Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
CELF1_chr11_47460937_47558132	47557670	TGGTGGTC others(14): Show TGGTGGTCCCCCACTCTCTGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	340	0.0029	-21	c.-48 others(32): Show c.-4853_-4833delTCCAGAGAGTGGGGGACCACC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4539		chr11	TogoVar
CELF2_chr10_11012872_11341675	11301496	CCCCCACC others(14): Show CCCCCACCCCGCTCCCACAGCA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0041 a0001c0001t0017g0041	1	194	0.0052	-21	c.977 others(40): Show c.977-12638_977-12618delACCCCGCTCCCACAGCACCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3299509	CTCCTCCT others(14): Show CTCCTCCTCTTCTTCTTCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 NA20805.hp1 HG00733.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0128 a0001c0003t0004g0220 a0001c0003t0004g0128 a0001c0003t0004g0220	2	262	0.0076	-21	c.27 others(32): Show c.2793_*2813delTCCTCCTCTTCTTCTTCTTCT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2434		chr19	TogoVar
CELF6_chr15_72279727_72325157	72323658	GTCATTTG others(14): Show GTCATTTGGGGCATAAACATTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	300	0.0033	-21	c.-38 others(32): Show c.-3805_-3785delTAATGTTTATGCCCCAAATGA	CELF6	ENSG00000140488.16	transcript	ENST00000287202.10	protein_coding		3502		chr15	TogoVar
CELF6_chr15_72279727_72325157	72325128	TTTTCTTT others(14): Show TTTTCTTTCTTTCTTTCTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	300	0.0033	-21	c.-52 others(32): Show c.-5275_-5255delGAAAAGAAAGAAAGAAAGAAA	CELF6	ENSG00000140488.16	transcript	ENST00000287202.10	protein_coding		4972		chr15	TogoVar
CEMIP_chr15_80774370_80956771	80848953	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01168.hp2 HG01975.hp2 others(14): Show HG00558.hp1 HG01168.hp2 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02129.hp1 HG02451.hp1 HG02559.hp2 HG02886.hp2 HG02976.hp1 HG03669.hp1 HG03927.hp1 NA18747.hp2 NA18951.hp1 NA18954.hp1 NA18969.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0013 a0004c0016	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0006t0001 a0001c0007t0003 a0001c0013t0001 a0004c0016t0001	a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0045 others(14): Show a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0125 a0001c0001t0001g0175 a0001c0001t0006g0104 a0001c0002t0001g0017 a0001c0002t0001g0030 a0001c0006t0001g0231 a0001c0007t0003g0132 a0001c0013t0001g0232 a0004c0016t0001g0023	17	254	0.0669	-21	c.-17 others(42): Show c.-175-24553_-175-24533delTTTTTTTTTTTTTTTTTTTTT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPO_chr2_24788425_24827376	24799040	ATGGCACT others(14): Show ATGGCACTCCAATGGAGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(138): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02897.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0009	a0001c0001 a0005c0009 a0008c0006 others(1): Show a0001c0001 a0005c0009 a0008c0006 a0009c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0005c0009t0001 a0008c0006t0001 a0009c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0004 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0035 a0001c0001t0005g0163 a0001c0001t0005g0166 a0001c0001t0005g0172 a0001c0001t0005g0175 a0001c0001t0005g0189 a0001c0001t0005g0198 a0001c0001t0005g0204 a0001c0001t0005g0210 a0001c0001t0005g0212 a0001c0001t0005g0216 a0001c0001t0021g0190 a0001c0001t0021g0192 a0001c0001t0028g0213 a0001c0001t0029g0029 a0001c0001t0030g0002 a0001c0001t0032g0004 a0001c0001t0034g0215 a0001c0001t0035g0164 a0001c0001t0036g0169 a0001c0001t0038g0176 a0005c0009t0001g0196 a0008c0006t0001g0160 a0009c0004t0001g0155	141	382	0.3691	-21	c.47- others(34): Show c.47-632_47-612delGCACTCCAATGGAGTGCAGTG	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CENPP_chr9_92320953_92625529	92449437	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	260	0.0039	-21	c.564 others(40): Show c.564+69599_564+69619delAAAAAAAAAAAAAAAAAAAAA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92552164	ATATGTGA others(14): Show ATATGTGATATGATAGATCTAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	260	0.0039	-21	c.565 others(40): Show c.565-59149_565-59129delTATGTGATATGATAGATCTAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7			chr9	TogoVar
