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
CES4A_chr16_66983589_67015417	66994216	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02145.hp1 others(22): Show HG01109.hp2 HG01884.hp2 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA19081.hp1 NA20129.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0007	a0002c0002 a0002c0004 a0003c0003 others(2): Show a0002c0002 a0002c0004 a0003c0003 a0004c0009 a0007c0010	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0003 a0003c0003t0001 a0004c0009t0001 a0007c0010t0002	a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0002g0018 others(19): Show a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0002g0018 a0002c0002t0002g0044 a0002c0002t0002g0052 a0002c0002t0002g0068 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0004t0001g0019 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0180 a0002c0004t0001g0181 a0002c0004t0003g0059 a0003c0003t0001g0118 a0004c0009t0001g0050 a0007c0010t0002g0044	25	306	0.0817	12	c.59- others(27): Show c.59-1388_59-1377dupATTTATTTATTT	CES4A	ENSG00000172824.17	transcript	ENST00000648724.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTTTTT others(5): Show CTTTTTTTTTTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG02109.hp2 others(4): Show HG00438.hp1 HG00673.hp1 HG02109.hp2 HG02258.hp2 NA18951.hp1 NA18955.hp1 NA19091.hp1	a0004 a0006 a0033 others(1): Show a0004 a0006 a0033 a0046	a0004c0006 a0006c0007 a0033c0043 others(1): Show a0004c0006 a0006c0007 a0033c0043 a0046c0063	a0004c0006t0001 a0004c0006t0003 a0004c0006t0005 others(3): Show a0004c0006t0001 a0004c0006t0003 a0004c0006t0005 a0006c0007t0001 a0033c0043t0002 a0046c0063t0004	a0004c0006t0001g0346 a0004c0006t0003g0082 a0004c0006t0003g0107 others(4): Show a0004c0006t0001g0346 a0004c0006t0003g0082 a0004c0006t0003g0107 a0004c0006t0005g0140 a0006c0007t0001g0251 a0033c0043t0002g0277 a0046c0063t0004g0088	7	449	0.0156	12	c.112 others(31): Show c.1126-1504_1126-1503insAGAAAAAAAAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CES5A_chr16_55841154_55880373	55854534	T T	TCTGTTTT others(5): Show TCTGTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0004 a0010c0019t0004	a0010c0019t0004g0010 a0010c0019t0004g0047 a0010c0019t0004g0010 a0010c0019t0004g0047	3	449	0.0067	12	c.112 others(31): Show c.1126-1507_1126-1506insGAAAGAAAACAG	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CETN1_chr18_575380_587114	576446	G G	GAGAGAGG others(5): Show GAGAGAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03130.hp2 HG02559.hp1 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0000 a0002c0002t0004g0000 a0002c0002t0002g0000 a0002c0002t0004g0000	2	422	0.0047	12	c.-39 others(23): Show c.-3963_-3962insAGAGAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3933		chr18	TogoVar
CETN1_chr18_575380_587114	576446	G G	GAGGAAGG others(5): Show GAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00673.hp1 others(15): Show HG00099.hp1 HG00544.hp2 HG00673.hp1 HG00673.hp2 HG01109.hp2 HG02129.hp1 HG02559.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 NA18955.hp1 NA18965.hp2 NA18968.hp2 NA18986.hp2 NA19002.hp1 NA19004.hp2 NA19065.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0002c0002t0003	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0009g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0009g0000 a0002c0002t0003g0000	18	422	0.0427	12	c.-39 others(23): Show c.-3963_-3962insAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3933		chr18	TogoVar
CETP_chr16_56956950_56988845	56959938	G G	GGAAAGAA others(5): Show GGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02080.hp1 HG02080.hp2 others(6): Show HG00099.hp1 HG02080.hp1 HG02080.hp2 NA18940.hp1 NA18960.hp1 NA18961.hp2 NA19002.hp2 NA19005.hp2 NA19085.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0008 a0001c0001 a0002c0002 a0005c0008	a0001c0001t0001 a0002c0002t0001 a0005c0008t0001 a0001c0001t0001 a0002c0002t0001 a0005c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0257 a0001c0001t0001g0258 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0288 a0002c0002t0001g0017 a0002c0002t0001g0192 a0002c0002t0001g0256 a0005c0008t0001g0247	9	462	0.0195	12	c.-20 others(23): Show c.-2042_-2041insGAAAGAAAGAAA	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		2011		chr16	TogoVar
