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
CASQ2_chr1_115695021_115773714	115761458	A A	AGGAAGGG others(206): Show AGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAA GGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	364	0.0028	213	c.234 others(230): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761464	G G	GGGAAGGG others(206): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGA GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAA GAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0349 a0002c0003t0001g0349	1	364	0.0028	213	c.234 others(230): Show c.234+6843_234+6844insTCTTCTTCTTCTTCTTCTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AGGAAGGG others(206): Show AGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAG GAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	364	0.0028	213	c.234 others(230): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGGGCAA others(206): Show AAGGGCAACAGAATAAGACTCAGTCAAAAAAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAA GAGGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0005 a0002c0004t0016g0005	1	364	0.0028	213	c.234 others(230): Show c.234+6831_234+6832insCCTTCTCCTTCCTCTTCCTCTCCTTCTC CTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTTTTTTGACTGAGTCTTATTCTGTTGCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AGGAAGGG others(206): Show AGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGAAGAAGGAGAAGGAGAAG GAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAA GAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0052 a0001c0007t0009g0052	1	364	0.0028	213	c.234 others(230): Show c.234+6831_234+6832insCCTTCTCCTTCTTCTTCTCCTTCTCCTT CTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCT TCTTCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC30_chr1_42458286_42662190	42546395	A A	ATATATAT others(206): Show ATATATATATGTATATGTATATATATACACGTATATATATATGTATATAT ATACACGTATATATATATGTATATATATACACGTATATATATATGTATAT ATATACACGTATATATATATGTATATATATACACGTATATATATATGTAT ATATATACACGTATATATATACGTATATATATACACGTATATATATATGT ATATATATACACGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0016 a0002c0003t0003g0016	1	324	0.0031	213	c.890 others(228): Show c.890+816_890+817insTATATATATGTATATGTATATATATACACG TATATATATATGTATATATATACACGTATATATATATGTATATATATACA CGTATATATATATGTATATATATACACGTATATATATATGTATATATATA CACGTATATATATATGTATATATATACACGTATATATATACGTATATATA TACACGTATATATATATGTATATATATACACGT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	9/20			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(206): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCC TTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTT TCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19091.hp1 NA19063.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	410	0.0049	213	c.-22 others(224): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(206): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCC TTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTT TCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	410	0.0024	213	c.-22 others(224): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(206): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCC TTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTT TCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	410	0.0024	213	c.-22 others(224): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(206): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCC TTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTT TCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	213	c.-22 others(224): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(206): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCACCACCCTCCCCCTCCC TTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTT TCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	410	0.0024	213	c.-22 others(224): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(206): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCC TTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTT TCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	213	c.