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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CFAP221_chr2_119539449_119661661	119627649	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	226	0.0044	0	c.151 others(6): Show c.1517-4A>G		CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	15/23					chr2	TogoVar
CFAP251_chr12_121913592_122008919	121923624	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0225 a0014c0023t0001g0225	1	354	0.0028	0	c.381 others(3): Show c.381A>C	p.Lys others(6): Show p.Lys127Asn	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/22	505/3729	381/3450	127/1149		chr12	TogoVar
CFAP251_chr12_121913592_122008919	121934354	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18942.hp1 NA18978.hp1 NA18981.hp1 others(3): Show NA18942.hp1 NA18978.hp1 NA18981.hp1 NA18999.hp1 NA19055.hp2 NA19082.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0058 a0003c0009t0001g0059 a0003c0009t0001g0060 others(3): Show a0003c0009t0001g0058 a0003c0009t0001g0059 a0003c0009t0001g0060 a0003c0009t0001g0061 a0003c0009t0001g0062 a0003c0009t0001g0063	6	354	0.0170	0	c.996 others(3): Show c.996A>G	p.Thr others(6): Show p.Thr332Thr	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	5/22	1120/3729	996/3450	332/1149		chr12	TogoVar
CFAP251_chr12_121913592_122008919	121968006	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(110): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03225.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp1 NA20805.hp1	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0001 a0001c0021 a0008c0010 others(1): Show a0001c0001 a0001c0021 a0008c0010 a0010c0022	a0001c0001t0001 a0001c0021t0001 a0008c0010t0001 others(1): Show a0001c0001t0001 a0001c0021t0001 a0008c0010t0001 a0010c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0001t0001g0112 others(109): Show a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0021t0001g0202 a0008c0010t0001g0065 a0008c0010t0001g0066 a0008c0010t0001g0217 a0008c0010t0001g0329 a0010c0022t0001g0115	113	354	0.3192	0	c.260 others(4): Show c.2608G>T	p.Val others(6): Show p.Val870Leu	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	17/22	2732/3729	2608/3450	870/1149		chr12	TogoVar
CFAP298_chr21_32594354_32617377	32602266	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02109.hp2 HG02257.hp2 others(1): Show HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0040 a0001c0002t0041 a0001c0002t0022 a0001c0002t0040 a0001c0002t0041	a0001c0002t0022g0216 a0001c0002t0022g0218 a0001c0002t0040g0217 others(1): Show a0001c0002t0022g0216 a0001c0002t0022g0218 a0001c0002t0040g0217 a0001c0002t0041g0215	4	416	0.0096	0	c.762 others(5): Show c.762+6A>G		CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	6/6					chr21	TogoVar
CFAP298_chr21_32594354_32617377	32603156	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0196 a0001c0001t0008g0196	1	416	0.0024	0	c.666 others(5): Show c.666+5G>A		CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	5/6					chr21	TogoVar
CFAP299_chr4_80330730_80968750	80583182	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0085 a0003c0008t0001g0085	1	96	0.0104	0	c.332 others(3): Show c.332G>A	p.Ser others(6): Show p.Ser111Asn	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/6	371/879	332/702	111/233		chr4	TogoVar
CFAP36_chr2_55514718_55550079	55544894	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02258.hp1 HG02717.hp2 others(6): Show HG01884.hp1 HG02258.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0108 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0108 a0001c0001t0001g0137 a0001c0001t0001g0138 a0003c0003t0001g0179	9	400	0.0225	1	c.928 others(6): Show c.928-4dupT		CFAP36	ENSG00000163001.12	transcript	ENST00000349456.9	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP418_chr8_95239913_95274201	95269027	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	388	0.0026	0	c.155 others(5): Show c.155+8G>A		CFAP418	ENSG00000156172.6	transcript	ENST00000286688.6	protein_coding	1/5					chr8	TogoVar
CFAP43_chr10_104124888_104237364	104140843	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0001 a0007c0025t0001	a0007c0025t0001g0039 a0007c0025t0001g0039	1	306	0.0033	0	c.443 others(4): Show c.4430G>A	p.Arg others(7): Show p.Arg1477Gln	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	34/38	4548/5367	4430/4998	1477/1665		chr10	TogoVar
CFAP43_chr10_104124888_104237364	104161168	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	306	0.0033	0	c.341 others(6): Show c.3415-6C>A		CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	26/37					chr10	TogoVar
CFAP43_chr10_104124888_104237364	104168847	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03139.hp1 HG03139.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0065 a0015c0015t0001g0065	1	306	0.0033	0	c.258 others(4): Show c.2588T>C	p.Met others(6): Show p.Met863Thr	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	21/38	2706/5367	2588/4998	863/1665		chr10	TogoVar
CFAP43_chr10_104124888_104237364	104182517	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG02630.hp2 HG02647.hp1 others(1): Show HG01175.hp1 HG02630.hp2 HG02647.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0006t0001g0013 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0006t0001g0013 a0001c0006t0001g0014	4	306	0.0131	0	c.214 others(6): Show c.2142-4A>G		CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	16/37					chr10	TogoVar
