCCCCCA CACACACACC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0006 a0001c0017t0006	a0001c0017t0006g0138 a0001c0017t0006g0138	1	248	0.0040	709	c.387 others(728): Show c.3871-3767_3871-3766insGGTGTGTGTGTGGGGGGTTGGGGTGT GTATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTG TGGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTAT GGGTGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGG GTGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTG TGGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGT GGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGT GAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTGTG TGGTGGGTGTGTGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGT GTATTGGTGTGTGGTGGGGGGGTGGGAGGGTGTGGGTGTGTGTGTATTAG TATGTGGGGGTGTGTGGTGGGGGTGTGGGTGTATGTGGGTGTGTGGTGGG GGTGTGTGGTGGGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGTGTGG TGGGGGTATGTGGGTGTGTGGGGGGGGTGTGGGTGTGTGTGGTGGGTGTG GGTGTGGGTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGCTGTGTG TGGGGGTGTGGGGGTCTGGTGTGTGTATGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ACTRT2_chr1_3016467_3027903	3016686	A A	AGGGACGG others(702): Show AGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGG AGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAAGG AGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGG AGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGA GAGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAA GGGAAGGAGGGAGGGAGGAGAGAGGAAGGGAGGGAGGGAGGGAGGAAGGG AAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAA ATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGG AGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGG GAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAG GAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGA GGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGA GGAGGAGAGGGAGGGAGGTGGGAGGGAGGGAGGATGGTGGGAGGGAGGGA GGGGGGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03540.hp2 HG02622.hp2 HG03540.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	2	366	0.0055	709	c.-50 others(720): Show c.-5001_-5000insGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGA GGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGG AGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGA GGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGA AGGAGGGAGGGAGGAGAGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGA GGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGAGGAAGGGAGGGA GGGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGA GGGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAG AAGGAGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAA AGGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGA GAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGG AGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAG GGAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGTGGGAGGGAGGGAGGAT GGTGGGAGGGAGGGAGGGGGGAAGC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4780		chr1	TogoVar
BRSK2_chr11_1384934_1467689	1431720	C C	CGGTCTGG others(702): Show CGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0242 a0001c0001t0021g0242	1	360	0.0028	709	c.92- others(724): Show c.92-4294_92-4293insCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGGGTCTGGTCAGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C11orf24_chr11_68256338_68276973	68264684	C C	CTATCCAT others(702): Show CTATCCATCCATCCACCCACCCACCCCATCCATCCACCCACTCATCCATC CATCCATCCATCCATCCTTCTATCCATCTACTCATCTGTCCATCCATCCA TCCATCCACCCACCCATCCACCCACCCACTCTTCCATCCATCCATCCACC CACTATTCTATACATCTACTCATCTGTCCATCCATAGGTTCACTCATCCA TCCATCCATCCATCTACCCACCCACCCATCCATCTATCCACTATTCTATT CATCTATTCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATTCATCCATCCATCCACTCATCCACTTTTCCATCCATCTACT CATCTGTCCATCCACCCACCCATGCATCCATCCATCCACCCACCTGTCCA TCCACCCATCCACCCACCCACCCGTCCATCCACCCACCCATCCGTCCATC CACCCATCCATCCACCCACCCACCCACCCATCCATCCATCCACCCACCCA CCCACCCATCCACCCACCCACTCACCCATCCATCCATCCATCCACCCATC CATCCATCCATCCATCCACCCATCCATCCATCCACCCACCCATCTATCCA TCCATCCATCCACCCACCCACCCACCCATACACTCATCCATCCATCCATC CATCCATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCACCCA CCCACACACT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0111 a0001c0002t0006g0111	1	400	0.0025	709	c.-99 others(724): Show c.-99-819_-99-818insAGTGTGTGGGTGGGTGGATGGATGGATGGA TGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGTG TATGGGTGGGTGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGATGGATG GATGGGTGAGTGGGTGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGA TGGGTGGGTGGGTGGGTGGATGGATGGGTGGATGGACGGATGGGTGGGTG GATGGACGGGTGGGTGGGTGGATGGGTGGATGGACAGGTGGGTGGATGGA TGGATGCATGGGTGGGTGGATGGACAGATGAGTAGATGGATGGAAAAGTG GATGAGTGGATGGATGGATGAATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGACAGATGAATAGATGAATAGAATAGTGGATAGATG GATGGGTGGGTGGGTAGATGGATGGATGGATGGATGAGTGAACCTATGGA TGGACAGATGAGTAGATGTATAGAATAGTGGGTGGATGGATGGATGGAAG AGTGGGTGGGTGGATGGGTGGGTGGATGGATGGATGGATGGACAGATGAG TAGATGGATAGAAGGATGGATGGATGGATGGATGGATGAGTGGGTGGATG GATGGGGTGGGTGGGTGGATGGATGGATA	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
