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
CASC3_chr17_40135537_40177171	40140393	C C	CCAACACA others(11): Show CCAACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	266	0.0038	18	c.-15 others(27): Show c.-156_-155insCAACACACACACACCCCA		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					143		chr17	TogoVar
CASD1_chr7_94504809_94562019	94559308	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA18939.hp2 HG06807.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0083 a0001c0001t0001g0012 a0001c0001t0001g0083	2	398	0.0050	18	c.35 others(29): Show c.3550_*3551insTGTGTGTGTGTGTGTGTA		CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding					2290		chr7	TogoVar
CASK_chrX_41509934_41928554	41598134	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0037 a0001c0001t0006g0038	2	164	0.0122	18	c.115 others(37): Show c.1156-8560_1156-8543dupGTGTGTGTGTGTGTGTGT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	12/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41608180	G G	GTGAATAA others(11): Show GTGAATAAAAGTTCTGTGC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	164	0.0061	18	c.115 others(37): Show c.1155+1706_1155+1723dupGCACAGAACTTTTATTCA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	12/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41710081	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	164	0.0061	18	c.429 others(37): Show c.429+29285_429+29302dupCACACACACACACACACA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	164	0.0061	18	c.172 others(37): Show c.172+23401_172+23418dupATATATATATATATATAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02896.hp1 HG01169.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0136 a0001c0001t0001g0143	2	164	0.0122	18	c.60- others(35): Show c.60-16603_60-16586dupTTTTTTTTTTTTTTTTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26						chrX	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18959.hp2 NA19001.hp1 HG02027.hp1 NA18959.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0207 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0207	3	366	0.0082	18	c.483 others(33): Show c.483+205_483+222dupTTTTTTTTTTTTTTTTTT		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7						chr4	TogoVar
CASP4_chr11_104937866_104973574	104944368	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	358	0.0028	18	c.5+ others(31): Show c.5+379_*5+380insCACAGAGAGAGAGAGAGA		CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	8/8						chr11	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18998.hp1 NA19075.hp2 HG02027.hp1 NA18998.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0179 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0179	3	416	0.0072	18	c.-27 others(29): Show c.-2737_-2736insTATATATATATATATATA		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2687		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0346 a0001c0001t0003g0346	1	406	0.0025	18	c.-1+ others(33): Show c.-1+7817_-1+7818insTTCTTTCTTTCTTTCTTT		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113729503	T T	TCTCCATG others(11): Show TCTCCATGCTCCGCAGGTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0204 a0005c0009t0003g0204	1	406	0.0025	18	c.885 others(25): Show c.885_886insCGCAGGTACTCCATGCTC	p.Leu others(31): Show p.Leu295_Thr296insArgArgTyrSerMetLeu	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	7/7	953/2344	886/912	296/303		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	18	c.-46 others(29): Show c.-4666_-4665insAAAAAAAAAAAAAAAAAA		CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding					4488		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115739124	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03017.hp1 HG03041.hp2 others(4): Show HG01074.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0005c0009	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0002c0003t0001 a0002c0004t0002 a0005c0009t0013	a0001c0001t0002g0080 a0001c0002t0001g0167 a0001c0002t0003g0186 others(4): Show a0001c0001t0002g0080 a0001c0002t0001g0167 a0001c0002t0003g0186 a0002c0003t0001g0311 a0002c0004t0002g0258 a0002c0004t0002g0327 a0005c0009t0013g0032	7	364	0.0192	18	c.421 others(33): Show c.421-790_421-789insAAAAAAAAAAAAAAAAAA		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	3/10						chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	ACTCAGTC others(11): Show ACTCAGTCAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp2 HG03486.hp2 HG01884.hp2 HG02818.