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
CDKN2AIP_chr4_183439636_183454064	183442038	GTATATAT others(19): Show GTATATATACACACACACATATGTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	1	468	0.0021	-26	c.-27 others(37): Show c.-2759_-2734delTATATATACACACACACATATGTATA	CDKN2AIP	ENSG00000168564.6	transcript	ENST00000504169.2	protein_coding		2597		chr4	TogoVar
CDON_chr11_125951821_126067866	126005305	AAAAAAAA others(19): Show AAAAAAAAAAAAAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01358.hp1 others(34): Show HG00639.hp1 HG00642.hp2 HG01358.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 NA18522.hp2 NA18947.hp2 NA18949.hp1 NA18968.hp1 NA18982.hp2 NA18990.hp1 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA20300.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0008 a0013 a0024 a0025 a0030	a0001c0009 a0001c0033 a0001c0067 others(13): Show a0001c0009 a0001c0033 a0001c0067 a0002c0002 a0002c0012 a0002c0014 a0002c0048 a0004c0006 a0005c0030 a0005c0046 a0006c0034 a0008c0029 a0013c0059 a0024c0036 a0025c0069 a0030c0038	a0001c0009t0004 a0001c0009t0014 a0001c0009t0059 others(21): Show a0001c0009t0004 a0001c0009t0014 a0001c0009t0059 a0001c0033t0043 a0001c0067t0003 a0002c0002t0066 a0002c0012t0004 a0002c0012t0077 a0002c0014t0001 a0002c0048t0026 a0004c0006t0004 a0004c0006t0014 a0004c0006t0015 a0004c0006t0055 a0005c0030t0038 a0005c0030t0096 a0005c0046t0002 a0006c0034t0002 a0006c0034t0050 a0008c0029t0007 a0013c0059t0108 a0024c0036t0026 a0025c0069t0080 a0030c0038t0004	a0001c0009t0004g0073 a0001c0009t0004g0092 a0001c0009t0004g0111 others(34): Show a0001c0009t0004g0073 a0001c0009t0004g0092 a0001c0009t0004g0111 a0001c0009t0004g0159 a0001c0009t0004g0247 a0001c0009t0014g0163 a0001c0009t0059g0215 a0001c0033t0043g0250 a0001c0067t0003g0042 a0002c0002t0066g0010 a0002c0012t0004g0100 a0002c0012t0004g0182 a0002c0012t0077g0272 a0002c0014t0001g0245 a0002c0048t0026g0140 a0004c0006t0004g0053 a0004c0006t0004g0178 a0004c0006t0004g0187 a0004c0006t0004g0198 a0004c0006t0004g0234 a0004c0006t0014g0054 a0004c0006t0014g0177 a0004c0006t0015g0186 a0004c0006t0015g0197 a0004c0006t0015g0235 a0004c0006t0055g0179 a0005c0030t0038g0005 a0005c0030t0096g0315 a0005c0046t0002g0183 a0006c0034t0002g0035 a0006c0034t0050g0225 a0008c0029t0007g0129 a0008c0029t0007g0130 a0013c0059t0108g0328 a0024c0036t0026g0144 a0025c0069t0080g0269 a0030c0038t0004g0196	37	332	0.1114	-26	c.185 others(43): Show c.1851+428_1851+453delGTTTGTTTGTTTGTTTTTTTTTTTTT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	9/19			chr11	TogoVar
CDS1_chr4_84578127_84656334	84625758	AGTAGGTT others(19): Show AGTAGGTTGGGAGACATGATCAGGCAG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0354 a0002c0002t0006g0354	1	382	0.0026	-26	c.581 others(43): Show c.581-6060_581-6035delGTAGGTTGGGAGACATGATCAGGCAG	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	5/12			chr4	TogoVar
CDS2_chr20_5122008_5202887	5202769	CACACACA others(19): Show CACACACACACAGACACACACACACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0297 a0001c0001t0008g0297	1	346	0.0029	-26	c.12 others(39): Show c.12536_*12561delACACACACACAGACACACACACACAG	CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding		4883		chr20	TogoVar
CDYL2_chr16_80592907_80809598	80759102	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0070 a0001c0013t0070	a0001c0013t0070g0253 a0001c0013t0070g0253	1	41	0.0244	-26	c.24+ others(43): Show c.24+45022_24+45047delTATATATATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL_chr6_4771404_4960544	4895216	TATGTGTA others(19): Show TATGTGTATAGATACATATATGTACAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02300.hp2 others(3): Show HG01167.hp1 HG01169.hp1 HG02300.hp2 HG02809.hp2 HG03486.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0043 a0001c0001t0002g0119 others(3): Show a0001c0001t0002g0013 a0001c0001t0002g0043 a0001c0001t0002g0119 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0216	6	248	0.0242	-26	c.691 others(43): Show c.691+2847_691+2872delGATACATATATGTACAGATGTGTATA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	60	0.0167	-26	c.691 others(43): Show c.691+8426_691+8451delATATATATATATATATATATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44667668	AAATATAT others(19): Show AAATATATATTATATATATAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	388	0.0026	-26	c.