Joint Open Genome and Omics Platform (JoGo)

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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
CFAP251_chr12_121913592_122008919	121966237	C C	CCCTTCCC others(13): Show CCCTTCCCTCCCCTCCCCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(27): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG02148.hp1 HG02451.hp1 HG02602.hp1 HG02683.hp2 HG03098.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG04204.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0001 a0001c0016t0001 a0001c0003t0001 a0001c0016t0001	a0001c0003t0001g0057 a0001c0003t0001g0087 a0001c0003t0001g0088 others(27): Show a0001c0003t0001g0057 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0319 a0001c0003t0001g0320 a0001c0003t0001g0321 a0001c0003t0001g0322 a0001c0003t0001g0323 a0001c0003t0001g0325 a0001c0016t0001g0098	30	354	0.0848	20	c.249 others(37): Show c.2493-701_2493-700insTCACCTTCCCTCCCCTCCCC	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121978393	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0066 a0004c0010t0001g0066	1	354	0.0028	20	c.300 others(39): Show c.3006+2717_3006+2736dupAAAAAAAAAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113451	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 NA18944.hp2 NA18974.hp1 others(5): Show HG01952.hp1 NA18944.hp2 NA18974.hp1 NA18977.hp2 NA18989.hp1 NA19058.hp2 NA19059.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0074	8	404	0.0198	20	c.-77 others(29): Show c.-773_-772insACTCCCTCTCTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		705		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32597352	T T	TATTGACT others(13): Show TATTGACTCATTCATCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01516.hp2 HG02300.hp1 others(13): Show HG01099.hp1 HG01516.hp2 HG02300.hp1 HG02451.hp1 HG02622.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG04184.hp1 HG04228.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 others(1): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0037	a0001c0001t0008g0078 a0001c0001t0008g0081 a0001c0001t0008g0082 others(12): Show a0001c0001t0008g0078 a0001c0001t0008g0081 a0001c0001t0008g0082 a0001c0001t0008g0187 a0001c0001t0008g0188 a0001c0001t0008g0196 a0001c0001t0010g0047 a0001c0001t0010g0191 a0001c0001t0010g0192 a0001c0001t0010g0193 a0001c0001t0010g0194 a0001c0001t0017g0079 a0001c0001t0017g0080 a0001c0001t0017g0083 a0001c0001t0037g0195	16	416	0.0385	20	c.45 others(31): Show c.4510_*4511insGAGAGGATGAATGAGTCAAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding		2001		chr21	TogoVar
CFAP298_chr21_32594354_32617377	32597352	T T	TGTTGACT others(13): Show TGTTGACTCATTCATCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00639.hp2 others(8): Show HG00140.hp2 HG00280.hp1 HG00639.hp2 HG01952.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02970.hp2 HG03139.hp2 HG03486.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0011 a0001c0001 a0001c0002 a0002c0011	a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 others(4): Show a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0039 a0001c0002t0022 a0001c0002t0040 a0002c0011t0014	a0001c0001t0014g0105 a0001c0001t0014g0181 a0001c0001t0014g0183 others(7): Show a0001c0001t0014g0105 a0001c0001t0014g0181 a0001c0001t0014g0183 a0001c0001t0021g0046 a0001c0001t0024g0182 a0001c0001t0039g0184 a0001c0002t0022g0216 a0001c0002t0022g0218 a0001c0002t0040g0217 a0002c0011t0014g0214	11	416	0.0264	20	c.45 others(31): Show c.4510_*4511insGAGAGGATGAATGAGTCAAC	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding		2001		chr21	TogoVar
CFAP298_chr21_32594354_32617377	32598545	C C	CTTCTTCT others(13): Show CTTCTTCTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0195 a0001c0001t0037g0195	1	416	0.0024	20	c.33 others(31): Show c.3317_*3318insAAAAAAAAAAAAAAGAAGAA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding		808		chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611338	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0192 a0001c0001t0010g0192	1	416	0.0024	20	c.139 others(35): Show c.139+766_139+767insTTATATATATATATATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03017.hp1 NA19043.hp1 others(1): Show HG02486.hp1 HG03017.hp1 NA19043.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0003t0002g0036 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0003t0002g0036 a0001c0003t0002g0037	4	96	0.0417	20	c.242 others(37): Show c.242+1215_242+1234dupCACACACACACACACACACA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80581453	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02922.hp2 HG03195.hp2 others(4): Show HG00642.hp1 HG02922.hp2 HG03195.hp2 NA18906.hp2 NA18950.hp2 NA18964.