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
CEP126_chr11_101910010_102006062	101917028	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01891.hp2 others(5): Show HG00323.hp2 HG00642.hp1 HG01891.hp2 HG01978.hp1 HG02723.hp1 HG02922.hp1 HG02976.hp2 HG03540.hp1	a0001 a0012 a0013 a0001 a0012 a0013	a0001c0001 a0012c0015 a0013c0018 a0001c0001 a0012c0015 a0013c0018	a0001c0001t0008 a0001c0001t0015 a0012c0015t0035 others(1): Show a0001c0001t0008 a0001c0001t0015 a0012c0015t0035 a0013c0018t0015	a0001c0001t0008g0003 a0001c0001t0008g0030 a0001c0001t0008g0031 others(4): Show a0001c0001t0008g0003 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0034 a0001c0001t0015g0035 a0012c0015t0035g0032 a0013c0018t0015g0033	8	336	0.0238	-18	c.128 others(35): Show c.128+1647_128+1664delTGTGTGTGTGTGTGTGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	102003186	GTATATAT others(11): Show GTATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00597.hp1 others(47): Show HG00280.hp2 HG00423.hp2 HG00597.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02886.hp1 HG03017.hp1 HG03209.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG04228.hp2 NA18522.hp1 NA18943.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18972.hp2 NA18980.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA19011.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0036 a0001c0001t0037 others(8): Show a0001c0001t0001 a0001c0001t0036 a0001c0001t0037 a0001c0002t0001 a0001c0002t0005 a0001c0002t0014 a0001c0002t0019 a0001c0002t0044 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048	a0001c0001t0001g0055 a0001c0001t0001g0110 a0001c0001t0036g0303 others(47): Show a0001c0001t0001g0055 a0001c0001t0001g0110 a0001c0001t0036g0303 a0001c0001t0037g0302 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0262 a0001c0002t0001g0326 a0001c0002t0005g0006 a0001c0002t0005g0007 a0001c0002t0005g0155 a0001c0002t0005g0157 a0001c0002t0005g0161 a0001c0002t0005g0171 a0001c0002t0005g0176 a0001c0002t0005g0178 a0001c0002t0005g0179 a0001c0002t0005g0196 a0001c0002t0014g0195 a0001c0002t0014g0197 a0001c0002t0014g0280 a0001c0002t0019g0162 a0001c0002t0044g0264 a0001c0002t0046g0170 a0001c0002t0047g0198 a0001c0002t0048g0263	50	336	0.1488	-18	c.55 others(29): Show c.5544_*5561delTATATATATATATATATA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		2125		chr11	TogoVar
CEP126_chr11_101910010_102006062	102004895	CATATATA others(11): Show CATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00673.hp2 others(32): Show HG00408.hp1 HG00621.hp2 HG00673.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp2 HG01993.hp1 HG02083.hp2 HG02109.hp2 HG02523.hp1 HG02723.hp1 HG02922.hp2 HG03130.hp1 HG03471.hp2 HG03942.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18969.hp2 NA18972.hp1 NA18980.hp1 NA18987.hp2 NA18991.hp2 NA18995.hp2 NA19005.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19070.hp1 NA19076.hp1 NA19078.hp1 NA19084.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0054 a0001c0001t0056 a0001c0001t0063	a0001c0001t0002g0117 a0001c0001t0002g0182 a0001c0001t0002g0183 others(31): Show a0001c0001t0002g0117 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0226 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0258 a0001c0001t0002g0276 a0001c0001t0002g0291 a0001c0001t0004g0001 a0001c0001t0004g0191 a0001c0001t0004g0211 a0001c0001t0004g0281 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0297 a0001c0001t0009g0008 a0001c0001t0009g0300 a0001c0001t0009g0301 a0001c0001t0011g0240 a0001c0001t0015g0035 a0001c0001t0017g0152 a0001c0001t0022g0273 a0001c0001t0023g0282 a0001c0001t0024g0190 a0001c0001t0024g0257 a0001c0001t0054g0185 a0001c0001t0056g0186 a0001c0001t0063g0131	35	336	0.1042	-18	c.72 others(29): Show c.7253_*7270delATATATATATATATATAT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3834		chr11	TogoVar
