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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TNK2_chr3_195858364_195913551	195881139	G G	GTGCCCCT others(203): Show GTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCGCCCCCAG CGATGCCCCTTGGAGAGGACACAGGATCTGTCCCTCTAACACCCCCCCCA GCAACGCCCCTTGAAGAGGACACGGCATCTATCCCTGTAACACCCCCCCC CCCAGCAATGCCCCTTAGAGAGGACACAGCATCTAACCCTGTAACACCCG CCCCCCAGCAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0023 a0023	a0023c0052 a0023c0052	a0023c0052t0005 a0023c0052t0005	a0023c0052t0005g0198 a0023c0052t0005g0198	1	372	0.0027	210	c.887 others(225): Show c.887+911_887+912insTTGCTGGGGGGCGGGTGTTACAGGGTTAGA TGCTGTGTCCTCTCTAAGGGGCATTGCTGGGGGGGGGGGTGTTACAGGGA TAGATGCCGTGTCCTCTTCAAGGGGCGTTGCTGGGGGGGGTGTTAGAGGG ACAGATCCTGTGTCCTCTCCAAGGGGCATCGCTGGGGGCGGGTGTTACAG GGATAGATGCTGTGTCCTCTCCAAGGGGCA		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15						chr3	TogoVar
TOLLIP_chr11_1269371_1314632	1287382	G G	GCTCCCCG others(203): Show GCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCG CCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCC TCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCC GCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTC CCCGCCGCACC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0099 a0001c0002t0013g0099	1	348	0.0029	210	c.519 others(227): Show c.519+1241_519+1242insGGTGCGGCGGGGAGGCTGCGGCGGGGAG GGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGC GGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGC TGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGG GGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287391	T T	TGCAGCCT others(203): Show TGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0196 a0001c0002t0003g0196	1	348	0.0029	210	c.519 others(227): Show c.519+1232_519+1233insGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287409	G G	GCCTCCCC others(203): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCT CCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	348	0.0029	210	c.519 others(227): Show c.519+1214_519+1215insGTGCGGCGGGGAGGGTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287422	A A	AGCCTCCC others(203): Show AGCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCC CGCCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCGC CCTCCCCGCCGCAGCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCCG CCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCAGCC TCCCCGCCGCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0276	1	348	0.0029	210	c.519 others(227): Show c.519+1201_519+1202insCGCGGCGGGGAGGCTGCGGCGGGGAGGG CGCGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGG GGAGGGCGCGGCGGGGAGGCTGCGGCGGGGAGGGCGCGGCGGGGAGGGCG CGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGGGG AGGGCGCGGCGGGGAGGGCGCGGCGGGGAGGC		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287465	G G	GCCTCCCC others(203): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	348	0.0029	210	c.519 others(227): Show c.519+1158_519+1159insGTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287549	G G	GCCTCCCC others(203): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	348	0.0029	210	c.519 others(227): Show c.519+1074_519+1075insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287605	C C	CCCTCCCC others(203): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	348	0.0029	210	c.519 others(227): Show c.519+1018_519+1019insCTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287633	G G	GCCTCCCC others(203): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0243 a0001c0001t0010g0243	1	348	0.0029	210	c.519 others(225): Show c.519+990_519+991insGTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287703	G G	GCCTCCCC others(203): Show GCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCCCAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0161 a0001c0002t0002g0161	1	348	0.0029	210	c.519 others(225): Show c.519+920_519+921insGTGGGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGGGGCGGGGAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(203): Show CGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAG CCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTG CCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCC TCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCC GCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0316 a0001c0001t0004g0316	1	348	0.0029	210	c.519 