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
CEP104_chr1_3807086_3862211	3831039	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0007 a0008 a0010 a0011 a0012 a0014 a0016 a0017 a0018	a0001c0001 a0001c0006 a0002c0002 others(13): Show a0001c0001 a0001c0006 a0002c0002 a0002c0005 a0002c0012 a0004c0007 a0005c0008 a0007c0011 a0008c0013 a0010c0020 a0011c0018 a0012c0019 a0014c0017 a0016c0022 a0017c0023 a0018c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(37): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0006t0006 a0001c0006t0021 a0002c0002t0001 a0002c0002t0011 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0005t0001 a0002c0012t0001 a0004c0007t0009 a0005c0008t0015 a0007c0011t0001 a0008c0013t0001 a0010c0020t0003 a0011c0018t0003 a0012c0019t0032 a0014c0017t0010 a0016c0022t0034 a0017c0023t0004 a0018c0010t0006	a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0026 others(230): Show a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0237 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0004g0002 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0005g0029 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0007g0014 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0275 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0008g0013 a0001c0001t0008g0024 a0001c0001t0008g0248 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0270 a0001c0001t0009g0239 a0001c0001t0009g0240 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0259 a0001c0001t0009g0268 a0001c0001t0010g0235 a0001c0001t0010g0244 a0001c0001t0010g0246 a0001c0001t0010g0247 a0001c0001t0010g0249 a0001c0001t0010g0260 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0020g0286 a0001c0001t0020g0287 a0001c0001t0026g0154 a0001c0001t0027g0145 a0001c0001t0028g0161 a0001c0001t0033g0274 a0001c0001t0035g0266 a0001c0001t0036g0305 a0001c0001t0037g0312 a0001c0001t0038g0288 a0001c0001t0039g0238 a0001c0001t0040g0315 a0001c0006t0006g0124 a0001c0006t0006g0126 a0001c0006t0006g0127 a0001c0006t0006g0128 a0001c0006t0006g0129 a0001c0006t0006g0130 a0001c0006t0006g0131 a0001c0006t0006g0132 a0001c0006t0006g0133 a0001c0006t0021g0117 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0011g0134 a0002c0002t0011g0135 a0002c0002t0011g0136 a0002c0002t0022g0084 a0002c0002t0023g0091 a0002c0002t0024g0115 a0002c0002t0025g0076 a0002c0005t0001g0005 a0002c0005t0001g0018 a0002c0005t0001g0033 a0002c0005t0001g0034 a0002c0005t0001g0038 a0002c0005t0001g0040 a0002c0005t0001g0045 a0002c0005t0001g0069 a0002c0005t0001g0070 a0002c0005t0001g0107 a0002c0005t0001g0111 a0002c0012t0001g0043 a0004c0007t0009g0241 a0004c0007t0009g0245 a0004c0007t0009g0250 a0005c0008t0015g0139 a0005c0008t0015g0140 a0007c0011t0001g0049 a0008c0013t0001g0055 a0010c0020t0003g0313 a0011c0018t0003g0265 a0012c0019t0032g0234 a0014c0017t0010g0236 a0016c0022t0034g0269 a0017c0023t0004g0150 a0018c0010t0006g0125	280	382	0.7330	0	c.183 others(6): Show c.1836+7A>G		CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	13/21					chr1	TogoVar
CEP104_chr1_3807086_3862211	3834925	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03654.hp2 HG03654.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0055 a0008c0013t0001g0055	1	382	0.0026	0	c.148 others(4): Show c.1485C>T	p.Ser others(6): Show p.Ser495Ser	CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	11/22	1822/6431	1485/2778	495/925		chr1	TogoVar
CEP104_chr1_3807086_3862211	3844901	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(36): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01884.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 NA18522.hp1 NA19240.hp2 NA20129.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0018 a0001c0001 a0011c0018	a0001c0001t0003 a0001c0001t0035 a0001c0001t0036 others(1): Show a0001c0001t0003 a0001c0001t0035 a0001c0001t0036 a0011c0018t0003	a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0026 others(28): Show a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0237 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0035g0266 a0001c0001t0036g0305 a0011c0018t0003g0265	39	382	0.1021	0	c.566 others(5): Show c.566+6A>T		CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	6/21					chr1	TogoVar
CEP104_chr1_3807086_3862211	3844983	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0004 a0017c0023t0004	a0017c0023t0004g0150 a0017c0023t0004g0150	1	382	0.0026	0	c.490 others(3): Show c.490G>T	p.Ala others(6): Show p.Ala164Ser	CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	6/22	827/6431	490/2778	164/925		chr1	TogoVar
CEP112_chr17_65630537_66197133	66053728	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	112	0.0089	0	c.121 others(6): Show c.1218+8T>A		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26					chr17	TogoVar
CEP120_chr5_123339892_123428403	123372780	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0135 a0003c0003t0001g0135	1	376	0.0027	0	c.235 others(6): Show c.2359-8T>A		CEP120	ENSG00000168944.17	transcript	ENST00000306467.10	protein_coding	16/19					chr5	TogoVar
