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
PCGF3_chr4_700832_775089	745467	TCCGTGGA others(278): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	366	0.0027	-285	c.462 others(16): Show c.462+833_462+1117del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746065	GCCCCGGG others(278): Show GCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	366	0.0027	-285	c.462 others(17): Show c.462+1381_462+1665del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746069	CGGGGTCG others(278): Show CGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0341 a0001c0001t0018g0341	1	366	0.0027	-285	c.462 others(17): Show c.462+1406_462+1690del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746691	CCCGGGGG others(278): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0360 a0001c0001t0004g0360	1	366	0.0027	-285	c.462 others(17): Show c.462+2006_462+2290del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747286	CTCGCCGT others(278): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02559.hp1 others(4): Show HG02055.hp1 HG02280.hp2 HG02559.hp1 HG02818.hp1 HG02896.hp1 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0025 others(2): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0025 a0001c0001t0026 a0001c0001t0061	a0001c0001t0004g0259 a0001c0001t0012g0260 a0001c0001t0012g0290 others(4): Show a0001c0001t0004g0259 a0001c0001t0012g0260 a0001c0001t0012g0290 a0001c0001t0025g0115 a0001c0001t0026g0113 a0001c0001t0026g0114 a0001c0001t0061g0006	7	366	0.0191	-285	c.462 others(17): Show c.462+2658_462+2942del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PERM1_chr1_970198_987093	977126	CACCAACC others(278): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGC CCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCC CCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0111 a0001c0001t0001g0103 a0001c0001t0002g0111	2	408	0.0049	-285	c.215 others(17): Show c.2150-787_2150-503del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX5_chr12_7184686_7216459	7196762	ATAATTAT others(278): Show ATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATAATG TAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATAT AATGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCAC ATATAATGTAATAATTATATGTCACATATAATGTAATAATTATATGTCAC ATATAATGTAATAATTATATATGTCACATATAATGTAATAATTATATATG TCACATATAATGTAATTATATATGTCACATATAATG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	428	0.0023	-285	c.449 others(17): Show c.449-2220_449-1936del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHN1_chr1_961482_980865	977126	CACCAACC others(278): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGC CCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCC CCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA18906.hp2 HG03453.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0019 a0001c0001 a0003c0019	a0001c0001t0022 a0003c0019t0001 a0001c0001t0022 a0003c0019t0001	a0001c0001t0022g0165 a0003c0019t0001g0035 a0001c0001t0022g0165 a0003c0019t0001g0035	2	422	0.0047	-285	c.25 others(11): Show c.2552_*2836del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1262		chr1	TogoVar
PNLIPRP3_chr10_116422847_116482957	116433604	TTGACTCT others(278): Show TTGACTCTCCATCCCTTTAAGACCATTATACACATTCATCTTTGACCACA TGACATGGAAGAGAGTATTCTAAGTCTAGACACCTTTAAGAGCCTTTGCA TGGTTCCACAGTTGCATCATTTTCCTTTGCCCCAACAGACACAGGCTCAA AACAGAGCCTACTCATTTAGCTTGGATCCTGCAATGCAGAAGGCTGGTAA ATCAGAGCTAGGCCCAACCTAAAACCACTGCAGCCAAAGGATAACATGAG CAAGAAATAAACCTTAATTTTTGTAAGCCAGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA21309.hp2 HG02886.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0266 a0001c0013t0002g0216 a0001c0001t0002g0266 a0001c0013t0002g0216	2	288	0.0069	-285	c.50- others(15): Show c.50-3104_50-2820del	PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCA_chr17_66297613_66815743	66798453	CGGTGGTG others(278): Show CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTG GTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0062 a0001c0001t0056g0062	1	178	0.0056	-285	c.185 others(19): Show c.1855-5385_1855-5101del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799260	TGGTGGTG others(278): Show TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	178	0.0056	-285	c.185 others(19): Show c.1855-4575_1855-4291del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASGEF1C_chr5_180095795_180214211	180113323	CCGGGGAT others(278): Show CCGGGGATGGACGGAGGGACCGGGGATGGACTGAGGGATCCGGGATGGAC GGAGGGACCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGATCGGG GATGGATGGAGGGATCCGGGATGGACGGAGGGACCGGGGATGGACGGAGT GACCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGATCGGGGATGG ACGGAGGGACCGGGGATGGACGGAGGGATCCGGGATGGACGGAGGGACCG GGGATGGACGGAGGGATCGGGGATGGACGGAGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0111 a0001c0002t0072g0111	1	370	0.0027	-285	c.117 others(18): Show c.1179+838_1179+1122del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RTEL1_chr20_63653312_63701245	63670157	GCCAAGAT others(278): Show GCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAG ACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATC CGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGA GAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACC ACTGGGAGAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCA GTTAACCACTGGGAGAGCATCCGGACAGACGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01106.hp2 others(4): Show HG01074.hp2 HG01106.hp1 HG01106.hp2 HG02280.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0018 a0006c0009 a0001c0001 a0005c0018 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0005c0018t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0005c0018t0002 a0006c0009t0002	a0001c0001t0001g0045 a0001c0001t0002g0016 a0001c0001t0002g0019 others(4): Show a0001c0001t0001g0045 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0005c0018t0002g0018 a0006c0009t0002g0017	7	60	0.1167	-285	c.700 others(17): Show c.700-2393_700-2109del	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
SIPA1L2_chr1_232392965_232635133	232563997	GATGGAGT others(278): Show GATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTT GGCTCGCTGCAACTTCTTACAGGCATCAGCCACTGCTCCTGGCCAAGGAA GGTTTCATCATGTTGGCCAGACTGAACGACGAAGGTTGTTTTTTTTTTTT TTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCATCA TGTTGGCCAGACTGAACGACAAAGGTTTTTTTTTTTTTCGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	292	0.0034	-285	c.-27 others(20): Show c.-270+9892_-270+10176del	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SLC6A12_chr12_185081_219157	216066	TCTGGAGG others(278): Show TCTGGAGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTCT CCTAGCCTCCAAGACCCACTTGGTATTCAGACCAGTTAGTAAACTTCTGG AGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTCTCCTAG CCTCCAAGACCCACTTGGTATTCAGACTGGTTAGTAAACTTCTGGAGGCC AGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTCTCCTAGCCTCC AAGACCCACTTGGTGTTCAGACCGGTTAGTAAACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01071.hp2 others(7): Show HG00280.hp2 HG01070.hp1 HG01071.hp2 HG01243.hp2 HG01358.hp2 HG02258.hp1 HG02559.hp1 HG02602.hp2 HG03139.hp1 HG03209.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0002c0005 others(1): Show a0002c0002 a0002c0003 a0002c0005 a0003c0008	a0002c0002t0002 a0002c0003t0001 a0002c0003t0012 others(3): Show a0002c0002t0002 a0002c0003t0001 a0002c0003t0012 a0002c0005t0002 a0002c0005t0029 a0003c0008t0005	a0002c0002t0002g0375 a0002c0003t0001g0373 a0002c0003t0001g0374 others(7): Show a0002c0002t0002g0375 a0002c0003t0001g0373 a0002c0003t0001g0374 a0002c0003t0012g0324 a0002c0003t0012g0371 a0002c0003t0012g0372 a0002c0005t0002g0370 a0002c0005t0029g0393 a0003c0008t0005g0368 a0003c0008t0005g0369	10	420	0.0238	-285	c.-25 others(11): Show c.-2572_-2288del	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding		1910		chr12	TogoVar
SLC6A13_chr12_215622_267836	216066	TCTGGAGG others(278): Show TCTGGAGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTCT CCTAGCCTCCAAGACCCACTTGGTATTCAGACCAGTTAGTAAACTTCTGG AGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTCTCCTAG CCTCCAAGACCCACTTGGTATTCAGACTGGTTAGTAAACTTCTGGAGGCC AGAGACTCTCTAATGTTGAGCCCTTCCTCACTCAAGTTCTCCTAGCCTCC AAGACCCACTTGGTGTTCAGACCGGTTAGTAAACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01071.hp2 others(8): Show HG00280.hp2 HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp2 HG02258.hp1 HG02559.hp2 HG02602.hp2 HG03139.hp2 HG03209.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0122 a0001c0001t0001g0123 others(7): Show a0001c0001t0001g0026 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0316 a0003c0004t0001g0283	11	442	0.0249	-285	c.45 others(11): Show c.4597_*4881del	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding		4555		chr12	TogoVar
