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
CEACAM8_chr19_42575243_42599924	42581920	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	64	0.0156	28	c.41 others(43): Show c.41-568_*41-567insATATATATATATATATATATATATTTTT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581920	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	64	0.0156	28	c.41 others(43): Show c.41-568_*41-567insATATATATATATATATATATATATATAT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CECR2_chr22_17364460_17563151	17504046	C C	CTAAATAA others(21): Show CTAAATAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0018 a0012c0015t0018	a0012c0015t0018g0275 a0012c0015t0018g0275	1	125	0.0080	28	c.701 others(43): Show c.701-796_701-769dupTAAATAAATAAATAAATAAATAAATAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524387	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03139.hp1 HG01168.hp2 HG03139.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0006 a0004c0004t0029 a0003c0003t0006 a0004c0004t0029	a0003c0003t0006g0154 a0004c0004t0029g0282 a0003c0003t0006g0154 a0004c0004t0029g0282	2	119	0.0168	28	c.110 others(45): Show c.1108+139_1108+140insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01346.hp1 HG01981.hp1 others(3): Show HG00544.hp1 HG01346.hp1 HG01981.hp1 NA18612.hp1 NA18983.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0014 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0014 a0001c0003t0038 a0001c0004t0011	a0001c0001t0001g0114 a0001c0002t0001g0146 a0001c0002t0001g0158 others(3): Show a0001c0001t0001g0114 a0001c0002t0001g0146 a0001c0002t0001g0158 a0001c0003t0014g0132 a0001c0003t0038g0131 a0001c0004t0011g0122	6	13	0.4615	28	c.272 others(47): Show c.272-20392_272-20365dupGAAAGAAAGAAAGAAAGAAAGAAAGA AA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF3_chr1_151695058_151721803	151696498	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCGTTCTTTCGTTCTTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA19001.hp1 NA18950.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0002 a0001c0001t0018g0036 a0001c0001t0001g0002 a0001c0001t0018g0036	2	297	0.0067	28	c.69 others(39): Show c.6960_*6961insCGAAAGAACGAAAGAACGAAAGAAAGAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3559		chr1	TogoVar
CELF3_chr1_151695058_151721803	151696498	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCGTTCTTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 NA18960.hp2 HG01081.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	297	0.0067	28	c.69 others(39): Show c.6960_*6961insCGAAAGAACGAAAGAAAGAAAGAAAGAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3559		chr1	TogoVar
CELF5_chr19_3219661_3302076	3299578	T T	TTCTTCTT others(21): Show TTCTTCTTTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	243	0.0041	28	c.28 others(39): Show c.2861_*2862insTCTTCTTTTCTTCTTCTTCTTCTTCTTC	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2503		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46365956	A A	AAAGGTGG others(21): Show AAAGGTGGTGGGGGGAAAGGCTGGGGGGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	83	0.0120	28	c.830 others(45): Show c.8301-295_8301-268dupCCCCCCCAGCCTTTCCCCCCACCACCTT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CEL_chr9_133056981_133076861	133059866	T T	TCCTTTGA others(21): Show TCCTTTGACACAAGCCTTGGGTCTTGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	414	0.0024	28	c.-21 others(39): Show c.-2137_-2136insCCTTTGACACAAGCCTTGGGTCTTGGGC	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding		2114		chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728235	A A	ATATACGT others(21): Show ATATACGTATATATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02004.hp1 HG01975.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0182 a0001c0001t0001g0141 a0001c0001t0001g0182	2	295	0.0068	28	c.204 others(47): Show c.2049+1609_2049+1610insCGTGTATATATATATATATATACGTA TA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728265	A A	ATATATAT others(21): Show ATATATATATACGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01243.hp2 others(4): Show HG00323.hp2 HG00639.hp2 HG01243.hp2 HG02132.hp1 HG02145.hp2 HG03704.hp2 HG04199.