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
CENPH_chr5_69184583_69215357	69200719	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG02165.hp2 others(2): Show HG01071.hp2 HG01496.hp1 HG02165.hp2 HG03471.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0189 a0001c0001t0001g0248 a0001c0001t0001g0012 a0001c0001t0001g0189 a0001c0001t0001g0248	5	388	0.0129	21	c.372 others(38): Show c.372-1773_372-1753dupTTTTTTTTTTTTTTTTTTTTT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPI_chrX_101093204_101171126	101162473	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0010 a0001c0002t0005g0010	1	282	0.0036	21	c.213 others(38): Show c.2137-359_2137-358insATATATATATATATATATATA	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	21/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPL_chr1_173794550_173829883	173825449	C C	CATTATTA others(14): Show CATTATTATTATTATTATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA18992.hp2 HG01891.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0126 a0001c0001t0002g0021 a0001c0001t0002g0126	2	358	0.0056	21	c.-13 others(32): Show c.-1360_-1340dupAATAATAATAATAATAATAAT	CENPL	ENSG00000120334.16	transcript	ENST00000682279.1	protein_coding		567		chr1	TogoVar
CENPM_chr22_41933737_41952152	41939445	A A	ATGAAGGC others(14): Show ATGAAGGCTTAACAAGGCTGGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0202 a0001c0002t0004g0202	1	258	0.0039	21	c.403 others(36): Show c.403-270_403-250dupGCCAGCCTTGTTAAGCCTTCA	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPO_chr2_24788425_24827376	24817466	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02074.hp2 others(7): Show HG00621.hp2 HG00673.hp1 HG02074.hp2 HG02080.hp2 HG03669.hp1 NA18942.hp1 NA18998.hp1 NA19001.hp2 NA19010.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0017 a0002c0002t0003 a0002c0002t0017	a0002c0002t0003g0011 a0002c0002t0003g0026 a0002c0002t0003g0080 others(4): Show a0002c0002t0003g0011 a0002c0002t0003g0026 a0002c0002t0003g0080 a0002c0002t0003g0090 a0002c0002t0003g0093 a0002c0002t0017g0026 a0002c0002t0017g0091	10	382	0.0262	21	c.767 others(36): Show c.767-194_767-193insAAAAAAAAAAAAAAAAAAAAA	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CENPO_chr2_24788425_24827376	24825334	C C	CGGGGGGG others(14): Show CGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0240 a0001c0001t0006g0240	1	382	0.0026	21	c.60 others(32): Show c.6016_*6017insGGGGGGGGGGGGGGGGGGGGG	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding		2959		chr2	TogoVar
CENPP_chr9_92320953_92625529	92532015	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	260	0.0039	21	c.565 others(40): Show c.565-79286_565-79285insTTTTTTTTTTTTTTTTTTTTT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0087 a0001c0001t0013g0087	1	260	0.0039	21	c.565 others(40): Show c.565-77985_565-77984insAAAAAAATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	260	0.0039	21	c.565 others(40): Show c.565-77985_565-77984insAAAAATATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92552191	A A	ATATGTGA others(14): Show ATATGTGATATGATAGATCTAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG03710.hp2 HG01168.hp1 HG01169.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028	3	260	0.0115	21	c.565 others(40): Show c.565-59123_565-59122insTATGTGATATGATAGATCTAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7			chr9	TogoVar
CEP112_chr17_65630537_66197133	65870065	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG02145.hp1 others(5): Show HG00438.hp2 HG00642.hp2 HG02145.hp1 HG03688.hp1 HG03704.hp1 NA19056.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0001 a0002c0001t0002	a0001c0002t0001g0014 a0001c0002t0001g0058 a0001c0002t0001g0060 others(5): Show a0001c0002t0001g0014 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0093 a0002c0001t0001g0017 a0002c0001t0001g0079 a0002c0001t0002g0111	8	112	0.0714	21	c.216 others(42): Show c.2164-18032_2164-18031insTCTTTCTTTCTTTCTTTCTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65926713	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG03831.hp2 HG02257.hp2 HG02451.