Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CEP57L1_chr6_109090507_109179418	109177637	A A	AATATATA others(1): Show AATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(17): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01891.hp1 HG02027.hp2 HG02145.hp1 HG02145.hp2 HG02615.hp2 HG02622.hp2 HG02738.hp2 HG03225.hp1 HG03540.hp2 HG03688.hp1 HG06807.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0049 a0001c0001t0065 a0001c0001t0067 a0001c0001t0087 a0001c0003t0005 a0003c0005t0034 a0003c0005t0035	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0121 others(16): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0121 a0001c0001t0001g0158 a0001c0001t0001g0188 a0001c0001t0002g0047 a0001c0001t0007g0140 a0001c0001t0012g0218 a0001c0001t0012g0220 a0001c0001t0013g0190 a0001c0001t0015g0175 a0001c0001t0021g0104 a0001c0001t0049g0185 a0001c0001t0065g0147 a0001c0001t0067g0186 a0001c0001t0087g0159 a0001c0003t0005g0003 a0003c0005t0034g0208 a0003c0005t0035g0215	20	228	0.0877	8	c.14 others(21): Show c.14667_*14668insATATATAT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3220		chr6	TogoVar
CEP63_chr3_134481057_134570031	134494092	A A	ATATTTAT others(1): Show ATATTTATT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02074.hp1 HG02145.hp1 others(8): Show HG01175.hp1 HG02074.hp1 HG02145.hp1 HG02738.hp2 NA18939.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA20300.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0002 a0001c0001t0006 a0006c0014t0016 a0001c0001t0002 a0001c0001t0006 a0006c0014t0016	a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0067 others(8): Show a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0006g0072 a0001c0001t0006g0073 a0006c0014t0016g0093	11	322	0.0342	8	c.-25 others(25): Show c.-25-1170_-25-1163dupATTTATTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134528569	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp2 HG01891.hp1 others(17): Show HG00140.hp1 HG01109.hp2 HG01891.hp1 HG02015.hp1 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03453.hp1 NA18947.hp1 NA18951.hp1 NA18974.hp2 NA18986.hp2 NA18988.hp1 NA18994.hp2 NA18998.hp2 NA19030.hp1 NA19065.hp2 NA19084.hp1 NA19085.hp1 NA19091.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0015 a0007c0010	a0001c0001t0001 a0001c0001t0020 a0001c0003t0003 others(3): Show a0001c0001t0001 a0001c0001t0020 a0001c0003t0003 a0002c0002t0001 a0005c0015t0007 a0007c0010t0003	a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0001g0207 others(17): Show a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0221 a0001c0001t0001g0287 a0001c0001t0020g0092 a0001c0003t0003g0156 a0001c0003t0003g0165 a0001c0003t0003g0181 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0195 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0003t0003g0203 a0002c0002t0001g0244 a0002c0002t0001g0308 a0005c0015t0007g0112 a0007c0010t0003g0182	20	322	0.0621	8	c.223 others(25): Show c.223-3258_223-3251dupTGTGTGTG	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01255.hp2 HG02015.hp1 others(4): Show HG00609.hp2 HG01255.hp2 HG02015.hp1 HG02922.hp2 NA18947.hp1 NA18974.hp2 NA19076.hp1	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0001c0003 a0007c0010 others(1): Show a0001c0001 a0001c0003 a0007c0010 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0007c0010t0003 a0010c0009t0003	a0001c0001t0001g0299 a0001c0001t0002g0060 a0001c0001t0002g0104 others(4): Show a0001c0001t0001g0299 a0001c0001t0002g0060 a0001c0001t0002g0104 a0001c0003t0003g0156 a0001c0003t0003g0165 a0007c0010t0003g0182 a0010c0009t0003g0200	7	322	0.0217	8	c.555 others(25): Show c.555+1264_555+1265insATATATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP70_chr3_138489344_138599260	138499783	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(74): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG01255.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02165.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18956.hp1 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19086.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0003c0003 a0002c0002 a0002c0012 a0003c0003	a0002c0002t0002 a0002c0012t0002 a0003c0003t0003 a0002c0002t0002 a0002c0012t0002 a0003c0003t0003	a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 others(62): Show a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0012t0002g0268 a0003c0003t0003g0059	77	318	0.2421	8	c.165 others(25): Show c.1652+319_1652+326dupGTGTGTGT	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	16/17			chr3	TogoVar
CEP70_chr3_138489344_138599260	138544509	G G	GTGTATGT others(1): Show GTGTATGTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02622.hp2 HG03225.hp1 others(2): Show HG01496.hp1 HG02622.hp2 HG03225.hp1 HG03942.hp2 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0039 a0003c0003t0003g0064 a0003c0003t0003g0065 others(2): Show a0003c0003t0003g0039 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0107 a0003c0003t0003g0213	5	318	0.0157	8	c.466 others(25): Show c.466-7170_466-7163dupTACATACA	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	6/17			chr3	TogoVar