CETP_chr16_56956950_56988845	56959985	A A	AAGAAAGA others(5): Show AAGAAAGAAAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02056.hp1 HG02132.hp2 others(8): Show HG01081.hp2 HG02056.hp1 HG02132.hp2 HG02165.hp2 HG02523.hp1 HG03831.hp2 NA18962.hp1 NA18983.hp2 NA18998.hp1 NA19001.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0132 a0002c0002t0002g0007 a0002c0002t0002g0015 others(6): Show a0002c0002t0001g0132 a0002c0002t0002g0007 a0002c0002t0002g0015 a0002c0002t0002g0119 a0002c0002t0002g0127 a0002c0002t0002g0130 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0152	11	462	0.0238	12	c.-19 others(23): Show c.-1995_-1994insAGAAAGAAAGAC	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		1964		chr16	TogoVar
CETP_chr16_56956950_56988845	56959985	A A	AAGAAAGA others(5): Show AAGAAAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	462	0.0022	12	c.-19 others(23): Show c.-1995_-1994insAGAAAGACAGAC	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		1964		chr16	TogoVar
CETP_chr16_56956950_56988845	56959989	A A	AAGAAAGA others(5): Show AAGAAAGAAAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG01496.hp1 others(8): Show HG00099.hp2 HG00558.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01993.hp1 HG02071.hp1 HG02257.hp2 HG02723.hp1 HG03516.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0002c0025	a0001c0001t0001 a0002c0002t0001 a0002c0003t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0002 a0002c0005t0001 a0002c0025t0001	a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0001g0222 a0002c0002t0001g0033 a0002c0003t0002g0013 a0002c0003t0002g0037 a0002c0005t0001g0072 a0002c0025t0001g0082	11	462	0.0238	12	c.-19 others(23): Show c.-1991_-1990insAGAAAGAAAGAC	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		1960		chr16	TogoVar
CFAP100_chr3_126389909_126441556	126401397	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00642.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0297 a0001c0001t0001g0298	2	422	0.0047	12	c.49+ others(27): Show c.49+5383_49+5394dupTATATATATATA	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP100_chr3_126389909_126441556	126401397	T T	TTTTATAT others(5): Show TTTTATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	422	0.0024	12	c.49+ others(27): Show c.49+5349_49+5350insTTATATATATAT	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP141_chr1_154194085_154211333	154203172	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	372	0.0027	12	c.74+ others(27): Show c.74+2414_74+2425dupATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP141_chr1_154194085_154211333	154211168	C C	CTGGCATT others(5): Show CTGGCATTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01433.hp2 HG01891.hp2 others(35): Show HG01109.hp2 HG01433.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0031 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143	38	372	0.1022	12	c.-48 others(23): Show c.-4862_-4861insCAAAAAATGCCA	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding		4836		chr1	TogoVar
CFAP157_chr9_127701988_127721002	127718288	T T	TTGTTGCC others(5): Show TTGTTGCCCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0013	1	354	0.0028	12	c.43 others(23): Show c.4383_*4384insTGTTGCCCAGGC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		2287		chr9	TogoVar
CFAP161_chr15_81129270_81154179	81133221	A A	ATATATAT others(5): Show ATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	448	0.0022	12	c.-11 others(23): Show c.-1109_-1108insTATATATATATG	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1048		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81146831	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03239.hp1 NA18956.hp2 HG00642.hp1 HG03239.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0186 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0186	3	448	0.0067	12	c.637 others(27): Show c.637-986_637-975dupATATATATATAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