others(225): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGC		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAC others(203): Show CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCTGCACCCTCCCCG CCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCTGCC GCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	348	0.0029	210	c.519 others(225): Show c.519+787_519+788insAGAGAGGGTGCGGCAGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCAGCGGGG AGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGCGGGGAGGGTGCGGC		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAG others(203): Show CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCCCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCG CCCCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCC TCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCTGCC GCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	348	0.0029	210	c.519 others(225): Show c.519+787_519+788insAGAGAGGGTGCGGCAGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGG GCGGGGAGGGTGCGGCGGGGAGGCTGCGGC		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TP73_chr1_3647516_3741201	3693748	T T	TCCTCCTC others(203): Show TCCTCCTCCCACAATCCCACCCATGCAGCCTCCGCCCCTCCTCCCGCAAT CCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCC TCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCC GCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCACCCATG CAGCCTCAGCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0038 a0001c0001t0001 a0001c0026t0038	a0001c0001t0001g0211 a0001c0026t0038g0043 a0001c0001t0001g0211 a0001c0026t0038g0043	2	358	0.0056	210	c.186 others(229): Show c.186+10599_186+10600insCGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCC AGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCA GCCCCTCCTCCCACAATCCCACCCATGCAGCCTC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3693767	C C	CCCATGCA others(203): Show CCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAG CTCCTCCTCCCACAATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAA TCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCACAATCCCACCCATGCAGC CTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCC CGCAATCCCAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01069.hp2 others(20): Show HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG02004.hp1 HG02273.hp1 HG02293.hp1 HG03017.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0001t0032 a0001c0001t0051 a0001c0002t0001 a0001c0003t0059	a0001c0001t0002g0067 a0001c0001t0002g0164 a0001c0001t0002g0165 others(20): Show a0001c0001t0002g0067 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0193 a0001c0001t0002g0236 a0001c0001t0002g0303 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0354 a0001c0001t0003g0055 a0001c0001t0004g0098 a0001c0001t0004g0250 a0001c0001t0004g0340 a0001c0001t0004g0355 a0001c0001t0005g0042 a0001c0001t0007g0282 a0001c0001t0021g0249 a0001c0001t0021g0252 a0001c0001t0032g0253 a0001c0001t0051g0071 a0001c0002t0001g0163 a0001c0002t0001g0235 a0001c0003t0059g0121	23	358	0.0643	210	c.186 others(229): Show c.186+10624_186+10625insATGCAGCCTCAGCTCCTCCTCCCACA ATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCA TGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3693991	A A	AGCCCCTC others(203): Show AGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGC AATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCA GCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCT CCCGCAATCCCAGCCATGCAGCCTCCGCCCCTCCTCCCGCAATCCCACCC ATGCAGCCTCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	358	0.0028	210	c.186 others(229): Show c.186+10835_186+10836insCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAG CCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CCGCAATCCCAGCCATGCAGCCTCCGCCCCTCCTCCCGCAATCCCACCCA TGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3693991	A A	AGCCCCTC others(203): Show AGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGC AATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCA GCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCT CCTGCAATCCCAGCCATGCAGCCTCCGCCCCTCCTCCCGCAATCCCACCC ATGCAGCCTCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG01167.hp1 others(8): Show HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG02273.