Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP46_chr10_132803392_132947570	132917898	T T	TGCACCTC others(203): Show TGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCG ATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCTC CACGACGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAG CACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCC CTCTCCACGAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0002 a0010c0072t0002	a0010c0072t0002g0004 a0010c0072t0002g0004	1	246	0.0041	210	c.198 others(227): Show c.1986+285_1986+494dupGTCGTGGAGAGGGGGGTTCATCGGTGCT GAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGTCGTGGA GAGGGGGGTTCATCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCATCG GTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGTC GTGGAGAGGGGGGTTCATCGGTGCTGAGGTGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CHMP1A_chr16_89639435_89662708	89647522	A A	AGACCCAG others(203): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGT CCGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	392	0.0026	210	c.253 others(225): Show c.253-192_253-191insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCACTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647656	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	392	0.0026	210	c.253 others(225): Show c.253-326_253-325insACTGGGTCTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647691	G G	CACCCAGT others(203): Show CACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	392	0.0026	210	c.253 others(225): Show c.253-360_253-359insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647775	G G	GACCCAGT others(203): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGG CCGACGTGGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	392	0.0026	210	c.253 others(225): Show c.253-445_253-444insGTCCACGTCGGCCGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGC CGCCTTTTCTCCACCGACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647847	C C	CGCCGACG others(203): Show CGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGAGACC CAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGTGGACACCCAGCGCGG GGTCCGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTG GAGAAAAGGCG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03654.hp2 HG02738.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	392	0.0051	210	c.253 others(225): Show c.253-517_253-516insCGCCTTTTCTCCACCGACCCCGCGCTGGGT CTCCACGTCGGCCGCCTTTTCTCCACGGACCCCGCGCTGGGTGTCCACGT CGGCCGCCTTTTCTCCACGGACCCCGCGCTGGGTCTCCACGTCGGCCGCC TTTTCTCCACGGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCGCTGGGTCCCCACGTCGGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648043	G G	GGTGGAGA others(203): Show GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGACACCCA GCGCGGGGTCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0354 a0001c0001t0021g0354	1	392	0.0026	210	c.253 others(225): Show c.253-713_253-712insGGACCCCGCGCTGGGTGTCCACGTCGGCCG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCT CCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACGGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCT GGGTCTCCACGTCGGCGGCCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648118	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GAGGACCCAGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	392	0.0026	210	c.253 others(225): Show c.253-788_253-787insACTGGGTCCTCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648153	G G	GACCCAGT others(203): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	392	0.0026	210	c.253 others(225): Show c.253-823_253-822insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648183	C C	CGCCGACG others(203): Show CGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACC CAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTG GAGAAAAGGCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	392	0.0026	210	c.253 others(225): Show c.253-853_253-852insAGCCTTTTCTCCACCGACCCCGCACTGGGT CTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCACTGGGTGTCCACGTCGGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648194	A A	AGACCCAG others(203): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	392	0.0026	210	c.253 others(225): Show c.253-864_253-863insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648320	A A	AGACCCAG others(203): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	392	0.0026	210	c.253 others(225): Show c.253-990_253-989insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTGTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648328	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0030 a0001c0001t0014g0030	1	392	0.0026	210	c.253 others(225): Show c.253-998_253-997insACTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648404	G G	GGACCCAG others(203): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	392	0.0026	210	c.252 others(225): Show c.252+946_252+947insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	392	0.0026	210	c.252 others(225): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCGGCCTTTTCTC CACGGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	392	0.0026	210	c.252 others(225): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(203): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG04199.hp1 HG01891.