JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CEP120_chr5_123339892_123428403	123357592	AAAACCCT others(8): Show AAAACCCTGTCTTTAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0077 a0001c0005t0005g0077	1	376	0.0027	-15	c.258 others(34): Show c.2580+6889_2580+6903delGTAAAGACAGGGTTT	CEP120	ENSG00000168944.17	transcript	ENST00000306467.10	protein_coding	18/19			chr5	TogoVar
CEP120_chr5_123339892_123428403	123366005	TCACACTA others(8): Show TCACACTAACTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(255): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0005 a0001c0006 a0001c0011 others(14): Show a0001c0005 a0001c0006 a0001c0011 a0001c0016 a0002c0002 a0002c0008 a0002c0009 a0002c0015 a0003c0003 a0003c0018 a0004c0004 a0005c0007 a0006c0010 a0007c0017 a0008c0012 a0009c0014 a0010c0019	a0001c0005t0003 a0001c0005t0005 a0001c0006t0001 others(25): Show a0001c0005t0003 a0001c0005t0005 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0008 a0001c0006t0009 a0001c0006t0013 a0001c0011t0002 a0001c0016t0002 a0002c0002t0001 a0002c0002t0014 a0002c0002t0018 a0002c0008t0002 a0002c0009t0001 a0002c0009t0010 a0002c0015t0001 a0003c0003t0001 a0003c0003t0017 a0003c0018t0001 a0004c0004t0003 a0005c0007t0003 a0006c0010t0002 a0006c0010t0015 a0007c0017t0002 a0008c0012t0016 a0009c0014t0005 a0010c0019t0003	a0001c0005t0003g0011 a0001c0005t0003g0063 a0001c0005t0003g0081 others(229): Show a0001c0005t0003g0011 a0001c0005t0003g0063 a0001c0005t0003g0081 a0001c0005t0003g0082 a0001c0005t0003g0083 a0001c0005t0003g0084 a0001c0005t0003g0085 a0001c0005t0003g0090 a0001c0005t0003g0091 a0001c0005t0003g0092 a0001c0005t0003g0096 a0001c0005t0003g0323 a0001c0005t0005g0004 a0001c0005t0005g0012 a0001c0005t0005g0036 a0001c0005t0005g0064 a0001c0005t0005g0066 a0001c0005t0005g0067 a0001c0005t0005g0068 a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0072 a0001c0005t0005g0073 a0001c0005t0005g0074 a0001c0005t0005g0075 a0001c0005t0005g0077 a0001c0005t0005g0078 a0001c0005t0005g0079 a0001c0005t0005g0080 a0001c0006t0001g0103 a0001c0006t0002g0006 a0001c0006t0002g0204 a0001c0006t0002g0205 a0001c0006t0002g0206 a0001c0006t0002g0207 a0001c0006t0002g0324 a0001c0006t0003g0322 a0001c0006t0008g0010 a0001c0006t0009g0030 a0001c0006t0013g0208 a0001c0011t0002g0203 a0001c0016t0002g0210 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0032 a0002c0002t0001g0095 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0138 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0294 a0002c0002t0014g0124 a0002c0002t0018g0328 a0002c0008t0002g0217 a0002c0008t0002g0218 a0002c0008t0002g0219 a0002c0008t0002g0220 a0002c0009t0001g0125 a0002c0009t0010g0031 a0002c0015t0001g0318 a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0101 a0003c0003t0001g0115 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0173 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0305 a0003c0003t0001g0306 a0003c0003t0001g0307 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0310 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0319 a0003c0003t0017g0177 a0003c0018t0001g0304 a0004c0004t0003g0013 a0004c0004t0003g0015 a0004c0004t0003g0037 a0004c0004t0003g0038 a0004c0004t0003g0039 a0004c0004t0003g0040 a0004c0004t0003g0041 a0004c0004t0003g0042 a0004c0004t0003g0043 a0004c0004t0003g0044 a0004c0004t0003g0045 a0004c0004t0003g0046 a0004c0004t0003g0047 a0004c0004t0003g0048 a0004c0004t0003g0049 a0004c0004t0003g0050 a0004c0004t0003g0051 a0004c0004t0003g0052 a0004c0004t0003g0053 a0004c0004t0003g0054 a0004c0004t0003g0055 a0004c0004t0003g0056 a0004c0004t0003g0057 a0004c0004t0003g0058 a0004c0004t0003g0059 a0004c0004t0003g0060 a0004c0004t0003g0061 a0004c0004t0003g0062 a0004c0004t0003g0093 a0004c0004t0003g0094 a0004c0004t0003g0097 a0004c0004t0003g0100 a0005c0007t0003g0086 a0005c0007t0003g0087 a0005c0007t0003g0088 a0005c0007t0003g0089 a0005c0007t0003g0098 a0005c0007t0003g0099 a0006c0010t0002g0202 a0006c0010t0015g0033 a0007c0017t0002g0209 a0008c0012t0016g0069 a0009c0014t0005g0076 a0010c0019t0003g0108	258	376	0.6862	-15	c.248 others(34): Show c.2482-1426_2482-1412delTTTTAAGTTAGTGTG	CEP120	ENSG00000168944.17	transcript	ENST00000306467.10	protein_coding	17/19			chr5	TogoVar