CFAP206_chr6_87402972_87469465	87447951	T T	TTTATTAT others(5): Show TTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01167.hp1 others(18): Show HG00642.hp2 HG00741.hp1 HG01167.hp1 HG01169.hp1 HG01358.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02559.hp2 HG02965.hp2 NA18953.hp1 NA18989.hp1 NA18990.hp1 NA19043.hp2 NA19063.hp1 NA19084.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0004 a0001c0001 a0001c0008 a0003c0004	a0001c0001t0002 a0001c0008t0002 a0003c0004t0001 a0001c0001t0002 a0001c0008t0002 a0003c0004t0001	a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0043 others(17): Show a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0179 a0001c0008t0002g0026 a0001c0008t0002g0248 a0003c0004t0001g0020 a0003c0004t0001g0244 a0003c0004t0001g0245 a0003c0004t0001g0246	21	376	0.0559	12	c.149 others(33): Show c.1494+12905_1494+12916dupTTATTATTATTA	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP206_chr6_87402972_87469465	87450475	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	376	0.0027	12	c.149 others(33): Show c.1495-10519_1495-10508dupGTGTGTGTGTGT	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP20DC_chr3_58737008_59055025	58751840	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02965.hp1 HG03130.hp2 others(1): Show HG01243.hp2 HG02965.hp1 HG03130.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0001 a0003c0007t0005 a0003c0004t0001 a0003c0007t0005	a0003c0004t0001g0160 a0003c0004t0001g0162 a0003c0004t0001g0163 others(1): Show a0003c0004t0001g0160 a0003c0004t0001g0162 a0003c0004t0001g0163 a0003c0007t0005g0193	4	204	0.0196	12	c.233 others(31): Show c.2332+1917_2332+1928dupGTGTGTGTGTGT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	16/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58801050	T T	TGAGAGAG others(5): Show TGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00639.hp1 others(45): Show HG00408.hp1 HG00438.hp1 HG00639.hp1 HG00673.hp1 HG01071.hp2 HG01081.hp2 HG01255.hp1 HG01361.hp1 HG01928.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02486.hp2 HG02602.hp2 HG02735.hp2 HG02886.hp2 HG03704.hp2 HG03831.hp1 HG06807.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18964.hp2 NA18966.hp1 NA18977.hp2 NA18992.hp2 NA19001.hp2 NA19002.hp2 NA19060.hp2 NA19063.hp1 NA19070.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0008 others(45): Show a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0095 a0001c0002t0002g0114 a0001c0002t0002g0134 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0153 a0001c0002t0002g0156 a0001c0002t0002g0195 a0001c0002t0004g0011 a0001c0002t0004g0041	48	204	0.2353	12	c.223 others(31): Show c.2237+5333_2237+5344dupTCTCTCTCTCTC	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58825538	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0159 a0003c0004t0001g0159	1	204	0.0049	12	c.217 others(31): Show c.2175+6136_2175+6147dupGTGTGTGTGTGT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	14/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58891422	G G	GGGGAGAG others(5): Show GGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	204	0.0049	12	c.551 others(29): Show c.551-6725_551-6714dupTCTCCCTCTCCC	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	6/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58941327	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp1 HG02922.hp2 HG01109.hp2 HG02615.hp1 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0158 a0001c0002t0001g0196 a0001c0002t0001g0198	3	204	0.0147	12	c.279 others(29): Show c.279-3577_279-3566dupTTTTTTTTTTTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58963190	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp2 HG02615.hp1 others(5): Show HG00438.hp2 HG01934.hp2 HG02615.hp1 HG02922.hp2 NA18944.hp1 NA19002.hp1 NA19060.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0082 others(5): Show a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0002t0001g0158 a0001c0002t0001g0198	8	204	0.0392	12	c.279 others(31): Show c.279-25440_279-25429dupCACACACACACA	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58990754	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp2 NA18906.hp2 HG01243.hp2 HG02922.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0007 a0001c0002 a0002c0003 a0003c0007	a0001c0002t0001 a0002c0003t0001 a0003c0007t0005 a0001c0002t0001 a0002c0003t0001 a0003c0007t0005	a0001c0002t0001g0198 a0002c0003t0001g0165 a0003c0007t0005g0193 a0001c0002t0001g0198 a0002c0003t0001g0165 a0003c0007t0005g0193	3	204	0.0147	12	c.278 others(31): Show c.278+48791_278+48802dupACACACACACAC	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58995975	A A	AATCAATC others(5): Show AATCAATCTATCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02040.hp1 HG02602.hp2 others(2): Show HG01081.hp2 HG02040.hp1 HG02602.hp2 HG03831.