CEP128_chr14_80491479_80946738	80647037	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02976.hp2 HG01243.hp2 HG02145.hp1 HG02976.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0014 a0002c0002 a0006c0007 a0001c0014 a0002c0002 a0006c0007	a0001c0014t0003 a0002c0002t0003 a0006c0007t0002 a0001c0014t0003 a0002c0002t0003 a0006c0007t0002	a0001c0014t0003g0151 a0002c0002t0003g0062 a0006c0007t0002g0135 a0001c0014t0003g0151 a0002c0002t0003g0062 a0006c0007t0002g0135	3	164	0.0183	-18	c.280 others(39): Show c.2807-66632_2807-66615delTATATATATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656275	TTATTTAT others(11): Show TTATTTATATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02602.hp1 HG03669.hp1 others(3): Show HG01192.hp2 HG02602.hp1 HG03669.hp1 NA18960.hp1 NA19072.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0003c0003t0006	a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0002g0107 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0002g0107 a0001c0001t0005g0002 a0001c0001t0006g0101 a0003c0003t0006g0116	6	164	0.0366	-18	c.280 others(39): Show c.2807-75870_2807-75853delTAAATATATATATAAATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656279	TTATATAT others(11): Show TTATATATATATTTATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp1 NA19043.hp2 HG01243.hp2 HG02970.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0005 a0006c0007t0002 a0001c0001t0005 a0006c0007t0002	a0001c0001t0005g0052 a0001c0001t0005g0058 a0006c0007t0002g0135 a0001c0001t0005g0052 a0001c0001t0005g0058 a0006c0007t0002g0135	3	164	0.0183	-18	c.280 others(39): Show c.2807-75874_2807-75857delTATATAAATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02922.hp2 others(2): Show HG02572.hp2 HG02818.hp1 HG02922.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0005g0014 others(2): Show a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0005g0014 a0001c0001t0005g0053 a0001c0001t0005g0054	5	164	0.0305	-18	c.280 others(39): Show c.2806+14001_2806+14018delACACACACACACACACCC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80732471	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0116 a0003c0003t0006g0116	1	164	0.0061	-18	c.280 others(39): Show c.2806+10586_2806+10603delACACACACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80733339	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp2 HG02818.hp1 others(5): Show HG01081.hp1 HG02572.hp2 HG02818.hp1 HG02886.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0015 a0005c0005 a0001c0001 a0001c0015 a0005c0005	a0001c0001t0001 a0001c0001t0005 a0001c0015t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0015t0001 a0005c0005t0001	a0001c0001t0001g0003 a0001c0001t0005g0004 a0001c0001t0005g0051 others(5): Show a0001c0001t0001g0003 a0001c0001t0005g0004 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0015t0001g0048 a0005c0005t0001g0055	8	164	0.0488	-18	c.280 others(37): Show c.2806+9718_2806+9735delACACACACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80880865	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03540.hp2 HG02109.hp1 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0017 a0001c0008t0005g0018 a0001c0008t0005g0017 a0001c0008t0005g0018	2	164	0.0122	-18	c.645 others(37): Show c.645+14835_645+14852delATTATTATTATTATTATT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	8/24			chr14	TogoVar
CEP135_chr4_55943945_56038361	56007124	TCTCAGGT others(11): Show TCTCAGGTGATCCACCTGC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0128 a0002c0002t0003g0128	1	346	0.0029	-18	c.228 others(37): Show c.2281-1197_2281-1180delGTGATCCACCTGCCTCAG	CEP135	ENSG00000174799.12	transcript	ENST00000257287.5	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP152_chr15_48732938_48816069	48765636	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp1 HG02630.hp1 HG03540.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0022 a0001c0009t0005g0023 a0001c0009t0005g0022 a0001c0009t0005g0023	2	342	0.0059	-18	c.228 others(37): Show c.2280+1406_2280+1423delAAAAAAAAAAAAAAAAAA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	17/26			chr15	TogoVar