CEP126_chr11_101910010_102006062	101911094	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03453.hp2 HG02895.hp1 HG02897.hp1 HG03453.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0016 a0005c0006t0040 a0005c0006t0016 a0005c0006t0040	a0005c0006t0016g0316 a0005c0006t0016g0318 a0005c0006t0040g0317 a0005c0006t0016g0316 a0005c0006t0016g0318 a0005c0006t0040g0317	3	336	0.0089	-15	c.-41 others(26): Show c.-4190_-4176delTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3915		chr11	TogoVar
CEP126_chr11_101910010_102006062	101921777	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	336	0.0030	-15	c.129 others(30): Show c.129-853_129-839delTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101936205	ATTTTGGT others(8): Show ATTTTGGTTTGGGTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	336	0.0030	-15	c.249 others(32): Show c.249-8049_249-8035delGGTTTTTTTGGTTTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP128_chr14_80491479_80946738	80729055	GGGGGTGT others(8): Show GGGGGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0008 a0005c0005t0001g0008	1	164	0.0061	-15	c.280 others(36): Show c.2806+14005_2806+14019delACACACACACACCCC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729057	GGGTGTGT others(8): Show GGGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0158 a0002c0002t0006g0158	1	164	0.0061	-15	c.280 others(36): Show c.2806+14003_2806+14017delACACACACACACACC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP131_chr17_81184596_81227965	81212708	AGGGACAG others(8): Show AGGGACAGCAGACGAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0041 a0041	a0041c0057 a0041c0057	a0041c0057t0001 a0041c0057t0001	a0041c0057t0001g0139 a0041c0057t0001g0139	1	384	0.0026	-15	c.178 others(32): Show c.178-3701_178-3687delATCGTCTGCTGTCCC	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81219650	CCTGGGGC others(8): Show CCTGGGGCTGTTGCTG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0284 a0001c0004t0001g0284	1	384	0.0026	-15	c.177 others(30): Show c.177+215_177+229delCAGCAACAGCCCCAG	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP135_chr4_55943945_56038361	55961764	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG01071.hp1 others(8): Show HG00558.hp2 HG01069.hp1 HG01071.hp1 HG01175.hp1 HG01346.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp2 HG02451.hp2 HG03017.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0019 a0001c0003t0003g0273 others(3): Show a0001c0003t0003g0003 a0001c0003t0003g0019 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0276	11	346	0.0318	-15	c.699 others(32): Show c.699+2015_699+2029delAAAAAAAAAAAAAAA	CEP135	ENSG00000174799.12	transcript	ENST00000257287.5	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP162_chr6_84119250_84232643	84159545	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp2 HG02809.hp2 others(2): Show HG01109.hp1 HG02723.hp2 HG02809.hp2 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0007 a0001c0007t0002 a0001c0004t0007 a0001c0007t0002	a0001c0004t0007g0207 a0001c0007t0002g0018 a0001c0007t0002g0116 others(2): Show a0001c0004t0007g0207 a0001c0007t0002g0018 a0001c0007t0002g0116 a0001c0007t0002g0117 a0001c0007t0002g0118	5	214	0.0234	-15	c.278 others(34): Show c.2781+1252_2781+1266delAAAAAAAAAAAAATA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84159547	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02486.hp1 HG02717.hp2 others(4): Show HG01081.hp2 HG02486.hp1 HG02717.hp2 HG02976.hp2 HG03041.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0004t0010 a0001c0001t0001 a0001c0004t0002 a0001c0004t0010	a0001c0001t0001g0026 a0001c0004t0002g0012 a0001c0004t0002g0095 others(4): Show a0001c0001t0001g0026 a0001c0004t0002g0012 a0001c0004t0002g0095 a0001c0004t0002g0102 a0001c0004t0002g0114 a0001c0004t0002g0189 a0001c0004t0010g0104	7	214	0.0327	-15	c.278 others(34): Show c.2781+1250_2781+1264delAAAAAAAAAAAAAAA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP192_chr18_12986362_13130036	13106428	CCACACAA others(8): Show CCACACAACCCTCAAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp2 others(66): Show HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00673.hp2 HG01168.hp2 HG01192.