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
CFAP44_chr3_113281930_113446493	113353453	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0053 a0028c0038t0053	a0028c0038t0053g0023 a0028c0038t0053g0023	1	348	0.0029	-16	c.306 others(35): Show c.3065+5276_3065+5291delGTGTGTGTGTGTGTGT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	22/34			chr3	TogoVar
CFAP46_chr10_132803392_132947570	132813339	TCTGCACA others(9): Show TCTGCACACACCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0002 a0070c0074t0002	a0070c0074t0002g0006 a0070c0074t0002g0006	1	246	0.0041	-16	c.738 others(33): Show c.7389-458_7389-443delGGGCAGGTGTGTGCAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132823521	GTGTGTGC others(9): Show GTGTGTGCTGTGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00733.hp1 HG01081.hp2 NA18940.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA19060.hp2	a0011 a0019 a0035 others(3): Show a0011 a0019 a0035 a0037 a0053 a0057	a0011c0010 a0019c0020 a0035c0057 others(3): Show a0011c0010 a0019c0020 a0035c0057 a0037c0056 a0053c0068 a0057c0088	a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 others(3): Show a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 a0037c0056t0001 a0053c0068t0002 a0057c0088t0002	a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 others(7): Show a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0019c0020t0001g0149 a0019c0020t0001g0150 a0035c0057t0001g0234 a0037c0056t0001g0136 a0053c0068t0002g0012 a0057c0088t0002g0042	10	246	0.0407	-16	c.711 others(35): Show c.7118-8623_7118-8608delGCGCACACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132823901	CTGTGTGA others(9): Show CTGTGTGAGCGCTGATG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00733.hp1 HG01081.hp2 NA18940.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA19060.hp2	a0011 a0019 a0035 others(3): Show a0011 a0019 a0035 a0037 a0053 a0057	a0011c0010 a0019c0020 a0035c0057 others(3): Show a0011c0010 a0019c0020 a0035c0057 a0037c0056 a0053c0068 a0057c0088	a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 others(3): Show a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 a0037c0056t0001 a0053c0068t0002 a0057c0088t0002	a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 others(7): Show a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0019c0020t0001g0149 a0019c0020t0001g0150 a0035c0057t0001g0234 a0037c0056t0001g0136 a0053c0068t0002g0012 a0057c0088t0002g0042	10	246	0.0407	-16	c.711 others(35): Show c.7118-9003_7118-8988delCATCAGCGCTCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887097	TCCTCTCT others(9): Show TCCTCTCTCCTCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG01261.hp1 HG01884.hp2	a0009 a0066 a0009 a0066	a0009c0043 a0066c0077 a0009c0043 a0066c0077	a0009c0043t0001 a0066c0077t0001 a0009c0043t0001 a0066c0077t0001	a0009c0043t0001g0155 a0066c0077t0001g0127 a0009c0043t0001g0155 a0066c0077t0001g0127	2	246	0.0081	-16	c.330 others(35): Show c.3305-1154_3305-1139delTGAAAGAGGAGAGAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887667	ACCTCTCT others(9): Show ACCTCTCTCTCTCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01256.hp2 HG01517.hp2 others(2): Show HG01255.hp2 HG01256.hp2 HG01517.hp2 HG02559.hp2 HG03239.hp2	a0000 a0006 a0000 a0006	a0000c0087 a0006c0004 a0000c0087 a0006c0004	a0000c0087t0002 a0006c0004t0002 a0000c0087t0002 a0006c0004t0002	a0000c0087t0002g0112 a0006c0004t0002g0027 a0006c0004t0002g0109 others(2): Show a0000c0087t0002g0112 a0006c0004t0002g0027 a0006c0004t0002g0109 a0006c0004t0002g0110 a0006c0004t0002g0111	5	246	0.0203	-16	c.330 others(35): Show c.3305-1724_3305-1709delAGAGGAGAGAGAGAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132946817	CCCCAGCA others(9): Show CCCCAGCATCCCAGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG02486.hp2 HG03017.hp1 others(1): Show HG01169.hp1 HG02486.hp2 HG03017.hp1 HG03669.hp1	a0025 a0050 a0051 a0025 a0050 a0051	a0025c0033 a0050c0104 a0051c0105 a0025c0033 a0050c0104 a0051c0105	a0025c0033t0001 a0025c0033t0003 a0050c0104t0001 others(1): Show a0025c0033t0001 a0025c0033t0003 a0050c0104t0001 a0051c0105t0001	a0025c0033t0001g0238 a0025c0033t0003g0237 a0050c0104t0001g0236 others(1): Show a0025c0033t0001g0238 a0025c0033t0003g0237 a0050c0104t0001g0236 a0051c0105t0001g0239	4	246	0.0163	-16	c.