CENPP_chr9_92320953_92625529	92555003	TTTGTTGT others(14): Show TTTGTTGTTGTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0134 a0001c0001t0045g0134	1	260	0.0039	-21	c.565 others(40): Show c.565-56294_565-56274delTGTTGTTGTTGTTGTTGTTGT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPT_chr16_67823157_67852693	67842881	GCAGCAGC others(14): Show GCAGCAGCAGCAACAGCAGCAA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	266	0.0038	-21	c.-49 others(40): Show c.-492+4499_-492+4519delTTGCTGCTGTTGCTGCTGCTG	CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding	1/15			chr16	TogoVar
CENPT_chr16_67823157_67852693	67842902	ACAGCAGC others(14): Show ACAGCAGCAGCAGCAGCAACAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 NA19240.hp2 HG03041.hp1 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077	3	266	0.0113	-21	c.-49 others(40): Show c.-492+4478_-492+4498delCTGTTGCTGCTGCTGCTGCTG	CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding	1/15			chr16	TogoVar
CEP126_chr11_101910010_102006062	101911094	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 NA18972.hp2 NA18975.hp1 others(3): Show HG00280.hp2 NA18972.hp2 NA18975.hp1 NA18981.hp1 NA18991.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0042 a0001c0002t0001 a0001c0001t0001 a0001c0001t0042 a0001c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0042g0080 a0001c0002t0001g0168 a0001c0002t0001g0172	6	336	0.0179	-21	c.-41 others(32): Show c.-4190_-4170delTTTTTTTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3915		chr11	TogoVar
CEP128_chr14_80491479_80946738	80729055	GGGGGTGT others(14): Show GGGGGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	164	0.0061	-21	c.280 others(42): Show c.2806+13999_2806+14019delACACACACACACACACACCCC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80944822	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03540.hp2 HG02109.hp1 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0017 a0001c0008t0005g0018 a0001c0008t0005g0017 a0001c0008t0005g0018	2	164	0.0122	-21	c.-34 others(32): Show c.-3434_-3414delTTTTTTTTTTTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding		3085		chr14	TogoVar
CEP170B_chr14_104860268_104901747	104872144	CCGTGTGT others(14): Show CCGTGTGTGTGCGTGTGTGCCG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	328	0.0031	-21	c.105 others(38): Show c.105+3608_105+3628delCCGCGTGTGTGTGCGTGTGTG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP350_chr1_179949810_180119875	180011278	ACTCTTTG others(14): Show ACTCTTTGTTATATGTTTCCTC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show HG02723.hp1 HG02809.hp1 HG03453.hp2 HG03471.hp2 NA19030.hp2 NA19043.hp1	a0002 a0008 a0010 others(1): Show a0002 a0008 a0010 a0022	a0002c0020 a0008c0009 a0010c0029 others(1): Show a0002c0020 a0008c0009 a0010c0029 a0022c0028	a0002c0020t0019 a0008c0009t0008 a0010c0029t0010 others(1): Show a0002c0020t0019 a0008c0009t0008 a0010c0029t0010 a0022c0028t0010	a0002c0020t0019g0010 a0008c0009t0008g0007 a0008c0009t0008g0008 others(3): Show a0002c0020t0019g0010 a0008c0009t0008g0007 a0008c0009t0008g0008 a0008c0009t0008g0009 a0010c0029t0010g0011 a0022c0028t0010g0012	6	248	0.0242	-21	c.124 others(38): Show c.1247-649_1247-629delTCTTTGTTATATGTTTCCTCC	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP41_chr7_130388771_130446016	130437774	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0081 a0003c0004t0081	a0003c0004t0081g0296 a0003c0004t0081g0296	1	346	0.0029	-21	c.33+ others(36): Show c.33+3139_33+3159delCTTTTTCTTTTTTTTTTTTTT	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	1/10			chr7	TogoVar