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0046 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0046 a0001c0001t0050	a0001c0001t0002g0173 a0001c0001t0002g0229 a0001c0001t0002g0230 others(8): Show a0001c0001t0002g0173 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0256 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0353 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0046g0113 a0001c0001t0050g0278	11	358	0.0307	210	c.186 others(229): Show c.186+10835_186+10836insCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAG CCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CTGCAATCCCAGCCATGCAGCCTCCGCCCCTCCTCCCGCAATCCCACCCA TGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694086	C C	CTGCAGCC others(203): Show CTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCC CTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCC CAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTC CGCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCCGCCCCTCCTCCCGC AATCCCAGCCA	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA20805.hp1 HG03492.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0323 a0001c0001t0002g0303 a0001c0001t0002g0323	2	358	0.0056	210	c.186 others(229): Show c.186+10910_186+10911insGCCTCAGCCCCTCCTCCCGCAATCCC AGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCA GCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCA ATCCCAGCCATGCAGCCTCCGCCCCTCCTCCCGCAATCCCACCCATGCAG CCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCA		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAF6_chr11_36478769_36515272	36507572	T T	TATACATG others(203): Show TATACATGTATATATGTATATATACGTGTATCTACATGTGTACACATGTA TATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATG TATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACA TGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACA CATGTATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0235 a0001c0001t0009g0235	1	388	0.0026	210	c.-23 others(227): Show c.-23+2475_-23+2476insGTATATACATGTGTACACATGTATACGT ATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTATAC GTATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTAT ACGTATATACATGTGTACACATGTATACGTATATACATGTGTACACATGT AGATACACGTATATATACATATATACATGTAT		TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6						chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909297	A A	AAATATAA others(203): Show AAATATAAATATACAAATATTTGTATATTATATATTTATATAAAATATAA ATATACAAATATTTGTATATTATATATTTATATAAAATATAAATATATAA ATATTTGTATATTATATATTTATATAAAATATAAATATATAAATATTTGT ATATTTATATTTTATATAAAATATAAATATATAAATATTTGTATATTTGT ATTTTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	208	0.0048	210	c.22 others(221): Show c.2289_*2290insATATATAAAATACAAATATACAAATATTTATATA TTTATATTTTATATAAAATATAAATATACAAATATTTATATATTTATATT TTATATAAATATATAATATACAAATATTTATATATTTATATTTTATATAA ATATATAATATACAAATATTTGTATATTTATATTTTATATAAATATATAA TATACAAATATTTGTATATTTATATT		TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding					2111		chr11	TogoVar
TRIO_chr5_14138342_14515204	14403988	C C	CAGGTTGT others(203): Show CAGGTTGTGGTGAGGGTGTAGGTTGTGGTGAGGGTGTAGGTTGTGGTGGT GAGGGTGCAGGTTGTGAGGGTGTAGGTTGTGGTGAGGGTACAGGTGGTGA GGGTGCAGGTTGTGGTGAGGGTGTAGGTTGTGGTGAGGGTGTAGGTTGTG GTGGTGAGGGTGCAGGTTGTGAGGGTGTAGGTTGTGGTGAGGGTACAGGT GGTGAGGGTGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0160 a0001c0013t0001g0160	1	198	0.0051	210	c.471 others(229): Show c.4717-1804_4717-1803insCAGGTTGTGAGGGTGTAGGTTGTGGT GAGGGTACAGGTGGTGAGGGTGCAGGTTGTGGTGAGGGTGTAGGTTGTGG TGAGGGTGTAGGTTGTGGTGGTGAGGGTGCAGGTTGTGAGGGTGTAGGTT GTGGTGAGGGTACAGGTGGTGAGGGTGTAGGTTGTGGTGAGGGTGTAGGT TGTGGTGAGGGTGTAGGTTGTGGTGGTGAGGGTG		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	31/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TTN_chr2_178520989_178812423	178757146	A A	ATGCTTTA others(203): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AACACTGTACTTGCTTTAAGTACAGTAAGTAACACTGTACTTGCTTTAAG TACAGTAAGTAACACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC TTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0073 a0073	a0073c0149 a0073c0149	a0073c0149t0002 a0073c0149t0002	a0073c0149t0002g0085 a0073c0149t0002g0085	1	242	0.0041	210	c.106 others(229): Show c.10679-350_10679-349insAGTACAGTATTACTTACTGTACTTAA AGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTA CTGTACTTAAAGCAAGTACAGTGTTACTTACTGTACTTAAAGCAAGTACA GTGTTACTTACTGTACTTAAAGCAAGTACAGTGTTACTTACTGTACTTAA AGCAAGTACAGTATTACTTACTGTACTTAAAGCA		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362						chr2	TogoVar