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0001c0001t0001 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0025 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0044 a0002c0002t0001g0003 a0002c0005t0001g0070	7	96	0.0729	20	c.243 others(37): Show c.243-1623_243-1604dupATATATATATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80866059	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02040.hp2 HG00639.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0056 a0001c0001t0001g0062	2	96	0.0208	20	c.334 others(37): Show c.334-3916_334-3897dupATATATATATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80937312	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0094 a0001c0004t0001g0094	1	96	0.0104	20	c.477 others(37): Show c.477-7495_477-7476dupTTTTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP43_chr10_104124888_104237364	104157773	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	306	0.0033	20	c.354 others(39): Show c.3540+3263_3540+3264insTCTCTCTCTCTCTCTCTCTC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	306	0.0033	20	c.354 others(39): Show c.3540+3242_3540+3261dupTCTCTCTCTCTCTCTCTCTC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGTGTGAG others(13): Show TGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG03579.hp2 HG02280.hp2 HG02559.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0258 a0001c0001t0001g0274 a0001c0001t0001g0063 a0001c0001t0001g0258 a0001c0001t0001g0274	3	306	0.0098	20	c.354 others(39): Show c.3540+3261_3540+3262insTCTCTCTCTCTCTCTCACAC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP44_chr3_113281930_113446493	113418057	A A	AATTTATT others(13): Show AATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18993.hp2 NA19012.hp1 others(2): Show NA18980.hp2 NA18993.hp2 NA19012.hp1 NA19066.hp2 NA19067.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0002 a0005c0005t0046 a0002c0002t0002 a0005c0005t0046	a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 others(2): Show a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0099 a0005c0005t0046g0019	5	348	0.0144	20	c.571 others(37): Show c.571-1450_571-1431dupAAATAAATAAATAAATAAAT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	5/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113433429	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0036 a0002c0002t0050g0036	1	348	0.0029	20	c.100 others(35): Show c.100+116_100+135dupTTTTTTTTTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	2/34			chr3	TogoVar
CFAP45_chr1_159867364_159905165	159877875	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0069 a0007c0010t0001g0069	1	410	0.0024	20	c.104 others(37): Show c.1045-433_1045-414dupATTTATTTATTTATTTATTT	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	8/11			chr1	TogoVar
CFAP45_chr1_159867364_159905165	159878753	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00642.hp1 others(26): Show HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01258.hp2 HG01433.hp2 HG01928.hp2 HG01975.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02300.hp2 HG03017.hp2 NA18943.hp2 NA18949.hp1 NA18953.hp2 NA18961.hp2 NA18963.hp2 NA18970.hp2 NA18985.hp1 NA18997.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp2 NA19057.hp1 NA19064.hp1 NA19084.hp1 NA19084.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0001g0124 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0249	29	410	0.0707	20	c.104 others(39): Show c.1045-1311_1045-1292dupTTTTTTTTTTTTTTTTTTTT	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	8/11			chr1	TogoVar
CFAP45_chr1_159867364_159905165	159878775	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	410	0.0024	20	c.104 others(39): Show c.1045-1314_1045-1313insGTTTTTTTTTTTTTTTTTTT	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	8/11			chr1	TogoVar
CFAP46_chr10_132803392_132947570	132831220	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18960.hp2 HG00733.hp2 NA18960.hp2	a0013 a0031 a0013 a0031	a0013c0013 a0031c0107 a0013c0013 a0031c0107	a0013c0013t0001 a0031c0107t0002 a0013c0013t0001 a0031c0107t0002	a0013c0013t0001g0202 a0031c0107t0002g0022 a0013c0013t0001g0202 a0031c0107t0002g0022	2	246	0.0081	20	c.711 others(39): Show c.7117+2118_7117+2137dupCACACACACACACACACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887836	C C	CTCTCTCC others(13): Show CTCTCTCCTCTCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0024 a0024	a0024c0017 a0024c0017	a0024c0017t0001 a0024c0017t0001	a0024c0017t0001g0146 a0024c0017t0001g0146	1	246	0.0041	20	c.330 others(39): Show c.3305-1897_3305-1878dupAGGGGAGAGGAGAGGAGAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923944	C C	CATATATG others(13): Show CATATATGTACACACATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG03516.hp1 HG02615.hp2 HG02970.hp2 HG03516.hp1	a0005 a0009 a0005 a0009	a0005c0015 a0009c0007 a0005c0015 a0009c0007	a0005c0015t0001 a0009c0007t0001 a0005c0015t0001 a0009c0007t0001	a0005c0015t0001g0199 a0009c0007t0001g0197 a0009c0007t0001g0198 a0005c0015t0001g0199 