CEP43_chr6_166994397_167057718	167019257	GCATACAC others(14): Show GCATACACCTGCTGTGCACACA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp2 others(21): Show HG00597.hp2 HG00609.hp1 HG00621.hp2 HG01361.hp1 HG02080.hp2 HG02145.hp2 HG02615.hp2 HG03486.hp2 HG03942.hp1 HG04204.hp1 NA18906.hp2 NA18948.hp1 NA18950.hp1 NA18963.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp2 NA18990.hp2 NA18993.hp1 NA19009.hp1 NA19056.hp1 NA19058.hp2 NA19072.hp2 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0020 a0002c0002t0015 a0002c0002t0035 others(15): Show a0001c0001t0020 a0002c0002t0015 a0002c0002t0035 a0002c0002t0036 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0002c0002t0099 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0103 a0006c0007t0090	a0001c0001t0020g0053 a0001c0001t0020g0062 a0002c0002t0015g0037 others(21): Show a0001c0001t0020g0053 a0001c0001t0020g0062 a0002c0002t0015g0037 a0002c0002t0015g0038 a0002c0002t0015g0039 a0002c0002t0015g0203 a0002c0002t0035g0200 a0002c0002t0035g0209 a0002c0002t0036g0037 a0002c0002t0036g0202 a0002c0002t0091g0039 a0002c0002t0092g0206 a0002c0002t0093g0201 a0002c0002t0094g0211 a0002c0002t0095g0207 a0002c0002t0096g0208 a0002c0002t0097g0204 a0002c0002t0098g0196 a0002c0002t0099g0197 a0002c0002t0100g0205 a0002c0002t0101g0210 a0002c0002t0102g0038 a0002c0002t0103g0199 a0006c0007t0090g0198	24	376	0.0638	-21	c.580 others(38): Show c.580-3131_580-3111delACATACACCTGCTGTGCACAC	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP43_chr6_166994397_167057718	167019278	ACATACAC others(14): Show ACATACACCTGCTGTGCACACG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0080 a0001c0001t0016g0080	1	376	0.0027	-21	c.580 others(38): Show c.580-3129_580-3109delATACACCTGCTGTGCACACGC	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109136697	GTATTTTT others(14): Show GTATTTTTATTTTATTTTATTT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03130.hp1 HG02818.hp2 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0082 a0002c0002t0084 a0002c0002t0082 a0002c0002t0084	a0002c0002t0082g0204 a0002c0002t0084g0011 a0002c0002t0082g0204 a0002c0002t0084g0011	2	228	0.0088	-21	c.-3- others(36): Show c.-3-8515_-3-8495delTATTTTATTTTATTTTATTTT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP83_chr12_94302698_94464867	94318113	AATTATCA others(14): Show AATTATCATTGTAGAGATCATT	A A	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	-21	c.170 others(40): Show c.1708-5117_1708-5097delAATGATCTCTACAATGATAAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118487490	AGAAATCC others(14): Show AGAAATCCAAAAATTAGTCAAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0259	1	302	0.0033	-21	c.143 others(40): Show c.1438-3653_1438-3633delCTTGACTAATTTTTGGATTTC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	6/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600301	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0192 a0002c0002t0002g0192	1	302	0.0033	-21	c.232 others(40): Show c.232+32131_232+32151delACACACACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP89_chr19_32870925_32976958	32947856	AATGGTGC others(14): Show AATGGTGCAATCATGGCTTGCT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0272 a0003c0003t0013g0272	1	386	0.0026	-21	c.595 others(36): Show c.595+389_595+409delAGCAAGCCATGATTGCACCAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	5/18			chr19	TogoVar
CEP97_chr3_101719614_101775562	101723413	AAATATAT others(14): Show AAATATATAACATATAACATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00544.hp1 others(107): Show HG00140.hp1 HG00423.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 HG01975.hp2 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 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG04115.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0012	a0001c0001 a0002c0003 a0004c0004 others(2): Show a0001c0001 a0002c0003 a0004c0004 a0005c0006 a0012c0017	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0002c0003t0002 a0004c0004t0002 a0005c0006t0002 a0012c0017t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 others(90): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0025 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 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0006g0020 a0001c0001t0006g0194 a0001c0001t0006g0201 a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0012g0300 a0001c0001t0012g0301 a0001c0001t0012g0302 a0001c0001t0027g0204 a0002c0003t0002g0209 a0002c0003t0002g0212 a0002c0003t0002g0214 a0004c0004t0002g0018 a0005c0006t0002g0007 a0012c0017t0002g0200	110	352	0.3125	-21	c.-12 others(32): Show c.-1263_-1243delAATATATAACATATAACATAT	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1200		chr3	TogoVar