-22 others(224): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(206): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCC TTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTT TCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	410	0.0024	213	c.-22 others(224): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCN4_chr8_133186039_133236690	133213991	T T	TATACTAT others(206): Show TATACTATATATACACTATATATAGTTATATATACTATATATAACTATAT ATAGTAGTTATATATAGTATATATAACTATATATAGTATATATACACTAT ATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTATACAT ACTATATATACACTATATATAGTAGTTATACATACTATATATACACTATA TATAGTAGTTATAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0049	1	396	0.0025	213	c.349 others(228): Show c.349+873_349+874insTATATATACTATATATAACTATATATAGTA GTTATATATAGTATATATAACTATATATAGTATATATACACTATATATAG TAGTTATACATACTATATATACACTATATATAGTAGTTATACATACTATA TATACACTATATATAGTAGTTATACATACTATATATACACTATATATAGT AGTTATACATACTATATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCR9_chr3_45881543_45908174	45890306	T T	TATATATA others(206): Show TATATATATTTATATAAATATATATATAACATATATATATTTATATAAAT ATATATATGTTATATATATATTTATATAAATATATATATAACATATATAT ATTTATATAAATATATATAACATATATATATTTATATAAATATATATATA ACATATATATATTTATATAAATATATATATAACATATATATATTTATATA AATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02523.hp2 NA19072.hp2 HG02129.hp2 HG02523.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0115 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0115	3	424	0.0071	213	c.-29 others(230): Show c.-29+3659_-29+3660insTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATGTTATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATAACATATATATATTTATAT AAATATATATATAACATATATATATTTATATAAATATATATATAACATAT ATATATTTATATAAATATATATATAACATATATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCR9_chr3_45881543_45908174	45890306	T T	TATATATA others(206): Show TATATATATTTATATAAATATATATATAACATATATATATTTATATAAAT ATATATATGTTATATATATATTTATATAAATATATATATAACATATATAT ATTTATATAAATATATATATAACATATATATTTATATAAATATATATATA ACATATATATATTTATATAAATATATATATAACATATATATATTTATATA AATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	424	0.0024	213	c.-29 others(230): Show c.-29+3659_-29+3660insTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATGTTATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATAACATATATATTTATAT AAATATATATATAACATATATATATTTATATAAATATATATATAACATAT ATATATTTATATAAATATATATATAACATATATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(206): Show AGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGG GGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAGACGGGGAGG GGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGGGAGGG GAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0141 a0006c0008t0141	a0006c0008t0141g0251 a0006c0008t0141g0251	1	256	0.0039	213	c.727 others(230): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTGCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CERKL_chr2_181531672_181662105	181606461	A A	AGGGGAGG others(206): Show AGGGGAGGGGAGAGGAGGGGGAGGGGAGGGGAGAGGAGGGGGAGGGGAGG GGAGAGGAGGGGGAGGGGAGGGGGGAGGAGAGGGTAGGGGAGAAGGGGGA GGGTAGGGTAGGGGAGAGGGTAGGGGAGAGGAGGGGGAGGGGAGGGGGGA GGAGAGGGTAGGGGAGAGGAGGGGGAGGGGAGGGTAGGGGAGAGGAGAGG GTAGGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	298	0.0034	213	c.239 others(230): Show c.239-2383_239-2382insCTCCTCTCCCCTACCCTCTCCTCTCCCC TACCCTCCCCTCCCCCTCCTCTCCCCTACCCTCTCCTCCCCCCTCCCCTC CCCCTCCTCTCCCCTACCCTCTCCCCTACCCTACCCTCCCCCTTCTCCCC TACCCTCTCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCTCCCCCT CCTCTCCCCTCCCCTCCCCCTCCTCTCCCCTCCCC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CFAP107_chr1_12741200_12768699	12762156	C C	CCACCTAC others(206): Show CCACCTACCTTAGGGTCACTTTGGCACCTACTAAGCTCCTTCCTTAGTCA TCCAAGTGTCCATGTAAGGACACTGTCTTCCATCCCAACTGAAAGTCAGA GCCTGACACAGGCTAAGTCCTCTATGTTTGTTGGATGAGTGAATGACAGG AGTTGAACAAATGAGTTGAATGAATGAATGACAGGAGGAGGAGCCAGGGG GTGCAGAAAGGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(66): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02109.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02976.hp1 HG03130.hp2 HG03453.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19072.