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
CFAP20_chr16_58108592_58134381	58129772	G G	GCGGACGC others(19): Show GCGGACGCCCAACACATGCTTGTCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG01099.hp1 others(24): Show HG00099.hp1 HG00673.hp2 HG01099.hp1 HG01099.hp2 HG01981.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02683.hp1 HG02965.hp2 HG03927.hp2 NA18946.hp2 NA18954.hp2 NA18963.hp1 NA18965.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19056.hp2 NA19057.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0013 a0001c0001t0002g0026 a0001c0001t0002g0037 others(12): Show a0001c0001t0002g0013 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0068 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0006g0036 a0001c0001t0006g0172	27	400	0.0675	26	c.-65 others(35): Show c.-658_-657insGCCGACAAGCATGTGTTGGGCGTCCG	CFAP20	ENSG00000070761.8	transcript	ENST00000262498.8	protein_coding		392		chr16	TogoVar
CFAP251_chr12_121913592_122008919	121998432	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0295 a0002c0004t0001g0295	1	354	0.0028	26	c.300 others(45): Show c.3007-1253_3007-1228dupATATATATATATATATATATATATAT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP298_chr21_32594354_32617377	32611318	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0080 a0001c0001t0017g0080	1	416	0.0024	26	c.139 others(41): Show c.139+786_139+787insATATATATATATATATATATATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611351	T T	TATATATA others(19): Show TATATATATATATATATATAATTTATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0051 a0003c0007t0003g0051	1	416	0.0024	26	c.139 others(41): Show c.139+753_139+754insTATAAATTATATATATATATATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01243.hp1 others(8): Show HG00639.hp2 HG01109.hp2 HG01243.hp1 HG02258.hp2 HG02965.hp1 HG03041.hp1 NA18522.hp1 NA18906.hp2 NA18950.hp1 NA19043.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0002g0051 a0001c0003t0001g0035 a0001c0004t0001g0022 a0002c0002t0001g0002	11	96	0.1146	26	c.242 others(43): Show c.242+1209_242+1234dupCACACACACACACACACACACACACA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80390730	T T	TATATGTA others(19): Show TATATGTATATATGTATATATACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	96	0.0104	26	c.242 others(45): Show c.242+27870_242+27895dupCACATATGTATATATGTATATATACA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80581453	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	96	0.0104	26	c.243 others(43): Show c.243-1629_243-1604dupATATATATATATATATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80695418	G G	GCCATTTT others(19): Show GCCATTTTCAATAGATACCTTCACTAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	96	0.0104	26	c.333 others(47): Show c.333+112239_333+112264dupTTTTCAATAGATACCTTCACTACC CA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80789156	T T	TGAATAGC others(19): Show TGAATAGCTGTTATCTCTATAAAAATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03017.hp2 HG01109.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0035 a0002c0002t0001g0001 a0001c0003t0001g0035 a0002c0002t0001g0001	2	96	0.0208	26	c.334 others(45): Show c.334-80822_334-80821insCTATAAAAATAGAATAGCTGTTATCT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80800523	T T	TTGATATA others(19): Show TTGATATATTAATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	96	0.0104	26	c.334 others(45): Show c.334-69470_334-69469insTGATATATTAATATAATATATATATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP299_chr4_80330730_80968750	80916252	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0088 a0002c0006t0001g0088	1	96	0.0104	26	c.477 others(45): Show c.477-28539_477-28514dupATATATATATATATATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP36_chr2_55514718_55550079	55516654	A A	ACATATCT others(19): Show ACATATCTTTAACATTAAAATTTGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01168.hp2 HG01169.hp1 others(42): Show HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp2 NA18979.hp1 NA18984.hp2 NA19002.hp2 NA19030.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0044 a0003c0003t0001g0045 others(20): Show a0003c0003t0001g0003 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0186 a0003c0003t0001g0187	45	400	0.1125	26	c.-31 others(37): Show c.-3148_-3147insCATATCTTTAACATTAAAATTTGTTC	CFAP36	ENSG00000163001.12	transcript	ENST00000349456.9	protein_coding		3063		chr2	TogoVar