CERKL_chr2_181531672_181662105	181606366	AGGGAGAG others(14): Show AGGGAGAGGAGGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG03710.hp1 others(2): Show HG01099.hp1 HG01167.hp2 HG03710.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0022	a0001c0001t0001g0249 a0001c0002t0001g0029 a0001c0002t0001g0046 others(2): Show a0001c0001t0001g0249 a0001c0002t0001g0029 a0001c0002t0001g0046 a0001c0002t0003g0027 a0001c0002t0022g0030	5	298	0.0168	-21	c.239 others(38): Show c.239-2308_239-2288delCTCCCCTCCCCCTCCTCTCCC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS6_chr2_168451272_168780134	168698236	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01978.hp2 HG02071.hp1 others(9): Show HG00738.hp1 HG01978.hp2 HG02071.hp1 HG02132.hp1 HG02132.hp2 NA18949.hp1 NA18955.hp2 NA18957.hp2 NA18968.hp2 NA18977.hp2 NA18984.hp2 NA18998.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0003c0007t0005	a0001c0001t0001g0058 a0001c0001t0001g0143 a0001c0001t0001g0147 others(9): Show a0001c0001t0001g0058 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0133 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0003g0095 a0001c0001t0005g0136 a0001c0001t0005g0146 a0003c0007t0005g0018	12	176	0.0682	-21	c.609 others(38): Show c.609+3208_609+3228delAAAAAAAAAAAAAAAAAGAAA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75405800	TACATATA others(14): Show TACATATAGGAAAAAACATAGC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	336	0.0030	-21	c.931 others(38): Show c.931-2763_931-2743delGCTATGTTTTTTCCTATATGT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	8/16			chr5	TogoVar
CFAP161_chr15_81129270_81154179	81142464	GTGTTCAC others(14): Show GTGTTCACCCCCTCTGGCTATC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	448	0.0022	-21	c.478 others(38): Show c.478-1197_478-1177delTGTTCACCCCCTCTGGCTATC	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	4/6			chr15	TogoVar
CFAP210_chr2_169640425_169699405	169642755	ACAGATCG others(14): Show ACAGATCGGTTTATTAAAAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03225.hp2 NA20129.hp2 HG03209.hp2 HG03225.hp2 NA20129.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0255 a0007c0009t0001g0256 a0007c0009t0001g0257 a0007c0009t0001g0255 a0007c0009t0001g0256 a0007c0009t0001g0257	3	390	0.0077	-21	c.30 others(32): Show c.3065_*3085delGCCTTTTAATAAACCGATCTG	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding		2669		chr2	TogoVar
CFAP410_chr21_44323944_44344390	44338913	CCCCGCCC others(14): Show CCCCGCCCCGGCTCCGCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	436	0.0023	-21	c.77+ others(34): Show c.77+184_77+204delAGAGGGCGGAGCCGGGGCGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44338935	CCCCGCCC others(14): Show CCCCGCCCCGGCTCCGCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0292 a0001c0002t0002g0292	1	436	0.0023	-21	c.77+ others(34): Show c.77+162_77+182delAGAGGGCGGAGCCGGGGCGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132820692	TGCTGATG others(14): Show TGCTGATGTGTGCTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(66): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19090.hp2 NA20805.hp1	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0007 a0016 a0025 a0030 a0033 a0036 a0042 a0044 a0047	a0002c0002 a0002c0003 a0002c0023 others(18): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0003c0007 a0003c0012 a0003c0028 a0003c0080 a0004c0019 a0004c0038 a0004c0052 a0007c0008 a0016c0031 a0025c0033 a0030c0066 a0033c0048 a0036c0051 a0042c0053 a0044c0055 a0047c0035	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(19): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0028t0002 a0003c0080t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0007c0008t0002 a0016c0031t0002 a0025c0033t0001 a0025c0033t0003 a0030c0066t0001 a0033c0048t0001 a0036c0051t0001 a0042c0053t0001 