SLC6A3_chr5_1387794_1450440	1393614	CGCTCCTG others(278): Show CGCTCCTGTGGGGGCCCTGCATGCATCCTGGGGTAGTACACGCTCCTGTG GGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCTGTGGGGGCCCTGC ATGCGTCCGGTCCGGGGATAGGACACGCTCCTGTGGGGGCCCTGCATGCG TCCTGGGGTAGTACACGCTCCAGTGGGGGCCCTGCATGCGTCCTGGGGTA GTACACGCTCCTGTGGGGGCCCTGCATGCGTTCTGGGGTAGTACACGCTC CTGTGGGGGCCCTGCATGCGTCCAGGGATAGGACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02970.hp2 HG03195.hp2 HG02572.hp2 HG02970.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0018 a0001c0005t0018 a0001c0001t0018 a0001c0005t0018	a0001c0001t0018g0146 a0001c0001t0018g0260 a0001c0005t0018g0030 a0001c0001t0018g0146 a0001c0001t0018g0260 a0001c0005t0018g0030	3	373	0.0080	-285	c.83 others(10): Show c.836_*1120del	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	15/15	836		chr5	TogoVar
SNTG2_chr2_945849_1372613	1222662	CCTGCTGG others(278): Show CCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATG GAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAG AGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTG GAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCT CCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGG TGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp2 HG03225.hp1 others(1): Show HG02647.hp2 HG03209.hp2 HG03225.hp1 NA19030.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0004c0014 a0006c0010 a0004c0004 a0004c0014 a0006c0010	a0004c0004t0001 a0004c0004t0002 a0004c0014t0002 others(1): Show a0004c0004t0001 a0004c0004t0002 a0004c0014t0002 a0006c0010t0001	a0004c0004t0001g0149 a0004c0004t0002g0074 a0004c0014t0002g0001 others(1): Show a0004c0004t0001g0149 a0004c0004t0002g0074 a0004c0014t0002g0001 a0006c0010t0001g0043	4	190	0.0211	-285	c.719 others(19): Show c.719+13433_719+13717del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415140	ATGTATAT others(278): Show ATGTATATACACACATATAGTGTGTATATAGTATGTATATACACACATAT AGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTATGT ATATACACACATATAGTGTGTATATAGTATGTATATACACACATATAGTG TGTATATAGTATGTATATACACACATATAGTGTGTATATAGTATGTATAT ACACACATATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTA TATAGTATGTATATACACACATATAGTGTGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(53): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01255.hp1 HG01943.hp2 HG02027.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02683.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03486.hp1 HG03516.hp1 HG03704.hp1 HG04199.hp1 HG06807.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp2 NA18986.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19030.hp1 NA19056.hp1 NA19074.hp1 NA19077.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0004 a0002c0010 others(1): Show a0002c0002 a0002c0004 a0002c0010 a0008c0009	a0002c0002t0001 a0002c0002t0005 a0002c0004t0001 others(2): Show a0002c0002t0001 a0002c0002t0005 a0002c0004t0001 a0002c0010t0001 a0008c0009t0001	a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0239 a0002c0002t0001g0262 a0002c0002t0001g0324 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0346 a0002c0002t0005g0022 a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0113 a0002c0004t0001g0115 a0002c0004t0001g0213 a0002c0004t0001g0214 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0217 a0002c0004t0001g0228 a0002c0004t0001g0232 a0002c0004t0001g0251 a0002c0010t0001g0177 a0008c0009t0001g0108	56	358	0.1564	-285	c.233 others(19): Show c.2334-2132_2334-1848del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
TARS3_chr15_101648596_101729473	101655164	CTGACTCC others(278): Show CTGACTCCACCTGGCACTAGGGCGCAAATGAGAGCGGGGAGCTCTTACAG GCTCACACTGACCCCACCTGGCACTAGGGTGCAAATGAGAGGGGGGAGCT CTTACAGGCTCACAGTGACTCCACCTGGCACTAGGGCGCAGATGAGAGGG GGGAGCTCTTACAGGCTCACACTGACCCCACCTGGCACTAGGGTGCAAAT GAGAGGGGGGAGCTCTTACAGGCTCACAGTGACTCCACCTGGCACTAGGG CGCAAATGAGAGCGGGGAGCTCTTACAGGCTCACAG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp1 HG01175.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0239 a0003c0003t0004g0240 a0003c0003t0004g0239 a0003c0003t0004g0240	2	278	0.0072	-285	c.226 others(17): Show c.2261-719_2261-435del	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	18/18			chr15	TogoVar
THEG_chr19_356747_381026	376815	CCCCCTCC others(278): Show CCCCCTCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCC AGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0258 a0001c0001t0046g0258	1	370	0.0027	-285	c.-11 others(10): Show c.-1130_-846del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		790		chr19	TogoVar