CEP162_chr6_84119250_84232643	84134919	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0019 a0001c0011t0002g0020 a0001c0011t0002g0019 a0001c0011t0002g0020	2	214	0.0094	-18	c.387 others(37): Show c.3871-8425_3871-8408delGTGTGTGTGTGTGTGTGT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	25/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117406613	CGTACATG others(11): Show CGTACATGAAAGTCTTTTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0012 a0025c0029t0012	a0025c0029t0012g0079 a0025c0029t0012g0079	1	390	0.0026	-18	c.350 others(37): Show c.3502-1311_3502-1294delGTACATGAAAGTCTTTTG	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	27/32			chr11	TogoVar
CEP170B_chr14_104860268_104901747	104882447	AGAGGAGG others(11): Show AGAGGAGGGGCCAGGCAGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19043.hp2 HG01496.hp2 NA19043.hp2	a0001 a0001	a0001c0061 a0001c0062 a0001c0061 a0001c0062	a0001c0061t0017 a0001c0062t0002 a0001c0061t0017 a0001c0062t0002	a0001c0061t0017g0178 a0001c0062t0002g0177 a0001c0061t0017g0178 a0001c0062t0002g0177	2	328	0.0061	-18	c.473 others(33): Show c.473-262_473-245delGAGGAGGGGCCAGGCAGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104882466	GAGGAGGG others(11): Show GAGGAGGGGCCAGGCAGGC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp2 HG06807.hp2 HG03195.hp2 HG03453.hp2 HG06807.hp2	a0001 a0010 a0001 a0010	a0001c0065 a0010c0025 a0001c0065 a0010c0025	a0001c0065t0002 a0010c0025t0002 a0001c0065t0002 a0010c0025t0002	a0001c0065t0002g0268 a0010c0025t0002g0269 a0010c0025t0002g0270 a0001c0065t0002g0268 a0010c0025t0002g0269 a0010c0025t0002g0270	3	328	0.0092	-18	c.473 others(33): Show c.473-258_473-241delAGGGGCCAGGCAGGCAGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP20_chr16_15860719_15893603	15882761	ATCTATCT others(11): Show ATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	433	0.0023	-18	c.226 others(35): Show c.226+1229_226+1246delGATAGATAGATAGATAGA	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	2/4			chr16	TogoVar
CEP250_chr20_35450598_35524280	35471636	ACAGCACC others(11): Show ACAGCACCCATCCCCTATC	A A	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0202 a0001c0001t0030g0202	1	260	0.0039	-18	c.949 others(33): Show c.949-413_949-396delCAGCACCCATCCCCTATC	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding	10/34			chr20	TogoVar
CEP290_chr12_88044016_88147088	88052626	TGCATATA others(11): Show TGCATATATATACATACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0215 a0001c0003t0001g0215	1	234	0.0043	-18	c.712 others(37): Show c.7129+1008_7129+1025delGTGTATGTATATATATGC	CEP290	ENSG00000198707.17	transcript	ENST00000552810.6	protein_coding	52/53			chr12	TogoVar
CEP295_chr11_93656682_93735358	93711481	GTTTTGTT others(11): Show GTTTTGTTTTTGTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	354	0.0028	-18	c.574 others(37): Show c.5749+4606_5749+4623delTGTTTTTGTTTTTGTTTT	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	18/29		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP295_chr11_93656682_93735358	93712856	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03579.hp1 HG01099.hp1 HG03579.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0002 a0009c0017t0002	a0009c0017t0002g0310 a0009c0017t0002g0313 a0009c0017t0002g0310 a0009c0017t0002g0313	2	354	0.0057	-18	c.574 others(37): Show c.5749+5980_5749+5997delGTTGTTGTTGTTGTTGTT	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	18/29		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP350_chr1_179949810_180119875	180043772	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show HG00323.hp1 HG00738.