CEP72_chr5_607340_658553	650412	G G	GGTGTGGA others(1): Show GGTGTGGAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG02602.hp1 others(4): Show HG01175.hp1 HG01433.hp1 HG02602.hp1 HG03491.hp2 HG03834.hp2 HG04228.hp2 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 others(4): Show a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0079 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0088	7	91	0.0769	8	c.177 others(27): Show c.1778+2496_1778+2497insGTGTGGAC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP76_chr18_12667625_12707723	12695852	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01516.hp2 others(10): Show HG00639.hp1 HG00741.hp2 HG01516.hp2 HG01981.hp1 HG02257.hp2 HG02523.hp2 HG02622.hp1 HG02965.hp1 HG03669.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 a0001c0001t0001 a0001c0001t0002 a0003c0008t0001	a0001c0001t0001g0048 a0001c0001t0001g0084 a0001c0001t0001g0085 others(8): Show a0001c0001t0001g0048 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0002g0015 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0003c0008t0001g0057	13	380	0.0342	8	c.707 others(23): Show c.707-509_707-502dupTGTGTGTG	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	5/11			chr18	TogoVar
CEP76_chr18_12667625_12707723	12705570	A A	AGTGTGTG others(1): Show AGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01261.hp1 others(18): Show HG00741.hp2 HG01109.hp1 HG01261.hp1 HG01981.hp1 HG02135.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp2 HG02698.hp1 HG03130.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18953.hp2 NA18962.hp2 NA18970.hp1 NA18983.hp1 NA18984.hp1 NA18999.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 others(10): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0226 a0001c0001t0002g0239 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0009g0197	21	380	0.0553	8	c.-30 others(19): Show c.-3023_-3022insACACACAC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2848		chr18	TogoVar
CEP78_chr9_78231075_78284690	78236969	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02083.hp1 HG02258.hp2 others(3): Show HG01192.hp2 HG02083.hp1 HG02258.hp2 HG02615.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 a0001c0003 a0001c0004 a0001c0008	a0001c0003t0004 a0001c0003t0009 a0001c0004t0023 others(1): Show a0001c0003t0004 a0001c0003t0009 a0001c0004t0023 a0001c0008t0063	a0001c0003t0004g0214 a0001c0003t0009g0215 a0001c0003t0009g0217 others(3): Show a0001c0003t0004g0214 a0001c0003t0009g0215 a0001c0003t0009g0217 a0001c0003t0009g0218 a0001c0004t0023g0213 a0001c0008t0063g0216	6	340	0.0177	8	c.253 others(23): Show c.253+388_253+395dupTTTTTTTT	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP83_chr12_94302698_94464867	94347050	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01069.hp1 others(65): Show HG00609.hp2 HG00621.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01255.hp1 HG01257.hp2 HG01433.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02976.hp2 HG03239.hp1 HG03486.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18942.hp1 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18966.hp2 NA18967.hp2 NA18973.hp1 NA18979.hp2 NA18985.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19010.hp2 NA19056.hp2 NA19075.hp1 NA19078.hp2 NA19082.hp2 NA19086.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0067 others(65): Show a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342	68	364	0.1868	8	c.134 others(29): Show c.1344-11394_1344-11387dupATATATAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94347068	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG01361.hp2 others(8): Show HG00099.hp2 HG01192.hp2 HG01361.hp2 HG01496.hp1 HG02015.hp1 HG02074.hp1 HG02145.hp1 HG02698.hp2 HG03688.hp2 NA18992.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0005 a0001c0001t0001 a0003c0005t0005	a0001c0001t0001g0027 a0001c0001t0001g0225 a0001c0001t0001g0226 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0003c0005t0005g0354 a0003c0005t0005g0355 a0003c0005t0005g0356 a0003c0005t0005g0357 a0003c0005t0005g0358 a0003c0005t0005g0359 a0003c0005t0005g0360	11	364	0.0302	8	c.134 others(29): Show c.1344-11405_1344-11404insGTATATAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94365460	G G	GATTGCAT others(1): Show GATTGCATC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show HG02056.hp2 NA18962.hp1 NA19072.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0031 others(1): Show a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0032	4	364	0.0110	8	c.134 others(27): Show c.1343+2333_1343+2334insGATGCAAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94376690	T T	TATACACA others(1): Show TATACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01099.hp2 others(27): Show HG00140.hp2 HG00639.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01891.hp1 HG02004.hp1 HG02129.hp2 HG02300.hp2 HG02630.hp2 HG02809.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03669.hp1 HG04228.hp1 NA18942.hp1 NA18953.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18994.hp2 NA18995.hp2 NA19030.hp2 NA19058.hp1 NA19082.