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0003 a0001c0003t0001 a0002c0001t0003	a0001c0003t0001g0007 a0001c0003t0001g0062 a0002c0001t0003g0019 a0001c0003t0001g0007 a0001c0003t0001g0062 a0002c0001t0003g0019	3	112	0.0268	21	c.198 others(38): Show c.1980+848_1980+868dupATTATTATTATTATTATTATT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTAGT others(14): Show CTATTAGTAGTAGTAGTAGTAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0003 a0001c0003t0006g0003	1	112	0.0089	21	c.187 others(42): Show c.1872+10763_1872+10764insCTACTACTACTACTACTAATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTATT others(14): Show CTATTATTATTAGTAGTAGTAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 homoSapiens_chm13v2.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0093 a0001c0003t0001g0009 a0001c0002t0001g0093 a0001c0003t0001g0009	2	112	0.0179	21	c.187 others(42): Show c.1872+10763_1872+10764insCTACTACTACTAATAATAATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTATT others(14): Show CTATTATTATTATTAGTAGTAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp1 HG03492.hp2 others(2): Show HG02602.hp1 HG02683.hp1 HG03492.hp2 HG03688.hp1 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0076 others(2): Show a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080	5	112	0.0446	21	c.187 others(42): Show c.1872+10763_1872+10764insCTACTACTAATAATAATAATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTATT others(14): Show CTATTATTATTATTATTAGTAG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02976.hp2 HG01258.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0090 a0001c0002t0001g0020 a0001c0002t0001g0090	2	112	0.0179	21	c.187 others(42): Show c.1872+10763_1872+10764insCTACTAATAATAATAATAATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTATT others(14): Show CTATTATTATTATTATTATCAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0010 a0006c0010t0001g0010	1	112	0.0089	21	c.187 others(42): Show c.1872+10763_1872+10764insCTGATAATAATAATAATAATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02572.hp1 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0061 a0001c0002t0001g0021 a0001c0002t0001g0061	2	112	0.0179	21	c.187 others(42): Show c.1872+10763_1872+10764insCTAATAATAATAATAATAATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65950699	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02027.hp2 HG02280.hp1 others(4): Show HG01346.hp2 HG02027.hp2 HG02280.hp1 HG02572.hp2 HG03688.hp2 NA18522.hp2 NA18985.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0006 a0001c0002 a0001c0003 a0004c0006	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0004c0006t0002	a0001c0002t0001g0081 a0001c0003t0001g0006 a0001c0003t0001g0033 others(4): Show a0001c0002t0001g0081 a0001c0003t0001g0006 a0001c0003t0001g0033 a0001c0003t0001g0074 a0001c0003t0002g0109 a0001c0003t0002g0112 a0004c0006t0002g0110	7	112	0.0625	21	c.187 others(42): Show c.1872+10763_1872+10764insATAATAATAATAATAATAATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0265 a0001c0001t0022g0265	1	336	0.0030	21	c.249 others(38): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	102003215	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03490.hp1 HG03492.hp2 HG02647.hp2 HG03490.hp1 HG03492.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0053 a0003c0004t0010 a0003c0004t0053	a0003c0004t0010g0009 a0003c0004t0053g0320 a0003c0004t0010g0009 a0003c0004t0053g0320	3	336	0.0089	21	c.55 others(32): Show c.5572_*5573insATATATATATATATATATATA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		2154		chr11	TogoVar
CEP128_chr14_80491479_80946738	80729128	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0145 a0002c0006t0003g0145	1	164	0.0061	21	c.280 others(42): Show c.2806+13946_2806+13947insCACACACACACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP162_chr6_84119250_84232643	84159547	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0005 a0001c0005t0004g0195 a0001c0005t0004g0005 a0001c0005t0004g0195	2	214	0.0094	21	c.278 others(40): Show c.2781+1264_2781+1265insAAAAAAAAAAATATATATATA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP250_chr20_35450598_35524280	35451050	A A	ATATATAT others(14): Show ATATATATATATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01433.hp1 HG01515.hp2 others(2): Show HG01192.hp1 HG01433.hp1 HG01515.hp2 HG03098.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0200	5	260	0.0192	21	c.-49 others(32): Show c.-4999_-4998insTATATATATATATAAATATAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4547		chr20	TogoVar