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp2 HG03654.hp1	a0007 a0007	a0007c0008 a0007c0031 a0007c0008 a0007c0031	a0007c0008t0006 a0007c0008t0011 a0007c0031t0006 a0007c0008t0006 a0007c0008t0011 a0007c0031t0006	a0007c0008t0006g0013 a0007c0008t0006g0014 a0007c0008t0006g0015 others(3): Show a0007c0008t0006g0013 a0007c0008t0006g0014 a0007c0008t0006g0015 a0007c0008t0006g0018 a0007c0008t0011g0016 a0007c0031t0006g0017	6	248	0.0242	-18	c.450 others(35): Show c.4500-263_4500-246delGTGTGTGTGTGTGTGTGT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP57L1_chr6_109090507_109179418	109099525	CTTTTATT others(11): Show CTTTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19240.hp1 NA21309.hp2 HG02647.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0087 a0001c0001t0088 a0001c0001t0001 a0001c0001t0087 a0001c0001t0088	a0001c0001t0001g0158 a0001c0001t0087g0159 a0001c0001t0088g0160 a0001c0001t0001g0158 a0001c0001t0087g0159 a0001c0001t0088g0160	3	228	0.0132	-18	c.-4+ others(33): Show c.-4+3973_-4+3990delATTTATTTATTTATTTTT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109120912	GCACACAC others(11): Show GCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02451.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0179 a0001c0001t0019g0206 a0001c0001t0019g0179 a0001c0001t0019g0206	2	228	0.0088	-18	c.-3- others(35): Show c.-3-24278_-3-24261delCACACACACACACACACA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109142946	GCTCTCTC others(11): Show GCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02818.hp1 others(4): Show HG02258.hp1 HG02723.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03831.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0020 a0001c0001t0043 a0001c0001t0051	a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0158 others(4): Show a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0017g0130 a0001c0001t0020g0194 a0001c0001t0043g0067 a0001c0001t0051g0134	7	228	0.0307	-18	c.-3- others(33): Show c.-3-2231_-3-2214delTCTCTCTCTCTCTCTCTC	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109177637	AATATATA others(11): Show AATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	228	0.0044	-18	c.14 others(31): Show c.14668_*14685delATATATATATATATATAT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3220		chr6	TogoVar
CEP63_chr3_134481057_134570031	134551738	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp2 HG02622.hp1 others(1): Show HG01123.hp2 HG02055.hp2 HG02622.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0021 a0001c0001t0012 a0001c0001t0021	a0001c0001t0012g0105 a0001c0001t0012g0106 a0001c0001t0012g0107 others(1): Show a0001c0001t0012g0105 a0001c0001t0012g0106 a0001c0001t0012g0107 a0001c0001t0021g0108	4	322	0.0124	-18	c.138 others(35): Show c.1381-186_1381-169delTATATATATATATATACA	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP85L_chr6_118455772_118656591	118491194	TATACACA others(11): Show TATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0185 a0002c0002t0026g0185	1	302	0.0033	-18	c.143 others(35): Show c.1437+474_1437+491delGTGTGTGTGTGTGTGTAT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	6/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567209	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0019 a0007c0007t0019	a0007c0007t0019g0299 a0007c0007t0019g0299	1	302	0.0033	-18	c.233 others(33): Show c.233-911_233-894delCACACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567233	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0041 a0004c0004t0006g0041	1	302	0.0033	-18	c.233 others(33): Show c.233-935_233-918delTACACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567235	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18966.hp1 NA18981.hp2 others(1): Show HG00544.hp1 NA18966.hp1 NA18981.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0140 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0163	4	302	0.0133	-18	c.233 others(33): Show c.233-937_233-920delTATACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567237	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	302	0.0033	-18	c.233 others(33): Show c.233-939_233-922delTATATACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567239	GTGTGTGT others(11): Show GTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp1 HG02965.hp2 HG03130.