a0044c0055t0001 a0047c0035t0001	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 others(64): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0003c0007t0002g0056 a0003c0007t0002g0057 a0003c0007t0002g0058 a0003c0007t0002g0059 a0003c0007t0002g0060 a0003c0007t0002g0062 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0028t0002g0002 a0003c0080t0002g0074 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0007c0008t0002g0075 a0016c0031t0002g0072 a0025c0033t0001g0238 a0025c0033t0003g0237 a0030c0066t0001g0231 a0033c0048t0001g0224 a0036c0051t0001g0180 a0042c0053t0001g0191 a0044c0055t0001g0183 a0047c0035t0001g0161	69	246	0.2805	-21	c.711 others(40): Show c.7118-5799_7118-5779delGCACACACAGCACACATCAGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132820714	GCTGATGT others(14): Show GCTGATGTGTGCTGTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00733.hp1 HG01081.hp2 NA18940.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA19060.hp2	a0011 a0019 a0035 others(3): Show a0011 a0019 a0035 a0037 a0053 a0057	a0011c0010 a0019c0020 a0035c0057 others(3): Show a0011c0010 a0019c0020 a0035c0057 a0037c0056 a0053c0068 a0057c0088	a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 others(3): Show a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 a0037c0056t0001 a0053c0068t0002 a0057c0088t0002	a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 others(7): Show a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0019c0020t0001g0149 a0019c0020t0001g0150 a0035c0057t0001g0234 a0037c0056t0001g0136 a0053c0068t0002g0012 a0057c0088t0002g0042	10	246	0.0407	-21	c.711 others(40): Show c.7118-5821_7118-5801delTGCACACACAGCACACATCAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132820864	CTGTGTGT others(14): Show CTGTGTGTGCTGATGTGTGCTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0062 a0062	a0062c0093 a0062c0093	a0062c0093t0001 a0062c0093t0001	a0062c0093t0001g0121 a0062c0093t0001g0121	1	246	0.0041	-21	c.711 others(40): Show c.7118-5971_7118-5951delCAGCACACATCAGCACACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132820946	CTGTGTGT others(14): Show CTGTGTGTGCTGATGTGTGCTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp2 HG01891.hp1 HG06807.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0157 a0013c0022t0001g0158 a0013c0022t0001g0157 a0013c0022t0001g0158	2	246	0.0081	-21	c.711 others(40): Show c.7118-6053_7118-6033delCAGCACACATCAGCACACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132821100	TTGTGTGT others(14): Show TTGTGTGTGCTGATGTGTGCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(79): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19090.hp2 NA20805.hp1	a0002 a0003 a0004 others(15): Show a0002 a0003 a0004 a0007 a0010 a0012 a0016 a0025 a0030 a0033 a0036 a0041 a0042 a0044 a0047 a0052 a0061 a0070	a0002c0002 a0002c0003 a0002c0023 others(25): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0003c0007 a0003c0012 a0003c0028 a0003c0080 a0004c0005 a0004c0019 a0004c0038 a0004c0052 a0007c0008 a0010c0011 a0012c0025 a0016c0031 a0025c0033 a0030c0066 a0033c0048 a0036c0051 a0041c0049 a0042c0053 a0044c0055 a0047c0035 a0052c0067 a0061c0092 a0070c0074	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(27): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0028t0002 a0003c0080t0002 a0004c0005t0001 a0004c0005t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0007c0008t0002 a0010c0011t0001 a0012c0025t0002 a0016c0031t0002 a0025c0033t0001 a0025c0033t0003 a0030c0066t0001 a0033c0048t0001 a0036c0051t0001 a0041c0049t0001 a0042c0053t0001 a0044c0055t0001 a0047c0035t0001 a0052c0067t0002 a0061c0092t0001 a0070c0074t0002	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0160 others(77): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0003c0007t0002g0056 a0003c0007t0002g0057 a0003c0007t0002g0058 a0003c0007t0002g0059 a0003c0007t0002g0060 a0003c0007t0002g0062 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0028t0002g0002 a0003c0080t0002g0074 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0007c0008t0002g0075 a0010c0011t0001g0130 a0012c0025t0002g0007 a0012c0025t0002g0014 