-43 others(27): Show c.-4349_-4334delATGCTGGGATGCTGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4248		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132946859	TCAGCATC others(9): Show TCAGCATCCCAGCACCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG03486.hp1 others(1): Show HG01891.hp2 HG02572.hp1 HG03486.hp1 NA20300.hp2	a0017 a0026 a0059 a0017 a0026 a0059	a0017c0026 a0026c0081 a0059c0082 a0017c0026 a0026c0081 a0059c0082	a0017c0026t0002 a0026c0081t0002 a0059c0082t0002 a0017c0026t0002 a0026c0081t0002 a0059c0082t0002	a0017c0026t0002g0097 a0017c0026t0002g0099 a0026c0081t0002g0098 others(1): Show a0017c0026t0002g0097 a0017c0026t0002g0099 a0026c0081t0002g0098 a0059c0082t0002g0100	4	246	0.0163	-16	c.-43 others(27): Show c.-4391_-4376delTGGTGCTGGGATGCTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4290		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132946955	CCAGCATC others(9): Show CCAGCATCCCAGCACTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	246	0.0041	-16	c.-44 others(27): Show c.-4487_-4472delCAGTGCTGGGATGCTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4386		chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923890	TATGTGTA others(9): Show TATGTGTATATATGTAC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18747.hp1 HG02040.hp1 NA18747.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0001 a0001c0001t0001 a0004c0003t0001	a0001c0001t0001g0026 a0004c0003t0001g0025 a0001c0001t0001g0026 a0004c0003t0001g0025	2	216	0.0093	-16	c.250 others(33): Show c.250-2108_250-2093delGTGTATATATGTACAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924408	TATGTGTA others(9): Show TATGTGTATATGCACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02559.hp2 others(19): Show HG01884.hp2 HG01891.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp1 NA18522.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0005 a0007 a0010 others(10): Show a0005 a0007 a0010 a0011 a0014 a0015 a0016 a0017 a0021 a0050 a0051 a0052 a0053	a0005c0015 a0007c0077 a0010c0007 others(13): Show a0005c0015 a0007c0077 a0010c0007 a0011c0054 a0011c0076 a0014c0016 a0015c0018 a0016c0052 a0016c0055 a0017c0020 a0017c0063 a0021c0021 a0050c0062 a0051c0059 a0052c0060 a0053c0061	a0005c0015t0001 a0007c0077t0001 a0010c0007t0001 others(13): Show a0005c0015t0001 a0007c0077t0001 a0010c0007t0001 a0011c0054t0001 a0011c0076t0001 a0014c0016t0001 a0015c0018t0001 a0016c0052t0001 a0016c0055t0002 a0017c0020t0001 a0017c0063t0001 a0021c0021t0001 a0050c0062t0001 a0051c0059t0001 a0052c0060t0001 a0053c0061t0002	a0005c0015t0001g0199 a0007c0077t0001g0140 a0010c0007t0001g0194 others(19): Show a0005c0015t0001g0199 a0007c0077t0001g0140 a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 a0010c0007t0001g0197 a0010c0007t0001g0198 a0011c0054t0001g0201 a0011c0076t0001g0141 a0014c0016t0001g0193 a0014c0016t0001g0200 a0015c0018t0001g0192 a0016c0052t0001g0017 a0016c0055t0002g0191 a0017c0020t0001g0212 a0017c0063t0001g0213 a0021c0021t0001g0209 a0021c0021t0001g0210 a0050c0062t0001g0216 a0051c0059t0001g0215 a0052c0060t0001g0208 a0053c0061t0002g0214	22	216	0.1019	-16	c.250 others(33): Show c.250-1606_250-1591delGTGTATATGCACACAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35937104	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG02615.hp1 others(5): Show HG01255.hp1 HG01884.