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0011 a0007c0007t0011	a0007c0007t0011g0253 a0007c0007t0011g0254 a0007c0007t0011g0253 a0007c0007t0011g0254	2	302	0.0066	-18	c.233 others(33): Show c.233-941_233-924delTATATATACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567241	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0249 a0002c0002t0002g0249	1	302	0.0033	-18	c.233 others(33): Show c.233-943_233-926delTATATATATACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26282328	AGGGACTG others(11): Show AGGGACTGGGGCCGGGACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	342	0.0029	-18	c.50 others(29): Show c.5036_*5053delGGGACTGGGGCCGGGACC	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3521		chr1	TogoVar
CEP85_chr1_26229200_26283808	26282344	ACCGGGAC others(11): Show ACCGGGACCGGGACTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(24): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00733.hp1 HG00741.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02004.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03195.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp2 NA19030.hp2 NA19080.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0003c0005 a0003c0007 others(2): Show a0003c0003 a0003c0005 a0003c0007 a0003c0008 a0010c0017	a0003c0003t0004 a0003c0003t0006 a0003c0005t0004 others(3): Show a0003c0003t0004 a0003c0003t0006 a0003c0005t0004 a0003c0007t0004 a0003c0008t0004 a0010c0017t0004	a0003c0003t0004g0300 a0003c0003t0004g0301 a0003c0003t0004g0302 others(24): Show a0003c0003t0004g0300 a0003c0003t0004g0301 a0003c0003t0004g0302 a0003c0003t0004g0303 a0003c0003t0004g0304 a0003c0003t0004g0305 a0003c0003t0004g0307 a0003c0003t0004g0310 a0003c0003t0004g0311 a0003c0003t0004g0312 a0003c0003t0004g0313 a0003c0003t0004g0314 a0003c0003t0004g0317 a0003c0003t0004g0319 a0003c0003t0004g0325 a0003c0003t0006g0093 a0003c0003t0006g0094 a0003c0003t0006g0095 a0003c0003t0006g0096 a0003c0005t0004g0297 a0003c0005t0004g0322 a0003c0005t0004g0323 a0003c0007t0004g0320 a0003c0007t0004g0321 a0003c0008t0004g0308 a0003c0008t0004g0309 a0010c0017t0004g0306	27	342	0.0790	-18	c.50 others(29): Show c.5052_*5069delCCGGGACCGGGACTGGGG	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3537		chr1	TogoVar
CEP89_chr19_32870925_32976958	32892202	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00738.hp2 others(27): Show HG00099.hp2 HG00280.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG02698.hp1 HG02738.hp1 HG02922.hp2 HG03041.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA19030.hp2	a0000 a0001 a0000 a0001	a0000c0005 a0001c0002 a0000c0005 a0001c0002	a0000c0005t0005 a0000c0005t0019 a0000c0005t0020 others(3): Show a0000c0005t0005 a0000c0005t0019 a0000c0005t0020 a0000c0005t0041 a0000c0005t0042 a0001c0002t0010	a0000c0005t0005g0097 a0000c0005t0005g0098 a0000c0005t0005g0099 others(27): Show a0000c0005t0005g0097 a0000c0005t0005g0098 a0000c0005t0005g0099 a0000c0005t0005g0100 a0000c0005t0005g0101 a0000c0005t0005g0102 a0000c0005t0005g0103 a0000c0005t0005g0104 a0000c0005t0005g0106 a0000c0005t0005g0108 a0000c0005t0005g0110 a0000c0005t0005g0112 a0000c0005t0005g0115 a0000c0005t0005g0116 a0000c0005t0005g0117 a0000c0005t0005g0119 a0000c0005t0005g0120 a0000c0005t0005g0164 a0000c0005t0005g0268 a0000c0005t0005g0269 a0000c0005t0019g0113 a0000c0005t0019g0114 a0000c0005t0020g0107 a0000c0005t0020g0121 a0000c0005t0041g0111 a0000c0005t0042g0109 a0001c0002t0010g0149 a0001c0002t0010g0376 a0001c0002t0010g0377 a0001c0002t0010g0378	30	386	0.0777	-18	c.187 others(37): Show c.1876-4379_1876-4362delATATATATATATATATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	16/18			chr19	TogoVar