CEP120_chr5_123339892_123428403	123386673	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00438.hp1 HG00597.hp1 others(58): Show HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03710.hp2 HG06807.hp1 NA18950.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19057.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0010	a0001c0006 a0001c0016 a0002c0002 others(5): Show a0001c0006 a0001c0016 a0002c0002 a0002c0009 a0003c0003 a0003c0018 a0006c0010 a0010c0019	a0001c0006t0001 a0001c0006t0002 a0001c0006t0008 others(11): Show a0001c0006t0001 a0001c0006t0002 a0001c0006t0008 a0001c0006t0009 a0001c0006t0013 a0001c0016t0002 a0002c0002t0001 a0002c0002t0014 a0002c0009t0001 a0002c0009t0010 a0003c0003t0001 a0003c0018t0001 a0006c0010t0015 a0010c0019t0003	a0001c0006t0001g0103 a0001c0006t0002g0006 a0001c0006t0002g0207 others(50): Show a0001c0006t0001g0103 a0001c0006t0002g0006 a0001c0006t0002g0207 a0001c0006t0008g0010 a0001c0006t0009g0030 a0001c0006t0013g0208 a0001c0016t0002g0210 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0032 a0002c0002t0001g0102 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0138 a0002c0002t0001g0144 a0002c0002t0001g0158 a0002c0002t0001g0200 a0002c0002t0014g0124 a0002c0009t0001g0125 a0002c0009t0010g0031 a0003c0003t0001g0101 a0003c0003t0001g0115 a0003c0003t0001g0139 a0003c0003t0001g0142 a0003c0003t0001g0176 a0003c0003t0001g0184 a0003c0003t0001g0195 a0003c0003t0001g0298 a0003c0003t0001g0311 a0003c0003t0001g0319 a0003c0018t0001g0304 a0006c0010t0015g0033 a0010c0019t0003g0108	61	376	0.1622	-1	c.143 others(7): Show c.1431-7delA		CEP120	ENSG00000168944.17	transcript	ENST00000306467.10	protein_coding	9/19					chr5	TogoVar
CEP120_chr5_123339892_123428403	123386674	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02970.hp1 HG03041.hp1 others(3): Show HG02257.hp1 HG02970.hp1 HG03041.hp1 HG03540.hp2 NA18522.hp2 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0006 a0001c0011 a0007c0017 a0001c0006 a0001c0011 a0007c0017	a0001c0006t0002 a0001c0011t0002 a0007c0017t0002 a0001c0006t0002 a0001c0011t0002 a0007c0017t0002	a0001c0006t0002g0204 a0001c0006t0002g0205 a0001c0006t0002g0206 others(3): Show a0001c0006t0002g0204 a0001c0006t0002g0205 a0001c0006t0002g0206 a0001c0006t0002g0324 a0001c0011t0002g0203 a0007c0017t0002g0209	6	376	0.0160	0	c.143 others(6): Show c.1431-7A>T		CEP120	ENSG00000168944.17	transcript	ENST00000306467.10	protein_coding	9/19					chr5	TogoVar
CEP120_chr5_123339892_123428403	123386675	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01071.hp1 HG01243.hp1 others(3): Show HG01069.hp1 HG01071.hp1 HG01243.hp1 HG02451.hp1 HG03195.hp2 HG06807.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0006c0010 a0001c0006 a0006c0010	a0001c0006t0002 a0001c0006t0013 a0006c0010t0015 a0001c0006t0002 a0001c0006t0013 a0006c0010t0015	a0001c0006t0002g0006 a0001c0006t0002g0207 a0001c0006t0013g0208 others(1): Show a0001c0006t0002g0006 a0001c0006t0002g0207 a0001c0006t0013g0208 a0006c0010t0015g0033	6	376	0.0160	0	c.143 others(6): Show c.1431-8A>T		CEP120	ENSG00000168944.17	transcript	ENST00000306467.10	protein_coding	9/19					chr5	TogoVar
CEP126_chr11_101910010_102006062	101944258	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0055 a0001c0009t0055	a0001c0009t0055g0304 a0001c0009t0055g0304	1	336	0.0030	0	c.249 others(5): Show c.249-7A>C		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					chr11	TogoVar
CEP128_chr14_80491479_80946738	80526986	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG00733.hp1 HG00733.hp2 others(102): Show HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19060.hp1 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0013	a0001c0001 a0001c0012 a0001c0014 others(13): Show a0001c0001 a0001c0012 a0001c0014 a0001c0015 a0001c0019 a0002c0002 a0002c0006 a0003c0003 a0004c0004 a0004c0013 a0005c0005 a0006c0007 a0007c0010 a0008c0011 a0010c0017 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0012t0001 a0001c0014t0003 a0001c0015t0001 a0001c0019t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0006t0003 a0003c0003t0002 a0004c0004t0003 a0004c0004t0008 a0004c0004t0012 a0004c0004t0013 a0004c0004t0014 a0004c0013t0007 a0005c0005t0001 a0005c0005t0008 a0005c0005t0009 a0006c0007t0002 a0006c0007t0004 a0007c0010t0001 a0008c0011t0002 a0010c0017t0001 a0013c0021t0007	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(102): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0003g0149 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0012t0001g0049 a0001c0014t0003g0151 a0001c0015t0001g0048 a0001c0019t0002g0123 a0002c0002t0003g0062 a0002c0002t0003g0066 a0002c0002t0003g0068 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0141 a0002c0002t0003g0143 a0002c0002t0004g0083 a0002c0002t0015g0075 a0002c0006t0003g0096 a0002c0006t0003g0097 a0002c0006t0003g0144 a0002c0006t0003g0145 a0003c0003t0002g0098 a0003c0003t0002g0120 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0002g0164 a0004c0004t0003g0063 a0004c0004t0003g0086 a0004c0004t0003g0140 a0004c0004t0008g0071 a0004c0004t0012g0103 a0004c0004t0013g0087 a0004c0004t0014g0069 a0004c0013t0007g0095 a0005c0005t0001g0008 a0005c0005t0001g0028 a0005c0005t0001g0055 a0005c0005t0008g0150 a0005c0005t0009g0050 a0006c0007t0002g0135 a0006c0007t0004g0147 a0007c0010t0001g0057 a0008c0011t0002g0109 a0008c0011t0002g0121 a0010c0017t0001g0007 a0013c0021t0007g0088	105	164	0.6402	1	c.295 others(7): Show c.2959-5dupT		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	22/24					chr14	TogoVar
CEP128_chr14_80491479_80946738	80526987	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	164	0.0061	0	c.295 others(6): Show c.2959-5T>C		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	22/24					chr14	TogoVar
CEP128_chr14_80491479_80946738	80793109	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0004 a0012c0020t0004	a0012c0020t0004g0163 a0012c0020t0004g0163	1	164	0.0061	0	c.121 others(4): Show c.1211A>C	p.Asn others(6): Show p.Asn404Thr	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	14/25	1540/4614	1211/3285	404/1094		chr14	TogoVar