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp2 HG03041.hp1 HG03453.hp1 NA19240.hp2	a0011 a0014 a0015 others(2): Show a0011 a0014 a0015 a0016 a0049	a0011c0054 a0014c0016 a0014c0070 others(4): Show a0011c0054 a0014c0016 a0014c0070 a0015c0018 a0016c0052 a0016c0055 a0049c0058	a0011c0054t0001 a0014c0016t0001 a0014c0070t0001 others(4): Show a0011c0054t0001 a0014c0016t0001 a0014c0070t0001 a0015c0018t0001 a0016c0052t0001 a0016c0055t0002 a0049c0058t0001	a0011c0054t0001g0201 a0014c0016t0001g0193 a0014c0016t0001g0200 others(5): Show a0011c0054t0001g0201 a0014c0016t0001g0193 a0014c0016t0001g0200 a0014c0070t0001g0138 a0015c0018t0001g0192 a0016c0052t0001g0017 a0016c0055t0002g0191 a0049c0058t0001g0207	8	216	0.0370	-16	c.402 others(33): Show c.402-4165_402-4150delTTTTTTTTTTTTTTTT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	2/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36077183	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0197 a0010c0007t0001g0197	1	216	0.0046	-16	c.469 others(35): Show c.4691+3844_4691+3859delTTTTTTTTTTTTTTTT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	29/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36299296	ACTGACTT others(9): Show ACTGACTTACAGTTAGC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG02622.hp2 others(3): Show HG01884.hp2 HG02615.hp1 HG02622.hp2 HG03195.hp1 HG03209.hp1 NA18906.hp1	a0016 a0038 a0041 others(1): Show a0016 a0038 a0041 a0053	a0016c0031 a0016c0052 a0016c0055 others(3): Show a0016c0031 a0016c0052 a0016c0055 a0038c0042 a0041c0075 a0053c0061	a0016c0031t0002 a0016c0052t0001 a0016c0055t0002 others(3): Show a0016c0031t0002 a0016c0052t0001 a0016c0055t0002 a0038c0042t0001 a0041c0075t0001 a0053c0061t0002	a0016c0031t0002g0202 a0016c0052t0001g0017 a0016c0055t0002g0191 others(3): Show a0016c0031t0002g0202 a0016c0052t0001g0017 a0016c0055t0002g0191 a0038c0042t0001g0011 a0041c0075t0001g0135 a0053c0061t0002g0214	6	216	0.0278	-16	c.786 others(33): Show c.7862+145_7862+160delCTGACTTACAGTTAGC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	52/63			chrX	TogoVar
CFAP47_chrX_35914734_36390317	36336244	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp2 HG01884.hp2 HG02818.hp2	a0014 a0016 a0014 a0016	a0014c0070 a0016c0052 a0014c0070 a0016c0052	a0014c0070t0001 a0016c0052t0001 a0014c0070t0001 a0016c0052t0001	a0014c0070t0001g0138 a0016c0052t0001g0017 a0014c0070t0001g0138 a0016c0052t0001g0017	2	216	0.0093	-16	c.844 others(37): Show c.8444-11844_8444-11829delACACACACACACACAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	57/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36364901	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00621.hp1 others(28): Show HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG01109.hp1 HG01168.hp1 HG01257.hp2 HG01515.hp1 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG02615.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18954.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19057.hp1 NA19068.hp1 NA19074.hp2 NA19082.hp1	a0002 a0003 a0008 others(2): Show a0002 a0003 a0008 a0016 a0025	a0002c0002 a0002c0013 a0002c0067 others(6): Show a0002c0002 a0002c0013 a0002c0067 a0003c0004 a0003c0014 a0003c0053 a0008c0009 a0016c0055 a0025c0066	a0002c0002t0001 a0002c0013t0001 a0002c0067t0001 others(6): Show a0002c0002t0001 a0002c0013t0001 a0002c0067t0001 a0003c0004t0001 a0003c0014t0001 a0003c0053t0001 a0008c0009t0001 a0016c0055t0002 a0025c0066t0001	a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 others(28): Show a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0171 a0002c0013t0001g0126 a0002c0067t0001g0161 a0003c0004t0001g0041 a0003c0004t0001g0044 a0003c0004t0001g0059 a0003c0004t0001g0064 a0003c0004t0001g0067 a0003c0004t0001g0125 a0003c0014t0001g0098 a0003c0014t0001g0099 a0003c0053t0001g0056 a0008c0009t0001g0144 a0008c0009t0001g0148 a0008c0009t0001g0159 a0008c0009t0001g0164 a0008c0009t0001g0165 a0016c0055t0002g0191 a0025c0066t0001g0170	31	216	0.1435	-16	c.902 others(35): Show c.9024-2037_9024-2022delTATATATATATATATA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	61/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371699	CATGTGTA others(9): Show CATGTGTATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0197 a0010c0007t0001g0197	1	216	0.0046	-16	c.918 others(35): Show c.9185+4573_9185+4588delATGTGTATATATGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63			chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371771	CACACATG others(9): Show CACACATGTGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp2 HG02559.hp1 NA18906.hp2	a0034 a0046 a0034 a0046	a0034c0037 a0046c0047 a0034c0037 a0046c0047	a0034c0037t0001 a0046c0047t0001 a0034c0037t0001 a0046c0047t0001	a0034c0037t0001g0014 a0046c0047t0001g0049 a0034c0037t0001g0014 a0046c0047t0001g0049	2	216	0.0093	-16	c.918 others(35): Show c.9185+4645_9185+4660delACACATGTGTATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63			chrX	TogoVar