TTN_chr2_178520989_178812423	178757146	A A	ATGCTTTA others(203): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC TTGCTTTAAGCACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18980.hp1 NA18948.hp2 NA18980.hp1	a0010 a0172 a0010 a0172	a0010c0013 a0172c0078 a0010c0013 a0172c0078	a0010c0013t0002 a0172c0078t0001 a0010c0013t0002 a0172c0078t0001	a0010c0013t0002g0207 a0172c0078t0001g0208 a0010c0013t0002g0207 a0172c0078t0001g0208	2	242	0.0083	210	c.106 others(229): Show c.10679-350_10679-349insAGTACAGTATTACTTACTGTACTTAA AGCAAGTACAGTATTACTTACTGTGCTTAAAGCAAGTACAGTATTACTTA CTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACA GTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAA AGCAAGTACAGTATTACTTACTGTACTTAAAGCA		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362						chr2	TogoVar
TTN_chr2_178520989_178812423	178757146	A A	ATGCTTTA others(203): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC TTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG01884.hp2 others(6): Show HG00639.hp2 HG01496.hp2 HG01884.hp2 HG02630.hp2 NA18945.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA19070.hp2	a0003 a0005 a0006 others(6): Show a0003 a0005 a0006 a0074 a0088 a0096 a0115 a0167 a0171	a0003c0006 a0005c0005 a0006c0018 others(6): Show a0003c0006 a0005c0005 a0006c0018 a0074c0148 a0088c0128 a0096c0121 a0115c0140 a0167c0070 a0171c0073	a0003c0006t0002 a0005c0005t0001 a0006c0018t0002 others(6): Show a0003c0006t0002 a0005c0005t0001 a0006c0018t0002 a0074c0148t0002 a0088c0128t0001 a0096c0121t0002 a0115c0140t0002 a0167c0070t0001 a0171c0073t0002	a0003c0006t0002g0083 a0005c0005t0001g0228 a0006c0018t0002g0102 others(6): Show a0003c0006t0002g0083 a0005c0005t0001g0228 a0006c0018t0002g0102 a0074c0148t0002g0087 a0088c0128t0001g0229 a0096c0121t0002g0227 a0115c0140t0002g0098 a0167c0070t0001g0199 a0171c0073t0002g0210	9	242	0.0372	210	c.106 others(229): Show c.10679-350_10679-349insAGTACAGTATTACTTACTGTACTTAA AGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTA CTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACA GTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAA AGCAAGTACAGTATTACTTACTGTACTTAAAGCA		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362						chr2	TogoVar
TTN_chr2_178520989_178812423	178757148	G G	GCTTTAAG others(203): Show GCTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAA TACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTA CAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTT ACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAA TACTGTACTTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03927.hp2 HG02257.hp2 HG03927.hp2	a0149 a0159 a0149 a0159	a0149c0104 a0159c0091 a0149c0104 a0159c0091	a0149c0104t0001 a0159c0091t0010 a0149c0104t0001 a0159c0091t0010	a0149c0104t0001g0174 a0159c0091t0010g0175 a0149c0104t0001g0174 a0159c0091t0010g0175	2	242	0.0083	210	c.106 others(229): Show c.10679-352_10679-351insTAAGTACAGTATTACTTACTGTACTT AAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACT TACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTA CAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTT AAAGTAAGTACAGTATTACTTACTGTACTTAAAG		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362						chr2	TogoVar
TTN_chr2_178739405_178812423	178757146	A A	ATGCTTTA others(203): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AACACTGTACTTGCTTTAAGTACAGTAAGTAACACTGTACTTGCTTTAAG TACAGTAAGTAACACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC TTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0125 a0004c0006t0001g0125	1	370	0.0027	210	c.103 others(231): Show c.10303+1837_10303+1838insAGTACAGTATTACTTACTGTACTT AAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACT TACTGTACTTAAAGCAAGTACAGTGTTACTTACTGTACTTAAAGCAAGTA CAGTGTTACTTACTGTACTTAAAGCAAGTACAGTGTTACTTACTGTACTT AAAGCAAGTACAGTATTACTTACTGTACTTAAAGCA		TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45						chr2	TogoVar
TTN_chr2_178739405_178812423	178757146	A A	ATGCTTTA others(203): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC TTGCTTTAAGCACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18980.hp1 NA18948.hp2 NA18980.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0032 a0003c0004t0001g0032	2	370	0.0054	210	c.103 others(231): Show c.10303+1837_10303+1838insAGTACAGTATTACTTACTGTACTT AAAGCAAGTACAGTATTACTTACTGTGCTTAAAGCAAGTACAGTATTACT TACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTA CAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTT AAAGCAAGTACAGTATTACTTACTGTACTTAAAGCA		TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45						chr2	TogoVar