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02738.hp1 HG03491.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19055.hp2 NA19056.hp1 NA19067.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA20905.hp2 NA21309.hp2	a0001 a0029 a0001 a0029	a0001c0002 a0001c0034 a0001c0037 others(2): Show a0001c0002 a0001c0034 a0001c0037 a0001c0041 a0029c0036	a0001c0002t0001 a0001c0034t0001 a0001c0037t0001 others(2): Show a0001c0002t0001 a0001c0034t0001 a0001c0037t0001 a0001c0041t0001 a0029c0036t0001	a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 others(63): Show a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0034t0001g0246 a0001c0037t0001g0223 a0001c0041t0001g0240 a0029c0036t0001g0214	69	392	0.1760	-15	c.704 others(34): Show c.7047+1350_7047+1364delCACACAACCCTCAAT	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	40/44			chr18	TogoVar
CEP20_chr16_15860719_15893603	15861477	AAATAATA others(8): Show AAATAATAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG02109.hp1 others(6): Show HG01081.hp2 HG01243.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02647.hp2 HG02897.hp2 HG03453.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0048 a0001c0001t0002g0011 a0001c0001t0005g0061 others(6): Show a0001c0001t0001g0048 a0001c0001t0002g0011 a0001c0001t0005g0061 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0009g0053 a0001c0001t0009g0054 a0001c0001t0009g0055	9	433	0.0208	-15	c.59 others(26): Show c.5948_*5962delATTATTATTATTATT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		4241		chr16	TogoVar
CEP250_chr20_35450598_35524280	35483324	AAAAAAAA others(8): Show AAAAAAAAAAAATTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG03209.hp2 HG03540.hp1	a0001 a0005 a0017 a0001 a0005 a0017	a0001c0011 a0005c0007 a0017c0016 a0001c0011 a0005c0007 a0017c0016	a0001c0011t0023 a0001c0011t0063 a0005c0007t0021 others(3): Show a0001c0011t0023 a0001c0011t0063 a0005c0007t0021 a0005c0007t0022 a0005c0007t0062 a0017c0016t0023	a0001c0011t0023g0037 a0001c0011t0063g0137 a0005c0007t0021g0009 others(5): Show a0001c0011t0023g0037 a0001c0011t0063g0137 a0005c0007t0021g0009 a0005c0007t0021g0135 a0005c0007t0022g0134 a0005c0007t0022g0136 a0005c0007t0062g0009 a0017c0016t0023g0038	8	260	0.0308	-15	c.258 others(34): Show c.2586+3180_2586+3194delAAAAAAAAAAATTTT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding	20/34			chr20	TogoVar
CEP295_chr11_93656682_93735358	93701935	GGTTGTTG others(8): Show GGTTGTTGTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02015.hp1 HG00438.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0266 a0001c0001t0001g0267	2	354	0.0057	-15	c.527 others(32): Show c.5275-515_5275-501delTTTGTTGTTGTTGTT	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP350_chr1_179949810_180119875	180016876	AGGTCTTA others(8): Show AGGTCTTAAACTCCTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0238 a0009c0010t0002g0239 a0009c0010t0002g0240 a0009c0010t0002g0238 a0009c0010t0002g0239 a0009c0010t0002g0240	3	248	0.0121	-15	c.217 others(32): Show c.2174+907_2174+921delGGTCTTAAACTCCTG	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	11/37			chr1	TogoVar
CEP350_chr1_179949810_180119875	180080804	ACCATATT others(8): Show ACCATATTGAATATTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG01256.hp2 others(2): Show HG00323.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp2 HG03654.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0006 a0007c0008t0011 a0007c0008t0006 a0007c0008t0011	a0007c0008t0006g0013 a0007c0008t0006g0014 a0007c0008t0006g0015 others(2): Show a0007c0008t0006g0013 a0007c0008t0006g0014 a0007c0008t0006g0015 a0007c0008t0006g0018 a0007c0008t0011g0016	5	248	0.0202	-15	c.612 others(32): Show c.6124+157_6124+171delTGCCATATTGAATAT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP44_chr4_174278911_174325328	174303262	GTGTTTTT others(8): Show GTGTTTTTTTTCATTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00621.hp2 others(40): Show HG00323.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01981.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02809.hp2 HG02970.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG04115.hp2 NA18747.hp2 NA18947.hp1 NA18957.hp1 NA18962.hp1 NA18966.