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
CFAP299_chr4_80330730_80968750	80390920	C C	CATATATG others(3): Show CATATATGCAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02922.hp1 others(1): Show HG01109.hp2 HG02486.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0003t0002 a0001c0009t0002 a0001c0003t0001 a0001c0003t0002 a0001c0009t0002	a0001c0003t0001g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 others(1): Show a0001c0003t0001g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0009t0002g0015	4	96	0.0417	10	c.242 others(29): Show c.242+28040_242+28041insATGCATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80504462	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18984.hp2 NA19005.hp2 NA18950.hp1 NA18984.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0080 a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0080	3	96	0.0313	10	c.243 others(29): Show c.243-78596_243-78587dupATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80512221	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	96	0.0104	10	c.243 others(29): Show c.243-70858_243-70849dupTGTGTGTGTG	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80572507	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG03130.hp2 others(1): Show HG02258.hp1 HG02451.hp2 HG03130.hp2 NA18957.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0054 a0001c0003t0001g0093 a0002c0002t0001g0067 others(1): Show a0001c0001t0001g0054 a0001c0003t0001g0093 a0002c0002t0001g0067 a0002c0002t0001g0068	4	96	0.0417	10	c.243 others(29): Show c.243-10567_243-10558dupTTTTTTTTTT	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(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02895.hp2 HG03540.hp1 HG02523.hp1 HG02895.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0004t0001 a0002c0005t0001 a0001c0001t0001 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0039 a0001c0004t0001g0065 a0002c0005t0001g0058 a0001c0001t0001g0039 a0001c0004t0001g0065 a0002c0005t0001g0058	3	96	0.0313	10	c.243 others(27): Show c.243-1613_243-1604dupATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80651280	T T	TCTCTCTC others(3): Show TCTCTCTCTTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02451.hp1 others(7): Show HG01243.hp1 HG02280.hp1 HG02451.hp1 HG02647.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0003t0001g0089 a0002c0002t0001g0028	10	96	0.1042	10	c.333 others(29): Show c.333+68106_333+68115dupTACTCTCTCT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80651704	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02897.hp1 others(1): Show HG01109.hp2 HG02451.hp1 HG02897.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0031 a0001c0003t0001g0035 a0002c0002t0001g0001 others(1): Show a0001c0001t0001g0031 a0001c0003t0001g0035 a0002c0002t0001g0001 a0002c0002t0001g0028	4	96	0.0417	10	c.333 others(29): Show c.333+68547_333+68556dupGTGTGTGTGT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80669133	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0082 a0002c0006t0001g0082	1	96	0.0104	10	c.333 others(29): Show c.333+85953_333+85954insTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80669137	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	96	0.0104	10	c.333 others(29): Show c.333+85957_333+85958insTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80866059	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02040.hp1 HG02258.hp1 others(4): Show HG01109.hp1 HG02040.hp1 HG02258.hp1 HG03225.hp1 NA18522.hp2 NA18984.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0003t0001g0081 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0003t0001g0081 a0001c0003t0001g0086 a0001c0003t0001g0093 a0002c0002t0001g0008 a0002c0002t0001g0012	7	96	0.0729	10	c.334 others(27): Show c.334-3906_334-3897dupATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80866059	T T	TTTTTTAT others(3): Show TTTTTTATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	96	0.0104	10	c.334 others(27): Show c.334-3933_334-3932insTTTTATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80868905	C C	CTCTCTCT others(3): Show CTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0071 a0002c0005t0001g0071	1	96	0.0104	10	c.334 others(27): Show c.334-1087_334-1086insCTCTCTGTGT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80880727	