C11orf24_chr11_68256338_68276973	68264684	C C	CTATCCAT others(702): Show CTATCCATCCATCCACCCACCCACCCCATCCATCCACCCACTCATCCATC CATCCATCCATCCATCCTTCTATCCATCTACTCATCTGTCCATCCATCCA TCCATCCACCCACCCATCCACCCACCCACTCTTCCATCCATCCATCCACC CACTATTCTATACATCTACTCATCTGTCCATCCATAGGTTCACTCATCCA TCCATCCATCCATCTACCCACCCACCCATCCATCTATCCACTATTCTATT CATCTATTCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCACTCATCCACTTTTCCATCCATCTACTCATC TGTCCATCCACCCACCCATGCATCCATCCATCCACCCACCTGTCCATCCA CCCATCCACCCACCCACCCGTCCATCCACCCACCCATCCGTCCATCCACC CATCCATCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCA CCCATCCACCCACCCACTCACCCATCCATCCATCCATCCACCCATCCATC CATCCATCCATCCACCCATCCATCCATCCACCCACCCATCTATCCATCCA TCCATCCACCCACCCACCCACCCATACACTCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCACCCA CCCACACACT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04184.hp2 HG03942.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0091 a0001c0002t0003g0048 a0001c0002t0001g0091 a0001c0002t0003g0048	2	400	0.0050	709	c.-99 others(724): Show c.-99-819_-99-818insAGTGTGTGGGTGGGTGGATGGATGGATGGA TGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG AGTGTATGGGTGGGTGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGATG GATGGATGGGTGAGTGGGTGGGTGGATGGGTGGGTGGGTGGGTGGATGGA TGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGGATGGACGGATGGGTG GGTGGATGGACGGGTGGGTGGGTGGATGGGTGGATGGACAGGTGGGTGGA TGGATGGATGCATGGGTGGGTGGATGGACAGATGAGTAGATGGATGGAAA AGTGGATGAGTGGATGGATGGATGAATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGACAGATGAATAGATGAATAGAATAGTGGATAGATG GATGGGTGGGTGGGTAGATGGATGGATGGATGGATGAGTGAACCTATGGA TGGACAGATGAGTAGATGTATAGAATAGTGGGTGGATGGATGGATGGAAG AGTGGGTGGGTGGATGGGTGGGTGGATGGATGGATGGATGGACAGATGAG TAGATGGATAGAAGGATGGATGGATGGATGGATGGATGAGTGGGTGGATG GATGGGGTGGGTGGGTGGATGGATGGATA	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
C7orf50_chr7_992006_1143247	1115803	G G	GGATGACA others(702): Show GGATGACATCACTACAGCTCTAGGGATGGCTTCCATCACCGACGCCCACG CAGGATGATGACATCACTACAGCTCTAGGACCGGCTTCCATCACCAACGC CCACGCAGGATGACATCACTAAAGCTCTAGGGACGGCTTCCATCACCAAC GCCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCAGC ACCGACGCCCACGCAGGATGATGACATCACTACAGCTCTACGGACCCGCT TCCATCACCGACGCCCACGCAGGATGATGACATCACTACAGCTCTAGGGA CCGGCTTCCATCACCAATGCCCATGCAGGATGACATAACTACAGCTCTAC GGACCGGCTTCCATCACCAACGCCCACGCAGGATGACATCACTACAGCTC TAGGGACTGGCTTCCATCACCAACGCCCACGCAGGATGACTTCACTACAG CTCTACGGACCGGCTTCCATCACCAAGGCCCACGCAGGATGACATCACTA CAGCTCTACGGACAGGCTTCCATCACCAACGCCCACGCAGGATGATGACA TCACTACAGCTCTAGGGACAGCTTCCATCACCAACGCCCACGCAGGATGA TGACATGACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCA GGATGATGACATCACTACAGCTCTACGGACCGGCTTCCATCACCGACGCC CACGCAGGAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	326	0.0031	709	c.129 others(728): Show c.129+11453_129+11454insATCCTGCGTGGGCGTCGGTGATGGAA GCCGGTCCGTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTG ATGGAAGCCGGTCCGTAGAGCTGCAGTCATGTCATCATCCTGCGTGGGCG TTGGTGATGGAAGCTGTCCCTAGAGCTGTAGTGATGTCATCATCCTGCGT GGGCGTTGGTGATGGAAGCCTGTCCGTAGAGCTGTAGTGATGTCATCCTG CGTGGGCCTTGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGAAGTCATC CTGCGTGGGCGTTGGTGATGGAAGCCAGTCCCTAGAGCTGTAGTGATGTC ATCCTGCGTGGGCGTTGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTTAT GTCATCCTGCATGGGCATTGGTGATGGAAGCCGGTCCCTAGAGCTGTAGT GATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCGGGTCCGTAGAGC TGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCG TAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTTGGTGATGGAAGCC GTCCCTAGAGCTTTAGTGATGTCATCCTGCGTGGGCGTTGGTGATGGAAG CCGGTCCTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGAT GGAAGCCATCCCTAGAGCTGTAGTGATGTCATC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(702): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATATTTATATATATATATAATTATATATATAT ATAAAATTATATATATAATTATATATATATTATATATAATTATATATATA ATTATATATATATAATTATATATATTTATATATATATATAATTATATATA TATATAAAATTATATATATAATTATATATATATTATATATAATTATATAT ATATATTATATATAATTTTATATATATAATTATATATATAATTTTATATA TATAATTTTATATATATAATTTTATATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTTTATATATATATAATTATATATATAATTATATATA TATATAATTATATATATAATTTTATATATATATAATTATATATATAATTA TATATATAATTTTATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTTTATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATAATTATATATATAATTTTATA TATATATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0123 a0001c0007t0001g0123	1	330	0.0030	709	c.907 