THOP1_chr19_2780503_2820807	2818264	CAAGGGTG others(278): Show CAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAG CAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGA CAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAG CAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 NA18522.hp2 NA18950.hp1 HG03669.hp1 NA18522.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0030 a0001c0001t0002 a0001c0001t0007 a0001c0001t0030	a0001c0001t0002g0002 a0001c0001t0007g0219 a0001c0001t0030g0187 a0001c0001t0002g0002 a0001c0001t0007g0219 a0001c0001t0030g0187	3	370	0.0081	-285	c.49 others(11): Show c.4989_*5273del	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2458		chr19	TogoVar
TM2D3_chr15_101636848_101657381	101655164	CTGACTCC others(278): Show CTGACTCCACCTGGCACTAGGGCGCAAATGAGAGCGGGGAGCTCTTACAG GCTCACACTGACCCCACCTGGCACTAGGGTGCAAATGAGAGGGGGGAGCT CTTACAGGCTCACAGTGACTCCACCTGGCACTAGGGCGCAGATGAGAGGG GGGAGCTCTTACAGGCTCACACTGACCCCACCTGGCACTAGGGTGCAAAT GAGAGGGGGGAGCTCTTACAGGCTCACAGTGACTCCACCTGGCACTAGGG CGCAAATGAGAGCGGGGAGCTCTTACAGGCTCACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02055.hp1 HG01175.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0050 a0001c0001t0001g0057	2	422	0.0047	-285	c.-30 others(11): Show c.-3088_-2804del	TM2D3	ENSG00000184277.13	transcript	ENST00000333202.8	protein_coding		2784		chr15	TogoVar
TMCO3_chr13_113486021_113555229	113541859	ATCGCTGA others(278): Show ATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATAC GCACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGG ATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCCGAGA TGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTACC GCCGAGATGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTT TATTACCGCCGAGATGTGTGGATGATACGCACACGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(59): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG00621.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02615.hp1 HG02698.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18987.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19066.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0002c0004 a0002c0019 others(1): Show a0002c0003 a0002c0004 a0002c0019 a0011c0020	a0002c0003t0003 a0002c0004t0005 a0002c0019t0003 others(1): Show a0002c0003t0003 a0002c0004t0005 a0002c0019t0003 a0011c0020t0003	a0002c0003t0003g0005 a0002c0003t0003g0020 a0002c0003t0003g0255 others(56): Show a0002c0003t0003g0005 a0002c0003t0003g0020 a0002c0003t0003g0255 a0002c0003t0003g0256 a0002c0003t0003g0257 a0002c0003t0003g0258 a0002c0003t0003g0259 a0002c0003t0003g0260 a0002c0003t0003g0261 a0002c0003t0003g0262 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0003g0265 a0002c0003t0003g0266 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0275 a0002c0003t0003g0276 a0002c0003t0003g0277 a0002c0003t0003g0278 a0002c0003t0003g0279 a0002c0003t0003g0281 a0002c0003t0003g0282 a0002c0003t0003g0283 a0002c0003t0003g0284 a0002c0003t0003g0285 a0002c0003t0003g0286 a0002c0003t0003g0288 a0002c0003t0003g0289 a0002c0003t0003g0290 a0002c0003t0003g0291 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0295 a0002c0003t0003g0296 a0002c0003t0003g0297 a0002c0003t0003g0298 a0002c0003t0003g0299 a0002c0003t0003g0300 a0002c0004t0005g0317 a0002c0004t0005g0318 a0002c0004t0005g0319 a0002c0004t0005g0320 a0002c0004t0005g0321 a0002c0004t0005g0322 a0002c0004t0005g0323 a0002c0004t0005g0324 a0002c0004t0005g0325 a0002c0004t0005g0326 a0002c0004t0005g0327 a0002c0004t0005g0328 a0002c0019t0003g0287 a0011c0020t0003g0005	62	368	0.1685	-285	c.169 others(19): Show c.1690+2409_1690+2693del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113541916	ATCGCTGA others(278): Show ATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATAC GCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGG ATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCCGAGA TGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTACC GCCGAGATGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTT TATTACCGCCGAGATGTGTGGATGATACGCACACGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0048 a0003c0002t0002g0048	1	368	0.0027	-285	c.169 others(19): Show c.1690+2622_1690+2906del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM184B_chr22_38214291_38278010	38229646	TCAGCCCA others(278): Show TCAGCCCAGGAAGCTAGAGTGGCTGGATTGCCAAGGCTACTCTAGACCAC AGGGAGGCCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCT AGACCACAGGGAGGTCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGG CTACTCTAGACCACAGGGAGGTCAGCCCAGGAAGCTAGAGCGGCTGGATT GCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCCAGGAAGCTAGAGCGG CTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01071.hp2 others(26): Show HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02602.hp1 HG02738.hp2 HG02809.