A A	AAAAATAA others(3): Show AAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0030 a0001c0003t0002g0090 a0001c0001t0002g0030 a0001c0003t0002g0090	2	96	0.0208	10	c.476 others(29): Show c.476+10613_476+10622dupAAAATAAAAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80891830	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0084 a0001c0003t0002g0084	1	96	0.0104	10	c.476 others(29): Show c.476+21705_476+21714dupAAAAAAAAAA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80900123	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02965.hp1 HG02976.hp1 others(5): Show HG00408.hp1 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001	a0001c0001t0001g0040 a0001c0001t0002g0051 a0002c0002t0001g0021 others(5): Show a0001c0001t0001g0040 a0001c0001t0002g0051 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0006t0001g0034	8	96	0.0833	10	c.476 others(29): Show c.476+30017_476+30026dupGTGTGTGTGT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80902586	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	96	0.0104	10	c.476 others(29): Show c.476+32482_476+32491dupACACACACAC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80902586	T T	TATATACA others(3): Show TATATACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18522.hp1 NA18906.hp2 HG00423.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0004t0001g0094 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0004t0001g0094	3	96	0.0313	10	c.476 others(29): Show c.476+32452_476+32453insTATACACACA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80902586	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	1	96	0.0104	10	c.476 others(29): Show c.476+32452_476+32453insTATATACACA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80902586	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	96	0.0104	10	c.476 others(29): Show c.476+32452_476+32453insTATATATACA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80916252	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03017.hp1 HG03540.hp1 others(4): Show HG02615.hp1 HG03017.hp1 HG03540.hp1 NA18950.hp2 NA18957.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0003c0008	a0001c0001t0001 a0001c0003t0002 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0002c0005t0001 a0003c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0054 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0077 a0001c0003t0002g0036 a0002c0005t0001g0058 a0003c0008t0001g0085	7	96	0.0729	10	c.477 others(29): Show c.477-28523_477-28514dupATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80924538	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp2 HG03041.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0067 a0002c0006t0001g0082 a0002c0002t0001g0067 a0002c0006t0001g0082	2	96	0.0208	10	c.477 others(29): Show c.477-20256_477-20247dupATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP300_chr11_102042437_102089554	102055361	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01169.hp1 others(39): Show HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01258.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02027.hp2 HG02080.hp2 HG02148.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03942.hp1 HG06807.hp1 NA18942.hp2 NA18943.hp1 NA18959.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp1 NA19010.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19074.hp2 NA19082.hp2 NA19084.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0005 a0002c0004t0003	a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0093 others(28): Show a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0093 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0113 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0002t0005g0110 a0002c0004t0003g0120	42	346	0.1214	10	c.193 others(27): Show c.193-3515_193-3506dupTTTTTTTTTT	CFAP300	ENSG00000137691.13	transcript	ENST00000434758.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP36_chr2_55514718_55550079	55521593	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18998.hp1 NA19055.hp2 NA18988.hp2 NA18998.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0141 a0001c0001t0001g0041 a0001c0001t0001g0141	3	400	0.0075	10	c.116 others(25): Show c.116-508_116-507insGTGTGTGTGT	CFAP36	ENSG00000163001.12	transcript	ENST00000349456.