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0026 a0001c0001t0044 a0002c0002t0003 others(3): Show a0001c0001t0026 a0001c0001t0044 a0002c0002t0003 a0002c0002t0009 a0002c0002t0035 a0002c0002t0042	a0001c0001t0026g0108 a0001c0001t0044g0109 a0002c0002t0003g0003 others(23): Show a0001c0001t0026g0108 a0001c0001t0044g0109 a0002c0002t0003g0003 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0068 a0002c0002t0003g0090 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0009g0003 a0002c0002t0009g0106 a0002c0002t0009g0107 a0002c0002t0035g0095 a0002c0002t0042g0017	69	336	0.2054	213	c.12 others(224): Show c.1239_*1240insCTCCTTCCTTAGTCATCCAAGTGTCCATGTAAGG ACACTGTCTTCCATCCCAACTGAAAGTCAGAGCCTGACACAGGCTAAGTC CTCTATGTTTGTTGGATGAGTGAATGACAGGAGTTGAACAAATGAGTTGA ATGAATGAATGACAGGAGGAGGAGCCAGGGGGTGCAGAAAGGTTGCACCT ACCTTAGGGTCACTTTGGCACCTACTAAG	CFAP107	ENSG00000157330.10	transcript	ENST00000614859.5	protein_coding	4/4	1240	INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP107_chr1_12741200_12768699	12762156	C C	CCACCTAC others(206): Show CCACCTACCTTAGGGTCACTTTGGCACCTACTAAGTTCCTTCCTTAGTCA TCCAAGTGTCCATGTAAGGACGCTGTCTTCCATCCCAACTGAAAGTCAGA GCCTGACACAGGCTAAGTCCTCTATGTTTGTTGGATGAGTGAATGACAGG AGTTGAACAAATGAGTTGAATGAATGAATGACAGGAGGAGGAGCCAGGGG GTGCAGAAAGGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0001 a0001c0001t0036g0001	1	336	0.0030	213	c.13 others(224): Show c.1346_*1558dupAATGACAGGAGTTGAACAAATGAGTTGAATGAAT GAATGACAGGAGGAGGAGCCAGGGGGTGCAGAAAGGTTGCACCTACCTTA GGGTCACTTTGGCACCTACTAAGTTCCTTCCTTAGTCATCCAAGTGTCCA TGTAAGGACGCTGTCTTCCATCCCAACTGAAAGTCAGAGCCTGACACAGG CTAAGTCCTCTATGTTTGTTGGATGAGTG	CFAP107	ENSG00000157330.10	transcript	ENST00000614859.5	protein_coding	4/4	1559	INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP61_chr20_20047532_20365698	20356531	G G	GTGAGGGG others(206): Show GTGAGGGGAGGTGGTCACACTGGGGAGGTGGTCACACTGTGAGGGGAGGT GGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGG GGAAGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(18): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG03834.hp1 HG04199.hp1 NA18943.hp2 NA19003.hp2 NA19005.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0026	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0015 a0002c0002 a0002c0004 a0002c0034 a0003c0005 a0006c0011 a0008c0017 a0026c0030	a0001c0001t0002 a0001c0003t0002 a0001c0007t0002 others(10): Show a0001c0001t0002 a0001c0003t0002 a0001c0007t0002 a0001c0015t0002 a0002c0002t0002 a0002c0002t0006 a0002c0004t0002 a0002c0004t0006 a0002c0034t0002 a0003c0005t0002 a0006c0011t0002 a0008c0017t0002 a0026c0030t0002	a0001c0001t0002g0063 a0001c0001t0002g0144 a0001c0001t0002g0190 others(18): Show a0001c0001t0002g0063 a0001c0001t0002g0144 a0001c0001t0002g0190 a0001c0001t0002g0225 a0001c0003t0002g0112 a0001c0007t0002g0222 a0001c0007t0002g0231 a0001c0007t0002g0232 a0001c0015t0002g0201 a0002c0002t0002g0002 a0002c0002t0002g0027 a0002c0002t0002g0097 a0002c0002t0006g0013 a0002c0004t0002g0209 a0002c0004t0006g0020 a0002c0034t0002g0034 a0003c0005t0002g0069 a0003c0005t0002g0218 a0006c0011t0002g0117 a0008c0017t0002g0121 a0026c0030t0002g0056	21	236	0.0890	213	c.351 others(232): Show c.3514-3658_3514-3657insGGGAGGTGGTCACACTGTGAGGGGAG GTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGA GGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGGGAG others(206): Show GAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGG GGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAG GGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGAGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGAGAAGAGGAGAGGAGAAG AGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 HG03540.hp2 HG02723.hp2 HG03139.hp1 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0376 a0001c0001t0001g0377 a0007c0010t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0007c0010t0001g0375	3	384	0.0078	213	c.319 others(230): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCTCTCCTCCC CTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CLDN19_chr1_42728093_42745236	42737848	A A	AATTTTTG others(206): Show AATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC TCGCCCGGCTAATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	428	0.0023	213	c.473 others(228): Show c.473+380_473+381insAATTAGCCGGGCGAGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGG GGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGG CGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAATACAAAAAT	CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding	3/4			chr1	TogoVar