CEP128_chr14_80491479_80946738	80941577	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00642.hp2 HG00733.hp1 others(100): Show HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18995.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp1 NA19060.hp2 NA19072.hp2 NA19079.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0013	a0001c0001 a0001c0009 a0001c0014 others(13): Show a0001c0001 a0001c0009 a0001c0014 a0001c0019 a0002c0002 a0002c0006 a0003c0003 a0004c0004 a0004c0013 a0005c0005 a0006c0007 a0008c0011 a0009c0016 a0011c0018 a0012c0020 a0013c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0009t0006 a0001c0014t0003 a0001c0019t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0015 a0002c0006t0003 a0003c0003t0002 a0003c0003t0006 a0004c0004t0003 a0004c0004t0008 a0004c0004t0012 a0004c0004t0013 a0004c0004t0014 a0004c0013t0007 a0005c0005t0008 a0006c0007t0002 a0006c0007t0004 a0008c0011t0002 a0009c0016t0006 a0011c0018t0004 a0012c0020t0004 a0013c0021t0007	a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 others(100): Show a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0003g0149 a0001c0001t0004g0094 a0001c0001t0004g0137 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0114 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0006g0155 a0001c0009t0006g0153 a0001c0009t0006g0154 a0001c0014t0003g0151 a0001c0019t0002g0123 a0002c0002t0003g0062 a0002c0002t0003g0066 a0002c0002t0003g0068 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0136 a0002c0002t0003g0141 a0002c0002t0003g0143 a0002c0002t0004g0065 a0002c0002t0004g0067 a0002c0002t0004g0070 a0002c0002t0004g0072 a0002c0002t0004g0073 a0002c0002t0004g0074 a0002c0002t0004g0080 a0002c0002t0004g0082 a0002c0002t0004g0083 a0002c0002t0004g0093 a0002c0002t0004g0138 a0002c0002t0004g0139 a0002c0002t0004g0142 a0002c0002t0004g0146 a0002c0002t0004g0152 a0002c0002t0006g0158 a0002c0002t0015g0075 a0002c0006t0003g0096 a0002c0006t0003g0097 a0002c0006t0003g0144 a0002c0006t0003g0145 a0003c0003t0002g0098 a0003c0003t0002g0120 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0002g0164 a0003c0003t0006g0116 a0003c0003t0006g0117 a0004c0004t0003g0063 a0004c0004t0003g0086 a0004c0004t0003g0140 a0004c0004t0008g0071 a0004c0004t0012g0103 a0004c0004t0013g0087 a0004c0004t0014g0069 a0004c0013t0007g0095 a0005c0005t0008g0150 a0006c0007t0002g0135 a0006c0007t0004g0147 a0006c0007t0004g0148 a0008c0011t0002g0109 a0008c0011t0002g0121 a0009c0016t0006g0105 a0011c0018t0004g0064 a0012c0020t0004g0163 a0013c0021t0007g0088	103	164	0.6281	0	c.-17 others(6): Show c.-172+4C>T		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	1/24					chr14	TogoVar
CEP131_chr17_81184596_81227965	81189849	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(74): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00735.hp1 HG01071.hp2 HG01106.hp1 HG01168.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01934.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02602.hp2 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18943.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19055.hp1 NA19057.hp2 NA19070.hp2 NA19077.hp2 NA19082.hp1 NA19089.hp1 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0007 a0009 a0010 a0015 a0019 a0020 a0034 a0036 a0039 a0043	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0019 a0001c0062 a0002c0002 a0002c0047 a0002c0061 a0004c0044 a0007c0010 a0009c0011 a0010c0013 a0015c0038 a0019c0025 a0020c0056 a0034c0063 a0036c0060 a0039c0046 a0043c0068	a0001c0001t0001 a0001c0003t0002 a0001c0003t0005 others(22): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0004t0001 a0001c0004t0002 a0001c0019t0001 a0001c0062t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0047t0002 a0002c0061t0001 a0004c0044t0011 a0007c0010t0001 a0009c0011t0001 a0010c0013t0004 a0015c0038t0001 a0019c0025t0002 a0019c0025t0008 a0020c0056t0001 a0034c0063t0001 a0036c0060t0001 a0039c0046t0002 a0043c0068t0004	a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 others(65): Show a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0003t0002g0076 a0001c0003t0002g0078 a0001c0003t0005g0124 a0001c0003t0010g0092 a0001c0004t0001g0150 a0001c0004t0001g0271 a0001c0004t0001g0304 a0001c0004t0002g0010 a0001c0004t0002g0030 a0001c0019t0001g0170 a0001c0062t0001g0227 a0002c0002t0001g0270 a0002c0002t0002g0001 a0002c0002t0002g0011 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0060 a0002c0002t0002g0067 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0120 a0002c0002t0012g0306 a0002c0047t0002g0034 a0002c0061t0001g0175 a0004c0044t0011g0299 a0007c0010t0001g0269 a0007c0010t0001g0275 a0007c0010t0001g0288 a0007c0010t0001g0289 a0009c0011t0001g0171 a0009c0011t0001g0226 a0009c0011t0001g0237 a0010c0013t0004g0335 a0010c0013t0004g0336 a0010c0013t0004g0337 a0010c0013t0004g0338 a0010c0013t0004g0339 a0015c0038t0001g0245 a0019c0025t0002g0071 a0019c0025t0008g0070 a0020c0056t0001g0149 a0034c0063t0001g0184 a0036c0060t0001g0172 a0039c0046t0002g0038 a0043c0068t0004g0334	77	384	0.2005	0	c.316 others(6): Show c.3169-6C>T		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	25/25					chr17	TogoVar