CFAP44_chr3_113281930_113446493	113291755	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02145.hp1 HG02630.hp2 others(7): Show HG02055.hp1 HG02145.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 NA19043.hp1	a0008 a0011 a0020 others(1): Show a0008 a0011 a0020 a0026	a0008c0010 a0011c0017 a0020c0020 others(1): Show a0008c0010 a0011c0017 a0020c0020 a0026c0042	a0008c0010t0027 a0008c0010t0042 a0008c0010t0043 others(4): Show a0008c0010t0027 a0008c0010t0042 a0008c0010t0043 a0011c0017t0028 a0011c0017t0041 a0020c0020t0011 a0026c0042t0078	a0008c0010t0027g0048 a0008c0010t0027g0283 a0008c0010t0042g0049 others(6): Show a0008c0010t0027g0048 a0008c0010t0027g0283 a0008c0010t0042g0049 a0008c0010t0043g0050 a0011c0017t0028g0277 a0011c0017t0028g0278 a0011c0017t0041g0041 a0020c0020t0011g0005 a0026c0042t0078g0320	10	348	0.0287	0	c.537 others(6): Show c.5374-7T>C		CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	34/34					chr3	TogoVar
CFAP44_chr3_113281930_113446493	113305155	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 NA18939.hp2 NA18944.hp2 others(15): Show HG00408.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18957.hp2 NA18977.hp2 NA18998.hp2 NA19012.hp1 NA19066.hp1 NA19067.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19088.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0005 a0027 a0005 a0027	a0005c0005 a0027c0044 a0005c0005 a0027c0044	a0005c0005t0010 a0005c0005t0012 a0005c0005t0015 others(4): Show a0005c0005t0010 a0005c0005t0012 a0005c0005t0015 a0005c0005t0046 a0005c0005t0054 a0005c0005t0059 a0027c0044t0010	a0005c0005t0010g0007 a0005c0005t0010g0008 a0005c0005t0010g0009 others(15): Show a0005c0005t0010g0007 a0005c0005t0010g0008 a0005c0005t0010g0009 a0005c0005t0010g0014 a0005c0005t0010g0015 a0005c0005t0010g0018 a0005c0005t0010g0053 a0005c0005t0012g0012 a0005c0005t0015g0010 a0005c0005t0015g0011 a0005c0005t0015g0013 a0005c0005t0015g0017 a0005c0005t0015g0020 a0005c0005t0015g0021 a0005c0005t0046g0019 a0005c0005t0054g0016 a0005c0005t0059g0022 a0027c0044t0010g0297	18	348	0.0517	0	c.475 others(6): Show c.4759-3C>T		CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	30/34					chr3	TogoVar
CFAP44_chr3_113281930_113446493	113333398	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02145.hp1	a0026 a0026	a0026c0042 a0026c0042	a0026c0042t0078 a0026c0042t0078	a0026c0042t0078g0320 a0026c0042t0078g0320	1	348	0.0029	0	c.361 others(6): Show c.3615+8T>C		CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	25/34					chr3	TogoVar
CFAP44_chr3_113281930_113446493	113420186	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02145.hp1	a0026 a0026	a0026c0042 a0026c0042	a0026c0042t0078 a0026c0042t0078	a0026c0042t0078g0320 a0026c0042t0078g0320	1	348	0.0029	0	c.408 others(5): Show c.408-7C>G		CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	4/34					chr3	TogoVar
CFAP45_chr1_159867364_159905165	159884572	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02717.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0112 a0009c0011t0001g0112	1	410	0.0024	0	c.768 others(5): Show c.768-7C>T		CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	6/11					chr1	TogoVar
CFAP45_chr1_159867364_159905165	159888493	A A	AACACTGA others(49): Show AACACTGACACAAGAATAAACAGAGTTAGGGAGGGGAGAGGGAAAGCTCT CAGCACC	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG01261.hp2 HG01261.hp2	a0016 a0016	a0016c0012 a0016c0012	a0016c0012t0001 a0016c0012t0001	a0016c0012t0001g0091 a0016c0012t0001g0091	1	410	0.0024	56	c.275 others(63): Show c.275_276insGGTGCTGAGAGCTTTCCCTCTCCCCTCCCTAACTCTGT TTATTCTTGTGTCAGTGT	p.Pro others(4): Show p.Pro93fs	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	4/12	342/1844	275/1656	92/551		chr1	TogoVar
CFAP45_chr1_159867364_159905165	159888500	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01099.hp2 HG01261.hp2 others(55): Show HG00735.hp2 HG01099.hp2 HG01261.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18945.hp2 NA18947.hp1 NA18963.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA19055.hp1 NA19058.hp1 NA19067.hp2 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0015 a0016	a0001c0001 a0002c0003 a0004c0005 others(3): Show a0001c0001 a0002c0003 a0004c0005 a0008c0010 a0015c0017 a0016c0012	a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 a0008c0010t0001 a0015c0017t0001 a0016c0012t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 others(33): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0002c0003t0001g0005 a0002c0003t0001g0018 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0090 a0004c0005t0001g0008 a0004c0005t0001g0080 a0004c0005t0001g0082 a0008c0010t0001g0070 a0008c0010t0001g0071 a0015c0017t0001g0085 a0016c0012t0001g0091	58	410	0.1415	0	c.273 others(5): Show c.273-4A>T		CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	3/11					chr1	TogoVar
CFAP46_chr10_132803392_132947570	132808392	T T	C C	splice_region_variant splice_region_variant	LOW	HG01169.hp1 HG01169.hp1	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0003 a0025c0033t0003	a0025c0033t0003g0237 a0025c0033t0003g0237	1	246	0.0041	0	c.29 others(3): Show c.29A>G		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	58/58					chr10	TogoVar
CFAP46_chr10_132803392_132947570	132808904	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19067.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0004 others(59): Show a0000 a0001 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0027 a0028 a0029 a0031 a0032 a0034 a0037 a0038 a0040 a0041 a0042 a0043 a0045 a0046 a0048 a0049 a0050 a0052 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074	a0000c0087 a0001c0001 a0001c0029 others(85): Show a0000c0087 a0001c0001 a0001c0029 a0001c0030 a0001c0032 a0001c0085 a0001c0096 a0004c0005 a0004c0019 a0004c0038 a0004c0052 a0005c0006 a0005c0013 a0005c0039 a0005c0047 a0006c0004 a0008c0009 a0008c0097 a0009c0018 a0009c0021 a0009c0043 a0010c0011 a0010c0072 a0011c0010 a0012c0025 a0012c0073 a0012c0076 a0013c0022 a0013c0061 a0014c0014 a0015c0015 a0016c0031 a0016c0095 a0017c0026 a0017c0094 a0018c0024 a0019c0020 a0020c0017 a0021c0016 a0022c0041 a0022c0042 a0023c0058 a0023c0062 a0024c0036 a0024c0060 a0026c0078 a0026c0081 a0027c0034 a0027c0103 