others(724): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATAAAATTATATATATAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATATAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATAAAATTATATATATAATTATATATATAAAATTA TATATATAAAATTATATATATAAAATTATATATATAAAATTATATATATA ATTATATATATAAAATTATATATAATATATATATATAATTATATATAATA TATATATAATTATATATATAATTTTATATATATATATAATTATATATATA TATAAATATATATAATTATATATATATAATTATATATATAATTATATATA ATATATATATAATTATATATATAATTTTATATATATATATAATTATATAT ATATATAAATATATATATAATTATATATATATAAAATTATATATATAATT ATATATATATAAAATTATATATATAATTATATATATATAAAATTATATAT ATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(702): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAG GAGGGGGAGCGGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGGA GGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	168	0.0060	709	c.-26 others(718): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCC TCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCC AGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGC TCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTC CTCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCC TCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCC CTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(702): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAG GAGGGGGAGCGGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGGA GGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0004	1	168	0.0060	709	c.-26 others(718): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCC TCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCC AGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGC TCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTC CTCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCC CTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(702): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGA GGAGGGGGAGCGGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGG GGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGGA GGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0007 a0001c0003t0010g0007	1	168	0.0060	709	c.-26 others(718): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCC TCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCC AGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGC TCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCC TCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCC CTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(702): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATATATTTATA AATATATAAATATATATAAAAATATATATAAATATATAAAAAATATAAAT ATATATAAATATATAAATATATGTAAATATATATAAATATATATATAAAT ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATATATAACTATATAAAT AAATATATATAAATATATAAATATATAAAAATATATATAAATATATATGT AAATATATAAATATATATAAATATATATAAATATATATAAGTATATAAAT ATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGT ATATAAATATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATAAGTATATAAATATATATATAAATATCTATAAGTATATATAAATAT ATATAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTAT ATATAAATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	264	0.0038	709	c.181 others(728): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATAGATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATTTACATATATTTATATATTTATATATATTTATATTTTTTATA TATTTATATATATTTTTATATATATTTATATATTTATAAATATATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATTTATAAATATATATATATTTATATATTTATAAATATATT TATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATA TATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(702): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0163 a0001c0006t0001g0163	1	344	0.0029	709	c.85- others(726): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A2_chr21_46093112_46134801	46134455	C C	CAGGTTTA others(702): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCA GGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTT TAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGGTGAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAG GGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC AGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAG GGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGG TGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTG AGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAG GGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAGGG TCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTG AGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAG GGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG02976.