CEP43_chr6_166994397_167057718	167019280	A A	ATACACCT others(14): Show ATACACCTGCTGTGCACACGCG	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18942.hp2 NA18947.hp2 others(4): Show HG02129.hp1 NA18942.hp2 NA18947.hp2 NA18979.hp1 NA19011.hp2 NA19056.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0046 a0001c0001t0161 others(1): Show a0001c0001t0023 a0001c0001t0046 a0001c0001t0161 a0001c0001t0163	a0001c0001t0023g0019 a0001c0001t0023g0222 a0001c0001t0023g0268 others(4): Show a0001c0001t0023g0019 a0001c0001t0023g0222 a0001c0001t0023g0268 a0001c0001t0046g0019 a0001c0001t0046g0278 a0001c0001t0161g0233 a0001c0001t0163g0019	7	376	0.0186	21	c.580 others(38): Show c.580-3109_580-3089dupCGTACACCTGCTGTGCACACG	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57_chr11_95785498_95837693	95789602	A A	ACCAGGGC others(14): Show ACCAGGGCCTCGCCGCGAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0035 a0002c0002t0002g0035	1	340	0.0029	21	c.-10 others(32): Show c.-1097_-1096insCCAGGGCCTCGCCGCGAGAGC	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding		895		chr11	TogoVar
CEP63_chr3_134481057_134570031	134503840	G G	GTTTCATT others(14): Show GTTTCATTTGTGTAGGATATTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0108 a0001c0001t0021g0108	1	322	0.0031	21	c.45- others(36): Show c.45-3265_45-3264insATTTGTGTAGGATATTTTTTC	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134547614	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00609.hp1 others(30): Show HG00099.hp2 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG01071.hp1 HG01255.hp1 HG01261.hp2 HG01516.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02300.hp1 HG02300.hp2 HG02723.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03831.hp1 HG03831.hp2 NA18940.hp1 NA18950.hp1 NA18950.hp2 NA18974.hp1 NA18995.hp2 NA19006.hp2 NA19012.hp2 NA19060.hp1 NA19067.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0011	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0002c0011t0001	a0001c0001t0001g0008 a0001c0001t0001g0216 a0001c0001t0001g0286 others(29): Show a0001c0001t0001g0008 a0001c0001t0001g0216 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0001t0001g0301 a0002c0002t0001g0210 a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0228 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0240 a0002c0002t0001g0243 a0002c0002t0001g0251 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0262 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0275 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0297 a0002c0005t0001g0178 a0002c0011t0001g0294	33	322	0.1025	21	c.106 others(38): Show c.1067+157_1067+158insTTTTTTTTTTTTTTTTTTTTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03834.hp1 HG03486.hp2 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0241 a0002c0002t0002g0203 a0002c0002t0002g0241	2	302	0.0066	21	c.102 others(42): Show c.1021-19001_1021-18981dupTTTTTTTTTTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(14): Show GGGGGGGGGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	302	0.0033	21	c.232 others(40): Show c.232+32152_232+32153insACACACACACACCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26235567	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0296 a0004c0004t0003g0296	1	342	0.0029	21	c.-23 others(38): Show c.-23+1277_-23+1278insTTTTTTTTTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19067.hp1 NA19012.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0164 a0001c0001t0003g0158 a0001c0001t0003g0164	2	342	0.0059	21	c.208 others(38): Show c.208+4406_208+4426dupTTTTTTTTTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26256928	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA20129.hp1 NA19079.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0298 a0002c0002t0001g0228 a0001c0001t0001g0298 a0002c0002t0001g0228	2	342	0.0059	21	c.904 others(36): Show c.904-669_904-668insTGTGTGTGTGTGTGTGTGTGT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13			chr1	TogoVar