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0147 a0001c0001t0001g0153	2	392	0.0051	210	c.252 others(225): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648428	A A	AAAAGGCC others(203): Show AAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	392	0.0026	210	c.252 others(225): Show c.252+922_252+923insGCTCCACCGACCCCGCGCTGGGTCTCCACG TCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGC CTTTTCTCCACGGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTC CACGGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCGGCCTTT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHM_chrX_85856180_86052558	85911190	T T	TATATATA others(203): Show TATATATATGAATATATATATATGAATATATATATGAATATATATATATG AATATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATCTGAATATATATATGAATATATATATGAATATATATATGAATA TATATATGAATATATATATGAATATATATATAAATATATATATGAATATA TATATATATGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	245	0.0041	210	c.124 others(225): Show c.1244+70_1244+71insTCATATATATATATATTCATATATATATTT ATATATATATTCATATATATATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATATTCAGATATATTCATATATATATTCATATAT ATATTCATATATATATTCATATATATATATTCATATATATATATTCATAT ATATATTCATATATATATATTCATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911190	T T	TATATATA others(203): Show TATATATATGAATATATATATATGAATATATATATGAATATATATATATG AATATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATCTGAATATATATATGAATATATATATGAATATATATATGAATA TATATATGAATATATATATGAATATATATATGAATATATATATGAATATA TATATATATGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	245	0.0041	210	c.124 others(225): Show c.1244+70_1244+71insTCATATATATATATATTCATATATATATTC ATATATATATTCATATATATATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATATTCAGATATATTCATATATATATTCATATAT ATATTCATATATATATTCATATATATATATTCATATATATATATTCATAT ATATATTCATATATATATATTCATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CLPTM1L_chr5_1312752_1350099	1333458	T T	TGAGGATA others(203): Show TGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGG ACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACA CCGGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGACAAG CGGGAACTACTGTATACACACCGGAAGAGGATAAGGGGGGACTACTGTAT ACACACCGCAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	370	0.0027	210	c.891 others(225): Show c.891+830_891+831insTTGCGGTGTGTATACAGTAGTCCCCCCTTA TCCTCTTCCGGTGTGTATACAGTAGTTCCCGCTTGTCCTCATCCGGTGTG TCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGTAGTCCCC CCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCG GTGTGTATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333643	G G	GACTACTG others(203): Show GACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACAC ACGGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAA GGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTA TACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAG GACAAGCGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG00735.hp1 others(4): Show HG00438.hp1 HG00733.hp1 HG00735.hp1 HG01978.hp2 HG02615.hp2 HG03209.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0268 a0001c0001t0001g0286 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0268 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0003g0343 a0001c0001t0003g0344	7	370	0.0189	210	c.891 others(225): Show c.891+645_891+646insTCCCGCTTGTCCTCATCCGGTGTGTCTACA GTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTAT CCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGT ATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTATACAGTAGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(203): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAG GGGGGACTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTAT ACACACCGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00544.hp1 others(45): Show HG00140.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02074.hp1 HG02109.hp1 HG02155.