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18987.hp1 NA18989.hp2 NA19003.hp1 NA19043.hp1 NA19054.hp1 NA19059.hp1 NA19066.hp2 NA19070.hp1 NA19084.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0008 a0004c0006 a0002c0002 a0002c0008 a0004c0006	a0002c0002t0004 a0002c0002t0009 a0002c0002t0012 others(5): Show a0002c0002t0004 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0019 a0002c0002t0030 a0002c0008t0004 a0004c0006t0012	a0002c0002t0004g0013 a0002c0002t0004g0022 a0002c0002t0004g0023 others(35): Show a0002c0002t0004g0013 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0066 a0002c0002t0004g0067 a0002c0002t0004g0069 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0004g0072 a0002c0002t0004g0073 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0078 a0002c0002t0004g0079 a0002c0002t0004g0080 a0002c0002t0004g0082 a0002c0002t0004g0083 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0088 a0002c0002t0004g0089 a0002c0002t0009g0091 a0002c0002t0009g0095 a0002c0002t0009g0096 a0002c0002t0009g0097 a0002c0002t0009g0099 a0002c0002t0012g0093 a0002c0002t0012g0094 a0002c0002t0013g0081 a0002c0002t0013g0090 a0002c0002t0019g0098 a0002c0002t0030g0068 a0002c0008t0004g0063 a0004c0006t0012g0103	43	388	0.1108	-15	c.238 others(30): Show c.238-439_238-425delGTTTTTTTTCATTTT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP57L1_chr6_109090507_109179418	109116122	GTGTTGTG others(8): Show GTGTTGTGTTATGTTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0029 a0001c0007t0029	a0001c0007t0029g0005 a0001c0007t0029g0005	1	228	0.0044	-15	c.-4+ others(32): Show c.-4+20552_-4+20566delGTGTTATGTTATGTT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109116127	GTGTTATG others(8): Show GTGTTATGTTATGTTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02004.hp1 others(12): Show HG01109.hp1 HG01884.hp1 HG02004.hp1 HG02027.hp2 HG02647.hp2 HG02698.hp1 HG02976.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03704.hp1 NA18977.hp2 NA19062.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054 a0001c0001t0063 a0001c0001t0087 a0001c0001t0088	a0001c0001t0001g0103 a0001c0001t0001g0158 a0001c0001t0006g0167 others(12): Show a0001c0001t0001g0103 a0001c0001t0001g0158 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0015g0175 a0001c0001t0018g0153 a0001c0001t0020g0194 a0001c0001t0047g0171 a0001c0001t0048g0170 a0001c0001t0054g0169 a0001c0001t0063g0151 a0001c0001t0087g0159 a0001c0001t0088g0160	15	228	0.0658	-15	c.-4+ others(32): Show c.-4+20598_-4+20612delTGTTATGTTATGTTA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109136700	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG02004.hp1 others(14): Show HG01109.hp1 HG01123.hp1 HG02004.hp1 HG02027.hp2 HG02572.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02886.hp2 HG02895.hp2 HG03195.hp2 HG03471.hp1 NA18977.hp2 NA19030.hp2 NA19062.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054 a0001c0001t0059 a0001c0001t0060 a0001c0001t0069	a0001c0001t0001g0065 a0001c0001t0001g0214 a0001c0001t0005g0192 others(14): Show a0001c0001t0001g0065 a0001c0001t0001g0214 a0001c0001t0005g0192 a0001c0001t0006g0161 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0176 a0001c0001t0015g0162 a0001c0001t0015g0175 a0001c0001t0017g0129 a0001c0001t0047g0171 a0001c0001t0048g0170 a0001c0001t0054g0169 a0001c0001t0059g0165 a0001c0001t0060g0174 a0001c0001t0069g0163	17	228	0.0746	-15	c.-3- others(30): Show c.-3-8470_-3-8456delTATTTTATTTTATTT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP63_chr3_134481057_134570031	134550665	CAAGTGGG others(8): Show CAAGTGGGATGAGTGG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0151 a0002c0002t0001g0270 a0001c0003t0001g0151 a0002c0002t0001g0270	2	322	0.0062	-15	c.138 others(32): Show c.1380+409_1380+423delTGGGATGAGTGGAAG	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP72_chr5_607340_658553	649652	CTGTGAGG others(8): Show CTGTGAGGTGTGCCTG	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0022	1	91	0.0110	-15	c.177 others(34): Show c.1778+1739_1778+1753delTGAGGTGTGCCTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP76_chr18_12667625_12707723	12668597	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp2 others(57): Show HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp2 HG01069.