a0028c0027 a0029c0099 a0029c0100 a0031c0065 a0032c0063 a0034c0044 a0037c0056 a0038c0037 a0040c0050 a0041c0049 a0042c0053 a0043c0040 a0045c0059 a0046c0064 a0048c0107 a0049c0106 a0050c0104 a0052c0067 a0054c0091 a0055c0086 a0056c0089 a0057c0088 a0058c0090 a0059c0082 a0060c0084 a0061c0092 a0062c0093 a0063c0079 a0064c0101 a0065c0102 a0066c0077 a0067c0069 a0068c0071 a0069c0070 a0070c0074 a0071c0098 a0072c0075 a0073c0108 a0074c0109	a0000c0087t0002 a0001c0001t0002 a0001c0029t0002 others(87): Show a0000c0087t0002 a0001c0001t0002 a0001c0029t0002 a0001c0030t0002 a0001c0032t0002 a0001c0085t0002 a0001c0096t0002 a0004c0005t0001 a0004c0005t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0005c0006t0001 a0005c0013t0001 a0005c0039t0001 a0005c0047t0001 a0006c0004t0002 a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 a0009c0018t0001 a0009c0021t0001 a0009c0043t0001 a0010c0011t0001 a0010c0072t0002 a0011c0010t0001 a0012c0025t0002 a0012c0073t0002 a0012c0076t0001 a0013c0022t0001 a0013c0061t0001 a0014c0014t0002 a0015c0015t0002 a0016c0031t0002 a0016c0095t0002 a0017c0026t0002 a0017c0094t0001 a0018c0024t0001 a0019c0020t0001 a0020c0017t0001 a0021c0016t0001 a0022c0041t0001 a0022c0042t0001 a0023c0058t0001 a0023c0062t0001 a0024c0036t0001 a0024c0060t0001 a0026c0078t0002 a0026c0081t0002 a0027c0034t0002 a0027c0103t0002 a0028c0027t0002 a0029c0099t0002 a0029c0100t0002 a0031c0065t0001 a0032c0063t0001 a0034c0044t0001 a0037c0056t0001 a0038c0037t0001 a0040c0050t0001 a0041c0049t0001 a0042c0053t0001 a0043c0040t0001 a0045c0059t0001 a0046c0064t0001 a0048c0107t0002 a0049c0106t0002 a0050c0104t0001 a0052c0067t0002 a0054c0091t0002 a0055c0086t0002 a0056c0089t0001 a0057c0088t0002 a0058c0090t0002 a0059c0082t0002 a0060c0084t0002 a0061c0092t0001 a0062c0093t0001 a0063c0079t0002 a0064c0101t0002 a0065c0102t0002 a0066c0077t0001 a0067c0069t0002 a0068c0071t0002 a0069c0070t0002 a0070c0074t0002 a0071c0098t0002 a0072c0075t0001 a0073c0108t0002 a0074c0109t0002	a0000c0087t0002g0112 a0001c0001t0002g0011 a0001c0001t0002g0024 others(170): Show a0000c0087t0002g0112 a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0115 a0001c0029t0002g0009 a0001c0029t0002g0010 a0001c0030t0002g0039 a0001c0030t0002g0091 a0001c0032t0002g0038 a0001c0032t0002g0040 a0001c0085t0002g0096 a0001c0096t0002g0035 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0005c0006t0001g0129 a0005c0006t0001g0132 a0005c0006t0001g0133 a0005c0006t0001g0152 a0005c0006t0001g0153 a0005c0006t0001g0201 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0005c0039t0001g0165 a0005c0047t0001g0216 a0006c0004t0002g0027 a0006c0004t0002g0106 a0006c0004t0002g0107 a0006c0004t0002g0108 a0006c0004t0002g0109 a0006c0004t0002g0110 a0006c0004t0002g0111 a0006c0004t0002g0113 a0006c0004t0002g0116 a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 a0008c0009t0001g0124 a0008c0009t0002g0101 a0008c0097t0001g0118 a0009c0018t0001g0172 a0009c0018t0001g0228 a0009c0021t0001g0243 a0009c0021t0001g0244 a0009c0043t0001g0155 a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0010c0072t0002g0004 a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0012c0025t0002g0007 a0012c0025t0002g0014 a0012c0073t0002g0005 a0012c0076t0001g0131 a0013c0022t0001g0157 a0013c0022t0001g0158 a0013c0061t0001g0156 a0014c0014t0002g0081 a0014c0014t0002g0082 a0014c0014t0002g0083 a0015c0015t0002g0044 a0015c0015t0002g0061 a0015c0015t0002g0063 a0016c0031t0002g0030 a0016c0031t0002g0072 a0016c0095t0002g0114 a0017c0026t0002g0097 a0017c0026t0002g0099 a0017c0094t0001g0119 a0018c0024t0001g0211 a0018c0024t0001g0212 a0019c0020t0001g0149 a0019c0020t0001g0150 a0020c0017t0001g0147 a0020c0017t0001g0148 a0021c0016t0001g0170 a0021c0016t0001g0171 a0022c0041t0001g0168 a0022c0042t0001g0166 a0023c0058t0001g0154 a0023c0062t0001g0210 a0024c0036t0001g0169 a0024c0060t0001g0173 a0026c0078t0002g0033 a0026c0081t0002g0098 a0027c0034t0002g0021 a0027c0103t0002g0078 a0028c0027t0002g0028 a0028c0027t0002g0077 a0029c0099t0002g0017 a0029c0100t0002g0019 a0031c0065t0001g0232 a0032c0063t0001g0213 a0034c0044t0001g0193 a0037c0056t0001g0136 a0038c0037t0001g0230 a0040c0050t0001g0178 a0041c0049t0001g0176 a0042c0053t0001g0191 a0043c0040t0001g0174 a0045c0059t0001g0167 a0046c0064t0001g0214 a0048c0107t0002g0103 a0049c0106t0002g0102 a0050c0104t0001g0236 a0052c0067t0002g0013 a0054c0091t0002g0026 a0055c0086t0002g0020 a0056c0089t0001g0117 a0057c0088t0002g0042 a0058c0090t0002g0043 a0059c0082t0002g0100 a0060c0084t0002g0053 a0061c0092t0001g0125 a0062c0093t0001g0121 a0063c0079t0002g0089 a0064c0101t0002g0022 a0065c0102t0002g0018 a0066c0077t0001g0127 a0067c0069t0002g0015 a0068c0071t0002g0003 a0069c0070t0002g0008 a0070c0074t0002g0006 a0071c0098t0002g0023 a0072c0075t0001g0235 a0073c0108t0002g0094 a0074c0109t0002g0104	173	246	0.7033	0	c.766 others(4): Show c.7665A>G	p.Arg others(7): Show p.Arg2555Arg	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	58/58	7751/8263	7665/8148	2555/2715		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132834775	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(6): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00733.hp1 NA18940.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA19060.hp2	a0011 a0019 a0037 others(2): Show a0011 a0019 a0037 a0053 a0057	a0011c0010 a0019c0020 a0037c0056 others(2): Show a0011c0010 a0019c0020 a0037c0056 a0053c0068 a0057c0088	a0011c0010t0001 a0019c0020t0001 a0037c0056t0001 others(2): Show a0011c0010t0001 a0019c0020t0001 a0037c0056t0001 a0053c0068t0002 a0057c0088t0002	a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 others(6): Show a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0019c0020t0001g0149 a0019c0020t0001g0150 a0037c0056t0001g0136 a0053c0068t0002g0012 a0057c0088t0002g0042	9	246	0.0366	0	c.674 others(4): Show c.6745G>A	p.Glu others(7): Show p.Glu2249Lys	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	48/58	6831/8263	6745/8148	2249/2715		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132836809	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01243.hp1 HG01891.hp2 others(13): Show HG01069.hp1 HG01243.hp1 HG01891.