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP410_chr21_44323944_44344390	44324293	G G	GGCGAGTA others(3): Show GGCGAGTAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0044 a0003c0003t0002g0044	1	436	0.0023	10	c.59 others(21): Show c.5904_*5905insTCCTACTCGC	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding		4650		chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(3): Show ACCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19085.hp2 HG02132.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0001g0138 a0001c0001t0001g0174	2	436	0.0046	10	c.143 others(27): Show c.143+1231_143+1240dupGGGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP418_chr8_95239913_95274201	95244596	T T	TACACACA others(3): Show TACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02074.hp1 NA18747.hp2 others(1): Show HG00544.hp1 HG02074.hp1 NA18747.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0081 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0081	4	388	0.0103	10	c.30 others(21): Show c.3020_*3021insGTGTGTGTGT	CFAP418	ENSG00000156172.6	transcript	ENST00000286688.6	protein_coding		316		chr8	TogoVar
CFAP418_chr8_95239913_95274201	95268751	C C	CGGGCGGG others(3): Show CGGGCGGGGCG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01361.hp2 HG01891.hp1 others(4): Show HG01256.hp2 HG01361.hp2 HG01891.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0005g0029	7	388	0.0180	10	c.155 others(25): Show c.155+274_155+283dupCGCCCCGCCC	CFAP418	ENSG00000156172.6	transcript	ENST00000286688.6	protein_coding	1/5			chr8	TogoVar
CFAP418_chr8_95239913_95274201	95268766	G G	GGGGCGGG others(3): Show GGGGCGGGGCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01074.hp2 others(1): Show HG00642.hp1 HG00642.hp2 HG01074.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0127 a0001c0001t0001g0026 a0001c0001t0001g0127	4	388	0.0103	10	c.155 others(25): Show c.155+268_155+269insTGCCCCGCCC	CFAP418	ENSG00000156172.6	transcript	ENST00000286688.6	protein_coding	1/5			chr8	TogoVar
CFAP418_chr8_95239913_95274201	95268776	G G	GGGGCGGG others(3): Show GGGGCGGGGCA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02257.hp2 HG02280.hp2 others(8): Show HG01168.hp2 HG02257.hp2 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp2 HG02896.hp2 HG03540.hp2 HG03704.hp2 NA19043.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0004t0001 a0001c0001t0001 a0001c0001t0010 a0001c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0075 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0010g0074 a0001c0004t0001g0028	11	388	0.0284	10	c.155 others(25): Show c.155+258_155+259insTGCCCCGCCC	CFAP418	ENSG00000156172.6	transcript	ENST00000286688.6	protein_coding	1/5			chr8	TogoVar
CFAP418_chr8_95239913_95274201	95272467	A A	ATAGATAG others(3): Show ATAGATAGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01515.hp1 others(1): Show HG01070.hp1 HG01074.hp1 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	4	388	0.0103	10	c.-32 others(21): Show c.-3279_-3278insACACTATCTA	CFAP418	ENSG00000156172.6	transcript	ENST00000286688.6	protein_coding		3267		chr8	TogoVar
CFAP43_chr10_104124888_104237364	104157736	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18955.hp2 HG02165.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0023 a0001c0001t0001g0046	2	306	0.0065	10	c.354 others(29): Show c.3540+3291_3540+3300dupCACACACACA	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157771	T T	TGAGAGAG others(3): Show TGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0299 a0001c0026t0001g0299	1	306	0.0033	10	c.354 others(29): Show c.3540+3265_3540+3266insTCTCTCTCTC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157773	T T	TGAGAGAG others(3): Show TGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18942.hp1 HG02145.hp2 NA18942.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0006c0009 a0004c0005 a0006c0009	a0004c0005t0001 a0006c0009t0001 a0004c0005t0001 a0006c0009t0001	a0004c0005t0001g0288 a0006c0009t0001g0257 a0004c0005t0001g0288 a0006c0009t0001g0257	2	306	0.0065	10	c.354 others(29): Show c.3540+3263_3540+3264insTCTCTCTCTC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGAGAGAG others(3): Show TGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp1 NA19064.hp1 HG02145.hp1 HG02896.hp1 NA19064.