COL19A1_chr6_69861556_70217468	69921450	A A	ATATCATA others(206): Show ATATCATATATATCATATATATCATATATCATATATATCATATATATCAT ATATATCATATATATCATATATATCATATATATCATATATCATATATATC ATATATATCATATATATCATATATATCATATATCATATATATCATATATA TTCATATATTCATATATATCATATATATTCATATATTCATATATATTCAT ATATTCATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	182	0.0055	213	c.267 others(230): Show c.267-6458_267-6457insATCATATATATCATATATATCATATATC ATATATATCATATATATCATATATATCATATATATCATATATATCATATA TATCATATATCATATATATCATATATATCATATATATCATATATATCATA TATCATATATATCATATATATTCATATATTCATATATATCATATATATTC ATATATTCATATATATTCATATATTCATATATATT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL5A3_chr19_9954561_10015504	9970036	G G	GGTCTGTG others(206): Show GGTCTGTGGGTGAGTGGGGTCTGTAAGGTGAGTGGGGTCTGTAAGGTGAG TGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGT GAGTGGGGTCTGTGGGGTAAGCGGGGGCTGTAAGGTGAGTGGGGTCTGTG GGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTAAGGTGAGTGGGGTC TGTGGGTGAGTGGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0002 a0002c0034t0002	a0002c0034t0002g0163 a0002c0034t0002g0163	1	412	0.0024	213	c.393 others(230): Show c.3937-115_3937-114insACCACTCACCCACAGACCCCACTCACCT TACAGCCCCCACTCACCCCACAGACCCCACTCACCCCACAGACCCCACTC ACCTTACAGCCCCCGCTTACCCCACAGACCCCACTCACCCACAGACCCCA CTCACCCCACAGACCCCACTCACCCCACAGACCCCACTCACCTTACAGAC CCCACTCACCTTACAGACCCCACTCACCCACAGAC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(206): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC TCTCCCCTCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0204 a0001c0001t0001g0205	2	350	0.0057	213	c.510 others(232): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPNE7_chr16_89570758_89602246	89588000	C C	CCCCCCGT others(206): Show CCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTTAC CCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	348	0.0029	213	c.928 others(228): Show c.928-666_928-665insCACCCGCGTGTCACCCACAGAAACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACC CGCGTGTTACCCACAGATACACGGCCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924444	G G	GCCCCCCA others(206): Show GCCCCCCACACTAACCCGGCCCCTCACACTAACCCAGCCCCCCACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACAC TGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCC CACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01943.hp1 HG01074.hp2 HG01943.hp1	a0002 a0045 a0002 a0045	a0002c0002 a0045c0064 a0002c0002 a0045c0064	a0002c0002t0001 a0045c0064t0001 a0002c0002t0001 a0045c0064t0001	a0002c0002t0001g0181 a0045c0064t0001g0179 a0002c0002t0001g0181 a0045c0064t0001g0179	2	350	0.0057	213	c.489 others(230): Show c.489-1275_489-1274insCACACTAACCCGGCCCCTCACACTAACC CAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACT AACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCC ACACTGACCCAGCCCCCACACTAACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647293	C C	CCTCCTCC others(206): Show CCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACA CCCCTCCAAATTCCACAGCCCTCCTCCACCTCTACACCCACTGCTCCTCC ACAATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCT CCTCCTCAATCCTCCTCCACACCCCTCCAAATTCCACAGCCCTCCTCCAC CTCTACACCCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	276	0.0036	213	c.51 others(224): Show c.5153_*5154insCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCT CAATCCTCCTCCACACCCCTCCAAATTCCACAGCCCTCCTCCACCTCTAC ACCCACTGCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCAAATTCC ACAGCCCTCCTCCACCTCTACACCCACTG	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1949		chr15	TogoVar
