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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
BRF1_chr14_105204286_105306001	105231799	G G	GCAGCCCC others(401): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	72	0.0139	408	c.695 others(425): Show c.695-2887_695-2886insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105232418	C C	CGTGGCAC others(401): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGA CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0061 a0001c0002t0005g0061	1	72	0.0139	408	c.695 others(425): Show c.695-3506_695-3505insAGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105233329	G G	GCAGCCCC others(401): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	72	0.0139	408	c.695 others(425): Show c.695-4417_695-4416insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105236090	T T	TGTGGCAC others(401): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	72	0.0139	408	c.694 others(425): Show c.694+5174_694+5175insGGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237014	C C	CCCTCAGG others(401): Show CCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTG TCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGG CACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCAC TGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCCGT GGCAGCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACC ACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCC GTGGCAGCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACA CCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCC CCGTGGCAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	72	0.0139	408	c.694 others(425): Show c.694+4250_694+4251insCTGCCACGGGGCTGCCAGGCTGTCCCCC GCCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGA GATGCTAGGTTGTTGCTCCTGAGGCTGCCACGGGGCTGCCAGGCTGTCCC CCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCT GAGATGCTAGGTTGTTGCTCCTGAGGCTGCCACGGGGCTGTCAGGCTGTC CCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTC CTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTG TCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTC TCCTGAGATGCTAGGTTGTTGCTCCTGAGG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237980	T T	TGTCCGCG others(401): Show TGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGT GGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACC ACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCC GTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACA CCACCGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCC CCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCA CACCACCGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAG CCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGC CACACCACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0004 a0001c0002t0005g0004	1	72	0.0139	408	c.694 others(425): Show c.694+3284_694+3285insAGTGGTGTGGCCTCTCTCTCCTGAGATG CTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGC CCCCAGCTGGGCGACTACGCGGACGGTGGTGTGGCCTCTCTCTCCTGAGA TGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCC GCCCCCAGCTGGGCGACTACGCGGACGGTGGTGTGGCCTCTCTCTCCTGA GATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCC CCGCCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCT GAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTC CCCCGCCCCCAGCTGGGCGACTACGCGGAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239659	T T	TGTGGCAC others(401): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGA CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GACAGCCCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	72	0.0139	408	c.694 others(425): Show c.694+1605_694+1606insGGGGCTGTCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239958	G G	GCAGCCCC others(401): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	72	0.0139	408	c.694 others(425): Show c.694+1306_694+1307insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240271	T T	TGTGGCAC others(401): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGGGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GACAGCCCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0061 a0001c0002t0005g0061	1	72	0.0139	408	c.694 others(423): Show c.694+993_694+994insGGGGCTGTCAGGCTGTCCCCCGCCCCCAGC TGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGG TTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACCCGGACAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(401): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGA TGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATG GTGGTGGTGGTGGTGATGGTGATGATGGTGATGGTGGTGGTGATGGTGAT GATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGATGG TGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGATG GTGGTGATGGTAGTGGTGGTGGTGATGGTGATGATGATGGTGGTGATGGT AGTGGTGATGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGG TGATGGTGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18954.hp1 HG02080.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0137 a0001c0001t0010g0181 a0001c0001t0010g0137 a0001c0001t0010g0181	2	292	0.0069	408	c.21 others(423): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCATC ACCATCACCACCACCACTACCATCACCACCATCATCACCATCACCACCAC CACCATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCA CCACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCATCATCACCATCACCACCATCATCA CCATCACCACCACCATCACCACCATCACCATCACCACCACCACCATCACC ACCATCATCACCATCACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C20orf96_chr20_265863_295750	279026	G G	GGGAGGGA others(401): Show GGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGACG GAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGACGGA GGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGGAGG GAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGA GGGCGGGAGGGAGGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGG GTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGA GGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGG GACGGAGGGACGGAGGGCGGGAGGGAGGGAGGGACGGAGGGCGGGAGGGA GGGAGGGAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0069 a0002c0004t0001g0069	1	410	0.0024	408	c.465 others(423): Show c.465+145_465+146insGTCCCTCCCTCCCTCCCGCCCTCCGTCCCT CCCTCCCTCCCGCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCC CTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCT CCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCC CGCCCTCCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGT CCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCC GTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCT CCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCC CTCCGTCCCTCCGTCCCGCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CABLES1_chr18_23130485_23265470	23218348	C C	CCTCCCGC others(401): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCAT CCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	278	0.0036	408	c.108 others(427): Show c.1088+4317_1088+4318insCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCAT CCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGGCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218372	G G	GTTCCCGC others(401): Show GTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCATCCTCAC TTGCCCTGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0043 a0003c0009t0043	a0003c0009t0043g0265 a0003c0009t0043g0265	1	278	0.0036	408	c.108 others(427): Show c.1088+4318_1088+4319insTTCCCGCATCCTCACTTGCCCTGCCT CCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCC CGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCG CATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCA TCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATC CTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCT CACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCA CTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACT TGCCCTGGTTCCCGCATCCTCACTTGCCCTGC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9			chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218492	C C	CCTCCCGC others(401): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCAT CCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0069 a0001c0001t0027g0069	1	278	0.0036	408	c.108 others(427): Show c.1088+4485_1088+4486insCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCAC TTGCCCTGCCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(401): Show GAAGGGGGAGGAAGTGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGGA AGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGGAA GGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGGAAGCGGGAGGAAG GGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGGGGGAGGAAGGG GGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGG GGGAAGCGGGAGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAGGGGG AGGAAGGGGGGAAGCGGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTA AGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG03540.hp1 others(1): Show HG02559.hp1 HG02886.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 others(1): Show a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087	4	234	0.0171	408	c.207 others(425): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTC CCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCCC CCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCC CTTCCTCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCC TTCCTCCCATTTCCTCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCT TCCTCCCATTTCCTCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTT CCTCCCATTTCCTCCCACTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(401): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0045	1	328	0.0031	408	c.100 others(427): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(401): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	398	0.0025	408	c.666 others(423): Show c.666+224_666+225insCGGGGGCCCTCCAGGGCGGGCTCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802884	C C	CCCAAGGC others(401): Show CCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19088.hp1 NA18959.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0229 a0001c0001t0001g0021 a0001c0001t0001g0229	2	398	0.0050	408	c.666 others(423): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCTCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCN4_chr8_133186039_133236690	133214072	C C	CTATATAT others(401): Show CTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTAT ACATACTATATATACACTATATATAGTAGTTATACATACACTATATAGTA GTTATATATACTACATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAG TTATATATACTATATATACACTATATATAGTAGTTATATATACTATATAT ACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTA TATATACTATATATACTATATATAGTAGTTATATATACTATATATACTAT ATATAGTAGTTATATATACTATATATACTATATATAGTTTATATATATAC TATATATAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0067 a0001c0012t0001g0067	1	396	0.0025	408	c.349 others(423): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACTATATATACACTATATATAGTAGTTATACATACACTATATAG TAGTTATATATACTACATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGT TATATATACTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTAGTTATATATACTATATATACTATATATAGTTTATATATAT ACTATATATAGTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CENPJ_chr13_24877279_24927861	24882005	G G	GATACATC others(401): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0252 a0001c0002t0007g0252	1	440	0.0023	408	c.11 others(419): Show c.1171_*1172insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCT ATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTAT ATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATAT ATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATAT AGATGTATCTATATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		273		chr13	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(401): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCCTTCTTCCCTCCTCCCTTC CCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCCTTCTTCCCT CCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCTTCCTCTTCTTCCTCC CTCCCTCCTCCCTTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCC CTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCCT TCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCC TTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	354	0.0028	408	c.69 others(419): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCCTTC TTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCT CCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCT TCCTCTTCTTCCTCCCTCCCTCCTCCCTTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCCCCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTACCCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132852177	A A	AATTCTCA others(401): Show AATTCTCAGATCCCAATCCACAGACGTGGTATGTTCCTCCATTTACTTAG ACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTTA AGAATTCTCAGATCCTGATCCACAGACGTAGTATGTTCCTCCAGTTACTT AGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACT TAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTAC GTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTA CTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCATTT ACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCATT TACTTAGAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0002 a0010c0072t0002	a0010c0072t0002g0004 a0010c0072t0002g0004	1	246	0.0041	408	c.557 others(425): Show c.5575-873_5575-872insGTCTAAGTAAATGGAGAAACATACCACG TCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCAC GTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCA CGTCTGTGGATCAGGATCTGAGAATTCCTACGTAAATGGAGGAACATACC ACGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATAC CACGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATA CTACGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACAT ACCACGTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACA TACCACGTCTGTGGATTGGGATCTGAGAAT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852325	T T	TTAAGAAT others(401): Show TTAAGAATTCTCAGATCCTGATCCACAGACGTAGTATGTTCCTCCAGTTA CTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTT ACGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATT TACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCAT TTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCA TTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCC AGTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTC CATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCT CCATTTACG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01192.hp2 HG00323.hp2 HG00738.hp1 HG01192.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0002 a0014c0014t0002	a0014c0014t0002g0081 a0014c0014t0002g0082 a0014c0014t0002g0083 a0014c0014t0002g0081 a0014c0014t0002g0082 a0014c0014t0002g0083	3	246	0.0122	408	c.557 others(427): Show c.5575-1021_5575-1020insCGTAAATGGAGGAACATACCACGTCT GTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTC TGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACCACGT CTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACG TCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCAC GTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCA CGTCTGTGGATCAGGATCTGAGAATTCCTACGTAAATGGAGGAACATACC ACGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATAC TACGTCTGTGGATCAGGATCTGAGAATTCTTA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(401): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCAGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0053 a0053	a0053c0061 a0053c0061	a0053c0061t0002 a0053c0061t0002	a0053c0061t0002g0214 a0053c0061t0002g0214	1	216	0.0046	408	c.141 others(425): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCAGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(401): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02572.hp1 NA19082.hp1 HG01952.hp1 HG02572.hp1 NA19082.hp1	a0011 a0025 a0027 a0011 a0025 a0027	a0011c0030 a0025c0066 a0027c0064 a0011c0030 a0025c0066 a0027c0064	a0011c0030t0001 a0025c0066t0001 a0027c0064t0001 a0011c0030t0001 a0025c0066t0001 a0027c0064t0001	a0011c0030t0001g0185 a0025c0066t0001g0170 a0027c0064t0001g0168 a0011c0030t0001g0185 a0025c0066t0001g0170 a0027c0064t0001g0168	3	216	0.0139	408	c.141 others(425): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP61_chr20_20047532_20365698	20337644	A A	ATGGATAG others(401): Show ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19081.hp2 HG03942.hp1 NA19081.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0023c0044 a0001c0001 a0023c0044	a0001c0001t0001 a0023c0044t0001 a0001c0001t0001 a0023c0044t0001	a0001c0001t0001g0206 a0023c0044t0001g0058 a0001c0001t0001g0206 a0023c0044t0001g0058	2	236	0.0085	408	c.342 others(427): Show c.3423-4184_3423-4183insATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGG ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGGTGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFD_chr19_854664_868641	866701	C C	CACGGGCC others(401): Show CACGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCA TCGCGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCC GCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACC CATCGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCGC CCGCCACGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCA CCCACCGCAGGCCCGCACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCC ACCCGCCGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCCTCCCCGTC CACCCGCCGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCCTCTCCGT CCGCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	287	0.0035	408	c.34 others(419): Show c.3463_*3464insACGGGCCCGCACCCCTCGCCAGCGCTCCCATCTC CTCTCCGTCCACCCATCGCGGGCCCGCACCCCTCGCCAGCGCTCCCATGT CCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATC TCCTCTCCGTCCACCCATCGCGGGCCCGCACCCCTCGCCAGCGCTCCCAT CTCCTCTCCGTCCGCCCGCCACGGGCCCGCACCCCTCGCCAGCGCTCCCA TCTCCTCTCCGTCCACCCACCGCAGGCCCGCACCCCTCACCAGCGCTCCC ATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCTCACCAGCGCTCC CATCTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCTCACCAGCGCTC CCATCTCCTCTCCGTCCGCCCACT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3061		chr19	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(401): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATAC ATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACAC GTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATAT ACATGTGTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0194 a0008c0012t0002g0194	1	372	0.0027	408	c.894 others(423): Show c.894+750_894+751insCACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(401): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGAGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGAGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0360 a0006c0007t0003g0360	1	372	0.0027	408	c.894 others(423): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACTCATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACTCATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(401): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACACGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	372	0.0027	408	c.894 others(423): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGTAT ATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(401): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACACGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02004.hp1 HG02056.hp2 others(2): Show HG01975.hp2 HG02004.hp1 HG02056.hp2 HG03195.