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0016 a0001c0001 a0012c0016	a0001c0001t0001 a0012c0016t0001 a0001c0001t0001 a0012c0016t0001	a0001c0001t0001g0188 a0001c0001t0001g0211 a0012c0016t0001g0290 a0001c0001t0001g0188 a0001c0001t0001g0211 a0012c0016t0001g0290	3	306	0.0098	10	c.354 others(29): Show c.3540+3252_3540+3261dupTCTCTCTCTC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGTGAGAG others(3): Show TGTGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	306	0.0033	10	c.354 others(29): Show c.3540+3261_3540+3262insTCTCTCTCAC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGTGTGTG others(3): Show TGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	306	0.0033	10	c.354 others(29): Show c.3540+3261_3540+3262insTCACACACAC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP45_chr1_159867364_159905165	159878753	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02055.hp1 HG02109.hp1 others(21): Show HG01934.hp1 HG02055.hp1 HG02109.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp2 NA18522.hp2 NA18945.hp2 NA18947.hp1 NA18963.hp1 NA18971.hp2 NA19055.hp1 NA19058.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 a0001c0001t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0143 a0002c0003t0001g0005 a0002c0003t0001g0018 others(9): Show a0001c0001t0001g0143 a0002c0003t0001g0005 a0002c0003t0001g0018 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0073 a0002c0003t0001g0077 a0002c0003t0001g0079 a0002c0003t0001g0087 a0002c0003t0001g0089 a0004c0005t0001g0008 a0004c0005t0001g0082	24	410	0.0585	10	c.104 others(29): Show c.1045-1301_1045-1292dupTTTTTTTTTT	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	8/11			chr1	TogoVar
CFAP46_chr10_132803392_132947570	132820866	G G	GTGTGTGC others(3): Show GTGTGTGCTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0001 a0038c0037t0001	a0038c0037t0001g0230 a0038c0037t0001g0230	1	246	0.0041	10	c.711 others(29): Show c.7118-5962_7118-5953dupTCAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132820929	G G	GTGAGTGC others(3): Show GTGAGTGCTGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0159	1	246	0.0041	10	c.711 others(29): Show c.7118-6016_7118-6015insTCAGCACTCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132821244	G G	GTGAGCGC others(3): Show GTGAGCGCTGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0051 a0051	a0051c0105 a0051c0105	a0051c0105t0001 a0051c0105t0001	a0051c0105t0001g0239 a0051c0105t0001g0239	1	246	0.0041	10	c.711 others(29): Show c.7118-6331_7118-6330insTCAGCGCTCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132823438	G G	GATGTGTG others(3): Show GATGTGTGCAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0071 a0071	a0071c0098 a0071c0098	a0071c0098t0002 a0071c0098t0002	a0071c0098t0002g0023 a0071c0098t0002g0023	1	246	0.0041	10	c.711 others(29): Show c.7118-8525_7118-8524insGTGCACACAT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132823760	G G	GTGAGTGC others(3): Show GTGAGTGCTGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0043 a0009c0043	a0009c0043t0001 a0009c0043t0001	a0009c0043t0001g0155 a0009c0043t0001g0155	1	246	0.0041	10	c.711 others(29): Show c.7118-8847_7118-8846insTCAGCACTCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132854323	G G	GTGTTTTG others(3): Show GTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG02055.hp2 others(15): Show HG00642.hp1 HG01074.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02717.hp2 HG02886.hp1 HG03130.hp2 HG03209.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA20300.hp1	a0006 a0008 a0009 others(7): Show a0006 a0008 a0009 a0020 a0022 a0029 a0038 a0039 a0062 a0065	a0006c0004 a0008c0009 a0009c0018 others(7): Show a0006c0004 a0008c0009 a0009c0018 a0020c0017 a0022c0042 a0029c0100 a0038c0037 a0039c0046 a0062c0093 a0065c0102	a0006c0004t0002 a0008c0009t0001 a0008c0009t0002 others(8): Show a0006c0004t0002 a0008c0009t0001 a0008c0009t0002 a0009c0018t0001 a0020c0017t0001 a0022c0042t0001 a0029c0100t0002 a0038c0037t0001 a0039c0046t0001 a0062c0093t0001 a0065c0102t0002	a0006c0004t0002g0106 a0006c0004t0002g0107 a0006c0004t0002g0108 others(15): Show a0006c0004t0002g0106 a0006c0004t0002g0107 a0006c0004t0002g0108 