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG03453.hp1 HG03486.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp2	a0017 a0021 a0022 others(8): Show a0017 a0021 a0022 a0026 a0043 a0049 a0059 a0067 a0068 a0069 a0074	a0017c0026 a0017c0094 a0021c0016 others(11): Show a0017c0026 a0017c0094 a0021c0016 a0022c0041 a0022c0042 a0026c0078 a0026c0081 a0043c0040 a0049c0106 a0059c0082 a0067c0069 a0068c0071 a0069c0070 a0074c0109	a0017c0026t0002 a0017c0094t0001 a0021c0016t0001 others(11): Show a0017c0026t0002 a0017c0094t0001 a0021c0016t0001 a0022c0041t0001 a0022c0042t0001 a0026c0078t0002 a0026c0081t0002 a0043c0040t0001 a0049c0106t0002 a0059c0082t0002 a0067c0069t0002 a0068c0071t0002 a0069c0070t0002 a0074c0109t0002	a0017c0026t0002g0097 a0017c0026t0002g0099 a0017c0094t0001g0119 others(13): Show a0017c0026t0002g0097 a0017c0026t0002g0099 a0017c0094t0001g0119 a0021c0016t0001g0170 a0021c0016t0001g0171 a0022c0041t0001g0168 a0022c0042t0001g0166 a0026c0078t0002g0033 a0026c0081t0002g0098 a0043c0040t0001g0174 a0049c0106t0002g0102 a0059c0082t0002g0100 a0067c0069t0002g0015 a0068c0071t0002g0003 a0069c0070t0002g0008 a0074c0109t0002g0104	16	246	0.0650	0	c.653 others(6): Show c.6536+8C>T		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	45/57					chr10	TogoVar
CFAP46_chr10_132803392_132947570	132847182	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02630.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0007 a0012c0025t0002g0007	1	246	0.0041	0	c.608 others(6): Show c.6087+5G>A		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	42/57					chr10	TogoVar
CFAP46_chr10_132803392_132947570	132857590	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01069.hp1 HG01243.hp1 HG01891.hp2 others(12): Show HG01069.hp1 HG01243.hp1 HG01891.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG03453.hp1 HG03486.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp2	a0017 a0021 a0022 others(7): Show a0017 a0021 a0022 a0026 a0043 a0049 a0059 a0068 a0069 a0074	a0017c0026 a0017c0094 a0021c0016 others(10): Show a0017c0026 a0017c0094 a0021c0016 a0022c0041 a0022c0042 a0026c0078 a0026c0081 a0043c0040 a0049c0106 a0059c0082 a0068c0071 a0069c0070 a0074c0109	a0017c0026t0002 a0017c0094t0001 a0021c0016t0001 others(10): Show a0017c0026t0002 a0017c0094t0001 a0021c0016t0001 a0022c0041t0001 a0022c0042t0001 a0026c0078t0002 a0026c0081t0002 a0043c0040t0001 a0049c0106t0002 a0059c0082t0002 a0068c0071t0002 a0069c0070t0002 a0074c0109t0002	a0017c0026t0002g0097 a0017c0026t0002g0099 a0017c0094t0001g0119 others(12): Show a0017c0026t0002g0097 a0017c0026t0002g0099 a0017c0094t0001g0119 a0021c0016t0001g0170 a0021c0016t0001g0171 a0022c0041t0001g0168 a0022c0042t0001g0166 a0026c0078t0002g0033 a0026c0081t0002g0098 a0043c0040t0001g0174 a0049c0106t0002g0102 a0059c0082t0002g0100 a0068c0071t0002g0003 a0069c0070t0002g0008 a0074c0109t0002g0104	15	246	0.0610	0	c.557 others(4): Show c.5574C>G	p.Asp others(7): Show p.Asp1858Glu	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/58	5660/8263	5574/8148	1858/2715		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132899672	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(6): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00733.hp1 HG01081.hp2 HG02055.hp1 NA18940.hp2 NA18960.hp2 NA18980.hp1	a0003 a0011 a0019 others(2): Show a0003 a0011 a0019 a0035 a0037	a0003c0007 a0011c0010 a0019c0020 others(2): Show a0003c0007 a0011c0010 a0019c0020 a0035c0057 a0037c0056	a0003c0007t0002 a0011c0010t0001 a0019c0020t0001 others(2): Show a0003c0007t0002 a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 a0037c0056t0001	a0003c0007t0002g0056 a0011c0010t0001g0197 a0011c0010t0001g0198 others(6): Show a0003c0007t0002g0056 a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0019c0020t0001g0149 a0019c0020t0001g0150 a0035c0057t0001g0234 a0037c0056t0001g0136	9	246	0.0366	0	c.292 others(6): Show c.2925-6C>T		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	22/57					chr10	TogoVar
CFAP46_chr10_132803392_132947570	132920053	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp1 HG01891.hp1 HG02145.hp2 others(4): Show HG01261.hp1 HG01891.hp1 HG02145.hp2 HG02559.hp1 HG03225.hp2 HG06807.hp2 NA20129.hp2	a0005 a0009 a0013 a0005 a0009 a0013	a0005c0013 a0005c0047 a0009c0043 others(2): Show a0005c0013 a0005c0047 a0009c0043 a0013c0022 a0013c0061	a0005c0013t0001 a0005c0047t0001 a0009c0043t0001 others(2): Show a0005c0013t0001 a0005c0047t0001 a0009c0043t0001 a0013c0022t0001 a0013c0061t0001	a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0047t0001g0216 others(4): Show a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0047t0001g0216 a0009c0043t0001g0155 a0013c0022t0001g0157 a0013c0022t0001g0158 a0013c0061t0001g0156	7	246	0.0285	0	c.173 others(6): Show c.1730+6T>C		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	14/57					chr10	TogoVar