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0131 others(27): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0347 a0001c0001t0003g0349 a0001c0001t0003g0353 a0001c0001t0003g0361	30	364	0.0824	8	c.802 others(23): Show c.802-674_802-673insGTGTGTAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	7/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94423457	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00639.hp1 others(32): Show HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01106.hp1 HG01192.hp1 HG01891.hp1 HG02004.hp2 HG02145.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp2 HG03239.hp2 HG03492.hp1 HG03688.hp2 NA18964.hp2 NA18965.hp1 NA18994.hp1 NA19004.hp2 NA19030.hp2 NA19056.hp1 NA19064.hp2 NA19076.hp1 NA19076.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0003t0002 a0003c0005t0005	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(32): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0361 a0001c0001t0013g0326 a0001c0003t0002g0113 a0001c0003t0002g0114 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0126 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0130 a0001c0003t0002g0236 a0001c0003t0002g0237 a0003c0005t0005g0359	35	364	0.0962	8	c.-10 others(29): Show c.-101-10874_-101-10867dupAAAAAAAA	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	2/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118491196	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01934.hp2 HG02273.hp1 others(4): Show HG00597.hp2 HG01934.hp2 HG02273.hp1 NA18941.hp1 NA18945.hp1 NA18980.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0083 a0001c0001t0004g0085 others(4): Show a0001c0001t0004g0072 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0089 a0001c0001t0004g0097 a0001c0001t0004g0100 a0001c0001t0004g0101	7	302	0.0232	8	c.143 others(25): Show c.1437+482_1437+489dupGTGTGTGT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	6/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519432	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01952.hp1 others(15): Show HG00323.hp2 HG00735.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02132.hp2 HG02135.hp1 HG02615.hp2 HG02683.hp1 HG02735.hp2 HG03209.hp2 HG03516.hp1 NA18941.hp1 NA18955.hp1 NA18964.hp1 NA19005.hp2 NA19086.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0007c0007t0013	a0001c0001t0001g0061 a0001c0001t0001g0118 a0001c0001t0001g0127 others(15): Show a0001c0001t0001g0061 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0096 a0002c0002t0002g0189 a0002c0002t0002g0257 a0007c0007t0013g0181	18	302	0.0596	8	c.113 others(27): Show c.1139+4362_1139+4369dupCACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519474	G G	GTGTGTGG others(1): Show GTGTGTGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18968.hp2 NA18992.hp2 others(3): Show HG02145.hp2 NA18968.hp2 NA18992.hp2 NA18999.hp1 NA19084.hp1 NA19086.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0002c0002t0002 a0006c0006t0009 a0001c0001t0001 a0002c0002t0002 a0006c0006t0009	a0001c0001t0001g0145 a0002c0002t0002g0194 a0002c0002t0002g0211 others(3): Show a0001c0001t0001g0145 a0002c0002t0002g0194 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0222 a0006c0006t0009g0292	6	302	0.0199	8	c.113 others(27): Show c.1139+4327_1139+4328insGCCACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519539	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01975.hp2 HG01978.hp2 HG00735.hp1 HG01975.hp2 HG01978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0013 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0013	3	302	0.0099	8	c.113 others(27): Show c.1139+4255_1139+4262dupACACACAC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118558626	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01109.hp1 others(12): Show HG00597.hp1 HG00621.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01433.hp1 HG01884.hp1 HG02735.hp1 HG02965.hp1 HG03195.hp2 HG03491.hp1 HG03688.hp1 HG03688.hp2 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0026 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0026 a0002c0002t0029	a0002c0002t0002g0188 a0002c0002t0002g0195 a0002c0002t0002g0197 others(12): Show a0002c0002t0002g0188 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0209 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0240 a0002c0002t0002g0243 a0002c0002t0002g0249 a0002c0002t0002g0290 a0002c0002t0005g0261 a0002c0002t0005g0262 a0002c0002t0005g0265 a0002c0002t0026g0185 a0002c0002t0029g0210	15	302	0.0497	8	c.102 others(27): Show c.1020+6895_1020+6902dupGTGTGTGT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600370	T T	TGTGTGTG others(1): Show TGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02976.hp2 HG03942.hp1 others(1): Show HG01123.hp1 HG02976.hp2 HG03942.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0184 a0002c0002t0002g0242 a0002c0002t0005g0266 others(1): Show a0002c0002t0002g0184 a0002c0002t0002g0242 a0002c0002t0005g0266 a0002c0002t0005g0283	4	302	0.0133	8	c.232 others(27): Show c.232+32082_232+32083insCCACACAC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118604922	G G	GGCATTAA others(1): Show GGCATTAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp2 others(98): Show HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG02027.