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0015 others(2): Show a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0134	5	204	0.0245	12	c.278 others(31): Show c.278+43581_278+43582insAGATAGATTGAT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58995975	A A	AATCTATC others(5): Show AATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp1 others(14): Show HG00140.hp2 HG00408.hp1 HG00438.hp1 HG01934.hp2 HG02027.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02922.hp2 NA18939.hp2 NA19001.hp1 NA19002.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0011c0016	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0011c0016t0001	a0001c0001t0001g0048 a0001c0001t0001g0094 a0001c0001t0001g0096 others(14): Show a0001c0001t0001g0048 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0002t0001g0002 a0001c0002t0001g0198 a0001c0002t0001g0201 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0029 a0001c0002t0002g0053 a0002c0003t0001g0180 a0011c0016t0001g0191	17	204	0.0833	12	c.278 others(31): Show c.278+43570_278+43581dupAGATAGATAGAT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP210_chr2_169640425_169699405	169650734	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00733.hp2 HG02486.hp2 others(8): Show HG00558.hp1 HG00733.hp2 HG02486.hp2 HG02615.hp1 HG02647.hp1 HG03486.hp1 HG03654.hp2 HG04228.hp1 NA18522.hp1 NA19003.hp1 NA19240.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0008 a0003c0003 others(3): Show a0001c0001 a0001c0008 a0003c0003 a0004c0004 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0003c0003t0002 a0004c0004t0002 a0005c0005t0002 a0006c0006t0002	a0001c0001t0001g0136 a0001c0001t0002g0020 a0001c0008t0001g0134 others(8): Show a0001c0001t0001g0136 a0001c0001t0002g0020 a0001c0008t0001g0134 a0001c0008t0001g0135 a0003c0003t0002g0034 a0003c0003t0002g0043 a0003c0003t0002g0046 a0003c0003t0002g0049 a0004c0004t0002g0062 a0005c0005t0002g0037 a0006c0006t0002g0095	11	390	0.0282	12	c.960 others(27): Show c.960-225_960-214dupCACACACACACA	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169656387	A A	AGGAGGAT others(5): Show AGGAGGATGAAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(65): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG01099.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18952.hp1 NA18981.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19062.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0010 a0013 a0015	a0001c0007 a0002c0002 a0003c0003 others(5): Show a0001c0007 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0010c0017 a0013c0013 a0015c0016	a0001c0007t0002 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0007t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0004c0004t0002 a0005c0005t0002 a0010c0017t0002 a0013c0013t0002 a0015c0016t0002	a0001c0007t0002g0051 a0001c0007t0002g0052 a0001c0007t0002g0053 others(60): Show a0001c0007t0002g0051 a0001c0007t0002g0052 a0001c0007t0002g0053 a0002c0002t0001g0349 a0002c0002t0002g0009 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0003c0003t0002g0002 a0003c0003t0002g0007 a0003c0003t0002g0034 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0049 a0003c0003t0002g0050 a0004c0004t0002g0048 a0004c0004t0002g0054 a0004c0004t0002g0055 a0004c0004t0002g0056 a0004c0004t0002g0057 a0004c0004t0002g0058 a0004c0004t0002g0059 a0004c0004t0002g0060 a0004c0004t0002g0061 a0004c0004t0002g0062 a0004c0004t0002g0064 a0004c0004t0002g0065 a0005c0005t0002g0008 a0005c0005t0002g0035 a0005c0005t0002g0036 a0005c0005t0002g0037 a0010c0017t0002g0127 a0013c0013t0002g0066 a0015c0016t0002g0063	68	390	0.1744	12	c.820 others(29): Show c.820-2174_820-2173insACTTCATCCTCC	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	5/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169692444	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	390	0.0026	12	c.67+ others(27): Show c.67+1805_67+1816dupTGTGTGTGTGTG	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	1/8			chr2	TogoVar