-42 others(37): Show c.-4263_-4238delAATATATATTATATATATAAATATAT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3813		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44510584	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0172 a0006c0009t0001g0172	1	431	0.0023	-26	c.173 others(43): Show c.1737+420_1737+445delTTCTTTCTTTCTTTCTTTCTTTCTTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44510597	AAAGAAAG others(19): Show AAAGAAAGAAAGAAAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01106.hp1 HG01169.hp1 others(13): Show HG00597.hp2 HG01106.hp1 HG01169.hp1 HG01255.hp2 HG01517.hp2 HG02132.hp2 HG02602.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 NA18986.hp1 NA19000.hp2 NA19064.hp2 NA19078.hp1 NA19083.hp1 NA19088.hp2	a0002 a0004 a0015 a0002 a0004 a0015	a0002c0002 a0004c0003 a0004c0011 others(1): Show a0002c0002 a0004c0003 a0004c0011 a0015c0020	a0002c0002t0001 a0004c0003t0001 a0004c0011t0001 others(1): Show a0002c0002t0001 a0004c0003t0001 a0004c0011t0001 a0015c0020t0001	a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0020 others(12): Show a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0039 a0002c0002t0001g0224 a0002c0002t0001g0228 a0002c0002t0001g0242 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0296 a0004c0003t0001g0008 a0004c0003t0001g0299 a0004c0003t0001g0324 a0004c0011t0001g0126 a0015c0020t0001g0116	16	422	0.0379	-26	c.173 others(43): Show c.1737+407_1737+432delCCTTCCTTCCTTTTTCTTTCTTTCTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532539	GAAAGGAA others(19): Show GAAAGGAAAGAAAGGAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG02698.hp2 others(2): Show HG00735.hp1 HG01070.hp1 HG02698.hp2 HG03453.hp2 HG03669.hp2	a0003 a0005 a0011 others(1): Show a0003 a0005 a0011 a0030	a0003c0004 a0005c0005 a0011c0014 others(1): Show a0003c0004 a0005c0005 a0011c0014 a0030c0043	a0003c0004t0001 a0005c0005t0001 a0011c0014t0001 others(1): Show a0003c0004t0001 a0005c0005t0001 a0011c0014t0001 a0030c0043t0001	a0003c0004t0001g0054 a0003c0004t0001g0318 a0005c0005t0001g0244 others(2): Show a0003c0004t0001g0054 a0003c0004t0001g0318 a0005c0005t0001g0244 a0011c0014t0001g0043 a0030c0043t0001g0314	5	435	0.0115	-26	c.-30 others(37): Show c.-3056_-3031delTCTTTCTTTCTTCCTTTCTTTCCTTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2865		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532544	GAAAGAAA others(19): Show GAAAGAAAGGAAGAAAGAAAGAAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG03209.hp1 NA20300.hp1 HG01496.hp1 HG03209.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0159 a0001c0001t0001g0203 a0001c0001t0001g0212	3	396	0.0076	-26	c.-30 others(37): Show c.-3061_-3036delTCTTTTCTTTCTTTCTTCCTTTCTTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2870		chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41626063	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	19	0.0526	-26	c.65- others(39): Show c.65-129_65-104delACACACACACACACACACACACACAC	CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding	1/6			chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37202644	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0003 a0001c0001t0081g0003	1	102	0.0098	-26	c.80 others(35): Show c.807_*832delAAAAAAAAAAAAAAAAAAAAAAAAAA	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding	5/5	943	INFO_REALIGN_3_PRIME	chr2	TogoVar
CEBPZ_chr2_37196612_37236596	37202644	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0076 a0001c0004t0001g0076	1	95	0.0105	-26	c.302 others(43): Show c.3025+114_3025+139delTTTTTTTTTTTTTTTTTTTTTTTTTT	CEBPZ	ENSG00000115816.15	transcript	ENST00000234170.10	protein_coding	15/15			chr2	TogoVar