a0016c0031t0002g0072 a0025c0033t0001g0238 a0025c0033t0003g0237 a0030c0066t0001g0231 a0033c0048t0001g0224 a0036c0051t0001g0180 a0041c0049t0001g0176 a0042c0053t0001g0191 a0044c0055t0001g0183 a0047c0035t0001g0161 a0052c0067t0002g0013 a0061c0092t0001g0125 a0070c0074t0002g0006	82	246	0.3333	-21	c.711 others(40): Show c.7118-6207_7118-6187delCAGCACACATCAGCACACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132821311	GTGTGTGC others(14): Show GTGTGTGCTGTGTGAGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0130 a0010c0011t0001g0130	1	246	0.0041	-21	c.711 others(40): Show c.7118-6418_7118-6398delTCAGCACTCACACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132821404	CTGTGTGC others(14): Show CTGTGTGCTGTGTGAGCGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00733.hp1 HG01081.hp2 NA18940.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA19060.hp2	a0011 a0019 a0035 others(3): Show a0011 a0019 a0035 a0037 a0053 a0057	a0011c0010 a0019c0020 a0035c0057 others(3): Show a0011c0010 a0019c0020 a0035c0057 a0037c0056 a0053c0068 a0057c0088	a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 others(3): Show a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 a0037c0056t0001 a0053c0068t0002 a0057c0088t0002	a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 others(7): Show a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0019c0020t0001g0149 a0019c0020t0001g0150 a0035c0057t0001g0234 a0037c0056t0001g0136 a0053c0068t0002g0012 a0057c0088t0002g0042	10	246	0.0407	-21	c.711 others(40): Show c.7118-6511_7118-6491delTCAGCGCTCACACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132821721	TGCTGACG others(14): Show TGCTGACGTGTGCTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(7): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00733.hp1 HG01081.hp2 NA18940.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA19060.hp2	a0011 a0019 a0035 others(3): Show a0011 a0019 a0035 a0037 a0053 a0057	a0011c0010 a0019c0020 a0035c0057 others(3): Show a0011c0010 a0019c0020 a0035c0057 a0037c0056 a0053c0068 a0057c0088	a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 others(3): Show a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 a0037c0056t0001 a0053c0068t0002 a0057c0088t0002	a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 others(7): Show a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0019c0020t0001g0149 a0019c0020t0001g0150 a0035c0057t0001g0234 a0037c0056t0001g0136 a0053c0068t0002g0012 a0057c0088t0002g0042	10	246	0.0407	-21	c.711 others(40): Show c.7118-6828_7118-6808delGCACACACAGCACACGTCAGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132822193	CTGTGTGC others(14): Show CTGTGTGCTGTGTGTGTGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG02109.hp2 others(4): Show HG00544.hp2 HG00733.hp2 HG02109.hp2 HG02886.hp1 HG03017.hp1 NA19004.hp2 NA20905.hp2	a0028 a0038 a0051 others(3): Show a0028 a0038 a0051 a0064 a0065 a0071	a0028c0027 a0038c0037 a0051c0105 others(3): Show a0028c0027 a0038c0037 a0051c0105 a0064c0101 a0065c0102 a0071c0098	a0028c0027t0002 a0038c0037t0001 a0051c0105t0001 others(3): Show a0028c0027t0002 a0038c0037t0001 a0051c0105t0001 a0064c0101t0002 a0065c0102t0002 a0071c0098t0002	a0028c0027t0002g0028 a0028c0027t0002g0077 a0038c0037t0001g0230 others(4): Show a0028c0027t0002g0028 a0028c0027t0002g0077 a0038c0037t0001g0230 a0051c0105t0001g0239 a0064c0101t0002g0022 a0065c0102t0002g0018 a0071c0098t0002g0023	7	246	0.0285	-21	c.711 others(40): Show c.7118-7300_7118-7280delTCAGCACACACACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132822957	GGTGATGT others(14): Show GGTGATGTGTGCTGTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0024 a0024	a0024c0036 a0024c0036	a0024c0036t0001 a0024c0036t0001	a0024c0036t0001g0169 a0024c0036t0001g0169	1	246	0.0041	-21	c.711 others(40): Show c.7118-8064_7118-8044delTGCACACACAGCACACATCAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132825038	GTGATGTG others(14): Show GTGATGTGTGCTGTGTGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0036 a0036	a0036c0051 a0036c0051	a0036c0051t0001 a0036c0051t0001	a0036c0051t0001g0180 a0036c0051t0001g0180	