CFAP47_chrX_35914734_36390317	35975369	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00558.hp2 HG00621.hp1 others(88): Show HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG01168.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18943.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18992.hp1 NA18994.hp1 NA19002.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19074.hp2 NA19082.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(32): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0024 a0025 a0026 a0027 a0030 a0031 a0032 a0033 a0034 a0037 a0040 a0041 a0048 a0049 a0050	a0001c0029 a0002c0002 a0002c0013 others(48): Show a0001c0029 a0002c0002 a0002c0013 a0003c0014 a0003c0053 a0003c0074 a0005c0005 a0005c0015 a0006c0028 a0006c0048 a0007c0077 a0008c0009 a0009c0012 a0009c0026 a0009c0065 a0010c0007 a0011c0030 a0011c0049 a0011c0054 a0011c0076 a0012c0010 a0012c0027 a0013c0011 a0014c0016 a0014c0070 a0015c0018 a0015c0073 a0016c0031 a0016c0052 a0016c0055 a0017c0020 a0017c0063 a0018c0022 a0019c0023 a0021c0021 a0022c0078 a0024c0025 a0025c0066 a0026c0069 a0027c0064 a0030c0033 a0031c0034 a0032c0035 a0033c0036 a0034c0037 a0037c0057 a0040c0050 a0041c0075 a0048c0072 a0049c0058 a0050c0062	a0001c0029t0001 a0002c0002t0001 a0002c0013t0001 others(48): Show a0001c0029t0001 a0002c0002t0001 a0002c0013t0001 a0003c0014t0001 a0003c0053t0001 a0003c0074t0001 a0005c0005t0001 a0005c0015t0001 a0006c0028t0001 a0006c0048t0001 a0007c0077t0001 a0008c0009t0001 a0009c0012t0001 a0009c0026t0001 a0009c0065t0001 a0010c0007t0001 a0011c0030t0001 a0011c0049t0001 a0011c0054t0001 a0011c0076t0001 a0012c0010t0001 a0012c0027t0001 a0013c0011t0001 a0014c0016t0001 a0014c0070t0001 a0015c0018t0001 a0015c0073t0004 a0016c0031t0002 a0016c0052t0001 a0016c0055t0002 a0017c0020t0001 a0017c0063t0001 a0018c0022t0001 a0019c0023t0001 a0021c0021t0001 a0022c0078t0003 a0024c0025t0005 a0025c0066t0001 a0026c0069t0001 a0027c0064t0001 a0030c0033t0001 a0031c0034t0001 a0032c0035t0001 a0033c0036t0001 a0034c0037t0001 a0037c0057t0001 a0040c0050t0001 a0041c0075t0001 a0048c0072t0001 a0049c0058t0001 a0050c0062t0001	a0001c0029t0001g0083 a0002c0002t0001g0150 a0002c0002t0001g0151 others(88): Show a0001c0029t0001g0083 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0171 a0002c0013t0001g0126 a0002c0013t0001g0127 a0003c0014t0001g0098 a0003c0014t0001g0099 a0003c0053t0001g0056 a0003c0074t0001g0139 a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 a0005c0005t0001g0012 a0005c0005t0001g0013 a0005c0005t0001g0190 a0005c0015t0001g0131 a0005c0015t0001g0199 a0006c0028t0001g0186 a0006c0048t0001g0001 a0007c0077t0001g0140 a0008c0009t0001g0144 a0008c0009t0001g0148 a0008c0009t0001g0159 a0008c0009t0001g0164 a0008c0009t0001g0165 a0009c0012t0001g0143 a0009c0012t0001g0145 a0009c0012t0001g0156 a0009c0026t0001g0128 a0009c0065t0001g0173 a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 a0010c0007t0001g0197 a0010c0007t0001g0198 a0011c0030t0001g0185 a0011c0049t0001g0184 a0011c0054t0001g0201 a0011c0076t0001g0141 a0012c0010t0001g0130 a0012c0010t0001g0132 a0012c0010t0001g0133 a0012c0027t0001g0005 a0013c0011t0001g0167 a0013c0011t0001g0169 a0013c0011t0001g0172 a0014c0016t0001g0193 a0014c0016t0001g0200 a0014c0070t0001g0138 a0015c0018t0001g0007 a0015c0018t0001g0192 a0015c0073t0004g0137 a0016c0031t0002g0202 a0016c0052t0001g0017 a0016c0055t0002g0191 a0017c0020t0001g0211 a0017c0020t0001g0212 a0017c0063t0001g0213 a0018c0022t0001g0002 a0018c0022t0001g0003 a0019c0023t0001g0146 a0019c0023t0001g0174 a0021c0021t0001g0209 a0021c0021t0001g0210 a0022c0078t0003g0134 a0024c0025t0005g0182 a0025c0066t0001g0170 a0026c0069t0001g0147 a0027c0064t0001g0168 a0030c0033t0001g0016 a0031c0034t0001g0107 a0032c0035t0001g0015 a0033c0036t0001g0010 a0034c0037t0001g0014 a0037c0057t0001g0177 a0040c0050t0001g0183 a0041c0075t0001g0135 a0048c0072t0001g0136 a0049c0058t0001g0207 a0050c0062t0001g0216	91	216	0.4213	0	c.247 others(6): Show c.2471+6G>A		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	14/63					chrX	TogoVar
CFAP47_chrX_35914734_36390317	35991813	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02630.hp2	a0026 a0026	a0026c0069 a0026c0069	a0026c0069t0001 a0026c0069t0001	a0026c0069t0001g0147 a0026c0069t0001g0147	1	216	0.0046	0	c.284 others(6): Show c.2845-8G>A		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	16/63					chrX	TogoVar
CFAP47_chrX_35914734_36390317	36138330	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18954.hp1 NA19005.hp1 NA19083.hp1 NA18954.hp1 NA19005.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0048 a0001c0001t0001g0122 a0001c0001t0001g0123	3	216	0.0139	1	c.541 others(7): Show c.5419-5dupT		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	34/63				INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36138330	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp1 HG01346.hp2 HG01884.hp1 others(27): Show HG01261.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG06807.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0005 a0006 a0011 others(12): Show a0005 a0006 a0011 a0012 a0016 a0017 a0019 a0024 a0030 a0031 a0032 a0050 a0051 a0052 a0053	a0005c0005 a0005c0015 a0006c0008 others(15): Show a0005c0005 a0005c0015 a0006c0008 a0006c0048 a0011c0030 a0012c0010 a0012c0027 a0016c0052 a0017c0020 a0019c0023 a0024c0025 a0030c0033 a0031c0034 a0032c0035 a0050c0062 a0051c0059 a0052c0060 a0053c0061	a0005c0005t0001 a0005c0015t0001 a0006c0008t0001 others(15): Show a0005c0005t0001 a0005c0015t0001 a0006c0008t0001 a0006c0048t0001 a0011c0030t0001 a0012c0010t0001 a0012c0027t0001 a0016c0052t0001 a0017c0020t0001 a0019c0023t0001 a0024c0025t0005 a0030c0033t0001 a0031c0034t0001 a0032c0035t0001 a0050c0062t0001 a0051c0059t0001 a0052c0060t0001 a0053c0061t0002	a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 others(27): Show a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 a0005c0005t0001g0012 a0005c0005t0001g0013 a0005c0005t0001g0190 a0005c0015t0001g0131 a0005c0015t0001g0199 a0006c0008t0001g0022 a0006c0008t0001g0023 a0006c0008t0001g0188 a0006c0008t0001g0189 a0006c0048t0001g0001 a0011c0030t0001g0185 a0012c0010t0001g0130 a0012c0010t0001g0132 a0012c0010t0001g0133 a0012c0027t0001g0005 a0016c0052t0001g0017 a0017c0020t0001g0212 a0019c0023t0001g0146 a0019c0023t0001g0174 a0024c0025t0005g0182 a0030c0033t0001g0016 a0031c0034t0001g0107 a0032c0035t0001g0015 a0050c0062t0001g0216 a0051c0059t0001g0215 a0052c0060t0001g0208 a0053c0061t0002g0214	30	216	0.1389	-1	c.541 others(7): Show c.5419-5delT		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	34/63				INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36138330	ATT ATT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02809.hp1 HG03195.hp1 HG02630.hp2 HG02809.hp1 HG03195.hp1	a0026 a0037 a0038 a0026 a0037 a0038	a0026c0069 a0037c0057 a0038c0042 a0026c0069 a0037c0057 a0038c0042	a0026c0069t0001 a0037c0057t0001 a0038c0042t0001 a0026c0069t0001 a0037c0057t0001 a0038c0042t0001	a0026c0069t0001g0147 a0037c0057t0001g0177 a0038c0042t0001g0011 a0026c0069t0001g0147 a0037c0057t0001g0177 a0038c0042t0001g0011	3	216	0.0139	-2	c.541 others(15): Show c.5419-6_5419-5delTT		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	34/63				INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36149227	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	216	0.0046	0	c.578 others(6): Show c.5786+4A>G		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	37/63					chrX	TogoVar
CFAP47_chrX_35914734_36390317	36179421	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0043 a0043	a0043c0043 a0043c0043	a0043c0043t0001 a0043c0043t0001	a0043c0043t0001g0068 a0043c0043t0001g0068	1	216	0.0046	0	c.610 others(4): Show c.6103G>A	p.Asp others(7): Show p.Asp2035Asn	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	40/64	6169/9941	6103/9564	2035/3187		chrX	TogoVar
CFAP47_chrX_35914734_36390317	36310825	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	216	0.0046	0	c.818 others(6): Show c.8188-8T>C		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	55/63					chrX	TogoVar
CFAP47_chrX_35914734_36390317	36361324	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02622.hp1 HG02630.hp2 others(5): Show HG01891.hp2 HG02622.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1	a0010 a0026 a0028 others(2): Show a0010 a0026 a0028 a0032 a0040	a0010c0007 a0026c0069 a0028c0068 others(2): Show a0010c0007 a0026c0069 a0028c0068 a0032c0035 a0040c0050	a0010c0007t0001 a0026c0069t0001 a0028c0068t0001 others(2): Show a0010c0007t0001 a0026c0069t0001 a0028c0068t0001 a0032c0035t0001 a0040c0050t0001	a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 others(5): Show a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 a0010c0007t0001g0198 a0026c0069t0001g0147 a0028c0068t0001g0142 a0032c0035t0001g0015 a0040c0050t0001g0183	8	216	0.0370	-1	c.885 others(7): Show c.8852-4delC		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	60/63				INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9585766	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0163 a0002c0001t0001g0163	1	316	0.0032	0	c.71- others(4): Show c.71-7C>T		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	1/13					chr17	TogoVar
CFAP52_chr17_9571642_9648447	9598215	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(114): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01884.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0005 a0002c0001 others(5): Show a0001c0002 a0001c0005 a0002c0001 a0002c0010 a0002c0011 a0003c0003 a0004c0006 a0005c0008	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0002c0001t0001 a0002c0001t0002 a0002c0010t0001 a0002c0011t0001 a0003c0003t0001 a0004c0006t0001 a0005c0008t0001	a0001c0002t0001g0007 a0001c0002t0001g0021 a0001c0002t0001g0041 others(114): Show a0001c0002t0001g0007 a0001c0002t0001g0021 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0111 a0001c0002t0001g0127 a0001c0002t0001g0153 a0001c0002t0001g0186 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0232 a0001c0002t0001g0242 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0301 a0001c0002t0002g0002 a0001c0005t0001g0074 a0001c0005t0001g0077 a0002c0001t0001g0014 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0035 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0040 a0002c0001t0001g0043 a0002c0001t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0061 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0071 a0002c0001t0001g0079 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0089 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0103 a0002c0001t0001g0110 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0001g0114 a0002c0001t0001g0116 a0002c0001t0001g0128 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0163 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0190 a0002c0001t0001g0200 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0233 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0254 a0002c0001t0001g0264 a0002c0001t0001g0265 a0002c0001t0001g0266 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0272 a0002c0001t0001g0275 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0281 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0001g0290 a0002c0001t0001g0297 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0001g0308 a0002c0001t0002g0247 a0002c0001t0002g0253 a0002c0010t0001g0142 a0002c0011t0001g0277 a0003c0003t0001g0130 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0295 a0004c0006t0001g0131 a0004c0006t0001g0315 a0005c0008t0001g0261	117	316	0.3703	1	c.537 others(6): Show c.537-7dupT		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	4/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9598215	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG02895.hp2 HG02897.hp1 others(4): Show HG02615.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03471.hp2 NA18968.hp2 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0012 a0001c0002 a0001c0004 a0001c0012	a0001c0002t0001 a0001c0004t0004 a0001c0012t0001 a0001c0002t0001 a0001c0004t0004 a0001c0012t0001	a0001c0002t0001g0115 a0001c0002t0001g0309 a0001c0004t0004g0001 others(3): Show a0001c0002t0001g0115 a0001c0002t0001g0309 a0001c0004t0004g0001 a0001c0004t0004g0036 a0001c0004t0004g0199 a0001c0012t0001g0022	7	316	0.0222	-1	c.537 others(6): Show c.537-7delT		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	4/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9598234	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18977.hp1 NA18977.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0261 a0005c0008t0001g0261	1	316	0.0032	0	c.537 others(3): Show c.537T>C	p.Asn others(6): Show p.Asn179Asn	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	5/14	591/2166	537/1863	179/620		chr17	TogoVar