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0007 a0002c0004t0011 a0002c0003t0007 a0002c0004t0011	a0002c0003t0007g0018 a0002c0003t0007g0019 a0002c0004t0011g0010 a0002c0003t0007g0018 a0002c0003t0007g0019 a0002c0004t0011g0010	3	364	0.0082	18	c.234 others(35): Show c.234+6868_234+6869insCTTTTTTTTTTGACTGAG		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10						chr1	TogoVar
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01167.hp2 others(19): Show HG00408.hp2 HG00423.hp2 HG01167.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG02071.hp1 HG02135.hp1 HG02615.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03540.hp1 HG03927.hp1 HG06807.hp2 NA18906.hp2 NA18982.hp1 NA18993.hp2 NA19001.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0005t0002 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0206 others(19): Show a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0206 a0001c0001t0007g0133 a0001c0002t0002g0114 a0001c0002t0002g0150 a0001c0002t0002g0177 a0001c0002t0002g0261 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0343 a0001c0002t0004g0115 a0001c0005t0002g0158 a0001c0005t0002g0168 a0001c0005t0002g0295 a0002c0003t0001g0066 a0002c0003t0001g0172 a0002c0004t0001g0058 a0002c0004t0001g0061 a0002c0004t0001g0088 a0002c0004t0001g0098 a0002c0004t0001g0116	22	376	0.0585	18	c.460 others(35): Show c.460-2420_460-2419insAAAAAAAAAAAAAAAAAA		CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74960712	A A	ATATATAT others(11): Show ATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0029 a0001c0001t0088g0029	1	228	0.0044	18	c.-42 others(29): Show c.-4274_-4273insTATATATATATATATATT		CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding					3992		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG02818.hp2 others(1): Show HG01884.hp2 HG02809.hp1 HG02818.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0016g0119	4	228	0.0175	18	c.-19 others(29): Show c.-1912_-1911insAAAAAAAAAAAAAAAAAA		CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding					1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026188	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0009 a0001c0001t0079g0009	1	228	0.0044	18	c.14 others(29): Show c.1489_*1490insTTTTTTTTTTTTTTTTTT		CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9				1490		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026189	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01257.hp1 others(6): Show HG01069.hp2 HG01071.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG02074.hp2 HG03491.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0029 a0001c0001t0035 others(1): Show a0001c0001t0012 a0001c0001t0029 a0001c0001t0035 a0001c0001t0076	a0001c0001t0012g0001 a0001c0001t0012g0070 a0001c0001t0012g0071 others(6): Show a0001c0001t0012g0001 a0001c0001t0012g0070 a0001c0001t0012g0071 a0001c0001t0012g0072 a0001c0001t0029g0064 a0001c0001t0029g0065 a0001c0001t0035g0158 a0001c0001t0035g0159 a0001c0001t0076g0107	9	228	0.0395	18	c.15 others(29): Show c.1507_*1508insTTTTTTTTTTTTTTTTTT		CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9				1508	INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96666257	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0011 a0010c0016t0011	a0010c0016t0011g0026 a0010c0016t0011g0026	1	358	0.0028	18	c.75+ others(33): Show c.75+3765_75+3782dupACACACACACACACACAC		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp2 HG02809.