CERKL_chr2_181531672_181662105	181568318	TTATGTAT others(11): Show TTATGTATACCTTCAAATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0047 a0009c0013t0001g0047	1	298	0.0034	-18	c.614 others(35): Show c.614-2215_614-2198delTATTTGAAGGTATACATA	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	3/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181594342	ATATAAAA others(11): Show ATATAAAAGAGTAAGTGCC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0261 a0001c0001t0015g0261	1	298	0.0034	-18	c.481 others(35): Show c.481+9477_481+9494delGGCACTTACTCTTTTATA	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	2/12			chr2	TogoVar
CERK_chr22_46679410_46743252	46702221	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG01168.hp2 others(14): Show HG00733.hp1 HG00738.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG02109.hp2 HG02280.hp1 HG02615.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp2 NA19043.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0009c0030	a0001c0001t0010 a0001c0002t0031 a0001c0004t0017 others(5): Show a0001c0001t0010 a0001c0002t0031 a0001c0004t0017 a0001c0004t0020 a0001c0007t0016 a0001c0009t0020 a0001c0010t0048 a0009c0030t0016	a0001c0001t0010g0001 a0001c0002t0031g0279 a0001c0004t0017g0228 others(12): Show a0001c0001t0010g0001 a0001c0002t0031g0279 a0001c0004t0017g0228 a0001c0004t0017g0229 a0001c0004t0017g0260 a0001c0004t0020g0041 a0001c0007t0016g0201 a0001c0007t0016g0202 a0001c0007t0016g0203 a0001c0007t0016g0259 a0001c0009t0020g0158 a0001c0009t0020g0162 a0001c0009t0020g0163 a0001c0010t0048g0084 a0009c0030t0016g0187	17	340	0.0500	-18	c.716 others(33): Show c.716-529_716-512delCACACACACACACACATA	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	6/12			chr22	TogoVar
CERK_chr22_46679410_46743252	46724049	TTCCACCT others(11): Show TTCCACCTCCTCCGTCTTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0185 a0001c0003t0030g0185	1	340	0.0029	-18	c.143 others(35): Show c.143-3052_143-3035delGAAGACGGAGGAGGTGGA	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	1/12			chr22	TogoVar
CERS3_chr15_100395395_100533950	100494210	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02451.hp2 others(1): Show HG01167.hp1 HG01169.hp1 HG02451.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0170 a0002c0002t0006g0101 a0002c0002t0006g0102 others(1): Show a0001c0001t0001g0170 a0002c0002t0006g0101 a0002c0002t0006g0102 a0002c0002t0006g0108	4	362	0.0111	-18	c.174 others(35): Show c.174-3297_174-3280delATATATATATATATATAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100494241	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01192.hp2 HG01928.hp2 others(8): Show HG00673.hp1 HG01192.hp2 HG01928.hp2 HG01975.hp2 HG02273.hp1 HG02451.hp1 HG03209.hp2 NA18945.hp1 NA18983.hp2 NA19062.hp1 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0003c0010	a0001c0001t0002 a0001c0003t0005 a0001c0003t0007 others(2): Show a0001c0001t0002 a0001c0003t0005 a0001c0003t0007 a0003c0004t0011 a0003c0010t0005	a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0111 others(8): Show a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0111 a0001c0001t0002g0294 a0001c0003t0005g0326 a0001c0003t0005g0327 a0001c0003t0005g0328 a0001c0003t0005g0330 a0001c0003t0007g0359 a0003c0004t0011g0323 a0003c0010t0005g0329	11	362	0.0304	-18	c.174 others(35): Show c.174-3328_174-3311delAATATATATATATATATA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100497852	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01975.hp1 NA18945.hp1 others(5): Show HG01074.hp1 HG01975.hp1 NA18945.hp1 NA18963.hp1 NA18968.hp2 NA19072.hp1 NA19083.hp2 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0022 a0001c0003t0007 a0001c0003t0022	a0001c0003t0007g0353 a0001c0003t0007g0354 a0001c0003t0007g0355 others(5): Show a0001c0003t0007g0353 a0001c0003t0007g0354 a0001c0003t0007g0355 a0001c0003t0007g0356 a0001c0003t0007g0357 a0001c0003t0007g0359 a0001c0003t0007g0361 a0001c0003t0022g0360	8	362	0.0221	-18	c.173 others(35): Show c.173+3807_173+3824delGTGTGTGTGTGTGTGTGT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11			chr15	TogoVar