CFAP52_chr17_9571642_9648447	9596059	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG02922.hp1 others(2): Show HG02145.hp2 HG02630.hp2 HG02922.hp1 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0063 a0001c0002t0001g0070 a0001c0002t0001g0076 others(2): Show a0001c0002t0001g0063 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0005t0001g0074 a0001c0005t0001g0077	5	316	0.0158	-16	c.536 others(33): Show c.536+1766_536+1781delATATATATATATATAT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9630990	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0268 a0002c0001t0001g0268	1	316	0.0032	-16	c.117 others(35): Show c.1175-1872_1175-1857delAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9636237	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03491.hp2 HG03516.hp1 others(2): Show HG03017.hp1 HG03491.hp2 HG03516.hp1 HG04199.hp2 HG04228.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0046 a0002c0001t0001g0071 a0002c0001t0001g0079 others(2): Show a0002c0001t0001g0046 a0002c0001t0001g0071 a0002c0001t0001g0079 a0002c0001t0001g0082 a0002c0001t0001g0313	5	316	0.0158	-16	c.147 others(33): Show c.1472+683_1472+698delGAAAGAAAGAAAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9636239	GAAAGAAA others(9): Show GAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0177 a0006c0014t0001g0177	1	316	0.0032	-16	c.147 others(33): Show c.1472+685_1472+700delAAGAAAGAAAGAGAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237369	CACACACA others(9): Show CACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	402	0.0025	-16	c.131 others(35): Show c.1316+1218_1316+1233delATGTGTGTGTGTGTGT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96486137	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02630.hp1 HG02896.hp2 others(2): Show HG02004.hp2 HG02630.hp1 HG02896.hp2 HG03041.hp2 NA19030.hp2	a0001 a0007 a0019 others(1): Show a0001 a0007 a0019 a0047	a0001c0001 a0007c0019 a0019c0023 others(1): Show a0001c0001 a0007c0019 a0019c0023 a0047c0054	a0001c0001t0001 a0007c0019t0001 a0019c0023t0001 others(1): Show a0001c0001t0001 a0007c0019t0001 a0019c0023t0001 a0047c0054t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0007c0019t0001g0229 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0007c0019t0001g0229 a0019c0023t0001g0039 a0047c0054t0001g0105	5	268	0.0187	-16	c.-34 others(27): Show c.-3472_-3457delTTTCTTTCTTTCTTTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		3439		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96495238	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01515.hp1 others(14): Show HG01109.hp1 HG01109.hp2 HG01515.hp1 HG01517.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02683.hp2 HG03130.hp2 HG03486.hp1 HG03831.hp2 NA18971.hp2 NA18989.hp2 NA19063.hp2 NA19074.hp2 NA19079.hp1 NA19240.hp2	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0023 a0024 a0030 a0038 a0042	a0001c0001 a0001c0047 a0002c0003 others(7): Show a0001c0001 a0001c0047 a0002c0003 a0006c0006 a0006c0049 a0023c0026 a0024c0046 a0030c0064 a0038c0093 a0042c0092	a0001c0001t0001 a0001c0047t0001 a0002c0003t0001 others(8): Show a0001c0001t0001 a0001c0047t0001 a0002c0003t0001 a0002c0003t0002 a0006c0006t0001 a0006c0049t0001 a0023c0026t0001 a0024c0046t0001 a0030c0064t0001 a0038c0093t0001 a0042c0092t0001	a0001c0001t0001g0048 a0001c0047t0001g0045 a0002c0003t0001g0157 others(14): Show a0001c0001t0001g0048 a0001c0047t0001g0045 a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0006c0006t0001g0044 a0006c0049t0001g0043 a0023c0026t0001g0047 a0024c0046t0001g0046 a0030c0064t0001g0209 a0038c0093t0001g0158 a0042c0092t0001g0160	17	268	0.0634	-16	c.317 others(33): Show c.317+5351_317+5366delCTTCCTTCCTTCCTTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	1/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96512299	TTTTATAT others(9): Show TTTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03225.hp1 HG02630.hp1 HG03225.hp1	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0038 a0019c0023t0001g0039 a0019c0023t0001g0038 a0019c0023t0001g0039	2	268	0.0075	-16	c.740 others(31): Show c.740-685_740-670delTTATATATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	4/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96512301	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0056 a0056	a0056c0048 a0056c0048	a0056c0048t0001 a0056c0048t0001	a0056c0048t0001g0008 a0056c0048t0001g0008	1	268	0.0037	-16	c.740 others(31): Show c.740-651_740-636delATATATATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	4/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96535008	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18968.hp1 HG02083.hp2 NA18968.hp1	a0002 a0005 a0002 a0005	a0002c0032 a0005c0004 a0002c0032 a0005c0004	a0002c0032t0001 a0005c0004t0001 a0002c0032t0001 a0005c0004t0001	a0002c0032t0001g0222 a0005c0004t0001g0108 a0002c0032t0001g0222 a0005c0004t0001g0108	2	268	0.0075	-16	c.170 others(33): Show c.1706-477_1706-462delGTGTGTGTGTGTGTGT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	11/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96561704	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18949.hp1 NA18968.hp2 others(3): Show HG00423.hp2 NA18949.hp1 NA18968.hp2 NA19058.hp1 NA19064.hp2 NA19090.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0197 a0009c0008t0001g0198 a0009c0008t0001g0199 others(3): Show a0009c0008t0001g0197 a0009c0008t0001g0198 a0009c0008t0001g0199 a0009c0008t0001g0200 a0009c0008t0001g0201 a0009c0008t0001g0202	6	268	0.0224	-16	c.241 others(35): Show c.2411-2736_2411-2721delCACACACACACACACA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	17/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96621875	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0004 a0004	a0004c0042 a0004c0042	a0004c0042t0001 a0004c0042t0001	a0004c0042t0001g0094 a0004c0042t0001g0094	1	268	0.0037	-16	c.377 others(33): Show c.3771+171_3771+186delTTTTTTTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	27/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96638227	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0059 a0059	a0059c0060 a0059c0060	a0059c0060t0001 a0059c0060t0001	a0059c0060t0001g0005 a0059c0060t0001g0005	1	268	0.0037	-16	c.431 others(35): Show c.4317-5949_4317-5934delGTGTGTGTGTGTGTAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	32/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96638231	GTGTGTGT others(9): Show GTGTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp1 HG03098.hp1 others(1): Show HG02109.hp2 HG02896.hp1 HG03098.hp1 HG03579.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 others(1): Show a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 a0004c0011t0001g0120	4	268	0.0149	-16	c.431 others(35): Show c.4317-5945_4317-5930delGTGTGTGTGTATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	32/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96664622	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00741.hp2 others(15): Show HG00423.hp2 HG00558.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01256.hp1 HG01496.hp2 HG02735.hp1 HG03704.hp1 NA18949.hp1 NA18966.hp1 NA18968.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19090.hp1	a0009 a0010 a0022 others(4): Show a0009 a0010 a0022 a0024 a0033 a0045 a0062	a0009c0008 a0010c0013 a0022c0045 others(5): Show a0009c0008 a0010c0013 a0022c0045 a0022c0059 a0024c0046 a0033c0076 a0045c0057 a0062c0098	a0009c0008t0001 a0010c0013t0001 a0022c0045t0001 others(5): Show a0009c0008t0001 a0010c0013t0001 a0022c0045t0001 a0022c0059t0001 a0024c0046t0001 a0033c0076t0001 a0045c0057t0001 a0062c0098t0001	a0009c0008t0001g0197 a0009c0008t0001g0198 a0009c0008t0001g0199 others(15): Show a0009c0008t0001g0197 a0009c0008t0001g0198 a0009c0008t0001g0199 a0009c0008t0001g0200 a0009c0008t0001g0201 a0009c0008t0001g0202 a0009c0008t0001g0206 a0009c0008t0001g0207 a0010c0013t0001g0185 a0010c0013t0001g0187 a0010c0013t0001g0188 a0010c0013t0001g0189 a0022c0045t0001g0081 