CRY1_chr12_106986364_107098549	107026147	T T	TATATAAC others(206): Show TATATAACATATATAACATATATATGTTATATATGTTATATATGTAATAT ATATTATATATATATTACATATATATATAAAATATATATATATTACATAT ATATATAAAATATATATATATTACATATATATATAAAATATATATATATA TTACATATATATATAAAATATATATATATATTACATATATATATAAAATA TATATATATATTAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	320	0.0031	213	c.159 others(230): Show c.159-3956_159-3955insGTAATATATATATATATTTTATATATAT ATGTAATATATATATATATTTTATATATATATGTAATATATATATATATT TTATATATATATGTAATATATATATATTTTATATATATATGTAATATATA TATATTTTATATATATATGTAATATATATATAATATATATTACATATATA ACATATATAACATATATATGTTATATATGTTATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CSNK1E_chr22_38285691_38322433	38317347	T T	TCGCCGCC others(206): Show TCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG CCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0271 a0001c0001t0095g0271	1	412	0.0024	213	c.-20 others(222): Show c.-201_-200insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCG	CSNK1E	ENSG00000213923.13	transcript	ENST00000396832.6	protein_coding	1/11	3191		chr22	TogoVar
CYBRD1_chr2_171517474_171563129	171558508	T T	TATATATT others(206): Show TATATATTTATATATAATATGTAATATTATATATTTATATATAATATGTA ATATTATATATATATAATATGTAATATTATATATATATAATATGTAATAT TATATATATATAATATGTAATATTATATATATATAATATGTAATATTATA TATATATAATATGTAATATTATATATATATAATATGTAATATTATATATA TATAATATGTAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0307 a0001c0001t0007g0307	1	394	0.0025	213	c.36 others(224): Show c.3681_*3682insATATATTTATATATAATATGTAATATTATATATT TATATATAATATGTAATATTATATATATATAATATGTAATATTATATATA TATAATATGTAATATTATATATATATAATATGTAATATTATATATATATA ATATGTAATATTATATATATATAATATGTAATATTATATATATATAATAT GTAATATTATATATATATAATATGTAATA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		380		chr2	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(206): Show ATATATAAAGTATATATTTATATAAATATTATTATATATAATATATATTT ATATAAATATATATTATATATAAATATATTTATATAAATATATATTTATA AAATATATTATATATAATATATATTATATATAATATATATTATATAAATA TATATTATATAAAATATATATTTATATAAAAATGTATTATATTATATATT ATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18948.hp2 NA18957.hp1 others(5): Show HG04184.hp2 NA18948.hp2 NA18957.hp1 NA18960.hp2 NA18965.hp1 NA18988.hp1 NA19057.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0027 others(1): Show a0001c0001t0009 a0001c0001t0015 a0001c0001t0027 a0001c0001t0059	a0001c0001t0009g0013 a0001c0001t0009g0033 a0001c0001t0009g0036 others(5): Show a0001c0001t0009g0013 a0001c0001t0009g0033 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0015g0035 a0001c0001t0027g0014 a0001c0001t0027g0015 a0001c0001t0059g0034	8	356	0.0225	213	c.539 others(230): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAAATATTA TTATATATAATATATATTTATATAAATATATATTATATATAAATATATTT ATATAAATATATATTTATAAAATATATTATATATAATATATATTATATAT AATATATATTATATAAATATATATTATATAAAATATATATTTATATAAAA ATGTATTATATTATATATTATATAAATATATATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK2_chr4_150073445_150262438	150251015	T T	TCCCCCTC others(206): Show TCCCCCTCACACCCCCCAACACCCCCACACACCCCCCACACCACACATCC CTCACACCCCCCACATCCCCCACACACCCCCCACACCACACATCCCTCAC ACCCCCCACATCCCCCACACACCCCCCACACCACACATCCCCCTCACACC CCCCAACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCA CATCCCCCACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	116	0.0086	213	c.207 others(232): Show c.2073+1336_2073+1337insTCACACCCCCCAACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCCACATCCCCCACACACCCCCC ACACCACACATCCCTCACACCCCCCACATCCCCCACACACCCCCCACACC ACACATCCCCCTCACACCCCCCAACACCCCCACACACCCCCCACACCACA CATCCCTCACACCCCCCACATCCCCCACACACCCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251015	T T	TCCCTCAC others(206): Show TCCCTCACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCT CACACCCCCCACATCCCCCACACACCCCCCACACCACACATCCCCCTCAC ACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCTCACACCCC CCACATCCCCCACACACCCCCCACACCACACATCCCCCTCACACCCCCCA ACACCCCCACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0073 a0004c0005t0001g0073	1	116	0.0086	213	c.207 others(232): Show c.2073+1334_2073+1335insTCACACCCCCCAACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCCACATCCCCCACACACCCCCC ACACCACACATCCCCCTCACACCCCCCAACACCCCCACACACCCCCCACA CCACACATCCCTCACACCCCCCACATCCCCCACACACCCCCCACACCACA CATCCCCCTCACACCCCCCAACACCCCCACACACCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AAATATTA others(206): Show AAATATTATATAATATATATATTAAAATATATATATGTAATATATAATTA