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG04184.hp1 HG06807.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp1 NA18962.hp1 NA18974.hp2 NA19066.hp2 NA19074.hp1 NA19083.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0099 others(23): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0214 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0001g0315 a0001c0001t0003g0006 a0001c0001t0003g0086 a0001c0001t0005g0177	29	354	0.0819	-285	c.525 others(16): Show c.525+738_525+1022del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8			chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291843	TCCGTGTC others(278): Show TCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGT GTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCC CTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCT CCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	284	0.0035	-285	c.121 others(17): Show c.1214+371_1214+655del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZDHHC11B_chr5_705355_789729	711456	TGCTGTAT others(278): Show TGCTGTATACTCCTATTTCCCAGTGCCATGTGCTTCCATTTCCCAGTACT GTGCTCATATTTCCCAGTACTGTGCTCCCATTTCCCAAAACTGTGCTCTC ATTTCCTAGCACTGTGCTCCCATTTCCCAGTACTGTGCTCCCATTTCCCA GTGCCGTGCTCCCATTTCCCAGTGCTGTATACTCCTATCTCCCAGTGCTG TTTGCTCCCATTTCCCAGTACTGTGCTCCTATTCCCCAGTACTCTGTGCT CCCATTTCCCAGTACTTTGTGCTCCCATTTCCCAGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0051 a0005c0018t0051	a0005c0018t0051g0164 a0005c0018t0051g0164	1	271	0.0037	-285	c.54 others(9): Show c.549_*833del	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	14/14	5067		chr5	TogoVar
ZNF516_chr18_76352682_76500242	76393179	GGGGGCAG others(278): Show GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	346	0.0029	-285	c.181 others(21): Show c.1811-13161_1811-12877del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF554_chr19_2814868_2841735	2818264	CAAGGGTG others(278): Show CAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAG CAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGA CAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAG CAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG03669.hp1 NA18522.hp1 others(2): Show HG02129.hp1 HG03669.hp1 NA18522.hp1 NA18950.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0013 a0002c0005 a0001c0004 a0001c0013 a0002c0005	a0001c0004t0003 a0001c0013t0023 a0002c0005t0004 a0001c0004t0003 a0001c0013t0023 a0002c0005t0004	a0001c0004t0003g0201 a0001c0004t0003g0318 a0001c0013t0023g0047 others(2): Show a0001c0004t0003g0201 a0001c0004t0003g0318 a0001c0013t0023g0047 a0002c0005t0004g0281 a0002c0005t0004g0311	5	410	0.0122	-285	c.-18 others(11): Show c.-1807_-1523del	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1603		chr19	TogoVar
ATP10A_chr15_25673712_25868327	25758221	CCTAACTC others(277): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGATCCACCCTAACTCAT TCCAATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0269 a0004c0004t0001g0269	1	300	0.0033	-284	c.655 others(19): Show c.655-22364_655-22081del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
BRSK2_chr11_1384934_1467689	1432080	TCAGCAGT others(277): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	360	0.0028	-284	c.92- others(15): Show c.92-3796_92-3513del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C19orf12_chr19_29693937_29720261	29719450	ATAATATA others(277): Show ATAATATACATATTTATATATATATTATATATATTTATATATATATTATA TTTATATATATTTATATATATTATATATATATTATATATATAATATATAA ATATATTTATATAATATAAATATATATATTTATATAATATAAATATATAT ATTTATATATATATAAAATATATATAATATATAAGTTTGGACAAAGATAT AGAATTATATAATATATAAGTTTGGACAAAGATATAGAATTATATAATAT ATAATATAATATATCAGTATATATAATTGTACTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0049 a0001c0001t0026g0049	1	418	0.0024	-284	c.-46 others(11): Show c.-4620_-4337del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4190		chr19	TogoVar