TTN_chr2_178739405_178812423	178757146	A A	ATGCTTTA others(203): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC TTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG01884.hp1 others(13): Show HG00639.hp2 HG01496.hp1 HG01884.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG03239.hp1 HG03239.hp2 HG03688.hp1 NA18945.hp2 NA18949.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA19064.hp2 NA19070.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0032	a0001c0002 a0001c0003 a0001c0015 others(6): Show a0001c0002 a0001c0003 a0001c0015 a0001c0068 a0001c0069 a0003c0004 a0004c0006 a0004c0011 a0032c0093	a0001c0002t0004 a0001c0003t0001 a0001c0003t0004 others(7): Show a0001c0002t0004 a0001c0003t0001 a0001c0003t0004 a0001c0015t0001 a0001c0068t0008 a0001c0069t0001 a0003c0004t0001 a0004c0006t0001 a0004c0011t0001 a0032c0093t0004	a0001c0002t0004g0186 a0001c0003t0001g0046 a0001c0003t0001g0140 others(11): Show a0001c0002t0004g0186 a0001c0003t0001g0046 a0001c0003t0001g0140 a0001c0003t0001g0150 a0001c0003t0004g0013 a0001c0015t0001g0142 a0001c0068t0008g0143 a0001c0069t0001g0127 a0003c0004t0001g0264 a0003c0004t0001g0267 a0003c0004t0001g0279 a0004c0006t0001g0128 a0004c0011t0001g0123 a0032c0093t0004g0109	16	370	0.0432	210	c.103 others(231): Show c.10303+1837_10303+1838insAGTACAGTATTACTTACTGTACTT AAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACT TACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTA CAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTT AAAGCAAGTACAGTATTACTTACTGTACTTAAAGCA		TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45						chr2	TogoVar
TTN_chr2_178739405_178812423	178757148	G G	GCTTTAAG others(203): Show GCTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAA TACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTA CAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTT ACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAA TACTGTACTTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03927.hp1 HG02257.hp1 HG03927.hp1	a0006 a0067 a0006 a0067	a0006c0007 a0067c0053 a0006c0007 a0067c0053	a0006c0007t0005 a0067c0053t0001 a0006c0007t0005 a0067c0053t0001	a0006c0007t0005g0242 a0067c0053t0001g0243 a0006c0007t0005g0242 a0067c0053t0001g0243	2	370	0.0054	210	c.103 others(231): Show c.10303+1835_10303+1836insTAAGTACAGTATTACTTACTGTAC TTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTA CTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAG TACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTAC TTAAAGTAAGTACAGTATTACTTACTGTACTTAAAG		TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45						chr2	TogoVar
UCKL1_chr20_63934829_63961416	63951766	C C	CGCCCAGG others(203): Show CGCCCAGGGCTCAGCAGGGCACAGGGGACACAGCCACCTCCCCGCCCAGG GCTCAGCAGGGCACAGGGGACACAGCCACCTCCCTGCCCAGGGCTCAGCA GGGCACAGGGGACACAGCCACCTCCCCGCCCAGGGCTCAGCAGGGCACAG GGGACACAGCCACCTCCCCGCCCAGGGCTCAGCAGGGCACAGGGGACACA GCCACCTCCCT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18950.hp1 NA18964.hp1 NA18943.hp2 NA18950.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0271 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0001g0271 a0001c0001t0002g0012 a0001c0001t0002g0013	3	356	0.0084	210	c.113 others(227): Show c.113+4493_113+4494insAGGGAGGTGGCTGTGTCCCCTGTGCCCT GCTGAGCCCTGGGCGGGGAGGTGGCTGTGTCCCCTGTGCCCTGCTGAGCC CTGGGCGGGGAGGTGGCTGTGTCCCCTGTGCCCTGCTGAGCCCTGGGCAG GGAGGTGGCTGTGTCCCCTGTGCCCTGCTGAGCCCTGGGCGGGGAGGTGG CTGTGTCCCCTGTGCCCTGCTGAGCCCTGGGC		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14						chr20	TogoVar
UCN3_chr10_5359966_5379692	5370811	G G	GTATATGC others(203): Show GTATATGCGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTAT GTGTGTGTATGCGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGT GTGTATGTGTGTGTGTATATGCGTGTGTATGTGTGTGTGTATGTGTGTGT ATGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTAT ATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0401 a0001c0002t0005g0401	1	468	0.0021	210	c.-6- others(225): Show c.-6-2903_-6-2902insATATGCGTGTGTATATGTGTGTGTATATGT GTGTGTATGTGTGTGTATGTGTGTGTATGCGTGTGTATATGCGTGTGTAT ATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATGT GTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATATGCGT GTGTATATGTGTGTGTATATGTGTGTGTAT		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(203): Show TACATGTTTATATATTTAGTTTATAGATAATATATATTTATATATTTAGT TTATAGATAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 NA18522.hp1 others(1): Show HG02572.hp1 HG02717.