a0022c0059t0001g0092 a0024c0046t0001g0046 a0033c0076t0001g0179 a0045c0057t0001g0106 a0062c0098t0001g0208	18	268	0.0672	-16	c.556 others(33): Show c.5563+710_5563+725delGTGTGTGTGTGTGTGT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96704452	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0023 a0023	a0023c0026 a0023c0026	a0023c0026t0001 a0023c0026t0001	a0023c0026t0001g0047 a0023c0026t0001g0047	1	268	0.0037	-16	c.647 others(33): Show c.6475-257_6475-242delATATATATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	46/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96806159	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG01952.hp1 others(5): Show HG01081.hp1 HG01192.hp1 HG01952.hp1 HG02896.hp2 HG02922.hp2 HG03490.hp1 NA18522.hp1 NA19030.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0001 a0002c0007 a0008c0009 others(1): Show a0001c0001 a0002c0007 a0008c0009 a0011c0069	a0001c0001t0001 a0002c0007t0001 a0008c0009t0001 others(1): Show a0001c0001t0001 a0002c0007t0001 a0008c0009t0001 a0011c0069t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0002c0007t0001g0125 a0008c0009t0001g0019 a0011c0069t0001g0261	8	268	0.0299	-16	c.885 others(35): Show c.8851-5537_8851-5522delTATATATATATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	63/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104396369	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp1 HG02630.hp1 others(2): Show HG01109.hp1 HG01257.hp1 HG02630.hp1 HG03453.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0098 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0127 a0001c0001t0001g0289	5	308	0.0162	-16	c.167 others(35): Show c.1675-2936_1675-2921delGAGAGAGAGAGAGAGA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20106000	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01517.hp1 HG01884.hp2 others(7): Show HG00735.hp1 HG01517.hp1 HG01884.hp2 HG02451.hp2 HG02630.hp2 HG03017.hp2 HG03669.hp2 HG03834.hp2 NA18906.hp2 NA18969.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0002c0034 a0003c0005	a0001c0001t0003 a0001c0001t0007 a0001c0006t0002 others(6): Show a0001c0001t0003 a0001c0001t0007 a0001c0006t0002 a0001c0006t0006 a0002c0002t0001 a0002c0002t0004 a0002c0034t0002 a0003c0005t0001 a0003c0005t0002	a0001c0001t0003g0060 a0001c0001t0007g0008 a0001c0006t0002g0224 others(7): Show a0001c0001t0003g0060 a0001c0001t0007g0008 a0001c0006t0002g0224 a0001c0006t0006g0011 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0004g0012 a0002c0034t0002g0034 a0003c0005t0001g0080 a0003c0005t0002g0069	10	236	0.0424	-16	c.859 others(33): Show c.859+7221_859+7236delTATATATATATATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20118253	GTTTCTTT others(9): Show GTTTCTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00738.hp1 others(29): Show HG00323.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01099.hp2 HG01192.hp2 HG01361.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG02109.hp1 HG02135.hp2 HG02293.hp2 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG03098.hp1 HG03239.hp2 HG03669.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 NA18943.hp1 NA18962.hp1 NA18971.hp1 NA19081.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0017 a0021 a0023	a0001c0001 a0001c0003 a0001c0015 others(7): Show a0001c0001 a0001c0003 a0001c0015 a0001c0027 a0002c0022 a0002c0035 a0003c0005 a0017c0037 a0021c0041 a0023c0044	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0015t0002 a0001c0027t0001 a0002c0022t0002 a0002c0035t0001 a0003c0005t0001 a0003c0005t0002 a0017c0037t0005 a0021c0041t0001 a0023c0044t0001	a0001c0001t0001g0082 a0001c0001t0001g0169 a0001c0001t0001g0206 others(29): Show a0001c0001t0001g0082 a0001c0001t0001g0169 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0002g0042 a0001c0001t0002g0158 a0001c0001t0002g0173 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0003t0001g0031 a0001c0003t0001g0076 a0001c0003t0001g0096 a0001c0003t0001g0199 a0001c0003t0001g0211 a0001c0003t0001g0214 a0001c0003t0001g0221 a0001c0003t0002g0112 a0001c0015t0002g0201 a0001c0027t0001g0170 a0002c0022t0002g0049 a0002c0035t0001g0204 a0003c0005t0001g0217 a0003c0005t0002g0062 a0003c0005t0002g0070 a0017c0037t0005g0138 a0021c0041t0001g0210 a0023c0044t0001g0058	32	236	0.1356	-16	c.859 others(35): Show c.859+19479_859+19494delCTTTCTTTCTTTCTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP65_chr2_218997846_219046516	219043899	TCTCTCAC others(9): Show TCTCTCACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01928.hp1 HG01978.hp2 others(6): Show HG00140.hp2 HG01928.hp1 HG01978.