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19012.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0003c0003 a0002c0002 a0002c0012 a0003c0003	a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 others(10): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0012t0005 a0003c0003t0002	a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(98): Show a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0249 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0290 a0002c0002t0005g0261 a0002c0002t0005g0262 a0002c0002t0005g0264 a0002c0002t0005g0265 a0002c0002t0005g0266 a0002c0002t0005g0267 a0002c0002t0005g0268 a0002c0002t0005g0269 a0002c0002t0005g0270 a0002c0002t0005g0271 a0002c0002t0005g0277 a0002c0002t0005g0283 a0002c0002t0005g0284 a0002c0002t0005g0285 a0002c0002t0014g0275 a0002c0002t0014g0276 a0002c0002t0024g0272 a0002c0002t0025g0282 a0002c0002t0026g0185 a0002c0002t0027g0186 a0002c0002t0028g0293 a0002c0002t0029g0210 a0002c0002t0030g0182 a0002c0002t0031g0302 a0002c0012t0005g0263 a0003c0003t0002g0219 a0003c0003t0002g0223 a0003c0003t0002g0232	101	302	0.3344	8	c.232 others(27): Show c.232+27523_232+27530dupTTTAATGC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118613757	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02027.hp1 HG02280.hp2 others(9): Show HG00323.hp1 HG02027.hp1 HG02280.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02922.hp2 HG02965.hp1 HG03209.hp1 HG03927.hp2 HG03942.hp2 NA19012.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0006c0006	a0001c0001t0001 a0001c0001t0018 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0018 a0002c0002t0002 a0002c0002t0026 a0002c0002t0027 a0004c0004t0006 a0006c0006t0009	a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0018g0150 others(9): Show a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0018g0150 a0002c0002t0002g0173 a0002c0002t0002g0201 a0002c0002t0002g0225 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0026g0185 a0002c0002t0027g0186 a0004c0004t0006g0043 a0006c0006t0009g0246	12	302	0.0397	8	c.232 others(27): Show c.232+18688_232+18695dupTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118614849	T T	TAGACAGA others(1): Show TAGACAGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp2 others(37): Show HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00621.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01934.hp1 HG02027.hp2 HG02129.hp1 HG02135.hp2 HG02486.hp1 HG02683.hp2 HG02698.hp2 HG03195.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18992.hp1 NA19003.hp1 NA19005.hp1 NA19012.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19086.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0003c0003 a0002c0002 a0002c0012 a0003c0003	a0002c0002t0002 a0002c0002t0005 a0002c0002t0024 others(3): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0024 a0002c0002t0029 a0002c0012t0005 a0003c0003t0002	a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0179 others(37): Show a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0179 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0220 a0002c0002t0002g0224 a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0005g0262 a0002c0002t0005g0265 a0002c0002t0005g0266 a0002c0002t0005g0267 a0002c0002t0005g0268 a0002c0002t0005g0269 a0002c0002t0024g0272 a0002c0002t0029g0210 a0002c0012t0005g0263 a0003c0003t0002g0219 a0003c0003t0002g0223 a0003c0003t0002g0232	40	302	0.1325	8	c.232 others(27): Show c.232+17596_232+17603dupGTCTGTCT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118614865	C C	CAGATAGA others(1): Show CAGATAGAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01516.hp1 HG01517.hp2 others(5): Show HG00621.hp1 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG03490.hp2 HG04115.hp1 NA19086.hp2 NA19091.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0003c0003t0003 a0004c0004t0006 others(1): Show a0001c0001t0001 a0003c0003t0003 a0004c0004t0006 a0005c0005t0015	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0134 others(5): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0151 a0001c0001t0001g0153 a0003c0003t0003g0001 a0004c0004t0006g0044 a0005c0005t0015g0300	8	302	0.0265	8	c.232 others(27): Show c.232+17580_232+17587dupATCTATCT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26238202	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG00642.hp1 others(30): Show HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01074.hp1 HG01255.hp2 HG02056.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG03195.hp1 HG03486.hp2 HG03516.hp1 HG03942.hp1 HG04199.hp2 NA18906.hp2 NA18944.hp2 NA18965.hp1 NA18966.hp2 NA18972.hp1 NA19009.hp1 NA19043.hp1 NA19057.hp1 NA19062.hp1 NA19067.hp1 NA19077.hp2 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0003c0005 a0004c0004 a0004c0010 a0004c0011 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0002c0002t0001 a0003c0003t0004 a0003c0005t0004 a0004c0004t0003 a0004c0004t0008 a0004c0010t0003 a0004c0011t0008 a0005c0006t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 others(30): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0003g0097 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0012g0168 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0003c0003t0004g0316 a0003c0005t0004g0297 a0004c0004t0003g0292 a0004c0004t0003g0295 a0004c0004t0003g0296 a0004c0004t0008g0293 a0004c0004t0008g0294 a0004c0010t0003g0290 a0004c0011t0008g0291 a0005c0006t0001g0278	33	342	0.0965	8	c.