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0032 a0001c0001t0015 a0001c0001t0016 a0001c0001t0032	a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0016g0148 others(1): Show a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0016g0148 a0001c0001t0032g0113	4	250	0.0160	210	c.82+ others(225): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAATA TATATTTATATATTTAGTTTATAGATAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(203): Show TTATATATAGTATATATGTAATATATATACTATATATATTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATATA TATACTATATATAGTATATATGTAATATATACTATATATAGTATATATGT AATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(29): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00597.hp2 HG00741.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02132.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG03041.hp2 HG03130.hp2 HG03490.hp1 HG03579.hp1 NA19060.hp2 NA19062.hp1 NA19070.hp1 NA19077.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0035 others(3): Show a0001c0001 a0001c0002 a0001c0035 a0004c0049 a0004c0050 a0007c0054	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0035t0001 a0004c0049t0002 a0004c0050t0002 a0007c0054t0002	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0103 others(29): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0002g0041 a0001c0001t0002g0117 a0001c0001t0002g0126 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0179 a0001c0001t0004g0143 a0001c0001t0016g0099 a0001c0002t0001g0055 a0001c0002t0001g0100 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0003g0142 a0001c0002t0005g0140 a0001c0002t0005g0141 a0001c0002t0005g0144 a0001c0002t0005g0164 a0001c0002t0009g0112 a0001c0035t0001g0185 a0004c0049t0002g0132 a0004c0050t0002g0127 a0007c0054t0002g0123	32	188	0.1702	210	c.458 others(229): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATACTATATATAGTATATATGTAATATATATAC TATATATAGTATATATGTAATATATACTATATATAGTATATATGTAATAT ATATACTATATATAGTATATATGTAATATATATA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(203): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATATA TATACTATATATAGTATATATGTAATATATATATACTATATATAGTATAT ATGTAATATATATACTATATATAGTATATATGTAATATATACTATATATA GTATATATGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02809.hp2 others(2): Show HG01891.hp2 HG02615.hp1 HG02809.hp2 HG02976.hp1 NA19240.hp2	a0001 a0001	a0001c0010 a0001c0012 a0001c0048 a0001c0010 a0001c0012 a0001c0048	a0001c0010t0008 a0001c0012t0001 a0001c0048t0001 a0001c0010t0008 a0001c0012t0001 a0001c0048t0001	a0001c0010t0008g0027 a0001c0010t0008g0028 a0001c0012t0001g0044 others(2): Show a0001c0010t0008g0027 a0001c0010t0008g0028 a0001c0012t0001g0044 a0001c0012t0001g0077 a0001c0048t0001g0046	5	188	0.0266	210	c.458 others(229): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATACTATATATAGTATATATGTAATATATATAT ACTATATATAGTATATATGTAATATATATACTATATATAGTATATATGTA ATATATACTATATATAGTATATATGTAATATATA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(203): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATATA TATATACTATATATAGTATATATGTAATATATATACTATATATAGTATAT ATGTAATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0032 a0001c0004t0001g0032	1	188	0.0053	210	c.458 others(229): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATATACTATATATAGTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATACTATATATAGTATATATGTAAT ATATATACTATATATAGTATATATGTAATATATA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UVSSA_chr4_1342208_1393049	1372767	T T	TCCCTGCA others(203): Show TCCCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCA CTTACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCACTCACCTC CCGCGTCCCTGCACTTACCTCCCGCGTCCCTGCACTCATCTCCTGCTACT CAGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCCCTGCACTC ATCTCCTGCTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0092 a0001c0003t0010g0092	1	400	0.0025	210	c.128 others(229): Show c.1289-2596_1289-2595insCCTGCACTCATCTCCTGCTACTCAGC ACTCACCTCCCGCGTCCCTGCACTTACCTCCCGCGTCCCTGCACTCATCT CCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTTACCTCCCGCGTC CCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACT CACCTCCCGCGTCCCTGCACTCATCTCCTGCTAC		UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