CERS6_chr2_168451272_168780134	168574370	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02055.hp2 HG02257.hp2 others(15): Show HG00735.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02895.hp1 HG02895.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0024 a0001c0001t0037 a0001c0002t0002 a0001c0002t0003 a0001c0002t0028 a0001c0004t0029	a0001c0001t0001g0158 a0001c0001t0004g0046 a0001c0001t0004g0049 others(15): Show a0001c0001t0001g0158 a0001c0001t0004g0046 a0001c0001t0004g0049 a0001c0001t0006g0116 a0001c0001t0007g0051 a0001c0001t0007g0105 a0001c0001t0008g0048 a0001c0001t0008g0083 a0001c0001t0009g0044 a0001c0001t0012g0050 a0001c0001t0012g0110 a0001c0001t0018g0079 a0001c0001t0024g0053 a0001c0001t0037g0084 a0001c0002t0002g0076 a0001c0002t0003g0077 a0001c0002t0028g0075 a0001c0004t0029g0005	18	176	0.1023	-18	c.407 others(37): Show c.407+13076_407+13093delGTGTGTGTGTGTGTGTGT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645140	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0115 a0001c0001t0038g0115	1	176	0.0057	-18	c.465 others(37): Show c.465+14100_465+14117delTAGAGAGAGAGAGAGAGA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75388599	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01192.hp2 others(37): Show HG00642.hp1 HG00735.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0003c0004t0003	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 others(37): Show a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0192 a0001c0001t0003g0242 a0001c0001t0003g0246 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0002t0004g0008 a0003c0004t0003g0179	40	336	0.1191	-18	c.128 others(35): Show c.1284+975_1284+992delATATATATATATATATAT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	12/16			chr5	TogoVar
CETN1_chr18_575380_587114	576444	GAGAGGAA others(11): Show GAGAGGAAGGAAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0000 a0001c0001t0015g0000	1	422	0.0024	-18	c.-39 others(29): Show c.-3964_-3947delAGAGGAAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3935		chr18	TogoVar
CFAP100_chr3_126389909_126441556	126401397	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01257.hp1 others(38): Show HG00735.hp1 HG01074.hp1 HG01257.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01952.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02273.hp1 HG02293.hp2 HG02602.hp1 HG02738.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03704.hp1 HG03942.hp2 HG04204.hp1 NA18939.hp2 NA18940.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18954.hp2 NA18974.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19060.hp2 NA19063.hp2 NA19067.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0025 others(1): Show a0001c0001 a0001c0002 a0001c0025 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0025t0001 a0003c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0062 a0001c0001t0001g0151 others(36): Show a0001c0001t0001g0014 a0001c0001t0001g0062 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0292 a0001c0002t0001g0359 a0001c0002t0001g0364 a0001c0002t0001g0368 a0001c0002t0001g0387 a0001c0002t0001g0388 a0001c0002t0001g0391 a0001c0002t0004g0024 a0001c0025t0001g0044 a0003c0005t0001g0149	41	422	0.0972	-18	c.49+ others(33): Show c.49+5377_49+5394delTATATATATATATATATA	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01256.hp1 others(12): Show HG00408.hp1 HG00438.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01952.hp1 HG02273.hp1 HG02486.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03486.hp1 NA19074.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0027 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109	15	372	0.0403	-18	c.74+ others(33): Show c.74+2408_74+2425delATATATATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar

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