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp2 HG01433.hp1 HG01952.hp1 HG01975.hp1 HG02004.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02602.hp1 HG03516.hp1 HG03688.hp1 HG03831.hp1 HG04204.hp1 NA18939.hp2 NA18944.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp2 NA18975.hp1 NA18981.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19012.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0016 others(38): Show a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0010g0267	60	380	0.1579	-15	c.47 others(26): Show c.4753_*4767delTTTTTTTTTTTTTTT	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		4027		chr18	TogoVar
CEP83_chr12_94302698_94464867	94331289	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG01361.hp2 others(4): Show HG00099.hp2 HG01192.hp2 HG01361.hp2 HG01496.hp1 HG02698.hp2 HG03688.hp2 NA20805.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0354 a0003c0005t0005g0355 a0003c0005t0005g0356 others(4): Show a0003c0005t0005g0354 a0003c0005t0005g0355 a0003c0005t0005g0356 a0003c0005t0005g0357 a0003c0005t0005g0358 a0003c0005t0005g0359 a0003c0005t0005g0360	7	364	0.0192	-15	c.170 others(32): Show c.1707+396_1707+410delTTTTTTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118496356	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02897.hp2 HG02818.hp2 HG02897.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0049 a0004c0004t0006g0052 a0004c0004t0006g0049 a0004c0004t0006g0052	2	302	0.0066	-15	c.125 others(34): Show c.1258-4506_1258-4492delTAAAATAAAATAAAA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519560	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02630.hp1 others(4): Show HG02109.hp2 HG02451.hp2 HG02630.hp1 HG03139.hp1 HG03225.hp1 HG03942.hp2 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0043 a0004c0004t0006g0045 a0004c0004t0006g0046 others(4): Show a0004c0004t0006g0043 a0004c0004t0006g0045 a0004c0004t0006g0046 a0004c0004t0006g0048 a0004c0004t0006g0050 a0004c0004t0006g0053 a0004c0004t0006g0054	7	302	0.0232	-15	c.113 others(34): Show c.1139+4227_1139+4241delACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519564	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp2 others(52): Show HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01358.hp1 HG01884.hp1 HG02027.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02559.hp2 HG02683.hp2 HG02698.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp2 HG03486.hp2 HG03491.hp1 HG03688.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18957.hp1 NA18964.hp2 NA18968.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18989.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19012.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19086.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0028 a0002c0002t0029 others(2): Show a0002c0002t0002 a0002c0002t0028 a0002c0002t0029 a0002c0002t0031 a0003c0003t0002	a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(52): Show a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0179 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0257 a0002c0002t0002g0290 a0002c0002t0028g0293 a0002c0002t0029g0210 a0002c0002t0031g0302 a0003c0003t0002g0219 a0003c0003t0002g0223 a0003c0003t0002g0232	55	302	0.1821	-15	c.113 others(34): Show c.1139+4223_1139+4237delACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118545001	GATAGGTA others(8): Show GATAGGTAAAATCTTC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02293.hp2 HG01981.hp1 HG02293.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0004 a0003c0003t0003g0005	2	302	0.0066	-15	c.102 others(36): Show c.1020+20513_1020+20527delGAAGATTTTACCTAT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600301	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0233 a0002c0002t0002g0195 a0002c0002t0002g0233	2	302	0.0066	-15	c.232 others(34): Show c.232+32137_232+32151delACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP89_chr19_32870925_32976958	32913298	TATATATA others(8): Show TATATATATTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0273 a0003c0003t0003g0273	1	386	0.0026	-15	c.156 others(34): Show c.1565+2024_1565+2038delCAAAAAAATATATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP97_chr3_101719614_101775562	101730231	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00609.hp2 others(105): Show HG00140.