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18948.hp2 NA18955.hp1 NA18979.hp2 NA18992.hp2 NA19000.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0004 a0001c0001t0001 a0001c0002t0001 a0002c0003t0004	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0022 others(43): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0248 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0002t0001g0018 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0002c0003t0004g0250 a0002c0003t0004g0251 a0002c0003t0004g0252 a0002c0003t0004g0253	48	370	0.1297	210	c.891 others(225): Show c.891+624_891+625insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCC GTGTGTATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNBD1_chr8_86861415_87387859	87136772	T T	TATTTATA others(203): Show TATTTATATTATATATAAATATATATATTTATATTATATTTATATTATAT ATAAATATATATATTTATATTATATATAAATATATATATTTATATTATAT ATAAATATATATATTTATATTATATATAAATATATATATTTATATATATA TAAATATATATATTTATATTATATATAAATATATATATTTATATTATATA TAAATTATATA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	152	0.0066	210	c.432 others(229): Show c.432-69202_432-69201insATATATATTTATATTATATTTATATT ATATATAAATATATATATTTATATTATATATAAATATATATATTTATATT ATATATAAATATATATATTTATATTATATATAAATATATATATTTATATA TATATAAATATATATATTTATATTATATATAAATATATATATTTATATTA TATATAAATTATATAATTTATATTATATATAAAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(203): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	223	0.0045	210	c.-42 others(221): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGAAA others(203): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0078 a0004c0078	a0004c0078t0001 a0004c0078t0001	a0004c0078t0001g0068 a0004c0078t0001g0068	1	344	0.0029	210	c.85- others(227): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481040	T T	TTCTGTCC others(203): Show TTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCATTGCTGG AGACACACTGTTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02135.hp1 NA18612.hp2 others(1): Show HG00323.hp2 HG02135.hp1 NA18612.hp2 NA18963.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0001c0008 a0002c0017 others(1): Show a0001c0005 a0001c0008 a0002c0017 a0004c0009	a0001c0005t0001 a0001c0008t0003 a0002c0017t0002 others(1): Show a0001c0005t0001 a0001c0008t0003 a0002c0017t0002 a0004c0009t0001	a0001c0005t0001g0102 a0001c0008t0003g0081 a0002c0017t0002g0316 others(1): Show a0001c0005t0001g0102 a0001c0008t0003g0081 a0002c0017t0002g0316 a0004c0009t0001g0111	4	372	0.0108	210	c.275 others(227): Show c.2758+661_2758+662insGTTGCTGGAGACACACTGCTCTGTCCCT CCATTGCTGGAGACACACTGTTCTGTCCCTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481100	T T	TTCTGTCC others(203): Show TTCTGTCCCTCCATTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0084 a0002c0006t0003g0084	1	372	0.0027	210	c.275 others(227): Show c.2758+717_2758+718insCTCCATTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481100	T T	TTCTGTCC others(203): Show TTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp1 HG02155.hp2 others(2): Show HG00544.hp2 HG01069.hp1 HG02155.hp2 NA19007.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0017 a0002c0092 a0001c0004 a0002c0017 a0002c0092	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(2): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0002c0017t0002 a0002c0092t0001	a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0003g0140 others(2): Show a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0003g0140 a0002c0017t0002g0300 a0002c0092t0001g0230	5	372	0.0134	210	c.275 others(227): Show c.2758+717_2758+718insCTCCATTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481130	T T	TTCTGTCC others(203): Show TTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	372	0.0027	210	c.275 others(227): Show c.2758+751_2758+752insGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A1_chr21_45976770_46010048	45988211	G G	GGGGTCCA others(203): Show GGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG TCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATG GAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01943.hp1 others(3): Show HG00642.hp1 HG00733.hp1 HG01943.hp1 HG01943.hp2 HG02602.hp1 HG03927.