CFAP410_chr21_44323944_44344390	44334522	C C	CCCTCAAC others(19): Show CCCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp1 NA18984.hp2 HG02976.hp2 HG03453.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0013t0001 a0001c0001t0001 a0001c0002t0002 a0001c0013t0001	a0001c0001t0001g0115 a0001c0002t0002g0286 a0001c0013t0001g0058 a0001c0001t0001g0115 a0001c0002t0002g0286 a0001c0013t0001g0058	3	436	0.0069	26	c.143 others(43): Show c.143+1235_143+1236insTGCGCGTGCCCGCCCAGAGGTTGAGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP44_chr3_113281930_113446493	113320416	T T	TATATATT others(19): Show TATATATTGATATATATGATATATGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG03579.hp2 others(1): Show HG02572.hp2 HG02809.hp2 HG03579.hp2 NA19030.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0023 a0009c0011t0033 a0009c0011t0047 a0009c0011t0023 a0009c0011t0033 a0009c0011t0047	a0009c0011t0023g0026 a0009c0011t0033g0024 a0009c0011t0033g0025 others(1): Show a0009c0011t0023g0026 a0009c0011t0033g0024 a0009c0011t0033g0025 a0009c0011t0047g0172	4	348	0.0115	26	c.451 others(45): Show c.4516+6028_4516+6029insCACATATATCATATATATCAATATAT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar
CFAP45_chr1_159867364_159905165	159878766	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	410	0.0024	26	c.104 others(45): Show c.1045-1305_1045-1304insGTTTTTTTTTTTTTTTTTTTTTTTTT	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	8/11			chr1	TogoVar
CFAP47_chrX_35914734_36390317	35960380	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0003 a0018c0022t0001g0003	1	216	0.0046	26	c.141 others(45): Show c.1410+4186_1410+4211dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36027124	A A	ATGATTAT others(19): Show ATGATTATATATATGATTATATATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0024 a0024	a0024c0025 a0024c0025	a0024c0025t0005 a0024c0025t0005	a0024c0025t0005g0182 a0024c0025t0005g0182	1	216	0.0046	26	c.355 others(45): Show c.3557-4116_3557-4115insGATTATATATATGTGATTATATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	22/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371631	T T	TATATACA others(19): Show TATATACACACATGTGTGTACGTGTGC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0175 a0006c0008t0001g0175	1	216	0.0046	26	c.918 others(45): Show c.9185+4516_9185+4517insGTGTGTACGTGTGCATATACACACAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371986	A A	ATATGTAT others(19): Show ATATGTATGTGTATATATGTGTGTATC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0024 a0024	a0024c0025 a0024c0025	a0024c0025t0005 a0024c0025t0005	a0024c0025t0005g0182 a0024c0025t0005g0182	1	216	0.0046	26	c.918 others(45): Show c.9185+4865_9185+4890dupATGTGTATATATGTGTGTATCTATGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631020	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	316	0.0032	26	c.117 others(45): Show c.1175-1865_1175-1864insGAGAGAGAGAGAGAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	316	0.0032	26	c.117 others(45): Show c.1175-1857_1175-1856insAAGAAAGAGAGAGAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631044	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0315 a0004c0006t0001g0315	1	316	0.0032	26	c.117 others(45): Show c.1175-1843_1175-1842insAAGAAAGAAAGAAAGAAAGAAAGAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631048	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0224 a0002c0001t0001g0224	1	316	0.0032	26	c.117 others(45): Show c.1175-1839_1175-1838insAAGAAAGAAAGAAAGAAAGAAAGAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(19): Show GAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0278	1	316	0.0032	26	c.117 others(45): Show c.1175-1833_1175-1832insGAGAGAAAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG02074.hp2 HG00639.hp2 HG01081.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0124 a0001c0002t0001g0226 a0001c0002t0001g0227	3	316	0.0095	26	c.117 others(45): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631082	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0163 a0002c0001t0001g0163	1	316	0.0032	26	c.117 others(45): Show c.1175-1805_1175-1804insAAGAAAGAAAGAAAGAAAGAAAGAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01346.hp2 others(5): Show HG01074.hp2 HG01167.hp1 HG01346.hp2 HG02145.hp1 NA18964.hp2 NA18977.hp1 NA18988.hp1 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0249 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0249 a0001c0001t0001g0250 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0132 a0002c0002t0001g0146	8	402	0.0199	26	c.131 others(45): Show c.1316+1273_1316+1274insATATATATATATATATATTTTTTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18942.hp1 NA19060.hp2 others(1): Show HG01109.hp2 NA18942.hp1 NA19060.