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02572.hp2 HG02602.hp1 HG02735.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG04115.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0012	a0001c0001 a0002c0003 a0004c0004 others(3): Show a0001c0001 a0002c0003 a0004c0004 a0005c0006 a0008c0012 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0002c0003t0002 a0004c0004t0002 a0005c0006t0002 a0008c0012t0001 a0012c0017t0002	a0001c0001t0001g0232 a0001c0001t0002g0001 a0001c0001t0002g0002 others(88): Show a0001c0001t0001g0232 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0311 a0001c0001t0006g0020 a0001c0001t0006g0194 a0001c0001t0006g0201 a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0012g0300 a0001c0001t0012g0301 a0001c0001t0012g0302 a0001c0001t0027g0204 a0002c0003t0002g0209 a0002c0003t0002g0212 a0002c0003t0002g0214 a0004c0004t0002g0018 a0005c0006t0002g0007 a0008c0012t0001g0233 a0012c0017t0002g0200	108	352	0.3068	-15	c.447 others(32): Show c.447+1332_447+1346delTTGTTTTGTTTTGTT	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEPT1_chr1_111135223_111190104	111154187	GTATTTTA others(8): Show GTATTTTATTTTATTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00733.hp1 others(36): Show HG00099.hp1 HG00280.hp1 HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01358.hp1 HG01891.hp1 HG01978.hp1 HG01981.hp2 HG02559.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18968.hp2 NA19004.hp1 NA19062.hp2 NA19066.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0041 others(31): Show a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0002g0118 a0001c0001t0002g0179 a0001c0001t0002g0187 a0001c0001t0003g0040 a0001c0001t0004g0039 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0183 a0001c0001t0004g0189 a0001c0001t0004g0195 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0009g0240 a0001c0002t0002g0042 a0001c0002t0002g0226	39	410	0.0951	-15	c.340 others(32): Show c.340-5142_340-5128delTATTTTATTTTATTT	CEPT1	ENSG00000134255.16	transcript	ENST00000357172.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
CERK_chr22_46679410_46743252	46713523	AAAAAAAC others(8): Show AAAAAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18998.hp1 NA18964.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0113 a0001c0001t0001g0114	2	340	0.0059	-15	c.380 others(32): Show c.380-1245_380-1231delGTTTGTTTGTTTTTT	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	3/12			chr22	TogoVar
CERS1_chr19_18863545_18901158	18868803	CGACGGGC others(8): Show CGACGGGCAGCGCGCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0224 a0001c0003t0011g0224	1	380	0.0026	-15	c.11 others(26): Show c.1167_*1181delTGCGCGCTGCCCGTC	CERS1	ENSG00000223802.9	transcript	ENST00000623882.4	protein_coding	8/8	1759		chr19	TogoVar
CERS1_chr19_18863545_18901158	18885914	TGCCATGC others(8): Show TGCCATGCCCGGGCAC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18945.hp1 NA18948.hp2 others(4): Show NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18998.hp1 NA19002.hp1 NA19010.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 others(4): Show a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0108 a0001c0001t0004g0112 a0001c0001t0004g0122	7	380	0.0184	-15	c.410 others(32): Show c.410-1662_410-1648delGTGCCCGGGCATGGC	CERS1	ENSG00000223802.9	transcript	ENST00000623882.4	protein_coding	2/7			chr19	TogoVar
CERS2_chr1_150960186_150979835	150971669	ACACAAAC others(8): Show ACACAAACACACACTT	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	382	0.0026	-15	c.-1- others(30): Show c.-1-2593_-1-2579delAAGTGTGTGTTTGTG	CERS2	ENSG00000143418.20	transcript	ENST00000368954.10	protein_coding	1/10			chr1	TogoVar