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 NA18942.hp2 NA19076.hp1 NA20905.hp2	a0003 a0021 a0003 a0021	a0003c0003 a0021c0022 a0003c0003 a0021c0022	a0003c0003t0002 a0021c0022t0001 a0003c0003t0002 a0021c0022t0001	a0003c0003t0002g0005 a0003c0003t0002g0008 a0003c0003t0002g0016 others(5): Show a0003c0003t0002g0005 a0003c0003t0002g0008 a0003c0003t0002g0016 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0002g0088 a0003c0003t0002g0089 a0021c0022t0001g0182	9	322	0.0280	-16	c.-24 others(27): Show c.-2476_-2461delTGTGTGTGTGTGAGAG	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding		2384		chr2	TogoVar
CFAP65_chr2_218997846_219046516	219043920	TACACACA others(9): Show TACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02809.hp1 NA18988.hp1 others(1): Show HG00558.hp2 HG02809.hp1 NA18988.hp1 NA19082.hp1	a0002 a0007 a0023 others(1): Show a0002 a0007 a0023 a0033	a0002c0002 a0007c0006 a0023c0027 others(1): Show a0002c0002 a0007c0006 a0023c0027 a0033c0037	a0002c0002t0001 a0007c0006t0001 a0023c0027t0001 others(1): Show a0002c0002t0001 a0007c0006t0001 a0023c0027t0001 a0033c0037t0001	a0002c0002t0001g0231 a0007c0006t0001g0013 a0023c0027t0001g0227 others(1): Show a0002c0002t0001g0231 a0007c0006t0001g0013 a0023c0027t0001g0227 a0033c0037t0001g0258	4	322	0.0124	-16	c.-24 others(27): Show c.-2497_-2482delGTGTGTGTGTGTGTGT	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding		2405		chr2	TogoVar
CFAP68_chr11_111874541_111890975	111886719	CATATATA others(9): Show CATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(96): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00558.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02071.hp2 HG02083.hp2 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18951.hp1 NA18956.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19054.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0002t0016 a0001c0002t0017	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0002g0001 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0002g0001 a0001c0001t0012g0003 a0001c0001t0013g0003 a0001c0002t0003g0002 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0034 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0005g0002 a0001c0002t0011g0002 a0001c0002t0016g0002 a0001c0002t0017g0002	99	392	0.2526	-16	c.28 others(27): Show c.2840_*2855delATATATATATATATAT	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		745		chr11	TogoVar
CFAP69_chr7_90240174_90316063	90250187	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(99): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0002 a0001c0004 a0001c0006 others(5): Show a0001c0002 a0001c0004 a0001c0006 a0001c0012 a0001c0014 a0002c0001 a0006c0010 a0010c0018	a0001c0002t0002 a0001c0004t0002 a0001c0006t0001 others(5): Show a0001c0002t0002 a0001c0004t0002 a0001c0006t0001 a0001c0012t0002 a0001c0014t0002 a0002c0001t0001 a0006c0010t0002 a0010c0018t0002	a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 others(90): Show a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0234 a0001c0004t0002g0012 a0001c0004t0002g0013 a0001c0004t0002g0164 a0001c0004t0002g0168 a0001c0004t0002g0208 a0001c0004t0002g0209 a0001c0004t0002g0210 a0001c0004t0002g0211 a0001c0004t0002g0212 a0001c0004t0002g0213 a0001c0004t0002g0216 a0001c0004t0002g0217 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0004t0002g0220 a0001c0004t0002g0221 a0001c0004t0002g0222 a0001c0004t0002g0223 a0001c0004t0002g0224 a0001c0004t0002g0225 a0001c0004t0002g0226 a0001c0004t0002g0227 a0001c0004t0002g0229 a0001c0004t0002g0230 a0001c0004t0002g0231 a0001c0004t0002g0232 a0001c0004t0002g0233 a0001c0006t0001g0242 a0001c0012t0002g0201 