C7orf50_chr7_992006_1143247	1128641	CGTCACCC others(277): Show CGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0291 a0001c0001t0012g0291	1	326	0.0031	-284	c.-1- others(15): Show c.-1-1539_-1-1256del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82326609	CTCCGAAA others(277): Show CTCCGAAAACTTTCACTCTTCTCCATCTAAGTAACCAGCTCATTGACTCA TGCCTCTACCTTGTTTTTACCCAGAACACTTAACTTCTTAAATTTCTGTC CCTTACCACAACTTCTTGTTTCTCCACTGTTCCTTACAAACTTACACTTT ATCCACATAAAAATGTCTACTACTTACTTGAACTCTTATTTCTTGACCAT TATCAGATCCTATCTAACGTGATTCCTGGTTTCAAATACTTCAACTACCA TTGACTATTCTCAAATATCCTTGATGTTTACAAAG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp1 others(16): Show HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01261.hp2 HG01975.hp2 HG02572.hp1 HG02683.hp1 HG02738.hp1 HG02886.hp1 HG02922.hp1 HG03239.hp1 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp2 NA18968.hp2 NA19060.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0007t0003	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0035 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0129 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0031 a0001c0001t0005g0096 a0001c0001t0005g0111 a0001c0001t0005g0139 a0001c0001t0006g0118 a0001c0001t0006g0142 a0001c0001t0007g0059 a0001c0002t0001g0030 a0001c0002t0001g0055 a0001c0002t0002g0095 a0001c0002t0010g0092 a0001c0007t0003g0075	19	144	0.1319	-284	c.294 others(17): Show c.294+8242_294+8525del	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CDK12_chr17_39456486_39539544	39498924	TTTCTTTC others(277): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG01106.hp2 others(20): Show HG00099.hp1 HG00621.hp1 HG01106.hp2 HG01123.hp1 HG01496.hp2 HG01928.hp1 HG02004.hp2 HG02015.hp2 HG02080.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 NA18522.hp1 NA18959.hp1 NA18983.hp2 NA18993.hp1 NA18995.hp2 NA19054.hp1 NA19060.hp1 NA19064.hp1 NA19079.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0053 a0001c0001t0001 a0001c0001t0022 a0001c0001t0053	a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0001g0144 others(20): Show a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0022g0162 a0001c0001t0053g0134	23	260	0.0885	-284	c.242 others(19): Show c.2420-2323_2420-2040del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39498927	CTTTCTTT others(277): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	260	0.0039	-284	c.242 others(19): Show c.2420-2319_2420-2036del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHCHD6_chr3_126699240_126965420	126862785	CACCATCA others(277): Show CACCATCACCACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCA CCATCACCACCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACT ACCTCCTCCTCCTCCACCATCACCACCTCCTCCTCCTCCACCATCACCAC CTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCACCATCACCACCT CCTCCTCCACCATCACCACCTCCTCCTCCACCATCACTACCTCCTCCTCC TCCACCATCACCACCTCCTCCTCCTCCTCCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	216	0.0046	-284	c.495 others(19): Show c.495+10056_495+10339del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHRM3_chr1_239381568_239920450	239641832	CGTTAGTT others(277): Show CGTTAGTTGATGCAGTTTCTTCCTAGTCTTGATGGTCTTTACAATTTGGC GTGATTTTGCAGTGGCTGGTACCGGTTGTTCCTTTCCGTGTTTAGTGCTT CCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGC ATTTGCTTGTCTGTAAAGAATTTTATTTCTCCTCCACTTATGAAGCTTAG TTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGT TGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01109.hp2 others(35): Show HG00438.hp2 HG00639.hp1 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01981.hp2 HG02109.hp1 HG02258.hp2 HG02615.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19012.hp2 NA19068.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0005 a0003c0004 others(1): Show a0001c0001 a0001c0005 a0003c0004 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0030 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0046 a0001c0001t0050 a0001c0001t0058 a0001c0001t0060 a0001c0005t0048 a0003c0004t0041 a0004c0003t0053	a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0056 others(35): Show a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0002g0059 a0001c0001t0003g0066 a0001c0001t0003g0092 a0001c0001t0003g0115 a0001c0001t0004g0016 a0001c0001t0004g0035 a0001c0001t0006g0065 a0001c0001t0007g0068 a0001c0001t0008g0067 a0001c0001t0008g0082 a0001c0001t0009g0045 a0001c0001t0009g0111 a0001c0001t0010g0103 a0001c0001t0011g0071 a0001c0001t0011g0087 a0001c0001t0015g0033 a0001c0001t0015g0063 a0001c0001t0018g0022 a0001c0001t0018g0042 a0001c0001t0019g0040 a0001c0001t0021g0093 a0001c0001t0023g0007 a0001c0001t0026g0091 a0001c0001t0030g0023 a0001c0001t0038g0032 a0001c0001t0039g0112 a0001c0001t0040g0102 a0001c0001t0046g0100 a0001c0001t0050g0015 a0001c0001t0058g0011 a0001c0001t0060g0001 a0001c0005t0048g0081 a0003c0004t0041g0043 a0004c0003t0053g0099	38	116	0.3276	-284	c.-25 others(19): Show c.