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0028 a0002c0002 a0003c0028	a0002c0002t0001 a0002c0002t0008 a0003c0028t0001 a0002c0002t0001 a0002c0002t0008 a0003c0028t0001	a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0078 others(3): Show a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0078 a0002c0002t0001g0127 a0002c0002t0008g0051 a0003c0028t0001g0053	6	128	0.0469	210	c.804 others(225): Show c.804+560_804+561insTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGA GGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGG GACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGAC GGCGGGGGTCCAGATGGAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988350	G G	GGGGTCCA others(203): Show GGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGG GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTC CAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAG ATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGCTCCAGATG GAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	128	0.0078	210	c.804 others(225): Show c.804+698_804+699insGTCCAGATGGAGGGGACGGCGGGGCTCCAG ATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATG GAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAG GGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGA TGTCGGGGCTCCAGATGGAGGGGACGGCGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116129676	A A	ATATATAT others(203): Show ATATATATACTATATACTAATGTAATATACATTAGTATATATATACTATA TACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATAT ACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATAT ATACTATATACTATGTAATATACATTAGTATATATACTATATACTATGTA ATATACATTAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03942.hp1 NA18977.hp1 others(3): Show HG03654.hp1 HG03942.hp1 NA18977.hp1 NA19000.hp2 NA19079.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0078 a0001c0001t0001g0271 a0001c0001t0001g0273 others(3): Show a0001c0001t0001g0078 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0288 a0001c0001t0007g0289	6	350	0.0171	210	c.400 others(227): Show c.400-4374_400-4373insATGTAATATACATTAGTATATATATACT ATATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAA TATACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATA TATATACTATATACTATGTAATATACATTAGTATATATACTATATACTAT GTAATATACATTAGTATATATACTATATACTA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(203): Show GCCCCGCCCCTCCCTGCCCCCTCAGTCTGTGGCCCCGCCCCGCCCCGCCC CCTCAGTCCGTGGCCCCGCCCCCTCCACACCGGGACCCGCCCCCCGCCCA CCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCCGCCGCCCCTG CCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCTGCCCCCGCCCCCGCC CCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0158 a0001c0007t0006g0158	1	348	0.0029	210	c.927 others(225): Show c.927+237_927+238insTCCCTGCCCCCTCAGTCTGTGGCCCCGCCC CGCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCCTCCACACCGGGACCCGC CCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCC GCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCTGCCCC CGCCCCCGCCCCCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923587	A A	AACCCGGC others(203): Show AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCC ACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCCACACTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01981.hp2 HG02109.hp1 others(3): Show HG01109.hp1 HG01981.hp2 HG02109.hp1 HG03710.hp1 HG04228.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0003g0064 others(3): Show a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0003g0064 a0002c0002t0001g0168 a0002c0002t0002g0260 a0002c0002t0002g0268	6	350	0.0171	210	c.488 others(225): Show c.488+946_488+947insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923638	A A	AACCCGGC others(203): Show AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCC ACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCCACACTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0296 a0008c0008t0002g0296	1	350	0.0029	210	c.488 others(225): Show c.488+997_488+998insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923655	A A	AACCCGGC others(203): Show AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCC ACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCCACACTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG02572.hp2 HG02723.hp2	a0024 a0047 a0024 a0047	a0024c0091 a0047c0090 a0024c0091 a0047c0090	a0024c0091t0001 a0047c0090t0001 a0024c0091t0001 a0047c0090t0001	a0024c0091t0001g0133 a0047c0090t0001g0112 a0024c0091t0001g0133 a0047c0090t0001g0112	2	350	0.0057	210	c.488 others(227): Show c.488+1014_488+1015insGGCCCCCCACACTAACCCAGTCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCC ACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCC CCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCACACTAACCCGGCCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461482	G G	GGACCTAT others(203): Show GGACCTATCCACACAGCAGCCACATTCACCATGGGGGCTGTATCCGCACA GCACACACATTCACCGTGGAGGGCGTATCCGCACAGCGGCCACATTCACC ATGGAGGGCCTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCC GCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACAT TCACCATGGAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	238	0.0042	210	c.635 others(227): Show c.635-2841_635-2840insATCCATGGTGAATGTGGCCGCTGTGCGG ATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGG TGAATGTGGCCGCTGTGCGGATAGGCCCTCCATGGTGAATGTGGCCGCTG TGCGGATACGCCCTCCACGGTGAATGTGTGTGCTGTGCGGATACAGCCCC CATGGTGAATGTGGCTGCTGTGTGGATAGGTC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461499	A A	AGCCACAT others(203): Show AGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCAT GGAGGGCCTATCCGCACAGCAGCCACATTCACCATGGAGGGCCTATCCGC ACAGCGGCCACATTCACCATGGGGGGCGTATCCACACAGCGGCCACATTC ACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTA TCCGCACAGCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0047 a0001c0002t0006g0047	1	238	0.0042	210	c.635 others(227): Show c.635-2858_635-2857insCGCTGTGCGGATACGCCCCCCATGGTGA ATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGT GGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATAGGCCCTCCAT GGTGAATGTGGCTGCTGTGCGGATAGGCCCTCCATGGTGAATGTGGCCGC TGTGCGGATACGCCCCCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411981	C C	CCTATACA others(203): Show CCTATACATGCACGTAAATATGCACCTATATATGCACGTATATATGCACG TATATATGCACACGTATATATGCACGTATATATGCACACGTATATATGCA CGTATATATGCACGTATATATGCACGTATATATGCACACGTATATATGCA CACGTATATATGCATACGTATATATGCACGTATATATGCATACGTATATA TGCACGTATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02683.hp2 HG01261.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0108 a0002c0037 a0001c0108 a0002c0037	a0001c0108t0054 a0002c0037t0009 a0001c0108t0054 a0002c0037t0009	a0001c0108t0054g0074 a0002c0037t0009g0046 a0001c0108t0054g0074 a0002c0037t0009g0046	2	126	0.0159	210	c.156 others(229): Show c.1562-2377_1562-2376insATATACGTGCATATATACGTATGCAT ATATACGTGCATATATACGTATGCATATATACGTGTGCATATATACGTGT GCATATATACGTGCATATATACGTGCATATATACGTGCATATATACGTGT GCATATATACGTGCATATATACGTGTGCATATATACGTGCATATATACGT GCATATATAGGTGCATATTTACGTGCATGTATAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CTBP1_chr4_1206445_1254130	1236695	A A	ACAGGGCA others(203): Show ACAGGGCAAACCAAGTGTCCACCTCCTGATGGGGCACAGGGCAAACCAAG TGTCCACCTCCTGATGGGGCTCAGGACAAACCCGGTGTCCACCTCCTGAT GGGGCTCAGGGCAAACCGAATGTCCACCTCCTGATGGGGCTCAGGACAAA CCCGGTGTCCACCTCCTGATGGGGCTCAGGGAAAACCAAATGTCCACCTC CTGATGGGGCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	422	0.0024	210	c.162 others(227): Show c.162+1487_162+1488insAGCCCCATCAGGAGGTGGACATTTGGTT TTCCCTGAGCCCCATCAGGAGGTGGACACCGGGTTTGTCCTGAGCCCCAT CAGGAGGTGGACATTCGGTTTGCCCTGAGCCCCATCAGGAGGTGGACACC GGGTTTGTCCTGAGCCCCATCAGGAGGTGGACACTTGGTTTGCCCTGTGC CCCATCAGGAGGTGGACACTTGGTTTGCCCTG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTBP1_chr4_1206445_1254130	1236695	A A	ACAGGGCA others(203): Show ACAGGGCAAACCAAGTGTCCACCTCCTGATGGGGCACAGGGCAAACCAAG TGTCCACCTCCTGATGGGGCTCAGGACAAACCCGGTGTCCACCTCCTGAT GGGGCTCAGGGCAAACCGAATGTCCACCTCCTGATGGGGCTCAGGACAAA CCCGGTGTCCACCTCCTGATGGGGCTCAGGGCAAACCAAATGTCCACCTC CTGATGGGGCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(138): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0022 a0001c0005t0001 a0001c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(119): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0341 a0001c0001t0001g0347 a0001c0001t0002g0285 a0001c0001t0002g0325 a0001c0001t0008g0287 a0001c0001t0008g0292 a0001c0001t0010g0074 a0001c0001t0010g0087 a0001c0001t0012g0040 a0001c0001t0015g0330 a0001c0001t0022g0353 a0001c0005t0001g0013 a0001c0010t0001g0099	141	422	0.3341	210	c.162 others(227): Show c.162+1487_162+1488insAGCCCCATCAGGAGGTGGACATTTGGTT TGCCCTGAGCCCCATCAGGAGGTGGACACCGGGTTTGTCCTGAGCCCCAT CAGGAGGTGGACATTCGGTTTGCCCTGAGCCCCATCAGGAGGTGGACACC GGGTTTGTCCTGAGCCCCATCAGGAGGTGGACACTTGGTTTGCCCTGTGC CCCATCAGGAGGTGGACACTTGGTTTGCCCTG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTDP1_chr18_79674803_79759503	79752746	C C	GGCTGGTT others(203): Show GGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTT ATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAG GCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAA GGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCC TAGTGGCACCC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0309 a0004c0004t0001g0309	1	378	0.0027	210	c.274 others(227): Show c.2748-907_2748-906insGGCTGGTTATGCAGAGGCTCGTAAGGAA AGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGT GGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGG CTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTAT GCAGAGGCTCCTAAGGAAAGCCTAGTGGCACC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12			chr18	TogoVar