CEP131_chr17_81184596_81227965	81190907	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01358.hp2 HG02080.hp1 HG02129.hp2 others(23): Show HG01358.hp2 HG02080.hp1 HG02129.hp2 HG03834.hp1 NA18940.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18955.hp1 NA18960.hp2 NA18967.hp1 NA18977.hp1 NA18991.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19056.hp2 NA19081.hp1 NA19084.hp1 NA19089.hp2 NA19091.hp2	a0005 a0007 a0012 others(3): Show a0005 a0007 a0012 a0014 a0020 a0028	a0005c0006 a0007c0010 a0007c0064 others(5): Show a0005c0006 a0007c0010 a0007c0064 a0012c0016 a0014c0024 a0020c0056 a0020c0066 a0028c0036	a0005c0006t0001 a0007c0010t0001 a0007c0010t0002 others(6): Show a0005c0006t0001 a0007c0010t0001 a0007c0010t0002 a0007c0064t0001 a0012c0016t0001 a0014c0024t0001 a0020c0056t0001 a0020c0066t0001 a0028c0036t0001	a0005c0006t0001g0005 a0005c0006t0001g0022 a0005c0006t0001g0250 others(19): Show a0005c0006t0001g0005 a0005c0006t0001g0022 a0005c0006t0001g0250 a0005c0006t0001g0257 a0005c0006t0001g0258 a0005c0006t0001g0260 a0007c0010t0001g0269 a0007c0010t0001g0275 a0007c0010t0001g0288 a0007c0010t0001g0289 a0007c0010t0002g0098 a0007c0010t0002g0107 a0007c0064t0001g0208 a0012c0016t0001g0253 a0012c0016t0001g0255 a0012c0016t0001g0256 a0012c0016t0001g0302 a0014c0024t0001g0249 a0014c0024t0001g0254 a0020c0056t0001g0149 a0020c0066t0001g0215 a0028c0036t0001g0252	26	384	0.0677	0	c.294 others(4): Show c.2943G>A	p.Ala others(6): Show p.Ala981Ala	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	23/26	3157/3630	2943/3243	981/1080		chr17	TogoVar
CEP131_chr17_81184596_81227965	81191339	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	384	0.0026	0	c.262 others(6): Show c.2623-4C>G		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	21/25					chr17	TogoVar
CEP131_chr17_81184596_81227965	81192848	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02615.hp1 HG02615.hp2 others(5): Show HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG03453.hp2 HG03471.hp1 NA18906.hp1 NA20300.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0022 a0045	a0001c0051 a0003c0014 a0007c0052 others(2): Show a0001c0051 a0003c0014 a0007c0052 a0022c0030 a0045c0070	a0001c0051t0002 a0003c0014t0003 a0007c0052t0002 others(2): Show a0001c0051t0002 a0003c0014t0003 a0007c0052t0002 a0022c0030t0003 a0045c0070t0001	a0001c0051t0002g0054 a0003c0014t0003g0316 a0003c0014t0003g0324 others(5): Show a0001c0051t0002g0054 a0003c0014t0003g0316 a0003c0014t0003g0324 a0003c0014t0003g0326 a0003c0014t0003g0327 a0007c0052t0002g0053 a0022c0030t0003g0315 a0045c0070t0001g0128	8	384	0.0208	0	c.232 others(6): Show c.2322-5C>T		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	18/25					chr17	TogoVar
CEP131_chr17_81184596_81227965	81196824	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03041.hp1 HG03041.hp1	a0015 a0015	a0015c0040 a0015c0040	a0015c0040t0001 a0015c0040t0001	a0015c0040t0001g0246 a0015c0040t0001g0246	1	384	0.0026	0	c.177 others(4): Show c.1776G>A	p.Ala others(6): Show p.Ala592Ala	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	15/26	1990/3630	1776/3243	592/1080		chr17	TogoVar
CEP131_chr17_81184596_81227965	81196924	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG03139.hp2 HG01255.hp2 HG03139.hp2	a0024 a0025 a0024 a0025	a0024c0033 a0025c0035 a0024c0033 a0025c0035	a0024c0033t0003 a0025c0035t0003 a0024c0033t0003 a0025c0035t0003	a0024c0033t0003g0313 a0025c0035t0003g0314 a0024c0033t0003g0313 a0025c0035t0003g0314	2	384	0.0052	0	c.177 others(6): Show c.1773+6G>A		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	14/25					chr17	TogoVar
CEP131_chr17_81184596_81227965	81200326	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp2 NA18977.hp2	a0039 a0039	a0039c0046 a0039c0046	a0039c0046t0002 a0039c0046t0002	a0039c0046t0002g0038 a0039c0046t0002g0038	1	384	0.0026	0	c.906 others(5): Show c.906+3C>A		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	8/25					chr17	TogoVar
CEP131_chr17_81184596_81227965	81202232	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG01891.hp2 HG02572.hp1 others(8): Show HG01255.hp2 HG01891.hp2 HG02572.hp1 HG02630.hp1 HG02735.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp2 HG04115.hp1 NA21309.hp2	a0010 a0025 a0026 others(4): Show a0010 a0025 a0026 a0031 a0043 a0044 a0048	a0010c0013 a0025c0035 a0026c0034 others(4): Show a0010c0013 a0025c0035 a0026c0034 a0031c0043 a0043c0068 a0044c0067 a0048c0072	a0010c0013t0004 a0025c0035t0003 a0026c0034t0003 others(4): Show a0010c0013t0004 a0025c0035t0003 a0026c0034t0003 a0031c0043t0001 a0043c0068t0004 a0044c0067t0001 a0048c0072t0001	a0010c0013t0004g0335 a0010c0013t0004g0336 a0010c0013t0004g0337 others(8): Show a0010c0013t0004g0335 a0010c0013t0004g0336 a0010c0013t0004g0337 a0010c0013t0004g0338 a0010c0013t0004g0339 a0025c0035t0003g0314 a0026c0034t0003g0307 a0031c0043t0001g0248 a0043c0068t0004g0334 a0044c0067t0001g0127 a0048c0072t0001g0305	11	384	0.0287	0	c.788 others(5): Show c.788+8A>C		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	7/25					chr17	TogoVar
CEP131_chr17_81184596_81227965	81202233	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0006 a0011c0015t0006	a0011c0015t0006g0322 a0011c0015t0006g0322	1	384	0.0026	0	c.788 others(5): Show c.788+7G>A		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	7/25					chr17	TogoVar
CEP131_chr17_81184596_81227965	81206739	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02615.hp1 HG02615.hp2 others(3): Show HG02280.hp2 HG02615.hp1 HG02615.hp2 HG03139.hp2 HG03471.hp1 NA20300.hp2	a0003 a0022 a0024 others(1): Show a0003 a0022 a0024 a0045	a0003c0014 a0022c0030 a0024c0033 others(1): Show a0003c0014 a0022c0030 a0024c0033 a0045c0070	a0003c0014t0003 a0022c0030t0003 a0024c0033t0003 others(1): Show a0003c0014t0003 a0022c0030t0003 a0024c0033t0003 a0045c0070t0001	a0003c0014t0003g0316 a0003c0014t0003g0324 a0003c0014t0003g0326 others(3): Show a0003c0014t0003g0316 a0003c0014t0003g0324 a0003c0014t0003g0326 a0022c0030t0003g0315 a0024c0033t0003g0313 a0045c0070t0001g0128	6	384	0.0156	0	c.515 others(5): Show c.515+5G>A		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	5/25					chr17	TogoVar