a0009c0007t0001g0197 a0009c0007t0001g0198	3	216	0.0139	20	c.250 others(37): Show c.250-2071_250-2070insATATGTACACACATATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35965197	C C	CAATAAAG others(13): Show CAATAAAGTCTCTACTCAGTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	216	0.0046	20	c.141 others(39): Show c.1411-1364_1411-1345dupAAAGTCTCTACTCAGTTAAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36248496	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0038 a0038	a0038c0072 a0038c0072	a0038c0072t0001 a0038c0072t0001	a0038c0072t0001g0136 a0038c0072t0001g0136	1	216	0.0046	20	c.733 others(39): Show c.7333-2828_7333-2809dupCACACACACACACACACACA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	48/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(13): Show AAGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	316	0.0032	20	c.117 others(39): Show c.1175-1857_1175-1856insAAGAGAGAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0286 a0002c0001t0001g0286	1	316	0.0032	20	c.117 others(39): Show c.1175-1852_1175-1833dupGAGAGAGAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631040	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0071 a0002c0001t0001g0071	1	316	0.0032	20	c.117 others(39): Show c.1175-1845_1175-1844insAAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631044	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03540.hp1 NA18522.hp1 HG02965.hp2 HG03540.hp1 NA18522.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0013 a0002c0001t0001g0017 a0002c0001t0001g0051 a0002c0001t0001g0013 a0002c0001t0001g0017 a0002c0001t0001g0051	3	316	0.0095	20	c.117 others(39): Show c.1175-1841_1175-1840insAAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631048	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0144 a0002c0001t0001g0144	1	316	0.0032	20	c.117 others(39): Show c.1175-1837_1175-1836insAAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19057.hp1 NA20905.hp2 HG00735.hp1 NA19057.hp1 NA20905.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0003 a0002c0001t0002 a0002c0001t0003	a0002c0001t0002g0058 a0002c0001t0002g0220 a0002c0001t0003g0107 a0002c0001t0002g0058 a0002c0001t0002g0220 a0002c0001t0003g0107	3	316	0.0095	20	c.117 others(39): Show c.1175-1824_1175-1805dupAAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(13): Show GAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG04199.hp1 NA18999.hp2 others(2): Show HG01192.hp1 HG04199.hp1 NA18999.hp2 NA19054.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0050 a0002c0001t0002g0136 a0002c0001t0002g0138 others(2): Show a0002c0001t0002g0050 a0002c0001t0002g0136 a0002c0001t0002g0138 a0002c0001t0002g0139 a0002c0001t0002g0216	5	316	0.0158	20	c.117 others(39): Show c.1175-1833_1175-1832insGAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03195.hp2 NA18959.hp1 HG02257.hp1 HG03195.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0197 a0001c0001t0001g0199 a0002c0002t0001g0072 a0001c0001t0001g0197 a0001c0001t0001g0199 a0002c0002t0001g0072	3	402	0.0075	20	c.131 others(39): Show c.1316+1273_1316+1274insATATATATATATATTTTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02155.hp1 NA18959.hp2 others(1): Show HG02080.hp1 HG02155.hp1 NA18959.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0099 a0001c0001t0001g0261 a0002c0002t0001g0143 others(1): Show a0001c0001t0001g0099 a0001c0001t0001g0261 a0002c0002t0001g0143 a0002c0002t0001g0144	4	402	0.0100	20	c.131 others(39): Show c.1316+1273_1316+1274insATATATATATATATATTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	402	0.0025	20	c.131 others(39): Show c.1316+1273_1316+1274insATATATATATATATATATTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96486129	C C	CTTTTCTC others(13): Show CTTTTCTCTTTTCTTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03139.hp2 HG03098.hp2 HG03139.hp2	a0016 a0048 a0016 a0048	a0016c0014 a0048c0037 a0016c0014 a0048c0037	a0016c0014t0001 a0048c0037t0001 a0016c0014t0001 a0048c0037t0001	a0016c0014t0001g0162 a0048c0037t0001g0163 a0016c0014t0001g0162 a0048c0037t0001g0163	2	268	0.0075	20	c.-34 others(31): Show c.-3481_-3480insTTTTCTCTTTTCTTTTCTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		3447		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96634046	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18949.hp1 NA19058.hp1 others(2): Show HG00423.hp2 NA18949.hp1 NA19058.hp1 NA19064.hp2 NA19090.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0197 a0008c0008t0001g0199 a0008c0008t0001g0200 others(2): Show a0008c0008t0001g0197 a0008c0008t0001g0199 a0008c0008t0001g0200 a0008c0008t0001g0201 a0008c0008t0001g0202	5	268	0.0187	20	c.431 others(39): Show c.4316+3403_4316+3422dupTTTTTTTTTTTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	32/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96654832	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0031 a0031	a0031c0053 a0031c0053	a0031c0053t0001 a0031c0053t0001	a0031c0053t0001g0022 a0031c0053t0001g0022	1	268	0.0037	20	c.510 others(39): Show c.5100+3033_5101-3033insTTTTTTTTTTTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96752085	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19077.hp2 HG02280.hp1 NA19077.