-22 others(25): Show c.-22-1551_-22-1544dupTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02622.hp1 others(4): Show HG01891.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG03139.hp2 HG03579.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0010 a0001c0001 a0004c0004 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0004c0004t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0004c0004t0003 a0004c0010t0003	a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0117 others(4): Show a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0117 a0001c0001t0003g0138 a0001c0001t0003g0139 a0004c0004t0003g0296 a0004c0010t0003g0290	7	342	0.0205	8	c.208 others(25): Show c.208+4419_208+4426dupTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26273900	C C	CTAAATAA others(1): Show CTAAATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00621.hp2 others(42): Show HG00140.hp1 HG00609.hp2 HG00621.hp2 HG01123.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG01981.hp2 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02895.hp2 HG03834.hp1 HG04204.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18960.hp2 NA18962.hp1 NA18973.hp2 NA18979.hp1 NA18991.hp2 NA19002.hp1 NA19011.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19088.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0010 a0005c0006t0001	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(41): Show a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0284 a0002c0002t0001g0004 a0002c0002t0001g0224 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0234 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0267 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0275 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0007g0004 a0002c0002t0007g0238 a0002c0002t0007g0280 a0002c0002t0010g0283 a0005c0006t0001g0260	45	342	0.1316	8	c.179 others(27): Show c.1795-1064_1795-1063insTAAATAAA	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	11/13			chr1	TogoVar
CEP85_chr1_26229200_26283808	26273901	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00639.hp2 others(54): Show HG00323.hp2 HG00544.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01952.hp1 HG02056.hp2 HG02071.hp2 HG02293.hp2 HG02572.hp2 HG02602.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18965.hp1 NA18966.hp2 NA18972.hp1 NA18977.hp1 NA18986.hp1 NA18995.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19067.hp1 NA19076.hp1 NA19077.hp2 NA19091.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0009 others(1): Show a0001 a0007 a0009 a0011	a0001c0001 a0001c0009 a0007c0021 others(2): Show a0001c0001 a0001c0009 a0007c0021 a0009c0017 a0011c0019	a0001c0001t0003 a0001c0009t0003 a0007c0021t0003 others(2): Show a0001c0001t0003 a0001c0009t0003 a0007c0021t0003 a0009c0017t0003 a0011c0019t0003	a0001c0001t0003g0003 a0001c0001t0003g0099 a0001c0001t0003g0100 others(52): Show a0001c0001t0003g0003 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0009t0003g0108 a0001c0009t0003g0111 a0007c0021t0003g0123 a0009c0017t0003g0163 a0011c0019t0003g0130	57	342	0.1667	8	c.179 others(27): Show c.1795-1039_1795-1032dupTAAATAAA	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP89_chr19_32870925_32976958	32902004	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG04115.hp2 NA18982.hp2 others(4): Show HG00408.hp2 HG04115.hp2 NA18982.hp2 NA18991.hp2 NA19009.hp2 NA19084.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0031 a0001c0004t0001 a0001c0002t0001 a0001c0002t0031 a0001c0004t0001	a0001c0002t0001g0036 a0001c0002t0001g0063 a0001c0002t0031g0054 others(4): Show a0001c0002t0001g0036 a0001c0002t0001g0063 a0001c0002t0031g0054 a0001c0004t0001g0174 a0001c0004t0001g0179 a0001c0004t0001g0183 a0001c0004t0001g0193	7	386	0.0181	8	c.156 others(25): Show c.1566-593_1566-592insCACACACA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32902010	C C	CTCTCTCT others(1): Show CTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01361.hp1 HG01516.hp1 others(14): Show HG00609.hp1 HG01361.hp1 HG01516.hp1 HG02027.hp1 HG02083.hp2 HG02129.hp1 HG02698.