CEP131_chr17_81184596_81227965	81209026	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02258.hp2 HG02559.hp2 others(12): Show HG01891.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02970.hp1 HG03139.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp2 HG04115.hp1 NA21309.hp2	a0010 a0017 a0026 others(6): Show a0010 a0017 a0026 a0031 a0042 a0043 a0044 a0047 a0048	a0010c0013 a0017c0022 a0026c0034 others(6): Show a0010c0013 a0017c0022 a0026c0034 a0031c0043 a0042c0029 a0043c0068 a0044c0067 a0047c0073 a0048c0072	a0010c0013t0004 a0017c0022t0001 a0026c0034t0003 others(6): Show a0010c0013t0004 a0017c0022t0001 a0026c0034t0003 a0031c0043t0001 a0042c0029t0001 a0043c0068t0004 a0044c0067t0001 a0047c0073t0001 a0048c0072t0001	a0010c0013t0004g0335 a0010c0013t0004g0336 a0010c0013t0004g0337 others(12): Show a0010c0013t0004g0335 a0010c0013t0004g0336 a0010c0013t0004g0337 a0010c0013t0004g0338 a0010c0013t0004g0339 a0017c0022t0001g0130 a0017c0022t0001g0131 a0017c0022t0001g0132 a0026c0034t0003g0307 a0031c0043t0001g0248 a0042c0029t0001g0303 a0043c0068t0004g0334 a0044c0067t0001g0127 a0047c0073t0001g0133 a0048c0072t0001g0305	15	384	0.0391	0	c.178 others(5): Show c.178-4G>A		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25					chr17	TogoVar
CEP131_chr17_81184596_81227965	81209027	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	384	0.0026	0	c.178 others(5): Show c.178-5T>G		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25					chr17	TogoVar
CEP152_chr15_48732938_48816069	48752341	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(133): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0006 others(11): Show a0001 a0002 a0006 a0007 a0009 a0010 a0013 a0017 a0018 a0019 a0022 a0023 a0026 a0028	a0001c0001 a0001c0009 a0001c0024 others(14): Show a0001c0001 a0001c0009 a0001c0024 a0002c0002 a0006c0012 a0006c0017 a0007c0006 a0009c0010 a0010c0011 a0013c0035 a0017c0028 a0018c0025 a0019c0022 a0022c0020 a0023c0019 a0026c0032 a0028c0033	a0001c0001t0001 a0001c0001t0002 a0001c0009t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0005 a0001c0024t0001 a0002c0002t0002 a0006c0012t0001 a0006c0017t0001 a0007c0006t0001 a0009c0010t0001 a0010c0011t0001 a0013c0035t0001 a0017c0028t0002 a0018c0025t0001 a0019c0022t0001 a0022c0020t0001 a0023c0019t0001 a0026c0032t0001 a0028c0033t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0009t0005g0022 a0001c0009t0005g0023 a0001c0024t0001g0138 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0271 a0002c0002t0002g0282 a0006c0012t0001g0057 a0006c0012t0001g0077 a0006c0017t0001g0025 a0007c0006t0001g0018 a0007c0006t0001g0019 a0007c0006t0001g0026 a0009c0010t0001g0061 a0009c0010t0001g0073 a0010c0011t0001g0096 a0010c0011t0001g0097 a0013c0035t0001g0071 a0017c0028t0002g0287 a0018c0025t0001g0231 a0019c0022t0001g0046 a0022c0020t0001g0069 a0023c0019t0001g0111 a0026c0032t0001g0149 a0028c0033t0001g0113	136	342	0.3977	0	c.346 others(6): Show c.3466+8G>C		CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	21/26					chr15	TogoVar
CEP152_chr15_48732938_48816069	48768336	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 NA20129.hp2 HG02615.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0244 a0001c0001t0002g0245	2	342	0.0059	0	c.190 others(6): Show c.1909-8G>C		CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	14/26					chr15	TogoVar
CEP152_chr15_48732938_48816069	48772697	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18948.hp1 NA18961.hp2 NA18984.hp1 NA18948.hp1 NA18961.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0065	3	342	0.0088	0	c.157 others(6): Show c.1578-6C>G		CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	12/26					chr15	TogoVar
CEP152_chr15_48732938_48816069	48781190	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show HG01496.hp1 HG02257.hp1 HG02280.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0042	4	342	0.0117	0	c.157 others(6): Show c.1577+6G>A		CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	12/26					chr15	TogoVar
CEP152_chr15_48732938_48816069	48791380	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(95): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01255.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG04204.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA19001.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19077.hp2 NA19084.hp1 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0005 a0006 a0007 a0009 a0012 a0013 a0019 a0022 a0028	a0001c0001 a0001c0009 a0003c0003 others(11): Show a0001c0001 a0001c0009 a0003c0003 a0004c0004 a0005c0005 a0006c0012 a0006c0017 a0007c0006 a0009c0010 a0012c0013 a0013c0035 a0019c0022 a0022c0020 a0028c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0009t0005 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0006c0012t0001 a0006c0017t0001 a0007c0006t0001 a0009c0010t0001 a0012c0013t0001 a0013c0035t0001 a0019c0022t0001 a0022c0020t0001 a0028c0033t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(92): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0004g0049 a0001c0001t0004g0086 a0001c0009t0005g0022 a0001c0009t0005g0023 a0003c0003t0001g0030 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0047 a0004c0004t0001g0039 a0004c0004t0001g0051 a0004c0004t0001g0055 a0005c0005t0001g0044 a0005c0005t0001g0050 a0005c0005t0001g0052 a0005c0005t0001g0053 a0006c0012t0001g0057 a0006c0012t0001g0077 a0006c0017t0001g0025 a0007c0006t0001g0018 a0007c0006t0001g0019 a0007c0006t0001g0026 a0009c0010t0001g0061 a0009c0010t0001g0073 a0012c0013t0001g0081 a0013c0035t0001g0071 a0019c0022t0001g0046 a0022c0020t0001g0069 a0028c0033t0001g0113	98	342	0.2866	0	c.833 others(5): Show c.833-4G>A		CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	7/26					chr15	TogoVar
CEP152_chr15_48732938_48816069	48810963	G G	C C	splice_region_variant splice_region_variant	LOW	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0007 a0002c0037t0007	a0002c0037t0007g0327 a0002c0037t0007g0327	1	342	0.0029	0	c.-10 others(3): Show c.-10C>G		CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	1/27					chr15	TogoVar