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0226 a0002c0003t0008g0227 a0002c0003t0008g0226 a0002c0003t0008g0227	2	372	0.0054	709	c.49 others(720): Show c.4964_*4965insAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGG TCAGGGTGAGGGTCAGGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTC AGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAG GGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGT TTAGGGTGAGGGTCAGGTTTAGGGGTGAGGGTCAGGGTCAGGGTCAGGGT CAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCA GGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGT CAGGTTTAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGGTCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGG GTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGT GAGGGTGAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGG GTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTT TAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4655		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134455	C C	CAGGTTTA others(702): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCA GGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTT TAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGGTGAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAG GGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC AGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAG GGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGG TGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTG AGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAG GGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAGGG TCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTG AGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAG GGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG02976.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0222 a0002c0003t0001g0223	2	364	0.0055	709	c.19 others(720): Show c.1903_*1904insAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGG TCAGGGTGAGGGTCAGGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTC AGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAG GGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGT TTAGGGTGAGGGTCAGGTTTAGGGGTGAGGGTCAGGGTCAGGGTCAGGGT CAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCA GGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGT CAGGTTTAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGGTCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGG GTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGT GAGGGTGAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGG GTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTT TAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1608		chr21	TogoVar
EHMT1_chr9_137614005_137841127	137716460	T T	TGGGGGAG others(702): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	170	0.0059	709	c.86- others(722): Show c.86-138_86-137insGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGTCATGGTGGGGGAGG AAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGGGAGGAAGTTGTGTTGGTGTCATGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EXOC2_chr6_480154_698139	602242	G G	GTGCGAAT others(702): Show GTGCGAATCCACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACATTCTCACACCAAGAACACC CCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGA ATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAACCCCGTG TGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCA CACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCT CACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCACACCAAGA ACACCCCGTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp1 HG00323.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0164 a0001c0001t0002g0165	2	272	0.0074	709	c.743 others(726): Show c.743-3018_743-3017insGACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCG CACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGT GTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTTTCTTGGTGT GAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGT GTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGGATTCGCACAC GGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCT TGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGA ATGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGAT TCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGG GGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTG GTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAAT GTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGAT TCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGG GGTGTTCTTGGTGTGAGAATGTGGATTCGCA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FTCD_chr21_46131779_46160579	46134455	C C	CAGGTTTA others(702): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCA GGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTT TAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGGTGAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAG GGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC AGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAG GGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGG TGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTG AGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAG GGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAGGG TCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTG AGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAG GGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	230	0.0044	709	c.25 others(720): Show c.2531_*2532insAAACCTGACCCTCACCCTGACCCTAAACCTGACC CTCACCCTGACCCTAAACCTGACCCTCACCCTGACCCTGACCCTGACCCT AAACCTGACCCTGACCCTAAACCTGACCCTGACCCTAAACCTGACCCTCA CCCTAAACCTGACCCTCACCCTCACCCTGACCCTCACCCTCACCCTCACC CTCACCCTGACCCTAAACCTGACCCTCACCCTCACCCTCACCCTCACCCT AAACCTGACCCTCACCCTCACCCTCACCCTGACCCTGACCCTGACCCTCA CCCTAAACCTGACCCTCACCCTGACCCTGACCCTAAACCTGACCCTGACC CTGACCCTAAACCTGACCCTGACCCTGACCCTGACCCTAAACCTGACCCT CACCCTCACCCTCACCCTCACCCTCACCCTGACCCTAAACCTGACCCTCA CCCTGACCCTAAACCTGACCCTCACCCTGACCCTAAACCTGACCCTGACC CTGACCCTGACCCTCACCCCTAAACCTGACCCTCACCCTAAACCTGACCC TCACCCTCACCCTCACCCTGACCCTAAACCTGACCCTCACCCTCACCCTG ACCCTAAACCTGACCCTCACCCTCACCCTGACCCTAAACCTGACCCTCAC CCTGACCCTAAACCTGACCCTCAACCTGACCCTCACCCTGACCCTGACCC TGACCCTGACCCTGACCCTAAACCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2323		chr21	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(702): Show TATATATAGTATATATTTTATATATATTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATATTATATAAAATATATAATATATATTATATATA TATTATATAAAATATATAATATATATTTTATATATATCATATATTTTATA TATAATATATATTTTATATATATCATATATTTTATATATAATATATATTA TATATACATTATATAATATATATTATATTATATACATTATATATTATATA ATATATATTATATATTATACGTAATATATAATGTATATTATATATAATAT ATTATGTATATAATGTATATTATATATAATATACATTATATATAATGTAT ATTATATGTAATATACACATTATATATAATGTATATTATATGTAATATAC ACATTATATATAATGTATATTATATGTAATATACACATTATATATAATGT ATATTATATGTAATATACACATTATATATAATGTATATTATATGTAATAT ACACATTATATATAATGTATATTATATGTAATATATACATTATATATAAT GTATATTATATGTAATATATACATTATATATAATGTATATTATATGTAAT ATATACATTATATAATGTATATTATATGTAATATATACATTATATAATGT ATATTATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0304 a0001c0002t0004g0304	1	350	0.0029	709	c.94- others(722): Show c.94-790_94-789insGTATATATTTTATATATATTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATATTATATAAAATATATAATATAT ATTATATATATATTATATAAAATATATAATATATATTTTATATATATCAT ATATTTTATATATAATATATATTTTATATATATCATATATTTTATATATA ATATATATTATATATACATTATATAATATATATTATATTATATACATTAT ATATTATATAATATATATTATATATTATACGTAATATATAATGTATATTA TATATAATATATTATGTATATAATGTATATTATATATAATATACATTATA TATAATGTATATTATATGTAATATACACATTATATATAATGTATATTATA TGTAATATACACATTATATATAATGTATATTATATGTAATATACACATTA TATATAATGTATATTATATGTAATATACACATTATATATAATGTATATTA TATGTAATATACACATTATATATAATGTATATTATATGTAATATATACAT TATATATAATGTATATTATATGTAATATATACATTATATATAATGTATAT TATATGTAATATATACATTATATAATGTATATTATATGTAATATATACAT TATATAATGTATATTATATAATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
MED16_chr19_862963_898187	871846	G G	GGGGAGCG others(702): Show GGGGAGCGGGGAGAGGGGAGAGCGGGGGAGCGGGGAGAGGGGAGAGGGGA GAGGGAGAGGGGAGAGCGGGGAGCGGGGAGAGGGGAGAGGGGGAGAGCGG GGAGCGGGGAGGGGAGAGCGGGGAGCGGGGAGAGGGGAGAGCGGGGAGAG GGGAGAGAGGGGAGAGCGGGGAGGAGGGGAGAGAGGGGAGCAGGGAGAGG GGAGAGAGGGGAGCGGGGAGAGGGGAGAGAGGGGAGAGAGGGGAGAGAGG GGAGAGAGGGGAGAGAGGGGAGAGGGGAGAGGGGAGAGAGGGGAGAGAGG GGAGAGAGGGGAGCGGGGAGAGAGGGGAGAGGGGAGAGGGGAGAGAGGGG AGAGAGGGGAGCGGGGAGAGAGGGGAGAGGGAGAGAGGGGAGAGAGGGGA GAGCGGGGAGAGAGGGGAGAGGGGAGAGAGGGGAGCGGGGAGAGGGGAGA GCGGGGAGAGGGGAGAGCGGGGAGAGGGGAGAGCGGGGAGAGGGGAGAGG GGAGAGCGGGGAGAGCGGGGAGAGGGGAGAGCGGGGAGAGCGGGGAGAGG GGAGAGCGGGGAGAGGGGAGAGGGGAGAGCGGGGAGAAGGGGAGAGCGGG GAGAGGGGAGAGGGAGAGCGGGGAGAGGGGAGAGCGGGGAGAGGGGAGCG GGGAGCGGGACGGAGAGGGGAGAGCGGGGAGCGGGGAGAGGGGAGAGGGG AGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	56	0.0179	709	c.209 others(724): Show c.2098+79_2098+80insTCTCCCCTCTCCCCTCTCCCCTCTCCCCGC TCCCCGCTCTCCCCTCTCCGTCCCGCTCCCCGCTCCCCTCTCCCCGCTCT CCCCTCTCCCCGCTCTCCCTCTCCCCTCTCCCCGCTCTCCCCTTCTCCCC GCTCTCCCCTCTCCCCTCTCCCCGCTCTCCCCTCTCCCCGCTCTCCCCGC TCTCCCCTCTCCCCGCTCTCCCCGCTCTCCCCTCTCCCCTCTCCCCGCTC TCCCCTCTCCCCGCTCTCCCCTCTCCCCGCTCTCCCCTCTCCCCGCTCCC CTCTCTCCCCTCTCCCCTCTCTCCCCGCTCTCCCCTCTCTCCCCTCTCTC CCTCTCCCCTCTCTCCCCGCTCCCCTCTCTCCCCTCTCTCCCCTCTCCCC TCTCCCCTCTCTCCCCGCTCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCC TCTCCCCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCC TCTCTCCCCTCTCCCCGCTCCCCTCTCTCCCCTCTCCCTGCTCCCCTCTC TCCCCTCCTCCCCGCTCTCCCCTCTCTCCCCTCTCCCCGCTCTCCCCTCT CCCCGCTCCCCGCTCTCCCCTCCCCGCTCCCCGCTCTCCCCCTCTCCCCT CTCCCCGCTCCCCGCTCTCCCCTCTCCCTCTCCCCTCTCCCCTCTCCCCG CTCCCCCGCTCTCCCCTCTCCCCGCTCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MFRP_chr11_119333942_119351705	119351446	C C	CACGTAGT others(702): Show CACGTAGTGGGGCACTGTCTCCCACTCCCTGCACATGACCCGAAACGAAG