CFAP221_chr2_119539449_119661661	119628294	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00735.hp1 others(26): Show HG00438.hp2 HG00544.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG01243.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01934.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02735.hp1 HG03471.hp1 HG03710.hp1 NA18946.hp2 NA18948.hp2 NA18964.hp1 NA18973.hp2 NA18975.hp2 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0008t0001	a0001c0001t0001g0017 a0001c0001t0001g0173 a0001c0001t0001g0175 others(26): Show a0001c0001t0001g0017 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0002g0020 a0001c0001t0002g0188 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0222 a0002c0002t0001g0088 a0002c0002t0001g0093 a0002c0002t0001g0097 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0002g0154 a0002c0002t0002g0157 a0002c0008t0001g0110 a0002c0008t0001g0111	29	226	0.1283	12	c.165 others(29): Show c.1650+537_1650+548dupGTGTGTGTGTGT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP251_chr12_121913592_122008919	121952240	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0013 a0004c0002t0001g0013	1	354	0.0028	12	c.132 others(29): Show c.1320+730_1320+741dupAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121978393	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01175.hp1 HG01261.hp1 others(24): Show HG01168.hp2 HG01175.hp1 HG01261.hp1 HG02257.hp1 HG02486.hp2 HG02523.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp2 HG03017.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG03688.hp1 HG03927.hp2 NA18522.hp2 NA18940.hp2 NA18956.hp2 NA18980.hp1 NA18992.hp2 NA19002.hp1 NA19004.hp2 NA19060.hp1 NA20300.hp2	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0003 a0005c0005 a0007c0007 a0003c0003 a0005c0005 a0007c0007	a0003c0003t0001 a0005c0005t0001 a0005c0005t0003 others(1): Show a0003c0003t0001 a0005c0005t0001 a0005c0005t0003 a0007c0007t0001	a0003c0003t0001g0092 a0003c0003t0001g0332 a0003c0003t0001g0333 others(24): Show a0003c0003t0001g0092 a0003c0003t0001g0332 a0003c0003t0001g0333 a0005c0005t0001g0219 a0005c0005t0001g0227 a0005c0005t0001g0228 a0005c0005t0001g0230 a0005c0005t0001g0239 a0005c0005t0001g0240 a0005c0005t0001g0242 a0005c0005t0001g0245 a0005c0005t0001g0265 a0005c0005t0001g0336 a0005c0005t0003g0270 a0007c0007t0001g0067 a0007c0007t0001g0068 a0007c0007t0001g0069 a0007c0007t0001g0070 a0007c0007t0001g0071 a0007c0007t0001g0072 a0007c0007t0001g0074 a0007c0007t0001g0076 a0007c0007t0001g0077 a0007c0007t0001g0079 a0007c0007t0001g0080 a0007c0007t0001g0081 a0007c0007t0001g0082	27	354	0.0763	12	c.300 others(31): Show c.3006+2725_3006+2736dupAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121979563	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0056 a0002c0004t0001g0056	1	354	0.0028	12	c.300 others(31): Show c.3006+3886_3006+3897dupTTTTTTTTTTTT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113402	G G	GAGAGAGA others(5): Show GAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02165.hp1 NA18972.hp2 others(2): Show HG02015.hp2 HG02165.hp1 NA18972.hp2 NA19063.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0012 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0040	5	404	0.0124	12	c.-72 others(21): Show c.-724_-723insTTCTCTCTCTCT	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		656		chr1	TogoVar
CFAP276_chr1_109100951_109117747	109113416	A A	AAGAGAGA others(5): Show AAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	404	0.0025	12	c.-74 others(21): Show c.-749_-738dupCTCTCTCTCTCT	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		670		chr1	TogoVar
CFAP276_chr1_109100951_109117747	109113451	A A	AGAGAGAG others(5): Show AGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG02572.hp2 others(10): Show HG00639.hp1 HG00741.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 NA18968.hp1 NA18970.hp1 NA18985.hp2 NA18994.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0002g0025	13	404	0.0322	12	c.-77 others(21): Show c.-773_-772insACTCCCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		705		chr1	TogoVar