-250+9550_-250+9833del	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTDP1_chr18_79674803_79759503	79694123	GGGTGGTC others(277): Show GGGTGGTCGGAGCAGCCCGGCTGGGACGGGAGTGTGGGGGCTGTGAGCAC CTAGGGGCGGGTGCTGAGTGCTGGGCGGCCTCATGTCTGCAGGGCAGGGT GGTCGGAGCAGCCCGGCTGGGATGGGAGTGTGGGGGCTACAGGCACCTAG GGGTGGGCGCTGAGTGCTGGGCGGTCTCATGTCCACGGGGTGGGGTGGTC GGAGCAGCCCAGCTGGGACGGGAGTGTGGGGGTTGCGAGCTCCTAGGGAC ACTGAGTGCCGGGCAGCCTCGTGTCCGCGGGGCGC	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0099 a0003c0005t0002g0099	1	378	0.0027	-284	c.315 others(16): Show c.315-1076_315-793del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79694201	CCTCATGT others(277): Show CCTCATGTCTGCAGGGCAGGGTGGTCGGAGCAGCCCGGCTGGGATGGGAG TGTGGGGGCTACAGGCACCTAGGGGTGGGCGCTGAGTGCTGGGCGGTCTC ATGTCCACGGGGTGGGGTGGTCGGAGCAGCCCAGCTGGGACGGGAGTGTG GGGGTTGCGAGCTCCTAGGGACACTGAGTGCCGGGCAGCCTCGTGTCCGC GGGGCGCGGTGGTCGGAGCAGCCCGGCTGGGATGGGAGTGTGGGGGCTAC AGGCACCTAGGGGTGGGCGCTGAGTGCTGGGCGGT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG03579.hp1 HG02970.hp2 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0014 a0001c0036 a0001c0014 a0001c0036	a0001c0014t0001 a0001c0036t0001 a0001c0014t0001 a0001c0036t0001	a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0036t0001g0013 a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0036t0001g0013	3	378	0.0079	-284	c.315 others(16): Show c.315-1015_315-732del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79694244	ATGGGAGT others(277): Show ATGGGAGTGTGGGGGCTACAGGCACCTAGGGGTGGGCGCTGAGTGCTGGG CGGTCTCATGTCCACGGGGTGGGGTGGTCGGAGCAGCCCAGCTGGGACGG GAGTGTGGGGGTTGCGAGCTCCTAGGGACACTGAGTGCCGGGCAGCCTCG TGTCCGCGGGGCGCGGTGGTCGGAGCAGCCCGGCTGGGATGGGAGTGTGG GGGCTACAGGCACCTAGGGGTGGGCGCTGAGTGCTGGGCGGTCTCATGTC CACGGGGTGGGGTGGTCGGAGCAGCCCGGCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG01070.hp1 others(24): Show HG00423.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01255.hp1 HG01257.hp1 HG01934.hp1 HG01943.hp2 HG02083.hp2 HG02109.hp2 HG02300.hp2 HG02647.hp1 HG02896.hp2 HG02965.hp1 HG03130.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18951.hp1 NA18952.hp2 NA18987.hp1 NA18997.hp1 NA19009.hp1 NA19070.hp1 NA19089.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0007 a0001c0020 a0003c0023 others(2): Show a0001c0007 a0001c0020 a0003c0023 a0005c0011 a0005c0015	a0001c0007t0003 a0001c0007t0012 a0001c0020t0001 others(3): Show a0001c0007t0003 a0001c0007t0012 a0001c0020t0001 a0003c0023t0003 a0005c0011t0005 a0005c0015t0005	a0001c0007t0003g0004 a0001c0007t0003g0345 a0001c0007t0003g0346 others(23): Show a0001c0007t0003g0004 a0001c0007t0003g0345 a0001c0007t0003g0346 a0001c0007t0003g0347 a0001c0007t0003g0348 a0001c0007t0003g0350 a0001c0007t0003g0351 a0001c0007t0003g0352 a0001c0007t0003g0354 a0001c0007t0003g0355 a0001c0007t0003g0356 a0001c0007t0003g0357 a0001c0007t0003g0358 a0001c0007t0003g0359 a0001c0007t0003g0360 a0001c0007t0003g0362 a0001c0007t0003g0363 a0001c0007t0003g0364 a0001c0007t0003g0365 a0001c0007t0012g0353 a0001c0020t0001g0349 a0003c0023t0003g0361 a0005c0011t0005g0367 a0005c0011t0005g0368 a0005c0011t0005g0370 a0005c0015t0005g0369	27	378	0.0714	-284	c.315 others(15): Show c.315-964_315-681del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX51_chr12_132131594_132149319	132134755	TCCCCGAG others(277): Show TCCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCT CCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTG TGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCG CTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCT CCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0008 a0002c0005t0005g0008	1	334	0.0030	-284	c.42 others(11): Show c.4233_*4516del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1838		chr12	TogoVar
DNAJB8_chr3_128457437_128471890	128469896	CCACCCAG others(277): Show CCACCCAGCCACCCACACACCCAGCCACCCACCCACCCAGCCAGCCACTC ACCCACCCAGCCACCCACACAGCCAGCCACCCAGCCACTCATACACCCAG CCACCCAGCCACCCACCCACCCAGCCACCCAGCCACCCATACACCCAGCC ACCCAGCCACCCAGCCACCCATACACCCAGCCACCCAGCCACCCACACAC CCAGCCATTCACACACCCAGCCACCCCCCCACCCAGCCACATGCACACCC AGCCACCCAGCCACCCACACACCCAGCCATTTGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	458	0.0022	-284	c.-45 others(11): Show c.-4593_-4310del	DNAJB8	ENSG00000179407.4	transcript	ENST00000319153.4	protein_coding		3007		chr3	TogoVar