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0057 a0002c0004t0001g0101 a0001c0001t0002g0057 a0002c0004t0001g0101	2	358	0.0056	18	c.138 others(35): Show c.138+4761_138+4778dupAAAAAAAAAAAAAAAAAA		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	2/31					INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96696686	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0021 a0002c0003t0003g0021	1	358	0.0028	18	c.210 others(33): Show c.210+792_210+793insAAAAAAAAAAAAAAAAAA		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96730023	A A	ACAGCAGA others(11): Show ACAGCAGACAGCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02258.hp2 others(10): Show HG01257.hp2 HG01258.hp2 HG02258.hp2 HG02615.hp2 HG02970.hp1 HG03453.hp1 NA18942.hp1 NA18949.hp2 NA18970.hp1 NA18973.hp2 NA18994.hp1 NA19001.hp2 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0001c0012 a0002c0003	a0001c0012t0001 a0002c0003t0002 a0002c0003t0003 others(1): Show a0001c0012t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0015	a0001c0012t0001g0328 a0001c0012t0001g0329 a0002c0003t0002g0289 others(7): Show a0001c0012t0001g0328 a0001c0012t0001g0329 a0002c0003t0002g0289 a0002c0003t0002g0291 a0002c0003t0002g0294 a0002c0003t0002g0296 a0002c0003t0003g0016 a0002c0003t0003g0311 a0002c0003t0003g0330 a0002c0003t0015g0002	13	358	0.0363	18	c.549 others(33): Show c.549+301_549+302insCAGACAGCTGTCTCCCAG		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	8/31					INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG01109.hp1 others(5): Show HG01069.hp1 HG01099.hp1 HG01109.hp1 HG02071.hp2 HG02486.hp2 HG03540.hp1 NA18747.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0040	a0001c0001t0001 a0001c0002t0004 a0001c0002t0051 others(4): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0051 a0001c0003t0002 a0001c0003t0005 a0001c0008t0011 a0001c0040t0002	a0001c0001t0001g0125 a0001c0001t0001g0184 a0001c0002t0004g0139 others(5): Show a0001c0001t0001g0125 a0001c0001t0001g0184 a0001c0002t0004g0139 a0001c0002t0051g0147 a0001c0003t0002g0053 a0001c0003t0005g0004 a0001c0008t0011g0173 a0001c0040t0002g0188	8	236	0.0339	18	c.-24 others(35): Show c.-24+5394_-24+5411dupGTGTGTGTGTGTGTGTGT		CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20						chr1	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp2 HG01169.hp1 others(15): Show HG00639.hp1 HG01168.hp2 HG01169.hp1 HG02165.hp1 HG02300.hp2 HG02615.hp2 HG02886.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp1 NA18959.hp1 NA18960.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA19011.hp2 NA19072.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0024 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0002t0001g0014 a0001c0002t0001g0092 a0001c0002t0001g0093	18	366	0.0492	18	c.118 others(32): Show c.118+86_118+103dupCTCTCTCTCTCTCTCTCT		CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER2_chr15_43623503_43653844	43627676	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	392	0.0026	18	c.30 others(29): Show c.3024_*3025insCACACACACACACACACA		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding					826		chr15	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(11): Show CTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02809.hp1 others(5): Show HG01891.hp1 HG02559.hp1 HG02809.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG04204.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0182 others(3): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0010g0189	8	392	0.0204	18	c.842 others(33): Show c.842+617_842+618insAAAAAAAAAAAAAAGAAA		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12						chr15	TogoVar
CATSPER4_chr1_26185602_26207964	26199598	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0063 a0003c0006t0001g0063	1	398	0.0025	18	c.813 others(33): Show c.813-273_813-272insAAAAAAAAAAAAAAAAAA		CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAAAAGA others(11): Show AAAAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA19057.hp2 NA18966.hp1 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0007 a0001c0003t0002g0007	2	398	0.0050	18	c.52 others(29): Show c.5235_*5236insAAAAAGAAAGAAAGAAAG		CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding					4814		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91586561	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	271	0.0037	18	c.313 others(35): Show c.3132+640_3132+641insTTCTCTCTCTCTCTCTCT		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26						chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586563	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01516.hp2 others(6): Show HG01167.hp1 HG01169.hp2 HG01516.hp2 HG01517.hp1 HG02622.hp2 NA18965.hp1 NA19003.hp2 NA19088.