CEP162_chr6_84119250_84232643	84194886	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01346.hp1 HG02055.hp2 HG02451.hp2 HG01346.hp1 HG02055.hp2 HG02451.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0124 a0004c0009t0001g0134 a0004c0009t0001g0135 a0004c0009t0001g0124 a0004c0009t0001g0134 a0004c0009t0001g0135	3	214	0.0140	0	c.102 others(4): Show c.1025C>G	p.Ser others(6): Show p.Ser342Cys	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	10/27	1148/5155	1025/4212	342/1403		chr6	TogoVar
CEP164_chr11_117322854_117418266	117335579	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00544.hp1 HG00597.hp1 others(23): Show HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG01168.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG03098.hp1 HG03130.hp2 HG03579.hp2 NA18945.hp1 NA18966.hp2 NA18967.hp1 NA18978.hp1 NA18986.hp2 NA18989.hp2 NA19012.hp1 NA19067.hp1 NA19090.hp2 NA20129.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0008 a0024 a0025	a0001c0005 a0002c0001 a0002c0038 others(6): Show a0001c0005 a0002c0001 a0002c0038 a0004c0004 a0004c0034 a0005c0006 a0008c0011 a0024c0030 a0025c0029	a0001c0005t0005 a0002c0001t0001 a0002c0001t0003 others(10): Show a0001c0005t0005 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0038t0003 a0004c0004t0001 a0004c0004t0010 a0004c0034t0007 a0005c0006t0007 a0008c0011t0007 a0008c0011t0012 a0024c0030t0021 a0025c0029t0012	a0001c0005t0005g0250 a0002c0001t0001g0090 a0002c0001t0003g0002 others(20): Show a0001c0005t0005g0250 a0002c0001t0001g0090 a0002c0001t0003g0002 a0002c0001t0003g0186 a0002c0001t0003g0194 a0002c0001t0003g0195 a0002c0001t0003g0197 a0002c0001t0003g0198 a0002c0001t0003g0258 a0002c0001t0004g0196 a0002c0038t0003g0203 a0004c0004t0001g0316 a0004c0004t0010g0073 a0004c0034t0007g0039 a0005c0006t0007g0048 a0005c0006t0007g0049 a0005c0006t0007g0076 a0005c0006t0007g0077 a0008c0011t0007g0028 a0008c0011t0012g0080 a0008c0011t0012g0081 a0024c0030t0021g0038 a0025c0029t0012g0079	26	390	0.0667	1	c.-97 others(6): Show c.-97-8dupT		CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	1/32				INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP164_chr11_117322854_117418266	117390772	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(37): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00741.hp1 HG01167.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02083.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02683.hp2 HG02698.hp2 HG03239.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp2 HG04228.hp1 NA18960.hp1 NA18964.hp1 NA18972.hp2 NA18979.hp2 NA18980.hp2 NA18988.hp1 NA18991.hp1 NA19002.hp1 NA19003.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19080.hp1 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0004 a0003c0003t0011 others(1): Show a0003c0003t0002 a0003c0003t0004 a0003c0003t0011 a0003c0003t0017	a0003c0003t0002g0128 a0003c0003t0004g0006 a0003c0003t0004g0034 others(36): Show a0003c0003t0002g0128 a0003c0003t0004g0006 a0003c0003t0004g0034 a0003c0003t0004g0035 a0003c0003t0004g0074 a0003c0003t0004g0099 a0003c0003t0004g0101 a0003c0003t0004g0102 a0003c0003t0004g0103 a0003c0003t0004g0104 a0003c0003t0004g0105 a0003c0003t0004g0106 a0003c0003t0004g0107 a0003c0003t0004g0108 a0003c0003t0004g0109 a0003c0003t0004g0110 a0003c0003t0004g0111 a0003c0003t0004g0120 a0003c0003t0004g0121 a0003c0003t0004g0126 a0003c0003t0004g0127 a0003c0003t0004g0130 a0003c0003t0004g0131 a0003c0003t0004g0132 a0003c0003t0004g0133 a0003c0003t0004g0136 a0003c0003t0004g0137 a0003c0003t0004g0138 a0003c0003t0004g0139 a0003c0003t0004g0140 a0003c0003t0004g0223 a0003c0003t0004g0224 a0003c0003t0004g0229 a0003c0003t0004g0230 a0003c0003t0004g0231 a0003c0003t0011g0119 a0003c0003t0011g0123 a0003c0003t0011g0232 a0003c0003t0017g0233	40	390	0.1026	0	c.193 others(6): Show c.1935-5C>G		CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	15/32					chr11	TogoVar
CEP170B_chr14_104860268_104901747	104877887	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0024 a0001c0032t0024	a0001c0032t0024g0175 a0001c0032t0024g0175	1	328	0.0031	0	c.198 others(3): Show c.198G>A	p.Thr others(5): Show p.Thr66Thr	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	4/19	471/6727	198/4665	66/1554		chr14	TogoVar
CEP170B_chr14_104860268_104901747	104889617	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00438.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0098 a0009c0024t0001g0098	1	328	0.0031	0	c.374 others(6): Show c.3740-3C>A		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	12/18					chr14	TogoVar
CEP170B_chr14_104860268_104901747	104892968	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG01099.hp1 HG01168.hp2 others(11): Show HG00438.hp1 HG01099.hp1 HG01168.hp2 HG01496.hp1 HG02698.hp2 HG02735.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp2 HG04228.hp1 NA18982.hp2 NA19058.hp2 NA19064.hp2 NA19089.hp2	a0001 a0002 a0017 others(1): Show a0001 a0002 a0017 a0024	a0001c0006 a0001c0035 a0001c0037 others(4): Show a0001c0006 a0001c0035 a0001c0037 a0001c0038 a0002c0009 a0017c0033 a0024c0036	a0001c0006t0005 a0001c0006t0007 a0001c0035t0013 others(5): Show a0001c0006t0005 a0001c0006t0007 a0001c0035t0013 a0001c0037t0005 a0001c0038t0005 a0002c0009t0012 a0017c0033t0009 a0024c0036t0007	a0001c0006t0005g0023 a0001c0006t0005g0036 a0001c0006t0005g0074 others(10): Show a0001c0006t0005g0023 a0001c0006t0005g0036 a0001c0006t0005g0074 a0001c0006t0005g0154 a0001c0006t0005g0155 a0001c0006t0005g0271 a0001c0006t0007g0024 a0001c0035t0013g0158 a0001c0037t0005g0157 a0001c0038t0005g0176 a0002c0009t0012g0183 a0017c0033t0009g0023 a0024c0036t0007g0159	14	328	0.0427	0	c.387 others(6): Show c.3879-8G>A		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18					chr14	TogoVar