CELF2_chr10_11012872_11341675	11211807	AGAGAGAG others(19): Show AGAGAGAGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp1 HG02486.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0047 a0001c0002t0002 a0001c0004t0047	a0001c0002t0002g0068 a0001c0004t0047g0156 a0001c0002t0002g0068 a0001c0004t0047g0156	2	189	0.0106	-26	c.272 others(43): Show c.272-5616_272-5591delAGAGAGTGTGTGTGTGTGTGTGTGTG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11285826	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG06807.hp2 HG02486.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0022 a0001c0003t0022 a0001c0002t0022 a0001c0003t0022	a0001c0002t0022g0053 a0001c0003t0022g0155 a0001c0002t0022g0053 a0001c0003t0022g0155	2	69	0.0290	-26	c.842 others(43): Show c.842-2565_842-2540delGTGTGTGTGTGTGTGTGTGTGTGTGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELSR1_chr22_46356174_46542620	46365864	GGAAGGTG others(19): Show GGAAGGTGGTGGGTGGAAAGGTTGGGT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0045 a0045	a0045c0037 a0045c0037	a0045c0037t0008 a0045c0037t0008	a0045c0037t0008g0026 a0045c0037t0008g0026	1	102	0.0098	-26	c.830 others(43): Show c.8301-201_8301-176delACCCAACCTTTCCACCCACCACCTTC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CELSR3_chr3_48631463_48667886	48644340	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGGCAATGAGAGAC	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	204	0.0049	-26	c.808 others(41): Show c.8086-71_8086-46delGTCTCTCATTGCCTCTCTCTCTCTCT	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding	26/34			chr3	TogoVar
CEMIP_chr15_80774370_80956771	80848953	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02647.hp2 others(7): Show HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG03225.hp1 HG03516.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0012 a0001c0014 a0001c0020 a0001c0033	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0008t0003 a0001c0012t0001 a0001c0014t0001 a0001c0020t0003 a0001c0033t0003	a0001c0001t0001g0234 a0001c0003t0001g0002 a0001c0003t0001g0117 others(7): Show a0001c0001t0001g0234 a0001c0003t0001g0002 a0001c0003t0001g0117 a0001c0003t0002g0202 a0001c0003t0005g0105 a0001c0008t0003g0156 a0001c0012t0001g0246 a0001c0014t0001g0074 a0001c0020t0003g0254 a0001c0033t0003g0151	10	11	0.9091	-26	c.-17 others(47): Show c.-175-24558_-175-24533delTTTTTTTTTTTTTTTTTTTTTTTT TT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900624	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01361.hp2 HG01433.hp2 HG01168.hp2 HG01361.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0125 a0001c0001t0009g0166 a0001c0001t0009g0167 a0001c0001t0001g0125 a0001c0001t0009g0166 a0001c0001t0009g0167	3	252	0.0119	-26	c.141 others(45): Show c.1411+4576_1411+4601delGTGTGTGTGTGTGTCTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900636	GTGTGTGT others(19): Show GTGTGTGTGTGTGTCTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	251	0.0040	-26	c.141 others(45): Show c.1411+4590_1411+4615delCTGTGTGTGTGTCTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPC_chr4_67463762_67550503	67490855	TATATATA others(19): Show TATATATATATATATATATATATAGAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG02922.hp1 HG03195.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0015 a0008c0008t0015	a0008c0008t0015g0011 a0008c0008t0015g0012 a0008c0008t0015g0011 a0008c0008t0015g0012	2	336	0.0060	-26	c.251 others(43): Show c.2516-760_2516-735delTTCTATATATATATATATATATATAT	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	16/18			chr4	TogoVar
CENPE_chr4_103100811_103203343	103113125	TGTGTATA others(19): Show TGTGTATATATACTTATAAGTATATAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG01884.hp1 others(20): Show HG00735.hp1 HG01243.hp2 HG01884.hp1 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03579.hp1 NA18522.hp1 NA18612.hp1 NA18948.hp1 NA19010.hp2 NA19030.hp1 NA20129.