1	246	0.0041	-21	c.711 others(40): Show c.7117+8299_7117+8319delGCGCACACACAGCACACATCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887717	CTCTCTCT others(14): Show CTCTCTCTCTCCTCTCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	246	0.0041	-21	c.330 others(40): Show c.3305-1779_3305-1759delAGAGGGGAGAGGAGAGAGAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	36077183	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18906.hp1 HG02572.hp1 NA18906.hp1	a0011 a0016 a0011 a0016	a0011c0030 a0016c0031 a0011c0030 a0016c0031	a0011c0030t0001 a0016c0031t0002 a0011c0030t0001 a0016c0031t0002	a0011c0030t0001g0185 a0016c0031t0002g0202 a0011c0030t0001g0185 a0016c0031t0002g0202	2	216	0.0093	-21	c.469 others(40): Show c.4691+3839_4691+3859delTTTTTTTTTTTTTTTTTTTTT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	29/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36303778	CAAGTTTA others(14): Show CAAGTTTATGGAATTAACACTA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02723.hp2 others(9): Show HG01891.hp1 HG02145.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03453.hp1 HG03471.hp1 NA19030.hp1 NA19240.hp1	a0007 a0015 a0022 others(1): Show a0007 a0015 a0022 a0033	a0007c0006 a0007c0077 a0015c0018 others(3): Show a0007c0006 a0007c0077 a0015c0018 a0015c0073 a0022c0078 a0033c0036	a0007c0006t0001 a0007c0077t0001 a0015c0018t0001 others(3): Show a0007c0006t0001 a0007c0077t0001 a0015c0018t0001 a0015c0073t0004 a0022c0078t0003 a0033c0036t0001	a0007c0006t0001g0178 a0007c0006t0001g0179 a0007c0006t0001g0180 others(9): Show a0007c0006t0001g0178 a0007c0006t0001g0179 a0007c0006t0001g0180 a0007c0006t0001g0181 a0007c0006t0001g0203 a0007c0006t0001g0206 a0007c0077t0001g0140 a0015c0018t0001g0007 a0015c0018t0001g0192 a0015c0073t0004g0137 a0022c0078t0003g0134 a0033c0036t0001g0010	12	216	0.0556	-21	c.797 others(36): Show c.7971-68_7971-48delGTTTATGGAATTAACACTAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	53/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631031	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0001 a0001c0004t0004g0001	2	316	0.0063	-21	c.117 others(40): Show c.1175-1856_1175-1836delGAGAGAGAGAGAGAGAGAGAG	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13			chr17	TogoVar
CFAP54_chr12_96484577_96880555	96825281	TTATATAT others(14): Show TTATATATAATATAATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02965.hp1 HG01168.hp1 HG02965.hp1	a0003 a0010 a0003 a0010	a0003c0002 a0010c0013 a0003c0002 a0010c0013	a0003c0002t0001 a0010c0013t0001 a0003c0002t0001 a0010c0013t0001	a0003c0002t0001g0242 a0010c0013t0001g0188 a0003c0002t0001g0242 a0010c0013t0001g0188	2	268	0.0075	-21	c.909 others(40): Show c.9097-3713_9097-3693delTATATATATAATATAATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96874612	CTTTTTTT others(14): Show CTTTTTTTTATTTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG01358.hp1 others(15): Show HG00544.hp2 HG01123.hp2 HG01358.hp1 HG01975.hp2 HG02148.hp1 NA18747.hp2 NA18947.hp2 NA18954.hp2 NA18970.hp2 NA18973.hp2 NA18984.hp2 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19065.hp2 NA19081.hp1 NA19084.hp2 NA19091.hp1	a0005 a0035 a0005 a0035	a0005c0004 a0005c0015 a0005c0020 others(2): Show a0005c0004 a0005c0015 a0005c0020 a0005c0041 a0035c0063	a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 others(2): Show a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 a0005c0041t0001 a0035c0063t0001	a0005c0004t0001g0010 a0005c0004t0001g0011 a0005c0004t0001g0012 others(15): Show a0005c0004t0001g0010 a0005c0004t0001g0011 a0005c0004t0001g0012 a0005c0004t0001g0013 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0005c0004t0001g0114 a0005c0004t0001g0115 a0005c0004t0001g0116 a0005c0015t0001g0016 a0005c0015t0001g0062 a0005c0015t0001g0102 a0005c0020t0001g0142 a0005c0020t0001g0213 a0005c0020t0001g0250 a0005c0041t0001g0057 a0035c0063t0001g0113	18	268	0.0672	-21	c.15 others(36): Show c.15-497_*15-477delATTTTTATTTTATTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	67/67		INFO_REALIGN_3_PRIME	chr12	TogoVar

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