CERS3_chr15_100395395_100533950	100413510	GACTATAC others(8): Show GACTATACTATACTAT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	362	0.0028	-15	c.100 others(36): Show c.1000-10660_1000-10646delATAGTATAGTATAGT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	11/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100497880	CACACACA others(8): Show CACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02818.hp1 others(1): Show HG02486.hp2 HG02559.hp2 HG02818.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0012 a0001c0003t0022 a0002c0002t0035 a0001c0003t0012 a0001c0003t0022 a0002c0002t0035	a0001c0003t0012g0348 a0001c0003t0012g0349 a0001c0003t0022g0350 others(1): Show a0001c0003t0012g0348 a0001c0003t0012g0349 a0001c0003t0022g0350 a0002c0002t0035g0024	4	362	0.0111	-15	c.173 others(32): Show c.173+3782_173+3796delTGTGTGTGTGTGTGT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11			chr15	TogoVar
CERT1_chr5_75372775_75516629	75504932	ATTCATGT others(8): Show ATTCATGTCTAATGAC	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	336	0.0030	-15	c.231 others(32): Show c.231+1035_231+1049delGTCATTAGACATGAA	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75505285	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp1 HG03195.hp1 others(2): Show HG02559.hp2 HG03139.hp1 HG03195.hp1 HG03491.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 others(2): Show a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086	5	336	0.0149	-15	c.231 others(30): Show c.231+682_231+696delGTTTTGTTTTGTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CFAP100_chr3_126389909_126441556	126390701	AATGATAC others(8): Show AATGATACCTGAAACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0092 a0001c0008t0001g0092	1	422	0.0024	-15	c.-43 others(26): Show c.-4336_-4322delATGATACCTGAAACT	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding		4207		chr3	TogoVar
CFAP100_chr3_126389909_126441556	126401396	TTTATATA others(8): Show TTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	422	0.0024	-15	c.49+ others(30): Show c.49+5349_49+5363delTATATATATATATAT	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP161_chr15_81129270_81154179	81133212	TATATATA others(8): Show TATATATATATATGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	448	0.0022	-15	c.-11 others(26): Show c.-1117_-1103delATATATATATATGTA	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1057		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81133213	ATATATAT others(8): Show ATATATATATATGTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01123.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0120 a0001c0001t0001g0004 a0001c0001t0001g0120	2	448	0.0045	-15	c.-11 others(26): Show c.-1116_-1102delTATATATATATGTAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1056		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81146853	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	448	0.0022	-15	c.637 others(31): Show c.637-1004_637-990delATATATATATATATA	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	5/6			chr15	TogoVar
CFAP20_chr16_58108592_58134381	58123595	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18956.hp2 NA18962.hp2 others(2): Show HG03579.hp2 NA18956.hp2 NA18962.hp2 NA18990.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0092 a0001c0001t0001g0022 a0001c0001t0001g0092	5	400	0.0125	-15	c.84+ others(30): Show c.84+5422_84+5436delTTTTTTTTTTTTTTT	CFAP20	ENSG00000070761.8	transcript	ENST00000262498.8	protein_coding	1/5			chr16	TogoVar
CFAP210_chr2_169640425_169699405	169648162	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	390	0.0026	-15	c.131 others(34): Show c.1317+1005_1317+1019delTTTTTTTTTTTTTTT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	8/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169653028	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18952.hp1 NA19007.hp1 others(3): Show HG00558.hp2 NA18952.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19074.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0002c0002t0002 a0003c0003t0002	a0002c0002t0002g0071 a0002c0002t0002g0080 a0002c0002t0002g0081 others(3): Show a0002c0002t0002g0071 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0003c0003t0002g0041 a0003c0003t0002g0042	6	390	0.0154	-15	c.959 others(32): Show c.959+1032_959+1046delATATATATATATATT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar

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