a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 a0008c0009t0001g0124 a0008c0009t0002g0101 a0009c0018t0001g0172 a0009c0018t0001g0228 a0020c0017t0001g0147 a0020c0017t0001g0148 a0022c0042t0001g0166 a0029c0100t0002g0019 a0038c0037t0001g0230 a0039c0046t0001g0144 a0062c0093t0001g0121 a0065c0102t0002g0018	18	246	0.0732	10	c.557 others(29): Show c.5575-3028_5575-3019dupAAACAAAACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132880118	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0002 a0070c0074t0002	a0070c0074t0002g0006 a0070c0074t0002g0006	1	246	0.0041	10	c.380 others(27): Show c.3800-497_3800-488dupCACACACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	28/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132928526	C C	CCAGATCA others(3): Show CCAGATCAGCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0087 a0003c0012t0002g0087	1	246	0.0041	10	c.966 others(27): Show c.966+1169_966+1178dupTGCTGATCTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	9/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132944152	C C	CAGATGGG others(3): Show CAGATGGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0045 a0045	a0045c0059 a0045c0059	a0045c0059t0001 a0045c0059t0001	a0045c0059t0001g0167 a0045c0059t0001g0167	1	246	0.0041	10	c.-16 others(21): Show c.-1669_-1668insCTGCCCATCT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		1583		chr10	TogoVar
CFAP47_chrX_35914734_36390317	35919048	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02717.hp1 others(4): Show HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG03225.hp1 NA20129.hp1 NA20300.hp2	a0017 a0021 a0050 others(3): Show a0017 a0021 a0050 a0051 a0052 a0053	a0017c0020 a0017c0063 a0021c0021 others(4): Show a0017c0020 a0017c0063 a0021c0021 a0050c0062 a0051c0059 a0052c0060 a0053c0061	a0017c0020t0001 a0017c0063t0001 a0021c0021t0001 others(4): Show a0017c0020t0001 a0017c0063t0001 a0021c0021t0001 a0050c0062t0001 a0051c0059t0001 a0052c0060t0001 a0053c0061t0002	a0017c0020t0001g0212 a0017c0063t0001g0213 a0021c0021t0001g0210 others(4): Show a0017c0020t0001g0212 a0017c0063t0001g0213 a0021c0021t0001g0210 a0050c0062t0001g0216 a0051c0059t0001g0215 a0052c0060t0001g0208 a0053c0061t0002g0214	7	216	0.0324	10	c.-75 others(19): Show c.-752_-751insTGTGTGTGTG	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding		685		chrX	TogoVar
CFAP47_chrX_35914734_36390317	35923948	T T	TATGTACA others(3): Show TATGTACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG03453.hp1 HG01884.hp2 HG02615.hp1 HG03453.hp1	a0015 a0016 a0015 a0016	a0015c0018 a0016c0052 a0016c0055 a0015c0018 a0016c0052 a0016c0055	a0015c0018t0001 a0016c0052t0001 a0016c0055t0002 a0015c0018t0001 a0016c0052t0001 a0016c0055t0002	a0015c0018t0001g0192 a0016c0052t0001g0017 a0016c0055t0002g0191 a0015c0018t0001g0192 a0016c0052t0001g0017 a0016c0055t0002g0191	3	216	0.0139	10	c.250 others(27): Show c.250-2069_250-2068insATGTACACAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63			chrX	TogoVar
CFAP47_chrX_35914734_36390317	35923970	T T	TATATATG others(3): Show TATATATGTAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG03225.hp1 others(1): Show HG02622.hp2 HG02717.hp1 HG03225.hp1 NA20129.hp1	a0017 a0051 a0052 others(1): Show a0017 a0051 a0052 a0053	a0017c0063 a0051c0059 a0052c0060 others(1): Show a0017c0063 a0051c0059 a0052c0060 a0053c0061	a0017c0063t0001 a0051c0059t0001 a0052c0060t0001 others(1): Show a0017c0063t0001 a0051c0059t0001 a0052c0060t0001 a0053c0061t0002	a0017c0063t0001g0213 a0051c0059t0001g0215 a0052c0060t0001g0208 others(1): Show a0017c0063t0001g0213 a0051c0059t0001g0215 a0052c0060t0001g0208 a0053c0061t0002g0214	4	216	0.0185	10	c.250 others(27): Show c.250-2045_250-2044insATATGTACAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924061	G G	GTACATAT others(3): Show GTACATATGTA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp1 HG02886.hp2 HG03041.hp1	a0011 a0014 a0011 a0014	a0011c0054 a0014c0016 a0011c0054 a0014c0016	a0011c0054t0001 a0014c0016t0001 a0011c0054t0001 a0014c0016t0001	a0011c0054t0001g0201 a0014c0016t0001g0193 a0011c0054t0001g0201 a0014c0016t0001g0193	2	216	0.0093	10	c.250 others(27): Show c.250-1956_250-1955insTACATATGTA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63			chrX	TogoVar

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