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0014 a0015	a0001c0007 a0002c0002 a0003c0003 others(7): Show a0001c0007 a0002c0002 a0003c0003 a0004c0005 a0004c0012 a0006c0008 a0009c0011 a0010c0014 a0014c0021 a0015c0016	a0001c0007t0001 a0002c0002t0001 a0003c0003t0001 others(7): Show a0001c0007t0001 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0004c0012t0001 a0006c0008t0001 a0009c0011t0001 a0010c0014t0002 a0014c0021t0001 a0015c0016t0001	a0001c0007t0001g0092 a0001c0007t0001g0095 a0001c0007t0001g0096 others(20): Show a0001c0007t0001g0092 a0001c0007t0001g0095 a0001c0007t0001g0096 a0001c0007t0001g0098 a0001c0007t0001g0099 a0001c0007t0001g0100 a0002c0002t0001g0031 a0002c0002t0001g0054 a0003c0003t0001g0116 a0004c0005t0001g0076 a0004c0012t0001g0093 a0004c0012t0001g0097 a0006c0008t0001g0290 a0006c0008t0001g0291 a0006c0008t0001g0292 a0006c0008t0001g0293 a0006c0008t0001g0294 a0009c0011t0001g0019 a0009c0011t0001g0020 a0010c0014t0002g0149 a0010c0014t0002g0150 a0014c0021t0001g0018 a0015c0016t0001g0094	23	314	0.0732	-26	c.754 others(45): Show c.7540+1304_7540+1329delTTATATACTTATAAGTATATATACAC	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPF_chr1_214598195_214669571	214624010	ATTTTAAG others(19): Show ATTTTAAGATAATCGTAGATTCATATG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG01496.hp1 others(15): Show HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02523.hp1 HG03704.hp2 HG03831.hp1 NA18943.hp1 NA18952.hp1 NA18973.hp2 NA18982.hp1 NA18998.hp1 NA19074.hp1 NA19082.hp2 NA19091.hp2 NA20300.hp1	a0005 a0026 a0029 others(1): Show a0005 a0026 a0029 a0043	a0005c0005 a0026c0044 a0029c0045 others(1): Show a0005c0005 a0026c0044 a0029c0045 a0043c0043	a0005c0005t0003 a0026c0044t0003 a0029c0045t0003 others(1): Show a0005c0005t0003 a0026c0044t0003 a0029c0045t0003 a0043c0043t0006	a0005c0005t0003g0005 a0005c0005t0003g0012 a0005c0005t0003g0209 others(9): Show a0005c0005t0003g0005 a0005c0005t0003g0012 a0005c0005t0003g0209 a0005c0005t0003g0210 a0005c0005t0003g0211 a0005c0005t0003g0213 a0005c0005t0003g0214 a0005c0005t0003g0215 a0005c0005t0003g0216 a0026c0044t0003g0206 a0029c0045t0003g0207 a0043c0043t0006g0212	18	280	0.0643	-26	c.106 others(45): Show c.1068+1730_1068+1755delTTTTAAGATAATCGTAGATTCATATG	CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	7/19			chr1	TogoVar
CENPK_chr5_65512766_65568168	65527498	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02055.hp1 HG02109.hp2 others(13): Show HG01516.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03516.hp1 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0221 a0001c0001t0001g0261 a0001c0001t0001g0286 others(10): Show a0001c0001t0001g0221 a0001c0001t0001g0261 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0001t0003g0045 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061	16	19	0.8421	-26	c.597 others(41): Show c.597+928_597+953delATATATATATATATATATATATATAT	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	9/10			chr5	TogoVar
CENPVL1_chrX_51705512_51717131	51707495	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	24	0.0417	-26	c.-30 others(37): Show c.-3016_-2991delACACACACACACACACACACACACAC	CENPVL1	ENSG00000223591.5	transcript	ENST00000602548.2	protein_coding		3016		chrX	TogoVar
CEP112_chr17_65630537_66197133	65864913	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG02486.hp1 HG03041.hp2	a0002 a0003 a0002 a0003	a0002c0007 a0003c0006 a0002c0007 a0003c0006	a0002c0007t0001 a0003c0006t0001 a0002c0007t0001 a0003c0006t0001	a0002c0007t0001g0108 a0003c0006t0001g0022 a0002c0007t0001g0108 a0003c0006t0001g0022	2	20	0.1000	-26	c.216 others(47): Show c.2164-12905_2164-12880delACACACACACACACACACACACAC AC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101911094	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01516.hp1 others(1): Show HG01109.hp1 HG01257.hp2 HG01516.hp1 HG02622.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0005 a0001c0001 a0003c0004 a0005c0005	a0001c0001t0006 a0003c0004t0038 a0005c0005t0005 a0001c0001t0006 a0003c0004t0038 a0005c0005t0005	a0001c0001t0006g0004 a0001c0001t0006g0083 a0003c0004t0038g0314 others(1): Show a0001c0001t0006g0004 a0001c0001t0006g0083 a0003c0004t0038g0314 a0005c0005t0005g0093	4	10	0.4000	-26	c.-41 others(37): Show c.-4190_-4165delTTTTTTTTTTTTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3915		chr11	TogoVar