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 others(6): Show a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0182 a0001c0001t0001g0219 a0003c0004t0001g0194	9	271	0.0332	18	c.313 others(35): Show c.3132+638_3132+639insTTCTCTCTCTCTCTCTCT		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26						chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18963.hp1 NA18963.hp2 HG03209.hp2 NA18963.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0112 a0001c0001t0001g0214 a0001c0001t0001g0038 a0001c0001t0001g0112 a0001c0001t0001g0214	3	271	0.0111	18	c.128 others(37): Show c.1288-1561_1288-1544dupATATATATATATATATAT		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26						chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91672022	A A	AAACAACA others(11): Show AAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03209.hp1 NA19030.hp2 HG02922.hp1 HG03209.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0154 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0001g0154 a0001c0002t0002g0261 a0001c0002t0002g0262	3	271	0.0111	18	c.112 others(35): Show c.1128+827_1128+844dupGTTGTTGTTGTTGTTGTT		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	13/26						chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5715643	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0183 a0004c0003t0001g0183	1	336	0.0030	18	c.-50 others(29): Show c.-5095_-5094insAAAAAAAAAAAAAAAAAA		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding					4993		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02630.hp2 HG03704.hp2 others(5): Show HG02155.hp1 HG02630.hp2 HG03704.hp2 HG04199.hp1 HG04204.hp2 NA18960.hp1 NA18966.hp1 NA19007.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0032	a0001c0001 a0002c0002 a0003c0005 others(3): Show a0001c0001 a0002c0002 a0003c0005 a0004c0003 a0010c0011 a0032c0024	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0004c0003t0001 a0010c0011t0001 a0032c0024t0001	a0001c0001t0001g0232 a0002c0002t0001g0066 a0002c0002t0001g0073 others(5): Show a0001c0001t0001g0232 a0002c0002t0001g0066 a0002c0002t0001g0073 a0003c0005t0001g0253 a0003c0005t0001g0325 a0004c0003t0001g0080 a0010c0011t0001g0315 a0032c0024t0001g0204	8	336	0.0238	18	c.-44 others(29): Show c.-4479_-4478insATATATATATATATATAT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding					4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741785	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01346.hp1 HG01952.hp1 others(5): Show HG01071.hp1 HG01346.hp1 HG01952.hp1 HG02135.hp2 HG03486.hp1 HG03490.hp2 NA18971.hp2 NA18999.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0040 a0002c0002 others(3): Show a0001c0001 a0001c0040 a0002c0002 a0002c0019 a0003c0004 a0004c0003	a0001c0001t0001 a0001c0040t0001 a0002c0002t0003 others(3): Show a0001c0001t0001 a0001c0040t0001 a0002c0002t0003 a0002c0019t0001 a0003c0004t0001 a0004c0003t0001	a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0133 others(5): Show a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0133 a0001c0040t0001g0331 a0002c0002t0003g0138 a0002c0019t0001g0332 a0003c0004t0001g0095 a0004c0003t0001g0079	8	336	0.0238	18	c.573 others(35): Show c.573+2359_573+2360insGGGGGGGGGGGGGGGGGG		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5777226	T T	TGCCTTCT others(11): Show TGCCTTCTCTAGAGGCCCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp1 NA18972.hp2 others(2): Show HG00609.hp1 HG02027.hp1 NA18972.hp2 NA19011.hp1 NA19060.hp2	a0003 a0003	a0003c0004 a0003c0041 a0003c0004 a0003c0041	a0003c0004t0001 a0003c0041t0001 a0003c0004t0001 a0003c0041t0001	a0003c0004t0001g0192 a0003c0004t0001g0216 a0003c0004t0001g0287 others(2): Show a0003c0004t0001g0192 a0003c0004t0001g0216 a0003c0004t0001g0287 a0003c0004t0001g0324 a0003c0041t0001g0329	5	336	0.0149	18	c.209 others(35): Show c.2096+912_2096+929dupGCCTTCTCTAGAGGCCCC		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244528785	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0137 a0006c0010t0001g0138 a0006c0010t0001g0137 a0006c0010t0001g0138	2	206	0.0097	18	c.536 others(37): Show c.536+10111_536+10128dupACACACACACACACACAC		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553622	C C	CACACACA others(11): Show CACACACACATATATACAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01978.hp1 HG03710.hp1 HG01515.hp1 HG01978.hp1 HG03710.