CEP170B_chr14_104860268_104901747	104892969	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(136): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18940.hp2 NA18948.hp2 NA18960.hp2 NA18975.hp2 NA18982.hp2 NA18995.hp2 NA19002.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19064.hp2 NA19074.hp2 NA19083.hp1 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0006 a0008 a0010 a0013 a0017 a0018 a0020 a0021 a0024 a0026	a0001c0001 a0001c0002 a0001c0003 others(42): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0013 a0001c0017 a0001c0019 a0001c0020 a0001c0032 a0001c0035 a0001c0037 a0001c0038 a0001c0061 a0001c0062 a0001c0065 a0001c0069 a0001c0073 a0001c0075 a0001c0080 a0001c0082 a0001c0083 a0001c0087 a0001c0088 a0002c0004 a0002c0009 a0002c0012 a0002c0028 a0002c0029 a0002c0060 a0002c0064 a0003c0026 a0003c0067 a0003c0078 a0006c0030 a0008c0063 a0008c0086 a0010c0025 a0013c0089 a0017c0033 a0018c0068 a0020c0084 a0021c0085 a0024c0036 a0026c0072	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(46): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0003t0020 a0001c0003t0021 a0001c0006t0005 a0001c0006t0007 a0001c0010t0002 a0001c0013t0002 a0001c0017t0002 a0001c0019t0002 a0001c0020t0002 a0001c0032t0024 a0001c0035t0013 a0001c0037t0005 a0001c0038t0005 a0001c0061t0017 a0001c0062t0002 a0001c0065t0002 a0001c0069t0002 a0001c0073t0002 a0001c0075t0002 a0001c0080t0018 a0001c0082t0002 a0001c0083t0002 a0001c0087t0002 a0001c0088t0002 a0002c0004t0002 a0002c0009t0002 a0002c0009t0012 a0002c0012t0002 a0002c0028t0002 a0002c0029t0002 a0002c0060t0002 a0002c0064t0002 a0003c0026t0002 a0003c0067t0002 a0003c0078t0002 a0006c0030t0002 a0008c0063t0002 a0008c0086t0002 a0010c0025t0002 a0013c0089t0002 a0017c0033t0009 a0018c0068t0019 a0020c0084t0002 a0021c0085t0002 a0024c0036t0007 a0026c0072t0002	a0001c0001t0002g0243 a0001c0002t0002g0002 a0001c0002t0002g0005 others(117): Show a0001c0001t0002g0243 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0027 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0202 a0001c0002t0002g0205 a0001c0002t0002g0219 a0001c0002t0002g0224 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0003t0002g0005 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0193 a0001c0003t0002g0198 a0001c0003t0002g0201 a0001c0003t0002g0204 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0225 a0001c0003t0002g0232 a0001c0003t0002g0235 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0020g0244 a0001c0003t0021g0199 a0001c0006t0005g0023 a0001c0006t0005g0036 a0001c0006t0005g0074 a0001c0006t0005g0154 a0001c0006t0005g0155 a0001c0006t0005g0271 a0001c0006t0007g0024 a0001c0010t0002g0003 a0001c0010t0002g0050 a0001c0010t0002g0051 a0001c0010t0002g0052 a0001c0010t0002g0053 a0001c0013t0002g0003 a0001c0013t0002g0037 a0001c0017t0002g0170 a0001c0017t0002g0173 a0001c0017t0002g0174 a0001c0019t0002g0167 a0001c0019t0002g0168 a0001c0019t0002g0172 a0001c0020t0002g0026 a0001c0020t0002g0160 a0001c0020t0002g0164 a0001c0032t0024g0175 a0001c0035t0013g0158 a0001c0037t0005g0157 a0001c0038t0005g0176 a0001c0061t0017g0178 a0001c0062t0002g0177 a0001c0065t0002g0268 a0001c0069t0002g0026 a0001c0073t0002g0162 a0001c0075t0002g0163 a0001c0080t0018g0078 a0001c0082t0002g0200 a0001c0083t0002g0226 a0001c0087t0002g0209 a0001c0088t0002g0237 a0002c0004t0002g0007 a0002c0004t0002g0028 a0002c0004t0002g0030 a0002c0004t0002g0179 a0002c0004t0002g0181 a0002c0004t0002g0203 a0002c0004t0002g0208 a0002c0004t0002g0212 a0002c0004t0002g0216 a0002c0004t0002g0217 a0002c0004t0002g0227 a0002c0009t0002g0006 a0002c0009t0002g0185 a0002c0009t0002g0207 a0002c0009t0002g0215 a0002c0009t0012g0183 a0002c0012t0002g0029 a0002c0012t0002g0211 a0002c0012t0002g0228 a0002c0028t0002g0206 a0002c0028t0002g0218 a0002c0029t0002g0031 a0002c0060t0002g0186 a0002c0064t0002g0171 a0003c0026t0002g0025 a0003c0026t0002g0250 a0003c0067t0002g0025 a0003c0078t0002g0249 a0006c0030t0002g0184 a0006c0030t0002g0210 a0008c0063t0002g0169 a0008c0086t0002g0220 a0010c0025t0002g0269 a0010c0025t0002g0270 a0013c0089t0002g0006 a0017c0033t0009g0023 a0018c0068t0019g0080 a0020c0084t0002g0236 a0021c0085t0002g0223 a0024c0036t0007g0159 a0026c0072t0002g0165	139	328	0.4238	0	c.387 others(6): Show c.3879-7G>C		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18					chr14	TogoVar
CEP170B_chr14_104860268_104901747	104892970	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	328	0.0031	0	c.387 others(6): Show c.3879-6C>G		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18					chr14	TogoVar
CEP170B_chr14_104860268_104901747	104894385	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG02723.hp1	a0030 a0030	a0030c0040 a0030c0040	a0030c0040t0011 a0030c0040t0011	a0030c0040t0011g0273 a0030c0040t0011g0273	1	328	0.0031	0	c.436 others(6): Show c.4365+7G>A		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	17/18					chr14	TogoVar
CEP192_chr18_12986362_13130036	13001459	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0020 a0020	a0020c0046 a0020c0046	a0020c0046t0001 a0020c0046t0001	a0020c0046t0001g0287 a0020c0046t0001g0287	1	392	0.0026	0	c.167 others(3): Show c.167A>G	p.Tyr others(5): Show p.Tyr56Cys	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	3/45	247/7960	167/7614	56/2537		chr18	TogoVar