CEP128_chr14_80491479_80946738	80647037	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01261.hp2 others(19): Show HG00642.hp1 HG00735.hp2 HG01261.hp2 HG01515.hp2 HG01934.hp1 HG02004.hp2 HG02109.hp2 HG02615.hp2 HG02647.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp1 NA18947.hp2 NA18952.hp2 NA18979.hp2 NA18980.hp2 NA19009.hp1 NA19012.hp1 NA19060.hp2 NA19079.hp1 NA19079.hp2 NA20300.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0002c0002 a0002c0006 others(3): Show a0001c0001 a0002c0002 a0002c0006 a0004c0004 a0008c0011 a0010c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0002c0002t0003 a0002c0006t0003 a0004c0004t0003 a0004c0004t0012 a0008c0011t0002 a0010c0020t0004	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0045 others(19): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0002g0099 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0006g0100 a0001c0001t0006g0110 a0001c0001t0006g0114 a0001c0001t0006g0118 a0001c0001t0006g0119 a0002c0002t0003g0068 a0002c0006t0003g0096 a0002c0006t0003g0097 a0004c0004t0003g0140 a0004c0004t0012g0103 a0008c0011t0002g0109 a0010c0020t0004g0163	22	86	0.2558	-26	c.280 others(47): Show c.2807-66640_2807-66615delTATATATATATATATATATATATA TA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656275	TTATTTAT others(19): Show TTATTTATATATATATTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG03490.hp2 HG02965.hp2 HG02976.hp1 HG03490.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0004 a0005c0005t0001 a0001c0001t0001 a0002c0002t0004 a0005c0005t0001	a0001c0001t0001g0025 a0002c0002t0004g0138 a0005c0005t0001g0027 a0001c0001t0001g0025 a0002c0002t0004g0138 a0005c0005t0001g0027	3	111	0.0270	-26	c.280 others(47): Show c.2807-75878_2807-75853delTATATATATAAATATATATATAAA TA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(19): Show GGGGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0013 a0001c0001t0005g0009 a0001c0001t0005g0013	2	114	0.0175	-26	c.280 others(47): Show c.2806+13993_2806+14018delACACACACACACACACACACACAC CC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP170B_chr14_104860268_104901747	104862071	TCATCACC others(19): Show TCATCACCACCCTCTATCTCCACTGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(90): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18960.hp2 NA18975.hp2 NA18979.hp2 NA18995.hp2 NA19002.hp2 NA19043.hp1 NA19074.hp2 NA19083.hp1 NA19089.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0010 a0015 a0016 a0025	a0001c0002 a0001c0003 a0001c0022 others(16): Show a0001c0002 a0001c0003 a0001c0022 a0001c0032 a0001c0082 a0001c0083 a0001c0087 a0001c0088 a0002c0004 a0002c0009 a0002c0012 a0002c0028 a0002c0029 a0002c0060 a0006c0030 a0010c0086 a0015c0089 a0016c0084 a0025c0085	a0001c0002t0002 a0001c0003t0002 a0001c0003t0021 others(20): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0021 a0001c0003t0022 a0001c0022t0001 a0001c0022t0004 a0001c0032t0024 a0001c0082t0002 a0001c0083t0002 a0001c0087t0002 a0001c0088t0002 a0002c0004t0002 a0002c0009t0002 a0002c0009t0012 a0002c0012t0002 a0002c0028t0002 a0002c0029t0002 a0002c0060t0002 a0006c0030t0002 a0010c0086t0002 a0015c0089t0002 a0016c0084t0002 a0025c0085t0002	a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0032 others(72): Show a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0182 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0191 a0001c0002t0002g0205 a0001c0002t0002g0210 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0003t0002g0003 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0183 a0001c0003t0002g0186 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0211 a0001c0003t0002g0218 a0001c0003t0002g0222 a0001c0003t0002g0226 a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0021g0231 a0001c0003t0022g0187 a0001c0022t0001g0225 a0001c0022t0004g0199 a0001c0022t0004g0200 a0001c0032t0024g0167 a0001c0082t0002g0033 a0001c0083t0002g0212 a0001c0087t0002g0195 a0001c0088t0002g0224 a0002c0004t0002g0002 a0002c0004t0002g0035 a0002c0004t0002g0036 a0002c0004t0002g0171 a0002c0004t0002g0173 a0002c0004t0002g0189 a0002c0004t0002g0194 a0002c0004t0002g0198 a0002c0004t0002g0202 a0002c0004t0002g0203 a0002c0004t0002g0213 a0002c0009t0002g0009 a0002c0009t0002g0193 a0002c0009t0002g0201 a0002c0009t0002g0219 a0002c0009t0012g0175 a0002c0012t0002g0002 a0002c0012t0002g0197 a0002c0012t0002g0214 a0002c0028t0002g0192 a0002c0028t0002g0204 a0002c0029t0002g0037 a0002c0060t0002g0177 a0006c0030t0002g0176 a0006c0030t0002g0196 a0010c0086t0002g0206 a0015c0089t0002g0009 a0016c0084t0002g0223 a0025c0085t0002g0209	93	326	0.2853	-26	c.-34 others(37): Show c.-3469_-3444delCATCACCACCCTCTATCTCCACTGTC	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding		3196		chr14	TogoVar