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0150 a0001c0006t0003g0186 a0001c0006t0003g0193 a0001c0006t0003g0150 a0001c0006t0003g0186 a0001c0006t0003g0193	3	206	0.0146	18	c.102 others(35): Show c.1029+817_1029+818insTATATACATACACACACA		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553624	C C	CACACACA others(11): Show CACACACACATATATACAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0198 a0001c0003t0001g0198	1	206	0.0049	18	c.102 others(35): Show c.1029+819_1029+820insTATATACATACACACACA		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp2 NA18989.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0183 a0001c0002t0002g0062 a0001c0001t0003g0183 a0001c0002t0002g0062	2	206	0.0097	18	c.103 others(37): Show c.1030-3102_1030-3085dupTATATATATATATATATA		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244578823	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0004 a0001c0020t0004	a0001c0020t0004g0149 a0001c0020t0004g0149	1	206	0.0049	18	c.195 others(37): Show c.1951-2969_1951-2952dupTATATATATATATATATA		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	11/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244584540	A A	ATATTATA others(11): Show ATATTATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02630.hp2 others(2): Show HG02257.hp1 HG02257.hp2 HG02630.hp2 HG02809.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0045 a0001c0003t0001g0197 a0001c0003t0002g0018 others(2): Show a0001c0003t0001g0045 a0001c0003t0001g0197 a0001c0003t0002g0018 a0001c0003t0002g0026 a0001c0003t0002g0027	5	206	0.0243	18	c.208 others(35): Show c.2085+604_2085+605insTATATTATATTATATTAT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625428	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	206	0.0049	18	c.264 others(37): Show c.2648+7743_2648+7744insTTTTTTTTTTTTTTTTTT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625430	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18941.hp1 HG00741.hp1 NA18941.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0024 a0001c0002 a0008c0024	a0001c0002t0002 a0008c0024t0001 a0001c0002t0002 a0008c0024t0001	a0001c0002t0002g0050 a0008c0024t0001g0081 a0001c0002t0002g0050 a0008c0024t0001g0081	2	206	0.0097	18	c.264 others(37): Show c.2648+7745_2648+7746insTTTTTTTTTTTTTTTTTT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01433.hp1 HG02622.hp1 others(3): Show HG00438.hp1 HG01433.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 NA18747.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0016t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0016t0001 a0003c0005t0001	a0001c0001t0001g0128 a0001c0002t0001g0001 a0001c0002t0001g0029 others(3): Show a0001c0001t0001g0128 a0001c0002t0001g0001 a0001c0002t0001g0029 a0001c0002t0001g0059 a0001c0016t0001g0075 a0003c0005t0001g0049	6	206	0.0291	18	c.264 others(37): Show c.2648+7747_2648+7748insATATTTTTTTTTTTTTTT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18943.hp2 NA18957.hp2 HG03834.hp2 NA18943.hp2 NA18957.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0057 a0001c0001t0001g0095 a0003c0005t0001g0091 a0001c0001t0001g0057 a0001c0001t0001g0095 a0003c0005t0001g0091	3	206	0.0146	18	c.264 others(37): Show c.2648+7747_2648+7748insATTTTTTTTTTTTTTTTT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19081.hp2 HG03704.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0179 a0001c0002t0004g0203 a0001c0001t0003g0179 a0001c0002t0004g0203	2	206	0.0097	18	c.264 others(37): Show c.2648+7761_2648+7762insTTTTTTTTTTTTTTTTTT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAT_chr11_34433934_34477060	34469125	C C	CCTGGCCT others(11): Show CCTGGCCTGTCCCAGAGCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	424	0.0024	18	c.143 others(35): Show c.1434+731_1434+748dupCTGGCCTGTCCCAGAGCT		CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr11	TogoVar

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