FNTB_chr14_64981895_65067650	65060426	TAAAAATA others(277): Show TAAAAATACAAAAATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG01074.hp2 others(110): Show HG00438.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01981.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18956.hp1 NA18964.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19067.hp2 NA19084.hp2 NA19086.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0002 a0001c0001 a0001c0005 a0004c0002	a0001c0001t0002 a0001c0005t0002 a0004c0002t0002 a0001c0001t0002 a0001c0005t0002 a0004c0002t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 others(109): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0294 a0001c0001t0002g0310 a0001c0001t0002g0314 a0001c0001t0002g0333 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0344 a0001c0001t0002g0351 a0001c0005t0002g0286 a0004c0002t0002g0012	113	360	0.3139	-284	c.118 others(17): Show c.1183-740_1183-457del	FNTB	ENSG00000257365.8	transcript	ENST00000246166.3	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
GZMA_chr5_55097646_55115252	55105978	AAAATAAA others(277): Show AAAATAAAATAAAATAAATAAAATAAAATAAAATAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAA TAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG02717.hp2 HG03098.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0018 a0004c0005t0001g0018	2	390	0.0051	-284	c.215 others(15): Show c.215+378_215+661del	GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406083	GTGTTTGT others(277): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0218 a0001c0001t0218	a0001c0001t0218g0184 a0001c0001t0218g0184	1	276	0.0036	-284	c.46 others(9): Show c.467_*750del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	467		chr2	TogoVar
LRRC27_chr10_132327193_132386508	132358824	AAGGAGCC others(277): Show AAGGAGCCGAGCTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGC AGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGT GGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCC GAGGTGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAG GAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGC GTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG01243.hp2 others(3): Show HG00423.hp2 HG00642.hp2 HG01243.hp2 HG01256.hp2 NA18951.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0231 a0001c0002t0003g0236 a0001c0002t0003g0241 others(3): Show a0001c0002t0003g0231 a0001c0002t0003g0236 a0001c0002t0003g0241 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0268	6	290	0.0207	-284	c.117 others(19): Show c.1171-2622_1171-2339del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
NHEJ1_chr2_219064357_219165815	219067056	AGGCATGG others(277): Show AGGCATGGTGGTATCCACCTGTAATCCCAGCTATTCAAATGGCTGAGGCA CCAGAATTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGC ACCACTCCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCTAAATAA ATAGGCTGGGCGCGGTGGTTCACACCTGTAATCCCAGGGAGGCGGAAGTG GGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTAGAAACATGGTGA AACCTCATCTCTACTAAAAATACAAAAATTAGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00544.hp2 others(55): Show HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03942.hp1 HG06807.hp2 NA18747.hp2 NA18942.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18985.hp1 NA18992.hp1 NA18995.hp2 NA19002.hp2 NA19005.hp2 NA19058.hp1 NA19060.hp2 NA19067.hp1 NA19074.hp2 NA19076.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 others(7): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0034 a0001c0001t0038 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048	a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 others(51): Show a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0338 a0001c0001t0010g0161 a0001c0001t0010g0333 a0001c0001t0010g0334 a0001c0001t0010g0335 a0001c0001t0015g0175 a0001c0001t0015g0180 a0001c0001t0015g0339 a0001c0001t0017g0008 a0001c0001t0017g0009 a0001c0001t0023g0152 a0001c0001t0023g0153 a0001c0001t0034g0139 a0001c0001t0038g0156 a0001c0001t0044g0154 a0001c0001t0045g0200 a0001c0001t0048g0028	58	350	0.1657	-284	c.90 others(11): Show c.9041_*9324del	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding		2300		chr2	TogoVar
PARVB_chr22_44019302_44177939	44113937	CTAAGGCC others(277): Show CTAAGGCCCTGCACCAGCACAGATATATTGTTACTAAGGCCCTGCACCAA CACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGATATGTTG TTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCT GCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGA TACGTTGTTACTAAGTATGGCCCTGCACCAACACAGATACATTGTTACTA AGGCCCTGCACCAACACAGATACATTGTTACTAAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0036 a0003c0034t0036	a0003c0034t0036g0325 a0003c0034t0036g0325	1	332	0.0030	-284	c.274 others(17): Show c.274-5085_274-4802del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 10000 hits)