CEP41_chr7_130388771_130446016	130436578	TGTACTCA others(19): Show TGTACTCATGTAAAATATAATCATTGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(49): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02698.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 others(17): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0026 a0001c0001t0030 a0001c0001t0039 a0001c0001t0044 a0001c0001t0050 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063	a0001c0001t0005g0130 a0001c0001t0006g0013 a0001c0001t0006g0101 others(47): Show a0001c0001t0005g0130 a0001c0001t0006g0013 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0006g0105 a0001c0001t0006g0106 a0001c0001t0006g0113 a0001c0001t0006g0115 a0001c0001t0006g0175 a0001c0001t0009g0014 a0001c0001t0009g0088 a0001c0001t0009g0090 a0001c0001t0009g0107 a0001c0001t0009g0108 a0001c0001t0009g0109 a0001c0001t0009g0110 a0001c0001t0009g0112 a0001c0001t0009g0117 a0001c0001t0011g0087 a0001c0001t0011g0091 a0001c0001t0011g0092 a0001c0001t0011g0118 a0001c0001t0011g0131 a0001c0001t0011g0135 a0001c0001t0011g0137 a0001c0001t0011g0178 a0001c0001t0016g0037 a0001c0001t0016g0100 a0001c0001t0016g0114 a0001c0001t0016g0116 a0001c0001t0016g0119 a0001c0001t0026g0303 a0001c0001t0030g0133 a0001c0001t0030g0136 a0001c0001t0039g0202 a0001c0001t0039g0203 a0001c0001t0044g0121 a0001c0001t0050g0025 a0001c0001t0054g0026 a0001c0001t0055g0027 a0001c0001t0056g0029 a0001c0001t0057g0132 a0001c0001t0058g0111 a0001c0001t0059g0089 a0001c0001t0060g0028 a0001c0001t0061g0134 a0001c0001t0062g0099 a0001c0001t0063g0093	52	344	0.1512	-26	c.33+ others(41): Show c.33+4330_33+4355delCCAATGATTATATTTTACATGAGTAC	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	1/10			chr7	TogoVar
CEP57L1_chr6_109090507_109179418	109136697	GTATTTTT others(19): Show GTATTTTTATTTTATTTTATTTTATTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03453.hp1 NA18906.hp1 others(1): Show HG01891.hp1 HG03453.hp1 NA18906.hp1 NA20300.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0030 a0003c0005t0031 a0003c0005t0032 others(1): Show a0003c0005t0030 a0003c0005t0031 a0003c0005t0032 a0003c0005t0033	a0003c0005t0030g0004 a0003c0005t0031g0004 a0003c0005t0032g0208 others(1): Show a0003c0005t0030g0004 a0003c0005t0031g0004 a0003c0005t0032g0208 a0003c0005t0033g0215	4	184	0.0217	-26	c.-3- others(41): Show c.-3-8515_-3-8490delTATTTTATTTTATTTTATTTTATTTT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109142946	GCTCTCTC others(19): Show GCTCTCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(32): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00639.hp1 HG00738.hp2 HG01123.hp2 HG01175.hp1 HG01257.hp1 HG01433.hp2 HG01891.hp1 HG01952.hp2 HG02083.hp1 HG02486.hp2 HG02572.hp1 HG02735.hp1 HG02738.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA18998.hp2 NA19007.hp1 NA19030.hp1 NA19063.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0005	a0001c0001t0011 a0001c0001t0025 a0001c0001t0026 others(14): Show a0001c0001t0011 a0001c0001t0025 a0001c0001t0026 a0001c0007t0027 a0002c0002t0002 a0002c0002t0023 a0002c0002t0024 a0002c0002t0063 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0070 a0002c0002t0073 a0002c0002t0075 a0003c0005t0030 a0003c0005t0031 a0003c0005t0032	a0001c0001t0011g0218 a0001c0001t0011g0219 a0001c0001t0011g0220 others(29): Show a0001c0001t0011g0218 a0001c0001t0011g0219 a0001c0001t0011g0220 a0001c0001t0025g0217 a0001c0001t0026g0221 a0001c0007t0027g0005 a0002c0002t0002g0001 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0023 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0023g0020 a0002c0002t0023g0025 a0002c0002t0024g0024 a0002c0002t0024g0026 a0002c0002t0063g0022 a0002c0002t0067g0021 a0002c0002t0068g0012 a0002c0002t0069g0016 a0002c0002t0070g0001 a0002c0002t0073g0010 a0002c0002t0075g0205 a0003c0005t0030g0004 a0003c0005t0031g0004 a0003c0005t0032g0208	35	47	0.7447	-26	c.-3- others(41): Show c.-3-2239_-3-2214delTCTCTCTCTCTCTCTCTCTCTCTCTC	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109177637	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0079 a0002c0002t0079	a0002c0002t0079g0204 a0002c0002t0079g0204	1	55	0.0182	-26	c.14 others(39): Show c.14668_*14693delATATATATATATATATATATATATAT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3220		chr6	TogoVar