VCX2_chrX_8164944_8176267	8169164	T T	TCCTCTTC others(203): Show TCCTCTTCCTCCCTCCCTCCCCACACACCGCCTCTTCCTCCCTCCCTCCC CACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCC CTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCTCACACACCACCGCTTCCTCCCTCCCTCCCTCC CTCCCCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	210	c.86 others(219): Show c.867_*868insTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTG GTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGCGGTG TGTGGGGAGGGAGGGAGGAAGAGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					779		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533828	C C	CCTGGCTC others(203): Show CCTGGCTCTCCTGACTCAGTGGTTCTTCCATCTCGCTCTCCTGACTCAGT GGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCTTCCATCTCGCTCTC CTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCCTCCA CCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGT GGTTCTTCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19240.hp1 NA19240.hp1	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0001 a0018c0027t0001	a0018c0027t0001g0019 a0018c0027t0001g0019	1	74	0.0135	210	c.477 others(217): Show c.477_478insATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGA ACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCC AGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGT CAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGA ACCACTGAGTCAGGAGAGCCAG	p.Glu others(223): Show p.Glu159_Val160insMetGluGluProLeuSerGlnGluSerGlnVa lGluGluProLeuSerGlnGluSerGluValGluGluProLeuSerGlnG luSerGlnValGluGluProLeuSerGlnGluSerGluMetGluGluPro LeuSerGlnGluSerGlnValGluGluProLeuSerGlnGluSerGluMe tGluGluProLeuSerGlnGluSerGln	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding	3/3	784/995	477/561	159/186			chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237115	G G	GGGAGAGG others(203): Show GGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGACAGA CAGAGACAGAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	328	0.0031	210	c.375 others(223): Show c.375-72_375-71insGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAG GGAGAGGGAGAGACAGACAGAGACAGAC		VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6						chr11	TogoVar
VMO1_chr17_4780285_4791364	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCGGCAAATGCAACGCG TCCAACACGGGTCCCACCACCATCCCCCTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	210	c.-43 others(221): Show c.-4382_-4381insTTTAATAAACATACATTATGGAGCTGAGCACCTG CTTGGTGTGAGGCATGACGCACATGCGCTTGGGTAGCTGAAGGGTGAGGG TGCCATTTATTCACAGAGACAGGGAACACAGGAGGAGGTGTAGTTCTTAG GGGGATGGTGGTGGGACCCGTGTTGGACGCGTTGCATTTGCCGCGTCTGT GGAGTGTGCAGGATGCTTGCTGTATA		VMO1	ENSG00000182853.12	transcript	ENST00000328739.6	protein_coding					4370		chr17	TogoVar
VMO1_chr17_4780285_4791364	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCTGCAAATGCAACGCG TCCAACACGGGTCCCACCACCATCCCCCTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(430): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0002c0002t0001g0002 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0002g0006 a0002c0002t0003g0008 a0003c0003t0001g0003 a0004c0004t0001g0009	433	444	0.9752	210	c.-43 others(221): Show c.-4382_-4381insTTTAATAAACATACATTATGGAGCTGAGCACCTG CTTGGTGTGAGGCATGACGCACATGCGCTTGGGTAGCTGAAGGGTGAGGG TGCCATTTATTCACAGAGACAGGGAACACAGGAGGAGGTGTAGTTCTTAG GGGGATGGTGGTGGGACCCGTGTTGGACGCGTTGCATTTGCAGCGTCTGT GGAGTGTGCAGGATGCTTGCTGTATA		VMO1	ENSG00000182853.12	transcript	ENST00000328739.6	protein_coding					4370		chr17	TogoVar
VMO1_chr17_4780285_4791364	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCTGCAAATGCAACGCG TCCAACACGGGTCCCACCACCATCCCCGTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01074.hp2 others(3): Show HG00733.hp2 HG01070.hp1 HG01074.hp2 HG01257.hp1 HG02523.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	444	0.0135	210	c.-43 others(221): Show c.-4382_-4381insTTTAATAAACATACATTATGGAGCTGAGCACCTG CTTGGTGTGAGGCATGACGCACATGCGCTTGGGTAGCTGAAGGGTGAGGG TGCCATTTATTCACAGAGACAGGGAACACAGGAGGAGGTGTAGTTCTTAC GGGGATGGTGGTGGGACCCGTGTTGGACGCGTTGCATTTGCAGCGTCTGT GGAGTGTGCAGGATGCTTGCTGTATA		VMO1	ENSG00000182853.12	transcript	ENST00000328739.6	protein_coding					4370		chr17	TogoVar