CFAP52_chr17_9571642_9648447	9628669	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG02809.hp2 NA19240.hp2 HG02647.hp2 HG02809.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0002t0001g0026	3	316	0.0095	0	c.102 others(6): Show c.1026-3C>T		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	8/13					chr17	TogoVar
CFAP53_chr18_50222193_50271495	50238649	CATTTATG others(114): Show CATTTATGTGTTTCTGTTCCATAGCACGTTCTTCCTGTTCTTTAGCTTCT CGTTGCACTAAGAAAAGCAAAAGTAATTATATGTCAAATGACTTTCAGAC AAGAATTGCCAACATCTTTCTG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19059.hp2 NA19059.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0112 a0007c0015t0001g0112	1	402	0.0025	-121	c.121 others(12): Show c.1214-65_1269del	p.Leu others(5): Show p.Leu405fs	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/8	1360/1824	1214/1545	405/514		chr18	TogoVar
CFAP54_chr12_96484577_96880555	96580589	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00558.hp2 HG01081.hp2 others(14): Show HG00423.hp2 HG00558.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01496.hp2 HG01928.hp2 HG02735.hp1 HG03704.hp1 HG03942.hp2 NA18949.hp1 NA18966.hp1 NA18968.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19090.hp1	a0009 a0010 a0017 others(4): Show a0009 a0010 a0017 a0022 a0033 a0049 a0062	a0009c0008 a0010c0013 a0017c0066 others(4): Show a0009c0008 a0010c0013 a0017c0066 a0022c0045 a0033c0076 a0049c0044 a0062c0098	a0009c0008t0001 a0010c0013t0001 a0017c0066t0001 others(4): Show a0009c0008t0001 a0010c0013t0001 a0017c0066t0001 a0022c0045t0001 a0033c0076t0001 a0049c0044t0001 a0062c0098t0001	a0009c0008t0001g0197 a0009c0008t0001g0198 a0009c0008t0001g0199 others(14): Show a0009c0008t0001g0197 a0009c0008t0001g0198 a0009c0008t0001g0199 a0009c0008t0001g0200 a0009c0008t0001g0201 a0009c0008t0001g0202 a0009c0008t0001g0206 a0009c0008t0001g0207 a0010c0013t0001g0185 a0010c0013t0001g0187 a0010c0013t0001g0188 a0010c0013t0001g0189 a0017c0066t0001g0186 a0022c0045t0001g0081 a0033c0076t0001g0179 a0049c0044t0001g0030 a0062c0098t0001g0208	17	268	0.0634	0	c.279 others(6): Show c.2797-8G>A		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	20/67					chr12	TogoVar
CFAP54_chr12_96484577_96880555	96580694	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00423.hp1 HG00438.hp1 others(52): Show HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18942.hp1 NA18964.hp1 NA18971.hp1 NA18983.hp1 NA18990.hp1 NA18998.hp2 NA19054.hp1 NA19060.hp1 NA19066.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0011 others(11): Show a0003 a0004 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0032 a0034 a0040 a0061 a0063	a0003c0002 a0003c0016 a0004c0042 others(15): Show a0003c0002 a0003c0016 a0004c0042 a0011c0017 a0011c0069 a0012c0021 a0013c0018 a0014c0014 a0015c0030 a0015c0100 a0017c0031 a0018c0067 a0018c0068 a0032c0070 a0034c0065 a0040c0037 a0061c0096 a0063c0099	a0003c0002t0001 a0003c0002t0004 a0003c0016t0001 others(17): Show a0003c0002t0001 a0003c0002t0004 a0003c0016t0001 a0004c0042t0001 a0011c0017t0001 a0011c0069t0001 a0012c0021t0001 a0013c0018t0001 a0014c0014t0001 a0015c0030t0001 a0015c0030t0003 a0015c0100t0001 a0017c0031t0001 a0018c0067t0001 a0018c0068t0001 a0032c0070t0001 a0034c0065t0001 a0040c0037t0001 a0061c0096t0001 a0063c0099t0003	a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0215 others(52): Show a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0215 a0003c0002t0001g0216 a0003c0002t0001g0219 a0003c0002t0001g0220 a0003c0002t0001g0221 a0003c0002t0001g0224 a0003c0002t0001g0225 a0003c0002t0001g0226 a0003c0002t0001g0227 a0003c0002t0001g0228 a0003c0002t0001g0230 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0236 a0003c0002t0001g0237 a0003c0002t0001g0238 a0003c0002t0001g0239 a0003c0002t0001g0240 a0003c0002t0001g0241 a0003c0002t0001g0242 a0003c0002t0001g0249 a0003c0002t0001g0263 a0003c0002t0001g0264 a0003c0002t0001g0267 a0003c0002t0004g0265 a0003c0016t0001g0246 a0003c0016t0001g0247 a0003c0016t0001g0248 a0004c0042t0001g0094 a0011c0017t0001g0259 a0011c0017t0001g0260 a0011c0017t0001g0262 a0011c0069t0001g0261 a0012c0021t0001g0203 a0012c0021t0001g0204 a0012c0021t0001g0205 a0013c0018t0001g0253 a0013c0018t0001g0254 a0013c0018t0001g0257 a0014c0014t0001g0161 a0014c0014t0001g0162 a0014c0014t0001g0164 a0015c0030t0001g0193 a0015c0030t0003g0192 a0015c0100t0001g0194 a0017c0031t0001g0266 a0018c0067t0001g0235 a0018c0068t0001g0234 a0032c0070t0001g0244 a0034c0065t0001g0212 a0040c0037t0001g0163 a0061c0096t0001g0252 a0063c0099t0003g0195	55	268	0.2052	0	c.288 others(6): Show c.2889+5G>A		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	21/67					chr12	TogoVar