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 NA18949.hp1 NA18961.hp1 NA18967.hp2 NA19000.hp1 NA19074.hp2 NA20905.hp2 NA21309.hp1	a0005 a0017 a0005 a0017	a0005c0006 a0017c0024 a0005c0006 a0017c0024	a0005c0006t0007 a0005c0006t0009 a0005c0006t0035 others(1): Show a0005c0006t0007 a0005c0006t0009 a0005c0006t0035 a0017c0024t0007	a0005c0006t0007g0086 a0005c0006t0007g0128 a0005c0006t0007g0129 others(14): Show a0005c0006t0007g0086 a0005c0006t0007g0128 a0005c0006t0007g0129 a0005c0006t0007g0132 a0005c0006t0007g0133 a0005c0006t0007g0134 a0005c0006t0007g0135 a0005c0006t0007g0147 a0005c0006t0007g0274 a0005c0006t0009g0136 a0005c0006t0009g0137 a0005c0006t0009g0138 a0005c0006t0009g0139 a0005c0006t0009g0141 a0005c0006t0009g0142 a0005c0006t0035g0127 a0017c0024t0007g0130	17	386	0.0440	8	c.156 others(25): Show c.1566-599_1566-598insCAGAGAGA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32902010	C C	CTCTGTGT others(1): Show CTCTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01496.hp1 HG02055.hp2 others(9): Show HG00140.hp1 HG01496.hp1 HG02055.hp2 HG02135.hp1 HG02717.hp1 HG02886.hp1 HG03041.hp2 HG03453.hp2 NA18612.hp2 NA18995.hp1 NA19043.hp1 NA19085.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0007	a0002c0001 a0003c0003 a0006c0008 others(1): Show a0002c0001 a0003c0003 a0006c0008 a0007c0009	a0002c0001t0002 a0002c0001t0008 a0003c0003t0010 others(2): Show a0002c0001t0002 a0002c0001t0008 a0003c0003t0010 a0006c0008t0006 a0007c0009t0011	a0002c0001t0002g0073 a0002c0001t0002g0155 a0002c0001t0002g0158 others(9): Show a0002c0001t0002g0073 a0002c0001t0002g0155 a0002c0001t0002g0158 a0002c0001t0002g0360 a0002c0001t0002g0361 a0002c0001t0008g0012 a0002c0001t0008g0014 a0003c0003t0010g0218 a0006c0008t0006g0096 a0007c0009t0011g0123 a0007c0009t0011g0124 a0007c0009t0011g0125	12	386	0.0311	8	c.156 others(25): Show c.1566-599_1566-598insCACACAGA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32927113	C C	CACCCACC others(1): Show CACCCACCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp1 HG01361.hp1 others(32): Show HG00609.hp1 HG01106.hp1 HG01361.hp1 HG01516.hp1 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG03139.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03942.hp2 NA18906.hp1 NA18949.hp1 NA18960.hp1 NA18961.hp1 NA18967.hp2 NA19000.hp1 NA19030.hp1 NA19074.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0017	a0003c0010 a0005c0006 a0006c0008 others(1): Show a0003c0010 a0005c0006 a0006c0008 a0017c0024	a0003c0010t0016 a0005c0006t0007 a0005c0006t0009 others(4): Show a0003c0010t0016 a0005c0006t0007 a0005c0006t0009 a0005c0006t0030 a0005c0006t0035 a0006c0008t0006 a0017c0024t0007	a0003c0010t0016g0168 a0003c0010t0016g0366 a0005c0006t0007g0086 others(32): Show a0003c0010t0016g0168 a0003c0010t0016g0366 a0005c0006t0007g0086 a0005c0006t0007g0128 a0005c0006t0007g0129 a0005c0006t0007g0131 a0005c0006t0007g0132 a0005c0006t0007g0133 a0005c0006t0007g0134 a0005c0006t0007g0135 a0005c0006t0007g0147 a0005c0006t0007g0274 a0005c0006t0009g0136 a0005c0006t0009g0137 a0005c0006t0009g0138 a0005c0006t0009g0139 a0005c0006t0009g0141 a0005c0006t0009g0142 a0005c0006t0009g0146 a0005c0006t0009g0270 a0005c0006t0030g0140 a0005c0006t0035g0127 a0006c0008t0006g0087 a0006c0008t0006g0088 a0006c0008t0006g0089 a0006c0008t0006g0090 a0006c0008t0006g0091 a0006c0008t0006g0092 a0006c0008t0006g0093 a0006c0008t0006g0094 a0006c0008t0006g0095 a0006c0008t0006g0096 a0006c0008t0006g0210 a0006c0008t0006g0308 a0017c0024t0007g0130	35	386	0.0907	8	c.103 others(25): Show c.1030-137_1030-130dupAGGTGGGT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	9/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32944220	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp1 HG01361.hp1 others(18): Show HG00609.hp1 HG01106.hp1 HG01361.hp1 HG01516.hp1 HG02027.hp1 HG02083.hp2 HG02129.hp1 HG02622.hp2 HG02698.hp2 HG02886.hp2 HG03239.hp1 HG03831.hp1 NA18949.hp1 NA18960.hp1 NA18961.hp1 NA18967.hp2 NA18995.hp2 NA19043.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0004 a0003c0010 a0005c0006 a0001c0004 a0003c0010 a0005c0006	a0001c0004t0001 a0003c0010t0016 a0005c0006t0007 others(5): Show a0001c0004t0001 a0003c0010t0016 a0005c0006t0007 a0005c0006t0009 a0005c0006t0011 a0005c0006t0029 a0005c0006t0030 a0005c0006t0035	a0001c0004t0001g0186 a0003c0010t0016g0168 a0003c0010t0016g0366 others(18): Show a0001c0004t0001g0186 a0003c0010t0016g0168 a0003c0010t0016g0366 a0005c0006t0007g0086 a0005c0006t0007g0131 a0005c0006t0007g0132 a0005c0006t0007g0133 a0005c0006t0007g0135 a0005c0006t0007g0147 a0005c0006t0007g0274 a0005c0006t0009g0136 a0005c0006t0009g0137 a0005c0006t0009g0138 a0005c0006t0009g0139 a0005c0006t0009g0141 a0005c0006t0009g0142 a0005c0006t0009g0270 a0005c0006t0011g0143 a0005c0006t0029g0144 a0005c0006t0030g0140 a0005c0006t0035g0127	21	386	0.0544	8	c.595 others(25): Show c.595+4038_595+4045dupTTTTTTTT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	5/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951532	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18954.hp1 NA19054.hp1 HG01978.hp1 NA18954.hp1 NA19054.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0074 a0001c0004t0001g0171 a0001c0004t0001g0199 a0001c0004t0001g0074 a0001c0004t0001g0171 a0001c0004t0001g0199	3	386	0.0078	8	c.492 others(25): Show c.492+2082_492+2083insGTGTGTGT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951534	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG01243.hp2 others(10): Show HG00738.hp2 HG01106.hp2 HG01243.hp2 HG02055.hp1 HG02145.hp2 HG02723.hp2 HG02965.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG04184.hp1 NA19030.hp1 NA19030.