CEP72_chr5_607340_658553	648885	GACTGTGA others(19): Show GACTGTGAGGCGTGGACTGTGAGGGGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01192.hp1 others(16): Show HG01069.hp1 HG01070.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG02015.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 NA18948.hp1 NA18950.hp1 NA18999.hp1 NA19010.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0007 a0001c0001 a0001c0006 a0005c0007	a0001c0001t0001 a0001c0006t0001 a0005c0007t0001 a0001c0001t0001 a0001c0006t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0006t0001g0015 a0001c0006t0001g0027 a0005c0007t0001g0074	19	90	0.2111	-26	c.177 others(43): Show c.1778+970_1778+995delACTGTGAGGCGTGGACTGTGAGGGGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP72_chr5_607340_658553	651272	GGACTGTG others(19): Show GGACTGTGAGGTGTGACTGTGAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02451.hp2 NA20129.hp2 HG01258.hp1 HG02451.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0002 a0003c0005t0002 a0003c0003t0002 a0003c0005t0002	a0003c0003t0002g0025 a0003c0005t0002g0017 a0003c0005t0002g0022 a0003c0003t0002g0025 a0003c0005t0002g0017 a0003c0005t0002g0022	3	88	0.0341	-26	c.177 others(45): Show c.1779-1692_1779-1667delTGTGACTGTGAGGTGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP85L_chr6_118455772_118656591	118567233	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp2 HG02647.hp1 others(3): Show HG01081.hp2 HG02280.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG03471.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0009 a0002c0002t0026 a0006c0006t0020 a0001c0001t0009 a0002c0002t0026 a0006c0006t0020	a0001c0001t0009g0073 a0001c0001t0009g0074 a0001c0001t0009g0075 others(3): Show a0001c0001t0009g0073 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0009g0076 a0002c0002t0026g0186 a0006c0006t0020g0244	6	285	0.0211	-26	c.233 others(41): Show c.233-943_233-918delTATATATATACACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567235	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02976.hp2 others(2): Show HG01884.hp1 HG02559.hp2 HG02976.hp2 HG03486.hp2 HG03490.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0027 a0003c0003t0003 a0002c0002t0002 a0002c0002t0027 a0003c0003t0003	a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 others(2): Show a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0027g0293 a0003c0003t0003g0001	5	267	0.0187	-26	c.233 others(41): Show c.233-945_233-920delTATATATATATACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567237	GTGTGTGT others(19): Show GTGTGTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00733.hp1 others(33): Show HG00280.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02273.hp2 HG02572.hp2 HG03491.hp2 HG03927.hp1 NA18522.hp1 NA18951.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18981.hp1 NA18990.hp1 NA19007.hp1 NA19081.hp2	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0003c0003 a0011c0010 a0002c0002 a0003c0003 a0011c0010	a0002c0002t0002 a0003c0003t0003 a0011c0010t0003 a0002c0002t0002 a0003c0003t0003 a0011c0010t0003	a0002c0002t0002g0193 a0002c0002t0002g0233 a0002c0002t0002g0238 others(33): Show a0002c0002t0002g0193 a0002c0002t0002g0233 a0002c0002t0002g0238 a0002c0002t0002g0279 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0012 a0003c0003t0003g0014 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0040 a0011c0010t0003g0015	36	262	0.1374	-26	c.233 others(41): Show c.233-947_233-922delTATATATATATATACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567239	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0013 a0003c0003t0003g0013	1	250	0.0040	-26	c.233 others(41): Show c.233-949_233-924delTATATATATATATATACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CERKL_chr2_181531672_181662105	181641330	TATATATA others(19): Show TATATATATATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03491.hp2 HG02738.