CFAP54_chr12_96484577_96880555	96621590	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp1 HG03209.hp2 HG03225.hp1 HG02630.hp1 HG03209.hp2 HG03225.hp1	a0019 a0039 a0019 a0039	a0019c0023 a0039c0039 a0019c0023 a0039c0039	a0019c0023t0001 a0039c0039t0001 a0019c0023t0001 a0039c0039t0001	a0019c0023t0001g0038 a0019c0023t0001g0039 a0039c0039t0001g0040 a0019c0023t0001g0038 a0019c0023t0001g0039 a0039c0039t0001g0040	3	268	0.0112	0	c.364 others(4): Show c.3640A>T	p.Ile others(7): Show p.Ile1214Phe	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	27/68	3673/9776	3640/9291	1214/3096		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96688908	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01928.hp2 HG02280.hp2 others(7): Show HG01106.hp2 HG01928.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03540.hp1 NA21309.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0028 a0049	a0001c0001 a0003c0073 a0007c0019 others(5): Show a0001c0001 a0003c0073 a0007c0019 a0007c0028 a0007c0071 a0007c0077 a0028c0079 a0049c0044	a0001c0001t0001 a0003c0073t0001 a0007c0019t0001 others(5): Show a0001c0001t0001 a0003c0073t0001 a0007c0019t0001 a0007c0028t0001 a0007c0071t0001 a0007c0077t0001 a0028c0079t0001 a0049c0044t0001	a0001c0001t0001g0080 a0001c0001t0001g0082 a0003c0073t0001g0214 others(7): Show a0001c0001t0001g0080 a0001c0001t0001g0082 a0003c0073t0001g0214 a0007c0019t0001g0229 a0007c0028t0001g0181 a0007c0028t0001g0182 a0007c0071t0001g0180 a0007c0077t0001g0183 a0028c0079t0001g0184 a0049c0044t0001g0030	10	268	0.0373	0	c.601 others(6): Show c.6015-8T>A		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	42/67					chr12	TogoVar
CFAP54_chr12_96484577_96880555	96718525	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0152 a0002c0007t0001g0152	1	268	0.0037	0	c.680 others(6): Show c.6804+3A>T		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	49/67					chr12	TogoVar
CFAP54_chr12_96484577_96880555	96742440	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(119): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18954.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(25): Show a0002 a0003 a0004 a0012 a0015 a0018 a0020 a0023 a0025 a0026 a0027 a0032 a0034 a0036 a0038 a0039 a0040 a0041 a0042 a0044 a0046 a0048 a0054 a0057 a0058 a0060 a0061 a0063	a0002c0003 a0002c0007 a0002c0032 others(42): Show a0002c0003 a0002c0007 a0002c0032 a0002c0058 a0002c0091 a0003c0002 a0003c0016 a0003c0033 a0003c0072 a0003c0073 a0004c0005 a0004c0011 a0004c0042 a0004c0081 a0004c0082 a0004c0085 a0004c0088 a0012c0021 a0012c0097 a0015c0030 a0015c0100 a0018c0067 a0018c0068 a0020c0024 a0023c0026 a0025c0029 a0026c0025 a0027c0095 a0032c0070 a0034c0065 a0036c0036 a0038c0093 a0039c0039 a0040c0037 a0041c0038 a0042c0092 a0044c0040 a0046c0053 a0048c0061 a0054c0034 a0057c0090 a0058c0084 a0060c0094 a0061c0096 a0063c0099	a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 others(45): Show a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0002c0032t0001 a0002c0058t0001 a0002c0091t0001 a0003c0002t0001 a0003c0002t0004 a0003c0016t0001 a0003c0033t0001 a0003c0072t0001 a0003c0073t0001 a0004c0005t0001 a0004c0011t0001 a0004c0042t0001 a0004c0081t0001 a0004c0082t0001 a0004c0085t0001 a0004c0088t0001 a0012c0021t0001 a0012c0097t0001 a0015c0030t0001 a0015c0030t0003 a0015c0100t0001 a0018c0067t0001 a0018c0068t0001 a0020c0024t0001 a0023c0026t0001 a0025c0029t0001 a0026c0025t0001 a0027c0095t0001 a0032c0070t0001 a0034c0065t0001 a0036c0036t0001 a0038c0093t0001 a0039c0039t0001 a0040c0037t0001 a0041c0038t0001 a0042c0092t0001 a0044c0040t0001 a0046c0053t0001 a0048c0061t0001 a0054c0034t0001 a0057c0090t0001 a0058c0084t0001 a0060c0094t0001 a0061c0096t0001 a0063c0099t0003	a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0127 others(119): Show a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0127 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0139 a0002c0003t0001g0143 a0002c0003t0001g0151 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0177 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0007t0001g0124 a0002c0007t0001g0125 a0002c0007t0001g0134 a0002c0007t0001g0135 a0002c0007t0001g0136 a0002c0007t0001g0137 a0002c0007t0001g0149 a0002c0007t0001g0152 a0002c0007t0001g0154 a0002c0032t0001g0222 a0002c0058t0001g0077 a0002c0091t0001g0138 a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0215 a0003c0002t0001g0216 a0003c0002t0001g0219 a0003c0002t0001g0220 a0003c0002t0001g0221 a0003c0002t0001g0224 a0003c0002t0001g0225 a0003c0002t0001g0226 a0003c0002t0001g0227 a0003c0002t0001g0228 a0003c0002t0001g0230 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0236 a0003c0002t0001g0237 a0003c0002t0001g0238 a0003c0002t0001g0239 a0003c0002t0001g0240 a0003c0002t0001g0241 a0003c0002t0001g0242 a0003c0002t0001g0249 a0003c0002t0001g0263 a0003c0002t0001g0264 a0003c0002t0001g0267 a0003c0002t0004g0265 a0003c0016t0001g0246 a0003c0016t0001g0247 a0003c0016t0001g0248 a0003c0033t0001g0218 a0003c0072t0001g0245 a0003c0073t0001g0214 a0004c0005t0001g0007 a0004c0005t0001g0036 a0004c0005t0001g0037 a0004c0005t0001g0052 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0103 a0004c0005t0001g0231 a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 a0004c0011t0001g0120 a0004c0042t0001g0094 a0004c0081t0001g0128 a0004c0082t0001g0167 a0004c0085t0001g0145 a0004c0088t0001g0140 a0012c0021t0001g0203 a0012c0021t0001g0204 a0012c0021t0001g0205 a0012c0097t0001g0196 a0015c0030t0001g0193 a0015c0030t0003g0192 a0015c0100t0001g0194 a0018c0067t0001g0235 a0018c0068t0001g0234 a0020c0024t0001g0009 a0020c0024t0001g0109 a0023c0026t0001g0031 a0023c0026t0001g0047 a0025c0029t0001g0001 a0025c0029t0001g0176 a0026c0025t0001g0002 a0026c0025t0001g0003 a0027c0095t0001g0126 a0032c0070t0001g0244 a0034c0065t0001g0212 a0036c0036t0001g0041 a0038c0093t0001g0158 a0039c0039t0001g0040 a0040c0037t0001g0163 a0041c0038t0001g0191 a0042c0092t0001g0160 a0044c0040t0001g0107 a0046c0053t0001g0022 a0048c0061t0001g0017 a0054c0034t0001g0006 a0057c0090t0001g0123 a0058c0084t0001g0129 a0060c0094t0001g0147 a0061c0096t0001g0252 a0063c0099t0003g0195	122	268	0.4552	0	c.707 others(4): Show c.7073T>C	p.Val others(7): Show p.Val2358Ala	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	52/68	7106/9776	7073/9291	2358/3096		chr12	TogoVar
CFAP57_chr1_43167330_43259358	43172461	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18956.hp1 NA18956.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0008 a0003c0002t0001g0008	1	308	0.0033	0	c.-20 others(5): Show c.-20+8G>C		CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	1/22					chr1	TogoVar

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