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0004 a0004c0005 a0006c0008 a0001c0004 a0004c0005 a0006c0008	a0001c0004t0001 a0004c0005t0005 a0004c0005t0015 others(1): Show a0001c0004t0001 a0004c0005t0005 a0004c0005t0015 a0006c0008t0006	a0001c0004t0001g0189 a0004c0005t0005g0101 a0004c0005t0005g0103 others(10): Show a0001c0004t0001g0189 a0004c0005t0005g0101 a0004c0005t0005g0103 a0004c0005t0005g0104 a0004c0005t0005g0115 a0004c0005t0005g0116 a0004c0005t0015g0107 a0006c0008t0006g0087 a0006c0008t0006g0088 a0006c0008t0006g0089 a0006c0008t0006g0091 a0006c0008t0006g0210 a0006c0008t0006g0308	13	386	0.0337	8	c.492 others(25): Show c.492+2073_492+2080dupGTGTGTGT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951534	T T	TATATACA others(1): Show TATATACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02129.hp1 NA18949.hp1 others(3): Show HG02056.hp1 HG02129.hp1 NA18949.hp1 NA18960.hp1 NA18961.hp1 NA18967.hp2	a0005 a0011 a0005 a0011	a0005c0006 a0011c0017 a0005c0006 a0011c0017	a0005c0006t0007 a0005c0006t0035 a0011c0017t0003 a0005c0006t0007 a0005c0006t0035 a0011c0017t0003	a0005c0006t0007g0086 a0005c0006t0007g0131 a0005c0006t0007g0133 others(3): Show a0005c0006t0007g0086 a0005c0006t0007g0131 a0005c0006t0007g0133 a0005c0006t0007g0274 a0005c0006t0035g0127 a0011c0017t0003g0267	6	386	0.0155	8	c.492 others(25): Show c.492+2080_492+2081insGTGTATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP95_chr17_64501977_64542946	64538581	A A	AAGATAGA others(1): Show AAGATAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02109.hp2 HG02486.hp1 others(9): Show HG01175.hp1 HG02109.hp2 HG02486.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 NA18906.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0032 others(7): Show a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059	12	248	0.0484	8	c.80 others(17): Show c.802_*803insAGATAGAT	CEP95	ENSG00000258890.8	transcript	ENST00000556440.7	protein_coding		636		chr17	TogoVar
CEP95_chr17_64501977_64542946	64540759	G G	GTATATAT others(1): Show GTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01106.hp2 HG02451.hp1 others(4): Show HG00673.hp1 HG01106.hp2 HG02451.hp1 HG02735.hp2 HG02896.hp1 HG02965.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0083 a0001c0001t0002g0005 a0001c0001t0002g0037 a0001c0001t0002g0143	7	248	0.0282	8	c.29 others(19): Show c.2980_*2981insTATATATA	CEP95	ENSG00000258890.8	transcript	ENST00000556440.7	protein_coding		2814		chr17	TogoVar
CER1_chr9_14714724_14727733	14719557	G G	GCCTTCCT others(1): Show GCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02647.hp1 others(2): Show HG01069.hp1 HG01071.hp1 HG02647.hp1 HG03041.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	460	0.0109	8	c.53 others(17): Show c.532_*533insAAGGAAGG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		166		chr9	TogoVar
CER1_chr9_14714724_14727733	14723164	T T	TCACACAC others(1): Show TCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02273.hp2 HG02922.hp2 others(3): Show HG00099.hp1 HG02273.hp2 HG02922.hp2 NA18970.hp1 NA18976.hp1 NA19001.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0002c0002t0001g0019 a0003c0003t0001g0040 a0001c0001t0001g0001 a0002c0002t0001g0019 a0003c0003t0001g0040	6	460	0.0130	8	c.-49 others(17): Show c.-493_-492insTGTGTGTG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		432		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437361	G G	GTATGTAT others(1): Show GTATGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02080.hp1 HG02135.hp1 others(5): Show HG00673.hp2 HG02080.hp1 HG02135.hp1 HG02280.hp2 HG03942.hp1 NA18971.hp1 NA18994.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0034 a0001c0002t0001g0043 others(4): Show a0001c0002t0001g0020 a0001c0002t0001g0034 a0001c0002t0001g0043 a0001c0002t0001g0055 a0001c0002t0001g0099 a0001c0002t0001g0168 a0001c0002t0001g0169	8	400	0.0200	8	c.51 others(17): Show c.513_*514insTATGTATA	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		15		chr9	TogoVar
CERKL_chr2_181531672_181662105	181572780	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG02486.hp2 others(4): Show HG01934.hp2 HG02055.hp1 HG02486.hp2 NA18989.hp2 NA18991.hp1 NA19043.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0002c0003t0023 a0002c0004t0004	a0001c0001t0001g0150 a0001c0002t0001g0063 a0001c0002t0005g0090 others(4): Show a0001c0001t0001g0150 a0001c0002t0001g0063 a0001c0002t0005g0090 a0002c0003t0023g0097 a0002c0004t0004g0151 a0002c0004t0004g0243 a0002c0004t0004g0260	7	298	0.0235	8	c.613 others(23): Show c.613+965_613+972dupAAAAAAAA	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	3/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00609.hp1 others(51): Show HG00099.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01175.hp2 HG01258.hp2 HG01358.hp1 HG01517.hp1 HG01934.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02630.hp2 HG02735.hp1 HG02897.hp2 HG03098.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18941.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp1 NA19085.