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0063 a0001c0001t0001g0102 a0002c0002t0001g0142 others(1): Show a0001c0001t0001g0063 a0001c0001t0001g0102 a0002c0002t0001g0142 a0002c0002t0001g0155	4	402	0.0100	26	c.131 others(45): Show c.1316+1273_1316+1274insATATATATATATATATATATTTTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02040.hp1 HG02040.hp2 others(6): Show HG00323.hp2 HG02040.hp1 HG02040.hp2 HG02630.hp2 HG02698.hp2 HG03688.hp2 HG04199.hp2 NA18954.hp2 NA19077.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0089 a0001c0001t0001g0365 others(6): Show a0001c0001t0001g0033 a0001c0001t0001g0089 a0001c0001t0001g0365 a0002c0002t0001g0077 a0002c0002t0001g0140 a0002c0002t0001g0159 a0003c0003t0001g0228 a0003c0003t0001g0243 a0003c0003t0001g0254	9	402	0.0224	26	c.131 others(45): Show c.1316+1273_1316+1274insATATATATATATATATATATATTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01981.hp1 NA18965.hp1 HG01952.hp1 HG01981.hp1 NA18965.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0258 a0002c0002t0001g0145 a0003c0003t0001g0247 a0001c0001t0001g0258 a0002c0002t0001g0145 a0003c0003t0001g0247	3	402	0.0075	26	c.131 others(45): Show c.1316+1273_1316+1274insATATATATATATATATATATATATTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237351	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0226 a0003c0003t0001g0226	1	402	0.0025	26	c.131 others(45): Show c.1316+1251_1316+1252insGTATATATATATATATATATATATAT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96486137	T T	TTTTCTTT others(19): Show TTTTCTTTTCTTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA18989.hp2 NA19063.hp2 HG03130.hp2 NA18989.hp2 NA19063.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0003t0002g0172 a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0003t0002g0172	3	268	0.0112	26	c.-34 others(37): Show c.-3473_-3472insTTTCTTTTCTTTTCTTTCTTTCTTTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		3439		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96825284	T T	TATATAAT others(19): Show TATATAATATAATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG03139.hp1 others(1): Show HG01891.hp1 HG02451.hp2 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088	4	268	0.0149	26	c.909 others(45): Show c.9097-3719_9097-3694dupATATATTATATATATAATATAATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP61_chr20_20047532_20365698	20269152	C C	CACACACA others(19): Show CACACACACACATACATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA21309.hp1 HG02622.hp2 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0003 a0004c0008t0001 a0002c0002t0003 a0004c0008t0001	a0002c0002t0003g0066 a0004c0008t0001g0055 a0002c0002t0003g0066 a0004c0008t0001g0055	2	236	0.0085	26	c.250 others(45): Show c.2503+6033_2503+6034insTACATATATGTATATACACACACACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20269184	C C	CACACATA others(19): Show CACACATATATACATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0083 a0002c0002t0003g0083	1	236	0.0042	26	c.250 others(45): Show c.2503+6082_2503+6107dupCACATATATACATATATGTATATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(19): Show ATATATATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01192.hp1 HG01891.hp2 others(35): Show HG00597.hp1 HG01192.hp1 HG01891.hp2 HG01934.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02257.hp1 HG02300.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG03209.hp2 HG03239.hp2 HG03942.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18974.hp1 NA18979.hp2 NA18982.hp2 NA18992.hp2 NA19003.hp2 NA19007.hp2 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0019 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0007g0001 a0002c0003t0001g0001	38	392	0.0969	26	c.28 others(37): Show c.2882_*2883insTATATATGTATGTATGTATATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATGTAT others(19): Show ATATGTATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG03017.hp1 NA18957.hp2 HG02015.hp2 HG03017.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	392	0.0077	26	c.28 others(37): Show c.2882_*2883insTATGTATGTATGTATGTATATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar
CFAP69_chr7_90240174_90316063	90250187	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	338	0.0030	26	c.120 others(43): Show c.120+4666_120+4691dupGAGAGAGAGAGAGAGAGAGAGAGAGA	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP70_chr10_73248762_73363864	73316463	G G	GATATATA others(19): Show GATATATATATATATATAGATATATCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	220	0.0046	26	c.112 others(45): Show c.1123-3821_1123-3820insAGATATATCTATATATATATATATAT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	10/27			chr10	TogoVar
CFAP74_chr1_1916957_2008786	1952610	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0055 a0055	a0055c0097 a0055c0097	a0055c0097t0002 a0055c0097t0002	a0055c0097t0002g0085 a0055c0097t0002g0085	1	278	0.0036	26	c.217 others(45): Show c.2176+3080_2176+3081insTTCTTTCTTTCTTTCTTTCTTTCTTT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132429927	G G	GAGAGGCT others(19): Show GAGAGGCTCAGTTAACCTTGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	322	0.0031	26	c.195 others(45): Show c.195+19478_195+19503dupTTGGAAGGGAAGAGGCTCAGTTAACC	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP91_chr3_119698022_119772102	119707732	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	386	0.0026	26	c.359 others(41): Show c.359+188_359+189insTATATATATATATATATATATATATA	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP91_chr3_119698022_119772102	119738332	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	386	0.0026	26	c.146 others(43): Show c.1461+859_1461+884dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP92_chr3_128904873_128999076	128932378	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04228.hp1 HG04204.hp2 HG04228.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0312 a0002c0004t0002g0316 a0002c0004t0002g0312 a0002c0004t0002g0316	2	342	0.0059	26	c.275 others(43): Show c.2751+321_2751+322insGTGTGTGTGTGTGTGTGTGTGTGTGT	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	12/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128932397	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0320 a0002c0004t0002g0320	1	342	0.0029	26	c.275 others(43): Show c.2751+302_2751+303insCGTGTGTGTGTGTGTGTGTGTGTGTG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	12/15			chr3	TogoVar
CFAP95_chr9_69815817_69911227	69816984	G G	GTGTAACA others(19): Show GTGTAACAGGAAGTAGTAACAGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02965.hp1 others(1): Show HG02486.hp2 HG02647.hp1 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0219 a0001c0001t0001g0220 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222	4	380	0.0105	26	c.-38 others(37): Show c.-3896_-3895insTGTAACAGGAAGTAGTAACAGGAAGA	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding		3832		chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp1 HG03710.hp1 others(4): Show HG02647.hp2 HG03041.hp1 HG03710.hp1 HG03710.hp2 NA18950.hp1 NA19064.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0204 a0001c0001t0001g0330 a0001c0001t0001g0353 others(4): Show a0001c0001t0001g0204 a0001c0001t0001g0330 a0001c0001t0001g0353 a0001c0001t0001g0364 a0001c0002t0001g0291 a0001c0002t0001g0343 a0001c0002t0001g0347	7	380	0.0184	26	c.153 others(43): Show c.153-3345_153-3320dupATATATATATATATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02004.hp1 NA18995.hp1 others(5): Show HG00423.hp2 HG02004.hp1 NA18995.hp1 NA19001.hp2 NA19054.hp1 NA19081.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 others(5): Show a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132	8	380	0.0211	26	c.153 others(43): Show c.153-3352_153-3351insTTATATATATATATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843505	C C	CCCCCCCC others(19): Show CCCCCCCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	380	0.0026	26	c.153 others(43): Show c.153-1010_153-1009insCCCCCTCCTCCTCCTCCTCCTCCTCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D2_chr13_114174257_114228085	114225560	G G	GGGGAAGG others(19): Show GGGGAAGGAGGGGGAGGGAAAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	400	0.0025	26	c.30 others(37): Show c.3053_*3054insGGGAAGGAGGGGGAGGGAAAGGGGGA	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding		2476		chr13	TogoVar

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