CEP89_chr19_32870925_32976958	32902034	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	386	0.0026	21	c.156 others(38): Show c.1566-623_1566-622insACACACACACACACACACACA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32944220	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01070.hp2 others(10): Show HG00099.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp2 HG01192.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG02738.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 NA18522.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0005 a0000c0005t0019 a0000c0005t0020 others(2): Show a0000c0005t0005 a0000c0005t0019 a0000c0005t0020 a0000c0005t0041 a0000c0005t0042	a0000c0005t0005g0097 a0000c0005t0005g0098 a0000c0005t0005g0102 others(10): Show a0000c0005t0005g0097 a0000c0005t0005g0098 a0000c0005t0005g0102 a0000c0005t0005g0112 a0000c0005t0005g0116 a0000c0005t0005g0117 a0000c0005t0005g0120 a0000c0005t0005g0268 a0000c0005t0019g0113 a0000c0005t0020g0107 a0000c0005t0020g0121 a0000c0005t0041g0111 a0000c0005t0042g0109	13	386	0.0337	21	c.595 others(38): Show c.595+4045_595+4046insTTTTTTTTTTTTTTTTTTTTT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	5/18			chr19	TogoVar
CERKL_chr2_181531672_181662105	181606366	A A	AGGGAGAG others(14): Show AGGGAGAGGAGGAGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02257.hp1 HG03098.hp1 others(4): Show HG01361.hp1 HG02257.hp1 HG03098.hp1 HG03195.hp2 NA18989.hp2 NA19074.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0002c0004t0004	a0001c0001t0001g0287 a0001c0001t0002g0154 a0001c0001t0007g0143 others(4): Show a0001c0001t0001g0287 a0001c0001t0002g0154 a0001c0001t0007g0143 a0001c0002t0001g0092 a0002c0004t0004g0151 a0002c0004t0004g0245 a0002c0004t0004g0248	7	298	0.0235	21	c.239 others(38): Show c.239-2288_239-2287insCTCCCCTCCTCCTCCTCTCCC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181606366	A A	AGGGAGAG others(14): Show AGGGAGAGGAGGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01109.hp1 others(24): Show HG00140.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01358.hp2 HG01496.hp1 HG01975.hp2 HG02004.hp1 HG02165.hp2 HG02300.hp2 HG02572.hp2 HG02735.hp2 HG03239.hp1 HG03491.hp1 HG04204.hp1 NA18950.hp2 NA18957.hp2 NA18977.hp1 NA18986.hp2 NA19010.hp2 NA19011.hp1 NA19062.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0018 a0001c0002t0019	a0001c0001t0003g0163 a0001c0002t0002g0116 a0001c0002t0003g0001 others(21): Show a0001c0001t0003g0163 a0001c0002t0002g0116 a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0014 a0001c0002t0003g0020 a0001c0002t0003g0022 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0034 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0045 a0001c0002t0003g0048 a0001c0002t0003g0141 a0001c0002t0018g0044 a0001c0002t0019g0026	27	298	0.0906	21	c.239 others(38): Show c.239-2308_239-2288dupCTCCCCTCCCCCTCCTCTCCC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS1_chr19_18863545_18901158	18888890	T T	TATTCCAG others(14): Show TATTCCAGAATTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0299 a0001c0002t0002g0299	1	380	0.0026	21	c.409 others(38): Show c.409+4525_409+4526insGAAAGAAAGAAATTCTGGAAT	CERS1	ENSG00000223802.9	transcript	ENST00000623882.4	protein_coding	2/7			chr19	TogoVar
CERS3_chr15_100395395_100533950	100526478	C C	CTGTGTGT others(14): Show CTGTGTGTGTGTGTGTGTGGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	362	0.0028	21	c.-92 others(38): Show c.-92+2334_-92+2335insCACCACACACACACACACACA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	1/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8245116	A A	AAACAAAA others(14): Show AAACAAAAAAAACAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0009 a0003c0007t0009	a0003c0007t0009g0340 a0003c0007t0009g0340	1	418	0.0024	21	c.-1- others(36): Show c.-1-5958_-1-5957insCAAAAAAAACAAAAAAAACAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8266863	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	418	0.0024	21	c.47 others(32): Show c.4754_*4755insAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03491.hp1 HG04204.hp2 others(3): Show HG02559.hp2 HG03491.hp1 HG04204.hp2 NA18951.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0003c0007	a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 a0003c0004t0001 a0003c0007t0010	a0001c0001t0002g0256 a0001c0001t0002g0341 a0001c0001t0003g0161 others(3): Show a0001c0001t0002g0256 a0001c0001t0002g0341 a0001c0001t0003g0161 a0002c0003t0001g0279 a0003c0004t0001g0088 a0003c0007t0010g0033	6	418	0.0144	21	c.51 others(32): Show c.5185_*5186insAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50140284	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02258.