TATATTACATATTATGATATATAATATATAATTATATATTATATATTATA TGATATACATATATATTATATGCATATAATATATACATATATTATATGCA TATAATATATACATATATTATATGCATATAATATATACATATATTATATG CATATAATATATAC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	280	0.0036	213	c.126 others(230): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATATGTATATCATATAATATATAATA TATAATTATATATTATATATCATAATATGTAATATATAATTATATATTAC ATATATATATTTTAATATATATATTATATAATATT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(206): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	284	0.0035	213	c.101 others(232): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(206): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	284	0.0035	213	c.101 others(232): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(206): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG03209.hp2 others(1): Show HG02615.hp1 HG02630.hp1 HG03209.hp2 NA18944.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0018 a0001c0001 a0007c0018	a0001c0001t0001 a0007c0018t0001 a0001c0001t0001 a0007c0018t0001	a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0158 others(1): Show a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0158 a0007c0018t0001g0179	4	284	0.0141	213	c.101 others(232): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	977716	A A	ATGTGGTG others(206): Show ATGTGGTGAGGGGTGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTT GGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTC TTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTCTG GTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTT CTGGTCTTTGGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02074.hp1 HG01071.hp2 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0020 a0002c0001t0011 a0002c0001t0020	a0002c0001t0011g0001 a0002c0001t0020g0024 a0002c0001t0011g0001 a0002c0001t0020g0024	2	40	0.0500	213	c.73+ others(230): Show c.73+69755_73+69756insTGAGGGGTGTCGGGGATGCAGTGAGGGG CTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAG GGGCTGGGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGT GAGGGGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGC AGTGAGGGGCTGGGTTCTGGTCTTTGGTGTTGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	977716	A A	ATGTGGTG others(206): Show ATGTGGTGAGGGGTGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTTT GGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTC TTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTG GTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTT CTGGTCTTTGGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	213	c.73+ others(230): Show c.73+69755_73+69756insTGAGGGGTGTCGGGGATGCAGTGAGGTG CTGCGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAG GTGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGT GAGGTGCTGGGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGC AGTGAGGGGCTGGGTTCTGGTCTTTGGTGTTGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78478154	C C	CCATTACC others(206): Show CCATTACCACCATAACATCACCATCATCACCATTATCACCATCATATCAC CACCACCATCACTATCATAACTATCACCACCACCATCATCACCACATCAC CATCACCATCATCACCACCATCACCATTATCACCACCACCATCACCACCA CCACCACCACCATCATTATCTCCACCATCACCACCACGTGGCATCATCAC ATCACCATCATCAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03195.hp1 HG02886.hp2 HG03195.hp1	a0103 a0114 a0103 a0114	a0103c0075 a0114c0146 a0103c0075 a0114c0146	a0103c0075t0001 a0114c0146t0001 a0103c0075t0001 a0114c0146t0001	a0103c0075t0001g0011 a0114c0146t0001g0131 a0103c0075t0001g0011 a0114c0146t0001g0131	2	252	0.0079	213	c.799 others(230): Show c.7992+870_7992+871insATGATGATGGTGATGTGATGATGCCACG TGGTGGTGATGGTGGAGATAATGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGATAATGGTGATGGTGGTGATGATGGTGATGGTGATGTGGTGATG ATGGTGGTGGTGATAGTTATGATAGTGATGGTGGTGGTGATATGATGGTG ATAATGGTGATGATGGTGATGTTATGGTGGTAATG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar
DOCK8_chr9_209865_470255	400151	T T	TCACCACC others(206): Show TCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACC ACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCTCCTCCATCACCACCACCATCTTCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCACC ATCACCACCACCTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0014 a0014	a0014c0058 a0014c0058	a0014c0058t0001 a0014c0058t0001	a0014c0058t0001g0021 a0014c0058t0001g0021	1	256	0.0039	213	c.323 others(230): Show c.3234+899_3234+900insTCCTTCACCATCACCATCACCACCACCT CCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCACCACC ATCTTCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCTCCACCATCACCACCACCTCCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89618921	T T	TCCCCTCC others(206): Show TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	250	0.0040	213	c.-10 others(232): Show c.-107+5205_-107+5206insCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCACTGC others(206): Show CTCACTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01074.hp2 others(8): Show HG00099.hp1 HG00280.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01884.hp2 HG02486.hp1 HG03130.hp1 HG03834.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(8): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0129	11	250	0.0440	213	c.-10 others(232): Show c.-107+5245_-107+5246insTCACTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(206): Show CTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG01952.hp1 others(2): Show HG01074.hp1 HG01123.hp2 HG01952.hp1 HG01975.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 others(2): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0002c0002t0001g0220 a0002c0002t0003g0047	5	250	0.0200	213	c.-10 others(232): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPP6_chr7_154047398_154899285	154063031	C C	CTGACAAA others(206): Show CTGACAAAGCCTTTTCCATTGTATGCGTCAGAGAGAGAAAAGATGGCAGC TGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGTAGCCTACG TCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTTGAGG GCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTCATTCT TGGGCAAAACCTGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0028 a0001c0024t0028	a0001c0024t0028g0003 a0001c0024t0028g0003	1	38	0.0263	213	c.243 others(230): Show c.243+9968_243+9969insTGACAAAGCCTTTTCCATTGTATGCGTC AGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAACTGTGGGGCCCT GGCTGAGGCCGGTAGCCTACGTCTCTAAACAACTAGACAGGGTTGCTAAA GGATGGCCCCCCTATTTGAGGGCCTTGGCAGCAACTGCCCTGCTAGTACA AGAAGCAAATAAGCTCATTCTTGGGCAAAACCTGA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
DPRX_chr19_53626999_53642014	53629722	A A	GGTGGCTC others(206): Show GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGA TGGCTTGAACCCAGGAGTTCTAGGCTGTAATGTGCTCTGCCAATTGGGCA TCCACACTAAGTTCGGCATCAATATGGTGACCTCCCACCAGGTTGCCTAA GAAGTGGGGAAATGGTCTAGGTTGAAAATGGAGCAGGTCAAAATTTTCAT GCTGGCTGGGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	478	0.0042	213	c.-23 others(224): Show c.-2386_-2385insGGTGGCTCACACCTGTAATCCCAGCACTTTGGGA GGCTGAGGCGGGAGGATGGCTTGAACCCAGGAGTTCTAGGCTGTAATGTG CTCTGCCAATTGGGCATCCACACTAAGTTCGGCATCAATATGGTGACCTC CCACCAGGTTGCCTAAGAAGTGGGGAAATGGTCTAGGTTGAAAATGGAGC AGGTCAAAATTTTCATGCTGGCTGGGCAC	DPRX	ENSG00000204595.3	transcript	ENST00000376650.2	protein_coding		2277		chr19	TogoVar
ELL_chr19_18437663_18527070	18442176	C C	CCACACCC others(206): Show CCACACCCTAACACATACCACACCCACACCACACACCCACACACACCACA CCCACCCCAACACACACCACACAACCCACACTGCACACCCCAACACACCA CACCCTCACACCACACACCAACACACACCACACACCAACACACACCACAC CCACACCACATAAACCACACCCACACCCAACACACATACCACATCCACAC ATCCCAACACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02145.hp1 HG02717.hp2 HG01167.hp2 HG02145.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0153	3	244	0.0123	213	c.25 others(224): Show c.2575_*2576insTGGTGTGTTGGGATGTGTGGATGTGGTATGTGTG TTGGGTGTGGGTGTGGTTTATGTGGTGTGGGTGTGGTGTGTGTTGGTGTG TGGTGTGTGTTGGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAG TGTGGGTTGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGT GGTGTGGGTGTGGTATGTGTTAGGGTGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		486		chr19	TogoVar
FANCD2_chr3_10021437_10106932	10070476	G G	GGCCAGCC others(206): Show GGCCAGCCACCCTGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	242	0.0041	213	c.249 others(232): Show c.2495-2388_2495-2387insACCCTGTCCGGGAGGGAGGTGGGGGG CTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCACCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCAGCC	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 10000 hits)