CFAP299_chr4_80330730_80968750	80504462	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0092 a0001c0003t0002g0092	1	96	0.0104	12	c.243 others(31): Show c.243-78598_243-78587dupATATATATATAT	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(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03017.hp1 NA18906.hp1 others(4): Show HG01243.hp2 HG03017.hp1 NA18906.hp1 NA18964.hp2 NA18983.hp1 NA18984.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0003t0002 a0002c0006t0001 a0001c0001t0001 a0001c0003t0002 a0002c0006t0001	a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0077 others(4): Show a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0003t0002g0087 a0002c0006t0001g0034	7	96	0.0729	12	c.243 others(31): Show c.243-10569_243-10558dupTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80581453	G G	GATAGATA others(5): Show GATAGATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0047 a0002c0007t0001g0047	1	96	0.0104	12	c.243 others(29): Show c.243-1637_243-1636insGATATATATATA	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(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02040.hp1 HG02735.hp2 others(6): Show HG00738.hp1 HG02040.hp1 HG02735.hp2 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03516.hp2 NA18957.hp2 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0052 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0002g0030 a0001c0004t0001g0066 a0001c0004t0001g0095 a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0045	9	96	0.0938	12	c.243 others(29): Show c.243-1615_243-1604dupATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80651704	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0088 a0002c0006t0001g0088	1	96	0.0104	12	c.333 others(31): Show c.333+68545_333+68556dupGTGTGTGTGTGT	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(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02071.hp2 HG01243.hp1 HG02071.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0032 a0002c0002t0001g0005 a0001c0001t0001g0032 a0002c0002t0001g0005	2	96	0.0208	12	c.333 others(31): Show c.333+85957_333+85958insTTTTTTTTTTTT	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(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00642.hp2 others(8): Show HG00597.hp1 HG00642.hp1 HG00642.hp2 HG02451.hp2 HG02886.hp2 HG02895.hp1 HG03017.hp1 NA18950.hp2 NA18957.hp1 NA19005.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0054 others(8): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0003t0001g0083 a0001c0003t0002g0091 a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0068	11	96	0.1146	12	c.334 others(29): Show c.334-3908_334-3897dupATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80900123	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG03139.hp2 others(2): Show HG02280.hp2 HG02647.hp2 HG03139.hp2 HG03540.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0044 a0001c0003t0002g0092 a0002c0002t0001g0020 others(2): Show a0001c0001t0001g0044 a0001c0003t0002g0092 a0002c0002t0001g0020 a0002c0002t0001g0046 a0002c0005t0001g0058	5	96	0.0521	12	c.476 others(31): Show c.476+30015_476+30026dupGTGTGTGTGTGT	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(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02735.hp1 HG00597.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0060 a0001c0001t0001g0069	2	96	0.0208	12	c.477 others(31): Show c.477-28525_477-28514dupATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80916295	A A	ATATATAT others(5): Show ATATATATATATT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0082 a0002c0006t0001g0082	1	96	0.0104	12	c.477 others(31): Show c.477-28514_477-28513insATATATATATTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80924514	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	96	0.0104	12	c.477 others(31): Show c.477-20282_477-20271dupGTGTGTGTGTGT	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(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01891.hp2 HG02074.hp1 others(9): Show HG01358.hp1 HG01891.hp2 HG02074.hp1 HG02145.hp2 HG03041.hp2 HG03195.hp2 NA18522.hp1 NA18979.hp1 NA19005.hp2 NA19078.hp1 NA19087.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0001t0001g0162 others(9): Show a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0003t0001g0160 a0001c0003t0001g0163 a0001c0003t0001g0168 a0001c0003t0004g0159	12	346	0.0347	12	c.193 others(29): Show c.193-3517_193-3506dupTTTTTTTTTTTT	CFAP300	ENSG00000137691.13	transcript	ENST00000434758.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP418_chr8_95239913_95274201	95244596	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03942.hp1 HG02615.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0009 a0001c0001t0001g0038	2	388	0.0052	12	c.30 others(23): Show c.3020_*3021insGTGTGTGTGTGT	CFAP418	ENSG00000156172.6	transcript	ENST00000286688.6	protein_coding		316		chr8	TogoVar

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