a0001c0014t0002g0214 a0001c0014t0002g0215 a0002c0001t0001g0016 a0002c0001t0001g0166 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0281 a0002c0001t0001g0282 a0006c0010t0002g0002 a0006c0010t0002g0228 a0010c0018t0002g0175	102	338	0.3018	-16	c.120 others(33): Show c.120+4676_120+4691delGAGAGAGAGAGAGAGA	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP69_chr7_90240174_90316063	90264100	AAAAAATA others(9): Show AAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0002 a0008c0015t0002	a0008c0015t0002g0247 a0008c0015t0002g0247	1	338	0.0030	-16	c.357 others(33): Show c.357-1199_357-1184delAAAATATATATATATA	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP69_chr7_90240174_90316063	90264104	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01934.hp1 HG01993.hp2 others(15): Show HG00438.hp1 HG01934.hp1 HG01993.hp2 HG02071.hp1 HG02071.hp2 HG02135.hp2 HG02155.hp2 HG02300.hp2 HG02922.hp1 NA18612.hp2 NA18948.hp2 NA18969.hp1 NA18986.hp2 NA18994.hp1 NA19006.hp2 NA19064.hp1 NA19066.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0008c0015 a0002c0001 a0008c0015	a0002c0001t0001 a0008c0015t0002 a0002c0001t0001 a0008c0015t0002	a0002c0001t0001g0006 a0002c0001t0001g0040 a0002c0001t0001g0069 others(14): Show a0002c0001t0001g0006 a0002c0001t0001g0040 a0002c0001t0001g0069 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0079 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0096 a0008c0015t0002g0248	18	338	0.0533	-16	c.357 others(33): Show c.357-1166_357-1151delATATATATATATATAT	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP70_chr10_73248762_73363864	73279523	CAATAAAT others(9): Show CAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	220	0.0046	-16	c.245 others(35): Show c.2450-1202_2450-1187delTATTTATTTATTTATT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73279556	AATAAATA others(9): Show AATAAATAAATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA20129.hp1 HG02965.hp2 NA20129.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0017 a0004c0004t0001g0019 a0004c0004t0001g0017 a0004c0004t0001g0019	2	220	0.0091	-16	c.245 others(35): Show c.2450-1235_2450-1220delATATTTATTTATTTAT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73284739	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02896.hp2 others(2): Show HG02451.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0103 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0103 a0001c0001t0001g0199 a0001c0001t0001g0219	5	220	0.0227	-16	c.245 others(35): Show c.2450-6418_2450-6403delATATATATATATATAT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73287852	CATCTATC others(9): Show CATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	220	0.0046	-16	c.244 others(35): Show c.2449+3358_2449+3373delAGATAGATAGATAGAT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73295314	GGAGAAAG others(9): Show GGAGAAAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01346.hp2 HG02257.hp2 HG01074.hp1 HG01346.hp2 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0020 a0004c0004t0001g0027 a0004c0004t0001g0028 a0004c0004t0001g0020 a0004c0004t0001g0027 a0004c0004t0001g0028	3	220	0.0136	-16	c.185 others(35): Show c.1854+1712_1854+1727delTCTCTCTCTCTTTCTC	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	16/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73295353	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG01891.hp2 others(12): Show HG00735.hp1 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02818.hp1 HG03098.hp2 HG03516.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0006 a0003c0003 a0012c0007 a0002c0006 a0003c0003 a0012c0007	a0002c0006t0001 a0003c0003t0002 a0012c0007t0002 a0002c0006t0001 a0003c0003t0002 a0012c0007t0002	a0002c0006t0001g0016 a0003c0003t0002g0002 a0003c0003t0002g0003 others(12): Show a0002c0006t0001g0016 a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0012c0007t0002g0015	15	220	0.0682	-16	c.185 others(35): Show c.1854+1673_1854+1688delCCCTTCCTTCCTTCCT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	16/27			chr10	TogoVar

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