CEP192_chr18_12986362_13130036	13015328	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02559.hp2 HG02976.hp2 HG03139.hp1 HG02559.hp2 HG02976.hp2 HG03139.hp1	a0019 a0035 a0019 a0035	a0019c0019 a0035c0044 a0019c0019 a0035c0044	a0019c0019t0001 a0035c0044t0001 a0019c0019t0001 a0035c0044t0001	a0019c0019t0001g0166 a0019c0019t0001g0167 a0035c0044t0001g0165 a0019c0019t0001g0166 a0019c0019t0001g0167 a0035c0044t0001g0165	3	392	0.0077	0	c.520 others(3): Show c.520A>C	p.Ile others(6): Show p.Ile174Leu	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	6/45	600/7960	520/7614	174/2537		chr18	TogoVar
CEP192_chr18_12986362_13130036	13019206	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02615.hp1 HG02622.hp1 HG02896.hp1 others(2): Show HG02615.hp1 HG02622.hp1 HG02896.hp1 HG02897.hp1 NA20805.hp1	a0015 a0032 a0034 a0015 a0032 a0034	a0015c0012 a0032c0032 a0034c0031 a0015c0012 a0032c0032 a0034c0031	a0015c0012t0001 a0032c0032t0001 a0034c0031t0001 a0015c0012t0001 a0032c0032t0001 a0034c0031t0001	a0015c0012t0001g0011 a0015c0012t0001g0114 a0015c0012t0001g0115 others(2): Show a0015c0012t0001g0011 a0015c0012t0001g0114 a0015c0012t0001g0115 a0032c0032t0001g0119 a0034c0031t0001g0011	5	392	0.0128	0	c.105 others(4): Show c.1050T>C	p.Ser others(6): Show p.Ser350Ser	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	9/45	1130/7960	1050/7614	350/2537		chr18	TogoVar
CEP192_chr18_12986362_13130036	13068235	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0002 a0016c0015t0002	a0016c0015t0002g0040 a0016c0015t0002g0041 a0016c0015t0002g0040 a0016c0015t0002g0041	2	392	0.0051	0	c.475 others(4): Show c.4756C>G	p.Gln others(7): Show p.Gln1586Glu	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	23/45	4836/7960	4756/7614	1586/2537		chr18	TogoVar
CEP192_chr18_12986362_13130036	13068429	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19064.hp1 NA19064.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0121 a0005c0005t0001g0121	1	392	0.0026	0	c.482 others(6): Show c.4822+7T>C		CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	24/44					chr18	TogoVar
CEP192_chr18_12986362_13130036	13089457	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0022 a0022	a0022c0028 a0022c0028	a0022c0028t0001 a0022c0028t0001	a0022c0028t0001g0357 a0022c0028t0001g0357	1	392	0.0026	0	c.599 others(4): Show c.5995G>T	p.Ala others(7): Show p.Ala1999Ser	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	33/45	6075/7960	5995/7614	1999/2537		chr18	TogoVar
CEP192_chr18_12986362_13130036	13117641	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0296 a0002c0023t0001g0296	1	392	0.0026	0	c.747 others(4): Show c.7473G>A	p.Leu others(7): Show p.Leu2491Leu	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	44/45	7553/7960	7473/7614	2491/2537		chr18	TogoVar
CEP20_chr16_15860719_15893603	15879796	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00621.hp2 HG00735.hp1 others(67): Show HG00423.hp1 HG00621.hp2 HG00735.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02451.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19011.hp2 NA19056.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0004 a0002c0002t0008 others(3): Show a0001c0001t0001 a0002c0002t0004 a0002c0002t0008 a0002c0002t0012 a0002c0002t0013 a0003c0003t0004	a0001c0001t0001g0088 a0002c0002t0004g0008 a0002c0002t0004g0009 others(36): Show a0001c0001t0001g0088 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0019 a0002c0002t0004g0020 a0002c0002t0004g0031 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0072 a0002c0002t0004g0073 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0078 a0002c0002t0004g0079 a0002c0002t0004g0081 a0002c0002t0004g0083 a0002c0002t0004g0084 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0002t0004g0089 a0002c0002t0004g0090 a0002c0002t0004g0091 a0002c0002t0004g0092 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0097 a0002c0002t0004g0099 a0002c0002t0008g0029 a0002c0002t0008g0080 a0002c0002t0008g0082 a0002c0002t0012g0098 a0002c0002t0013g0087 a0003c0003t0004g0030	70	433	0.1617	0	c.311 others(5): Show c.311+8A>T		CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	3/4					chr16	TogoVar
CEP20_chr16_15860719_15893603	15879797	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(341): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0002c0002t0004 a0002c0002t0008 a0002c0002t0012 a0002c0002t0013 a0003c0003t0004 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(173): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0068 a0001c0001t0002g0219 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0022 a0001c0001t0003g0044 a0001c0001t0003g0100 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0209 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0005g0018 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0159 a0001c0001t0006g0005 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0007g0007 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0009g0053 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0011g0026 a0001c0001t0016g0139 a0001c0001t0018g0170 a0001c0001t0019g0188 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0019 a0002c0002t0004g0020 a0002c0002t0004g0031 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0072 a0002c0002t0004g0073 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0078 a0002c0002t0004g0079 a0002c0002t0004g0081 a0002c0002t0004g0083 a0002c0002t0004g0084 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0002t0004g0089 a0002c0002t0004g0090 a0002c0002t0004g0091 a0002c0002t0004g0092 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0097 a0002c0002t0004g0099 a0002c0002t0008g0029 a0002c0002t0008g0080 a0002c0002t0008g0082 a0002c0002t0012g0098 a0002c0002t0013g0087 a0003c0003t0004g0030 a0004c0004t0001g0134	344	433	0.7945	0	c.311 others(5): Show c.311+7C>A		CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	3/4					chr16	TogoVar

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