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0012 a0002c0003t0004 a0002c0003t0009 a0002c0004t0002 a0009c0016t0002	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0236 others(51): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0236 a0001c0001t0001g0278 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0215 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0238 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0003g0149 a0001c0001t0003g0173 a0001c0001t0003g0224 a0001c0001t0003g0235 a0001c0001t0003g0251 a0001c0001t0003g0269 a0001c0001t0012g0273 a0001c0001t0017g0165 a0001c0002t0001g0092 a0001c0002t0002g0021 a0001c0002t0002g0066 a0001c0002t0006g0122 a0001c0002t0012g0123 a0002c0003t0004g0111 a0002c0003t0009g0110 a0002c0004t0002g0259 a0009c0016t0002g0133	54	298	0.1812	8	c.239 others(25): Show c.239-5462_239-5455dupTTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181650079	A A	AAGGGAGG others(1): Show AAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01358.hp2 HG02647.hp1 others(3): Show HG01168.hp1 HG01358.hp2 HG02647.hp1 HG03834.hp2 HG04204.hp1 NA19070.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0012 a0001c0002 a0008c0012	a0001c0002t0002 a0001c0002t0003 a0001c0002t0025 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0025 a0008c0012t0001	a0001c0002t0002g0018 a0001c0002t0003g0002 a0001c0002t0003g0020 others(2): Show a0001c0002t0002g0018 a0001c0002t0003g0002 a0001c0002t0003g0020 a0001c0002t0025g0019 a0008c0012t0001g0009	6	298	0.0201	8	c.238 others(25): Show c.238+6682_238+6689dupCCCTCCCT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181650103	G G	GAGGAAGG others(1): Show GAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18983.hp2 NA19085.hp2 NA18964.hp2 NA18983.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0278 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0001g0278 a0001c0001t0002g0276 a0001c0001t0002g0277	3	298	0.0101	8	c.238 others(25): Show c.238+6665_238+6666insTCCTTCCT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181650111	G G	GAGGAAGG others(1): Show GAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp2 NA19030.hp1 NA18970.hp1 NA18970.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0002c0004t0003 a0001c0001t0002 a0001c0001t0003 a0002c0004t0003	a0001c0001t0002g0255 a0001c0001t0003g0256 a0002c0004t0003g0293 a0001c0001t0002g0255 a0001c0001t0003g0256 a0002c0004t0003g0293	3	298	0.0101	8	c.238 others(25): Show c.238+6650_238+6657dupTCCTTCCT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERK_chr22_46679410_46743252	46680615	C C	CATCCACC others(1): Show CATCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02055.hp1 HG02145.hp2 others(3): Show HG00280.hp2 HG02055.hp1 HG02145.hp2 HG02280.hp1 HG02895.hp2 NA19043.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0001c0027 a0013c0023	a0001c0001t0040 a0001c0001t0056 a0001c0002t0031 others(3): Show a0001c0001t0040 a0001c0001t0056 a0001c0002t0031 a0001c0010t0048 a0001c0027t0031 a0013c0023t0062	a0001c0001t0040g0041 a0001c0001t0056g0268 a0001c0002t0031g0278 others(3): Show a0001c0001t0040g0041 a0001c0001t0056g0268 a0001c0002t0031g0278 a0001c0010t0048g0084 a0001c0027t0031g0187 a0013c0023t0062g0305	6	340	0.0177	8	c.65 others(19): Show c.6518_*6519insAGGTGGAT	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3794		chr22	TogoVar
CERK_chr22_46679410_46743252	46680631	C C	CATCCATC others(1): Show CATCCATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02055.hp1 HG02145.hp2 others(3): Show HG00280.hp2 HG02055.hp1 HG02145.hp2 HG02280.hp1 HG02895.hp2 NA19043.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0001c0027 a0013c0023	a0001c0001t0040 a0001c0001t0056 a0001c0002t0031 others(3): Show a0001c0001t0040 a0001c0001t0056 a0001c0002t0031 a0001c0010t0048 a0001c0027t0031 a0013c0023t0062	a0001c0001t0040g0041 a0001c0001t0056g0268 a0001c0002t0031g0278 others(3): Show a0001c0001t0040g0041 a0001c0001t0056g0268 a0001c0002t0031g0278 a0001c0010t0048g0084 a0001c0027t0031g0187 a0013c0023t0062g0305	6	340	0.0177	8	c.65 others(19): Show c.6502_*6503insTGATGGAT	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3778		chr22	TogoVar
CERK_chr22_46679410_46743252	46680805	C C	CCCATCCA others(1): Show CCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG01433.hp2 others(7): Show HG00609.hp1 HG00642.hp2 HG01433.hp2 HG01943.hp1 HG02559.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG03225.hp1 HG03710.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0003 a0001c0010 others(2): Show a0001c0001 a0001c0003 a0001c0010 a0001c0041 a0015c0034	a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 others(5): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 a0001c0001t0032 a0001c0003t0006 a0001c0010t0061 a0001c0041t0009 a0015c0034t0014	a0001c0001t0001g0079 a0001c0001t0014g0198 a0001c0001t0014g0290 others(6): Show a0001c0001t0001g0079 a0001c0001t0014g0198 a0001c0001t0014g0290 a0001c0001t0018g0302 a0001c0001t0032g0008 a0001c0003t0006g0263 a0001c0010t0061g0196 a0001c0041t0009g0323 a0015c0034t0014g0199	10	340	0.0294	8	c.63 others(19): Show c.6328_*6329insATGGATGG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3604		chr22	TogoVar

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