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0025 a0006c0006t0001g0051 a0001c0001t0001g0025 a0006c0006t0001g0051	2	268	0.0075	20	c.768 others(39): Show c.7685-1629_7685-1610dupGAGAGAGAGAGAGAGAGAGA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	55/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP57_chr1_43167330_43259358	43180223	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp2 HG03486.hp1 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0016 a0002c0005t0001g0017 a0002c0005t0001g0016 a0002c0005t0001g0017	2	308	0.0065	20	c.158 others(37): Show c.158-1295_158-1294insTATATATATATATATATATA	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP57_chr1_43167330_43259358	43180238	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0016 a0016	a0016c0037 a0016c0037	a0016c0037t0001 a0016c0037t0001	a0016c0037t0001g0013 a0016c0037t0001g0013	1	308	0.0033	20	c.158 others(37): Show c.158-1295_158-1294insTATATATATATATATATAAA	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP58_chr10_104348833_104460102	104383753	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0114 a0001c0004t0001g0114	1	308	0.0033	20	c.136 others(39): Show c.1365+3544_1365+3563dupACACACACACACACACACAC	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP58_chr10_104348833_104460102	104453761	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	308	0.0033	20	c.251 others(37): Show c.2511-644_2511-625dupGTGTGTGTGTGTGTGTGTGT	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20106000	C C	CTATACAT others(13): Show CTATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01943.hp2 HG02683.hp1 HG01123.hp2 HG01943.hp2 HG02683.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0091 a0001c0001t0002g0180 a0002c0002t0001g0189 a0001c0001t0002g0091 a0001c0001t0002g0180 a0002c0002t0001g0189	3	236	0.0127	20	c.859 others(37): Show c.859+7190_859+7191insCATATATATATATATATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20117365	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19007.hp1 NA18964.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0183 a0001c0001t0002g0147 a0001c0001t0001g0183 a0001c0001t0002g0147	2	236	0.0085	20	c.859 others(39): Show c.859+18557_859+18576dupAATAAATAAATAAATAAATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20118253	G G	GTTCCTTT others(13): Show GTTCCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	236	0.0042	20	c.859 others(39): Show c.859+19441_859+19442insCCTTTCTTTCTTTCTTTCTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20118253	G G	GTTTCTTT others(13): Show GTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18943.hp2 HG04228.hp1 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0234 a0002c0002t0006g0013 a0002c0002t0001g0234 a0002c0002t0006g0013	2	236	0.0085	20	c.859 others(39): Show c.859+19475_859+19494dupCTTTCTTTCTTTCTTTCTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20253144	A A	ATTTTCTT others(13): Show ATTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0002 a0010c0020t0002	a0010c0020t0002g0123 a0010c0020t0002g0123	1	236	0.0042	20	c.232 others(39): Show c.2328+1385_2328+1404dupTCTTTTCTTTTCTTTTCTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337616	G G	GTGGATGG others(13): Show GTGGATGGATGGATGGATAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01934.hp1 HG01943.hp2 HG01261.hp2 HG01934.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0180 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0180	3	236	0.0127	20	c.342 others(39): Show c.3423-4212_3423-4211insATGGATGGATGGATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357473	C C	CTGAGGGA others(13): Show CTGAGGGAGGTGGTCACAGTG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	236	0.0042	20	c.351 others(39): Show c.3514-2731_3514-2730insAGGTGGTCACAGTGTGAGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP65_chr2_218997846_219046516	219004935	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03486.hp2 NA18522.hp1 HG02615.hp2 HG03486.hp2 NA18522.hp1	a0007 a0008 a0033 a0007 a0008 a0033	a0007c0006 a0008c0010 a0033c0023 a0007c0006 a0008c0010 a0033c0023	a0007c0006t0003 a0008c0010t0003 a0033c0023t0001 a0007c0006t0003 a0008c0010t0003 a0033c0023t0001	a0007c0006t0003g0040 a0008c0010t0003g0041 a0033c0023t0001g0184 a0007c0006t0003g0040 a0008c0010t0003g0041 a0033c0023t0001g0184	3	322	0.0093	20	c.505 others(37): Show c.5051+479_5052-481dupGAAAGAAAGAAAGAAAGAAA	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	32/34			chr2	TogoVar

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