CUX2_chr12_111029165_111355554	111326378	T T	TGTGATGG others(203): Show TGTGATGGGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGGTTGGTTTTGTTTATAG TGTTGTGGTGGGGGAGGGGTGGGTTTATTTATAGTGTTGTGGTGGGGGAG GGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTTGGTTTTGTTT ATAGTGTTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp2 HG02615.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0031 a0001c0009t0001g0035 a0001c0009t0001g0031 a0001c0009t0001g0035	2	100	0.0200	210	c.292 others(229): Show c.2926+3801_2926+3802insATGGGGAGGGGTTGGTTTTGTTTATA GTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGA GGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTATTT ATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGG GGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP4F3_chr19_15635897_15667825	15650776	G G	GTTCTTTC others(203): Show GTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTCTCTCTTCTC TTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTTCCTTCCT TCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTT CTTTCTTTCTTTCTTTCTTTCTCTCTCTTCTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0032 a0001c0005t0032	a0001c0005t0032g0035 a0001c0005t0032g0035	1	424	0.0024	210	c.918 others(225): Show c.918+614_918+615insCTTTCTTTCTTTCTTTCTCTCTCTTCTCTT TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTC CATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTTCT TTCTTTCTTTCTTTCTTTCTCTCTCTTCTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78269075	T T	TTATATAT others(203): Show TTATATATATTATATAATATATATAATATATATATTATATATAATATATA ATATATTATTATATATATTATAAATTATATAATATATATAATATATATAT TATATATAATATATTATATATTATATAATATATAATATATATAATATATA ATATATTATATATAATATATTATATATTATATAATATATATATAATATAT AATATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	240	0.0042	210	c.36 others(221): Show c.3657_*3658insTATTATATATTATATATTATATATATATTATATA ATATATAATATATTATATATAATATATTATATATTATATATATTATATAT TATATAATATATAATATATTATATATAATATATATATTATATATATTATA TAATTTATAATATATATAATAATATATTATATATTATATATAATATATAT ATTATATATATTATATAATATATATA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2392		chrX	TogoVar
DCDC2C_chr2_3698575_3853008	3704709	A A	AGGGGGGA others(203): Show AGGGGGGAGGGGCGTGGGGGAGGGGCATGGGGCAGAAACAGGGGTGTGGA GGAGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGGGC GTGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGAGGGGTGTGGAGAGGGGC ATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGAGGAGTGTAG GGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0010 a0002c0003t0005g0010	1	324	0.0031	210	c.287 others(225): Show c.287+690_287+691insAGGGGCATGGGGCAGAAACAGGGGTGTGGA GGAGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGGGC GTGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGAGGGGTGTGGAGAGGGGC ATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGAGGAGTGTAG GGGAGGGGGAGGGGGGGAGGGGCGTGGGGG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24220873	A A	AGAGACAG others(203): Show AGAGACAGAGAGCGAGAGAGAGAGAGACAGAGAGCGAGAGCGAGAGAGAC AGAGAGCGAGAGCGAGAGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGCG AGCGAGAGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGCGAGCGAGAGAG TGAGCGAGCGAGCGAGAGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGCG AGCGAGAGAGT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0128 a0002c0002t0003g0128	1	216	0.0046	210	c.923 others(229): Show c.923-15772_923-15771insACTCTCTCGCTCGCTCGCTCACTCTC TCGCTCGCTCGCTCACTCTCTCGCTCGCTCGCTCACTCTCTCGCTCGCTC GCTCACTCTCTCGCTCGCTCGCTCACTCTCTCGCTCGCTCGCTCACTCTC TCGCTCGCTCGCTCACTCTCTCGCTCTCGCTCTCTGTCTCTCTCGCTCTC GCTCTCTGTCTCTCTCTCTCTCGCTCTCTGTCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DGKI_chr7_137376037_137851974	137638574	A A	ATATGTAT others(203): Show ATATGTATATATATGTGTGTATATATATACACACATATATATGTATATAT ATGTGTGTATATATATACACACATATATGTATATATACACATATATACAT ATATGTATATATACACATATATACATATATGTATATATGTGTATATATAC ACATATATACATATATGTATATATGTGTATATATACACATATATACATAT ATGTATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0035 a0001c0002t0014g0035	1	94	0.0106	210	c.804 others(227): Show c.804+6897_804+6898insCATATATACATATATGTATATATGTGTA TATATACACATATATACATATATGTATATATGTGTATATATACACATATA TACATATATGTATATATGTGTATATATACATATATGTATATATGTGTATA TATACATATATGTGTGTATATATATACACACATATATATACATATATATG TGTGTATATATATACACACATATATATACATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(203): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	284	0.0035	210	c.101 others(229): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar

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