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	2	320	0.0063	21	c.493 others(38): Show c.493-1688_493-1668dupAAAAAAAAAAAAAAAAAAAAA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	4/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148919	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0290 a0001c0002t0002g0290	1	320	0.0031	21	c.198 others(38): Show c.198-4863_198-4862insATATATATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148925	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0281 a0001c0002t0002g0281	1	320	0.0031	21	c.198 others(38): Show c.198-4869_198-4868insATATATATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168455505	T T	TATCATCA others(14): Show TATCATCATCATCATCATCATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02132.hp1 HG03453.hp2 others(5): Show HG02109.hp1 HG02132.hp1 HG03453.hp2 HG03486.hp1 HG03704.hp1 NA18949.hp2 NA19076.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0132 a0001c0001t0001g0173 a0001c0001t0002g0131 others(5): Show a0001c0001t0001g0132 a0001c0001t0001g0173 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0005g0134 a0001c0001t0011g0080 a0001c0001t0011g0081 a0001c0001t0011g0082	8	176	0.0455	21	c.-94 others(30): Show c.-944_-943insATCATCATCATCATCATCATC	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding		766		chr2	TogoVar
CERT1_chr5_75372775_75516629	75388627	T T	TATATATA others(14): Show TATATATATATCTCATGCATGC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	336	0.0030	21	c.128 others(38): Show c.1284+964_1284+965insGCATGCATGAGATATATATAT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	12/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01257.hp2 HG01515.hp1 others(23): Show HG00741.hp1 HG01257.hp2 HG01515.hp1 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02165.hp1 HG02165.hp2 HG02647.hp2 HG02735.hp1 HG02970.hp2 HG03490.hp2 NA18612.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18971.hp2 NA18979.hp2 NA18999.hp1 NA19005.hp1 NA19030.hp1 NA19056.hp1 NA19079.hp1 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0314 a0001c0001t0002g0214 a0001c0001t0002g0221 others(23): Show a0001c0001t0001g0314 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0259 a0001c0001t0002g0269 a0001c0001t0003g0294 a0001c0001t0007g0224 a0001c0001t0010g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0004g0059	26	336	0.0774	21	c.118 others(40): Show c.1189-3936_1189-3916dupTTTTTTTTTTTTTTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES1_chr16_55797851_55838096	55837579	T T	TTAACTAC others(14): Show TTAACTACCTTTGGCAAGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02735.hp1 HG03490.hp2 others(3): Show HG02155.hp2 HG02735.hp1 HG03490.hp2 HG04115.hp2 NA18943.hp1 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0002 a0002c0002t0002 a0002c0006t0002	a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0067 others(3): Show a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0006t0002g0068	6	87	0.0690	21	c.-45 others(32): Show c.-4525_-4524insGACCCTTGCCAAAGGTAGTTA	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		4484		chr16	TogoVar
CES5A_chr16_55841154_55880373	55866658	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG02040.hp2 others(2): Show HG00609.hp1 HG01070.hp2 HG02040.hp2 HG02055.hp2 HG02132.hp1	a0003 a0008 a0010 others(1): Show a0003 a0008 a0010 a0012	a0003c0004 a0003c0053 a0008c0009 others(2): Show a0003c0004 a0003c0053 a0008c0009 a0010c0029 a0012c0014	a0003c0004t0006 a0003c0053t0004 a0008c0009t0004 others(2): Show a0003c0004t0006 a0003c0053t0004 a0008c0009t0004 a0010c0029t0004 a0012c0014t0002	a0003c0004t0006g0144 a0003c0053t0004g0057 a0008c0009t0004g0080 others(2): Show a0003c0004t0006g0144 a0003c0053t0004g0057 a0008c0009t0004g0080 a0010c0029t0004g0051 a0012c0014t0002g0255	5	449	0.0111	21	c.552 others(36): Show c.552-543_552-542insTTTTTTTTTTTTTTTTTTTTT	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/12			chr16	TogoVar

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