VMO1_chr17_4780285_4791364	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCTGCAAATGCAACGCG TCCAACATGGGTCCCACCACCATCCCCCTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 NA19240.hp2 HG01358.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	444	0.0045	210	c.-43 others(221): Show c.-4382_-4381insTTTAATAAACATACATTATGGAGCTGAGCACCTG CTTGGTGTGAGGCATGACGCACATGCGCTTGGGTAGCTGAAGGGTGAGGG TGCCATTTATTCACAGAGACAGGGAACACAGGAGGAGGTGTAGTTCTTAG GGGGATGGTGGTGGGACCCATGTTGGACGCGTTGCATTTGCAGCGTCTGT GGAGTGTGCAGGATGCTTGCTGTATA		VMO1	ENSG00000182853.12	transcript	ENST00000328739.6	protein_coding					4370		chr17	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(203): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT CCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0025 a0003c0005t0001g0025	1	274	0.0037	210	c.200 others(227): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCC TCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCC		VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47					INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCCCT others(203): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCCCTCTCCTCCCCCCTCCTCCTCCCCCCC CTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	274	0.0037	210	c.200 others(227): Show c.2004+710_2004+711insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCTCCTCCCCC CTCCTCCTCCCCCCCCTCCTCCTCCTCCCCCC		VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47					INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(203): Show ATCATATATATATCATATATCATATATATCATATATGATACATATATATA TGATACATGTATCATATATGATACATGTATCATATATGATACATATATAT CATATATATGATACATATATATCATATATATGATACATATATATCATATA TATGATACATATATATCATATATATGATACATATATATCTCATATATGAT ACATATATATC	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18978.hp2 HG02886.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0277 a0001c0001t0001g0050 a0001c0001t0001g0277	2	340	0.0059	210	c.856 others(227): Show c.856+1989_856+1990insATATCATATATCATATATATCATATATG ATACATATATATATGATACATGTATCATATATGATACATGTATCATATAT GATACATATATATCATATATATGATACATATATATCATATATATGATACA TATATATCATATATATGATACATATATATCATATATATGATACATATATA TCTCATATATGATACATATATATCTCATATAT		VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR87_chr19_37879823_37911594	37881068	A A	ATATATAT others(203): Show ATATATATAATATATATATATTATATATATATAATATATATAATATATAT ATTATATATATATAATATATATATTATATATATATATAATATATATAATA TATATATATTATATATATTATATATATATTATATATATAATATATATATT TAATATATATATTATATATATAATATATATTTAATATATAATATATATAT AATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0019 a0013c0014t0001g0019	1	330	0.0030	210	c.38 others(221): Show c.3863_*3864insATATATATATTATATATATATTATATATTAAATA TATATTATATATATAATATATATATTAAATATATATATTATATATATAAT ATATATATAATATATATAATATATATATATTATATATATTATATATATAT ATAATATATATATTATATATATATAATATATATATTATATATATTATATA TATATAATATATATATATTATATATA		WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding					3754		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(203): Show TAATATATATATAATATATATATATTATATATATATAATATATATATTAT ATATATATAATATATATATATATTATATATATAATATATATATAATATAT ATATAATATATATATAATATATATATATATTATATATATATTATATATAT AATATATATATATTTTATATATATATTATATATATATATATATAGAGAGA GAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	330	0.0030	210	c.37 others(221): Show c.3793_*3794insCTCTCTCTCTCTCTCTCTATATATATATATATAT AATATATATATAAAATATATATATATTATATATATAATATATATATAATA TATATATATATTATATATATATTATATATATATTATATATATATTATATA TATAATATATATATATATTATATATATATAATATATATATTATATATATA TAATATATATATATTATATATATATT		WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding					3684		chr19	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(203): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAAATTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	388	0.0026	210	c.-24 others(227): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA AATTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAAT		ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(203): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG02809.hp2 others(6): Show HG02486.hp2 HG02723.hp1 HG02809.hp2 HG02965.hp2 HG03195.hp1 HG03471.hp2 HG03540.hp2 NA18955.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0007 a0001c0001 a0001c0006 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0006t0003 a0003c0007t0001	a0001c0001t0001g0204 a0001c0001t0003g0019 a0001c0001t0003g0320 others(6): Show a0001c0001t0001g0204 a0001c0001t0003g0019 a0001c0001t0003g0320 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0011g0344 a0001c0001t0011g0354 a0001c0006t0003g0019 a0003c0007t0001g0107	9	388	0.0232	210	c.-24 others(227): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAAT		ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr9	TogoVar

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Search Results (Total: 10000 hits)