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0094 a0002c0002t0001g0027 a0002c0002t0001g0079 others(2): Show a0001c0001t0001g0094 a0002c0002t0001g0027 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0135	5	372	0.0134	408	c.894 others(423): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(401): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACACGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01934.hp2 HG02622.hp2 others(5): Show HG01192.hp2 HG01934.hp2 HG02622.hp2 NA18939.hp1 NA18967.hp1 NA18993.hp1 NA19001.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0102 a0002c0002t0001g0022 a0002c0002t0001g0044 others(5): Show a0001c0001t0001g0102 a0002c0002t0001g0022 a0002c0002t0001g0044 a0002c0002t0001g0051 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0222	8	372	0.0215	408	c.894 others(423): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACGTGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(401): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACACGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00609.hp2 others(8): Show HG00423.hp1 HG00609.hp1 HG00609.hp2 HG01257.hp2 HG01358.hp2 HG01928.hp1 NA18612.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0101 a0002c0002t0001g0002 a0002c0002t0001g0029 others(7): Show a0001c0001t0001g0101 a0002c0002t0001g0002 a0002c0002t0001g0029 a0002c0002t0001g0039 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0126 a0002c0002t0001g0137	11	372	0.0296	408	c.894 others(423): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(401): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACACGTATATATACTCATATACATGTGTATATA TACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18955.hp1 NA18986.hp1 HG01123.hp1 NA18955.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0132 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0132	3	372	0.0081	408	c.894 others(423): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(401): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CACGTATATATACTCATATACATGTGTATATATACACGTATATATACTCA TATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATATA TACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATACT CATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTATA TATACGTGTATATATACTCATATACATGTGTATATATACGTGTATATATA CTCATATACATGTGTATATATACGTGTATATATACTCATATACATGTGTA TATATACGT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	372	0.0027	408	c.894 others(423): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACACGTATATATACACATGTATATGAGTATATATACACGTATATATAC ACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTAT ATATACACGTATATATACACATGTATATGAGTATATATACACGTATATAT ACACATGTATATGAGTATATATACACGTATATATACACATGTATATGAGT ATATATACACGTATATATACACATGTATATGAGTATATATACGTGTATAT ATACACATGTATATGAGTATATATACGTGTATATATACACATGTATATGA GTATATATACGTGTATATATACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(401): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACGTGTATATATACTCATATACATGTGTG TATATACGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0171 a0001c0013t0002g0171	1	372	0.0027	408	c.894 others(423): Show c.894+741_894+742insACGTATATACACACATGTATATGAGTATAT ATACACGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(401): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACGTGTATATATA CTCATATACATGTGTGTATATACGTGTATATATACTCATATACATGTGTG TATATACGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA20905.hp1 HG03195.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0178 a0001c0001t0002g0183	2	372	0.0054	408	c.894 others(423): Show c.894+741_894+742insACGTATATACACACATGTATATGAGTATAT ATACACGTATATACACACATGTATATGAGTATATATACACGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575820	A A	ATGTGTAT others(401): Show ATGTGTATATACACGCGTATATATACTCATATACATGTGTATATACACGC GTATATATACTCATATACATGTGTATATACACGCGTATATATACTCATAT ACATGTGTATATACACGCGTATATATACTCATATACATGTGTATATACAC GCGTATATATACTCATATACATGAGTATATACACGCGTATATATACTCAT ATACATGTGTATATACACGCGTATATATACTCATATACATGTGTATATAC ACGCGTATATATACTCATATACATGTGTGTATACACGCGTATATATACTC ATATACATGTGTGTATACACGCGTATATATACTCATATACATGTGTGTAT ACACGCGTATATATACTCATATACATGTGTGTATACACGTATATATACTC ATATACATG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	372	0.0027	408	c.894 others(423): Show c.894+450_894+451insCATGTATATGAGTATATATACGTGTATACA CACATGTATATGAGTATATATACGCGTGTATACACACATGTATATGAGTA TATATACGCGTGTATACACACATGTATATGAGTATATATACGCGTGTATA CACACATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAG TATATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTA TATACTCATGTATATGAGTATATATACGCGTGTATATACACATGTATATG AGTATATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTG TATATACACATGTATATGAGTATATATACGCGTGTATATACACATGTATA TGAGTATATATACGCGTGTATATACACA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNOT1_chr16_58514951_58634826	58586386	A A	AGGGGAGG others(401): Show AGGGGAGGGCAGGGGGGAGGGGAAGGGGAGGGCAGGGGAGGGGAGGGGGA GGGGAAGGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGA AGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGG GGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGG AAGGGAAGGGGAGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAG GGGAAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAAGGGGAGG GAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAAGGGAAGGGGAG GGAAGGGGAGGGGAGGGGAAGGGGAGAGGGGAGGGGAGGGGGAAGGGGAG GAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	308	0.0033	408	c.637 others(423): Show c.637+158_637+159insCTCCCCCTCCTCCCCTTCCCCCTCCCCTCC CCTCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCC CTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCC CCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCT CCAGTCCCCCCTCCCCTCCCCCTCCCCCCCCTCCCGTCCCCTCCCCTCCA GTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCC TTCCCCTCCCCCTGCCCTCCCCCTTCCCCTCCCCCTCCCCTCCCCTGCCC TCCCCTTCCCCTCCCCCCTGCCCTCCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(401): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGAT GGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGA TGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTG ATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGATGATGGT GGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0016 a0001c0010t0016	a0001c0010t0016g0245 a0001c0010t0016g0246 a0001c0010t0016g0245 a0001c0010t0016g0246	2	308	0.0065	408	c.371 others(427): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT TGGTGGTGGTGATGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCG GGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGAT GGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGA TGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTG ATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGG TGGTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(401): Show GGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGG GCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGA AGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0003 a0001c0076t0003	a0001c0076t0003g0078 a0001c0076t0003g0078	1	344	0.0029	408	c.85- others(425): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCC TGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGC CCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTGCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385705	A A	AGGCCGTG others(401): Show AGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTG GTTACAGTGTGTGGATGGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGT TACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGC GTGTGGATG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0167 a0001c0028t0001g0167	1	372	0.0027	408	c.180 others(427): Show c.180+28187_180+28188insACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGTGTGTG GATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGA TGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATG GGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGCGTGTGGATGGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385705	A A	AGGCCGTG others(401): Show AGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGT TACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGC GTGTGGATG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0037 a0002c0019t0037	a0002c0019t0037g0026 a0002c0019t0037g0026	1	372	0.0027	408	c.180 others(427): Show c.180+28176_180+28177insGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGT TACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGC GTGTGGATGGGCCGTGGTTACAGTGTGTGGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385705	A A	AGGCCGTG others(401): Show AGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGT TACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGC GTGTGGATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG02559.hp2 HG02717.hp2	a0001 a0007 a0001 a0007	a0001c0045 a0007c0059 a0001c0045 a0007c0059	a0001c0045t0003 a0007c0059t0024 a0001c0045t0003 a0007c0059t0024	a0001c0045t0003g0021 a0007c0059t0024g0252 a0001c0045t0003g0021 a0007c0059t0024g0252	2	372	0.0054	408	c.180 others(427): Show c.180+28176_180+28177insGGACCGTGGTTACAGTGTGTGGATAG GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGT TACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTA CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCA GTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGC GTGTGGATGGGCCGTGGTTACAGTGTGTGGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385936	C C	CGTGTGGA others(401): Show CGTGTGGATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTG TGTGGATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACC GTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGT GGCTGCAGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0001 a0002c0038t0001	a0002c0038t0001g0212 a0002c0038t0001g0212	1	372	0.0027	408	c.180 others(427): Show c.180+28402_180+28403insTACAGTGTGTGGATAGGCCGTGGTTG CAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCA GTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGT GTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGTGT GGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGG ATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGAT GGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAG GCCGTGGCTGCAGTGTGTGGATGGGCCGTGGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(401): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCT CCGGCGGTG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0272 a0001c0003t0001g0272	1	412	0.0024	408	c.630 others(423): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTC CGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCG GCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(401): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18969.hp2 NA18979.hp2 others(1): Show NA18747.hp2 NA18969.hp2 NA18979.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	4	448	0.0089	408	c.51+ others(423): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTAGTATACATACTAC ATGATATACATAGTATGTAGTATACATACTACATGATATACATAGTATGT AGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287216	T T	TACTATGT others(401): Show TACTATGTATATCATGTAGTATGTATACTACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	448	0.0022	408	c.51+ others(423): Show c.51+2145_51+2146insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT AGTATACATACTACATGATATACATAGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CR1L_chr1_207640133_207728703	207686124	C C	CTCCCTTC others(401): Show CTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCT CCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCT CCATCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTCCA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0250 a0001c0001t0001g0256	2	346	0.0058	408	c.463 others(425): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCAT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2C_chr10_269201_694668	323074	C C	CTGTTAGA others(401): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAG ACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCA GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAG CGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGC GAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAG AGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGA GGCCGGCGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	88	0.0114	408	c.392 others(427): Show c.3924+3931_3924+3932insACGCCGGCCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCA CCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCACTGGAGCCCCGCAC CCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACC CCCGACTGACTGTTCTAACAACACTGGTCTCTCGCTGGAGCCCCGCACCC CCGACTGACTGTTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCACCCC CGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCC GCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCG CACCCCCGCACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)