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0151 a0001c0001t0001g0152	2	293	0.0068	-26	c.238 others(45): Show c.238+15413_238+15438delGTATATATATGTATATATATATATAT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS3_chr15_100395395_100533950	100497852	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00735.hp2 others(2): Show HG00323.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0340 a0001c0003t0010g0341 a0001c0003t0010g0342 others(2): Show a0001c0003t0010g0340 a0001c0003t0010g0341 a0001c0003t0010g0342 a0001c0003t0010g0343 a0001c0003t0010g0344	5	218	0.0229	-26	c.173 others(43): Show c.173+3799_173+3824delGTGTGTGTGTGTGTGTGTGTGTGTGT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8229395	TTTCTTCT others(19): Show TTTCTTCTTCTTCTTTCTTCTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0010 a0003c0007t0010	a0003c0007t0010g0032 a0003c0007t0010g0032	1	415	0.0024	-26	c.-2+ others(43): Show c.-2+18548_-2+18573delTCTTCTTTTTTCTTCTTCTTCTTCTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERT1_chr5_75372775_75516629	75388599	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00544.hp2 others(71): Show HG00140.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02293.hp2 HG02523.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02922.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18941.hp2 NA18947.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18999.hp1 NA19001.hp2 NA19005.hp1 NA19054.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 a0001c0002t0021 a0001c0002t0022	a0001c0001t0001g0031 a0001c0002t0001g0010 a0001c0002t0001g0011 others(71): Show a0001c0001t0001g0031 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0004g0019 a0001c0002t0004g0023 a0001c0002t0004g0034 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0048 a0001c0002t0004g0062 a0001c0002t0004g0066 a0001c0002t0004g0067 a0001c0002t0004g0088 a0001c0002t0018g0016 a0001c0002t0021g0078 a0001c0002t0022g0015	74	102	0.7255	-26	c.128 others(43): Show c.1284+967_1284+992delATATATATATATATATATATATATAT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	12/16			chr5	TogoVar
CES3_chr16_66956266_66980149	66956786	TGAGGCAC others(19): Show TGAGGCACAGGAATTGCTTGAACCTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	328	0.0030	-26	c.-45 others(37): Show c.-4521_-4496delGAGGCACAGGAATTGCTTGAACCTAG	CES3	ENSG00000172828.13	transcript	ENST00000303334.9	protein_coding		4479		chr16	TogoVar
CFAP100_chr3_126389909_126441556	126401397	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG01928.hp2 others(31): Show HG01081.hp1 HG01255.hp2 HG01928.hp2 HG01975.hp2 HG02004.hp2 HG02055.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03139.hp1 NA18944.hp1 NA18945.hp1 NA18955.hp2 NA18961.hp1 NA18965.hp2 NA18967.hp1 NA18977.hp2 NA18987.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0002c0004 a0005c0009 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 a0002c0004t0001 a0005c0009t0001 a0005c0009t0002 a0009c0017t0001	a0001c0001t0001g0030 a0001c0001t0001g0151 a0001c0001t0001g0261 others(24): Show a0001c0001t0001g0030 a0001c0001t0001g0151 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0362 a0001c0001t0002g0054 a0001c0003t0001g0005 a0001c0003t0001g0051 a0001c0003t0001g0150 a0001c0006t0001g0004 a0001c0006t0001g0029 a0001c0006t0001g0263 a0001c0006t0001g0264 a0001c0006t0001g0265 a0001c0006t0001g0266 a0002c0004t0001g0149 a0005c0009t0001g0046 a0005c0009t0001g0148 a0005c0009t0001g0267 a0005c0009t0002g0058 a0009c0017t0001g0147	34	92	0.3696	-26	c.49+ others(41): Show c.49+5369_49+5394delTATATATATATATATATATATATATA	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP100_chr3_126389909_126441556	126427472	GGTGTCTG others(19): Show GGTGTCTGGTCTCTTTCCCTCAGTGCC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	420	0.0024	-26	c.128 others(45): Show c.1286+3836_1286+3861delGTCTCTTTCCCTCAGTGCCGTGTCTG	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr3	TogoVar

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