ACGAGAAGAAAAGAAAAGACAAGCTCCTCTCTCCTCCTCTGCCTCGCAGC CCTGCACGCAGACCCGCAACGCAACCGCACGAAGAGACGCATAGCCAGCA ACAGAAAAGACAACGCAGAAGGCCCACGACCCGAACGACGCGCGCACGAC CAGAAGCGAGCAGACTCCTCGCACGACCACTCCGCGCGCCTCCCCTCCCC GCCTCTCCTCCTGCCCCTCCCCTCCCTCCTCCTCTCCTCCCCTCCCCTCC CCTCCTCTCTCCTCCTCCCCTCCCCTCCCTCTCTCCTCCCTCCCCTCCCC TCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCC ACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCC CCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCT CTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCT CTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCT CTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCT CCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0049 a0001c0003t0001g0049	1	318	0.0031	709	c.-49 others(720): Show c.-4934_-4933insAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGA GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGG GAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCG GAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAG GAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAG GAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGAGGAGAGAGGG AGGGGAGGGGAGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGA GGGAGGGGAGGGGCAGGAGGAGAGGCGGGGAGGGGAGGCGCGCGGAGTGG TCGTGCGAGGAGTCTGCTCGCTTCTGGTCGTGCGCGCGTCGTTCGGGTCG TGGGCCTTCTGCGTTGTCTTTTCTGTTGCTGGCTATGCGTCTCTTCGTGC GGTTGCGTTGCGGGTCTGCGTGCAGGGCTGCGAGGCAGAGGAGGAGAGAG GAGCTTGTCTTTTCTTTTCTTCTCGTCTTCGTTTCGGGTCATGTGCAGGG AGTGGGAGACAGTGCCCCACTACGT	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4742		chr11	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(702): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCC TGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAG AGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTC CCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC AGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAG GGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCT GCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	418	0.0024	709	c.23 others(720): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGG CGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGT CTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCC TGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCA GGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTT TTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(702): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCA CAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCT CTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATC CCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAG GTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATA GAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCC TGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAG AGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTC CCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC AGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAG GGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCT GCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01943.hp1 HG02055.hp2 others(22): Show HG00544.hp2 HG01943.hp1 HG02055.hp2 HG02071.hp1 HG02155.hp2 HG02165.hp2 HG02523.hp1 HG02602.hp2 HG02965.hp2 HG03130.hp1 HG03486.hp1 HG03579.hp1 NA18941.hp1 NA18957.hp2 NA18962.hp1 NA18973.hp1 NA18987.hp1 NA19005.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0027 a0001c0001t0055 a0001c0001t0066	a0001c0001t0001g0001 a0001c0001t0001g0145 a0001c0001t0002g0004 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0145 a0001c0001t0002g0004 a0001c0001t0002g0201 a0001c0001t0002g0211 a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0104 a0001c0001t0018g0224 a0001c0001t0027g0029 a0001c0001t0055g0235 a0001c0001t0066g0193	25	418	0.0598	709	c.23 others(720): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTT TTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(702): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCA CAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCT CTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATC CCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAG GTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATA GAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCC TGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAG AGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTC CCGGGTTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC AGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAG GGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCT GCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0081 a0001c0001t0065g0081	1	418	0.0024	709	c.23 others(720): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAAAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTT TTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(702): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAC AAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGG TTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAG AGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCC TGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAG AGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTC CCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC AGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAG GGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCT GCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0059 a0001c0008t0059	a0001c0008t0059g0170 a0001c0008t0059g0170	1	418	0.0024	709	c.23 others(720): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(702): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAC AAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGG TTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAG AGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCC TGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAG AGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTC CCGGGTTCGAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC AGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAG GGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCT GCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA19077.hp1 NA18945.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0042 a0001c0001t0022g0042	2	418	0.0048	709	c.23 others(720): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTCGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(702): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAC AAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGG TTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAG AGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCT GCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGA GCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTC CCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC AGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAG GGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCT GCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02965.hp1 NA18977.hp2 others(1): Show HG02698.hp1 HG02965.hp1 NA18977.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 a0001c0001t0039	a0001c0001t0002g0222 a0001c0001t0007g0151 a0001c0001t0025g0167 others(1): Show a0001c0001t0002g0222 a0001c0001t0007g0151 a0001c0001t0025g0167 a0001c0001t0039g0055	4	418	0.0096	709	c.23 others(720): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(702): Show AAGGGGGGAAGGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAG GAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAG GGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGG GGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGG GGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGG GAGGGGGGAGGGGAGGGTAGGGGGGAGGGGGGGAGGGGAGGGGAGGGGAG GGGGGAGGGAGGGGGGGGGAGGGGAGTGGGGGAGAGGGGAGGGGAGGGGA GGGGAGGGTGAGGGGAGAGGGAGGGAGGAGGGGGAGGGGGAGGGAGGAGG AGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGGGAGGGAGGGGAGGGGAGG GGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAA GGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0043 a0010c0011t0002g0043	1	272	0.0037	709	c.250 others(724): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCTCCTCCCTCCCCCTCCCC CTCCTCCCTCCCTCTCCCCTCACCCTCCCCTCCCCTCCCCTCCCCTCTCC CCCACTCCCCTCCCCCCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCCTCCCCCCTACCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTC CCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTC CCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCC TCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTC CTTCCCCCTCCTTCCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NDUFAF1_chr15_41382353_41407496	41383408	T T	TGGGGGGG others(702): Show TGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCGCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCACCCCGTCGGGGAGGGAGATGGGGGGGTCAGCCCCCCCAC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCC GGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	354	0.0028	709	c.40 others(720): Show c.4035_*4036insCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCCGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGCGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGGCTGACCCCCCCC	NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding		3944		chr15	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(702): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	294	0.0034	709	c.902 others(724): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCC TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 8931 hits)