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0003 a0009c0016 a0001c0001 a0004c0003 a0009c0016	a0001c0001t0002 a0001c0001t0005 a0004c0003t0001 others(3): Show a0001c0001t0002 a0001c0001t0005 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0009c0016t0004	a0001c0001t0002g0210 a0001c0001t0005g0139 a0004c0003t0001g0142 others(4): Show a0001c0001t0002g0210 a0001c0001t0005g0139 a0004c0003t0001g0142 a0004c0003t0001g0198 a0004c0003t0002g0143 a0004c0003t0003g0299 a0009c0016t0004g0163	7	307	0.0228	28	c.204 others(47): Show c.2049+1579_2049+1580insCGTATATATATATATACGTATATATA TA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728289	A A	ACGTATAT others(21): Show ACGTATATATATATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	282	0.0035	28	c.204 others(47): Show c.2049+1555_2049+1556insCGTGTATATATATATATATATATATA CG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71756191	C C	CTAGATAG others(21): Show CTAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp1 HG02896.hp2 others(3): Show HG01943.hp1 HG01993.hp1 HG02896.hp2 HG02897.hp1 NA18944.hp1 NA18997.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0010 a0002c0002 a0007c0010	a0002c0002t0001 a0007c0010t0028 a0002c0002t0001 a0007c0010t0028	a0002c0002t0001g0043 a0002c0002t0001g0057 a0002c0002t0001g0058 others(3): Show a0002c0002t0001g0043 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0068 a0007c0010t0028g0056 a0007c0010t0028g0059	6	249	0.0241	28	c.-12 others(45): Show c.-12-5807_-12-5806insTCTATCTATCTATCTATCTATCTATCTA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP_chr15_80774370_80956771	80832322	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	10	0.1000	28	c.-17 others(49): Show c.-175-41204_-175-41177dupGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900638	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18973.hp1 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0220 a0001c0001t0002g0203 a0001c0001t0002g0220	2	164	0.0122	28	c.141 others(47): Show c.1411+4589_1411+4590insGTGTGTGTGTGTGTGTCTGTGTGTGT GT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPA_chr2_26781056_26799589	26784448	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	110	0.0091	28	c.-17 others(39): Show c.-1749_-1748insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CENPA	ENSG00000115163.15	transcript	ENST00000335756.9	protein_coding		1607		chr2	TogoVar
CENPB_chr20_3778851_3791740	3788142	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG03579.hp1 others(1): Show HG02486.hp1 HG02559.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0000 a0001c0001t0012g0000 a0001c0001t0001g0000 a0001c0001t0012g0000	4	114	0.0351	28	c.-16 others(39): Show c.-1660_-1659insCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CENPB	ENSG00000125817.8	transcript	ENST00000379751.5	protein_coding		1403		chr20	TogoVar
CENPE_chr4_103100811_103203343	103112688	A A	ATATATAA others(21): Show ATATATAAGTGTATATATATACTTATAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp1 HG03225.hp2 others(2): Show HG02055.hp2 HG03139.hp1 HG03225.hp2 HG03540.hp2 NA19240.hp2	a0001 a0013 a0001 a0013	a0001c0004 a0013c0018 a0001c0004 a0013c0018	a0001c0004t0001 a0013c0018t0001 a0001c0004t0001 a0013c0018t0001	a0001c0004t0001g0289 a0001c0004t0001g0297 a0001c0004t0001g0299 others(2): Show a0001c0004t0001g0289 a0001c0004t0001g0297 a0001c0004t0001g0299 a0001c0004t0001g0300 a0013c0018t0001g0298	5	258	0.0194	28	c.754 others(47): Show c.7541-1705_7541-1678dupCTTATAAGTATATATATACACTTATA TA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103112688	A A	ATATATAA others(21): Show ATATATAAGTGTATATATATACTTGTAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03017.hp2 HG03209.hp2 HG02976.hp2 HG03017.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0008 a0001c0004t0001g0086 a0002c0002t0001g0065 a0001c0004t0001g0008 a0001c0004t0001g0086 a0002c0002t0001g0065	3	256	0.0117	28	c.754 others(47): Show c.7541-1678_7541-1677insCTTACAAGTATATATATACACTTATA TA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103132960	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01099.hp2 others(14): Show HG00323.hp2 HG00741.hp2 HG01099.hp2 HG01255.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01993.hp2 HG02040.hp2 HG02486.hp2 HG03516.hp2 HG03654.hp1 NA18612.hp1 NA18945.hp2 NA18972.hp1 NA19058.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0012	a0001c0004 a0002c0002 a0003c0003 others(2): Show a0001c0004 a0002c0002 a0003c0003 a0008c0009 a0012c0019	a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0008c0009t0001 a0012c0019t0001	a0001c0004t0001g0077 a0002c0002t0001g0022 a0002c0002t0001g0028 others(14): Show a0001c0004t0001g0077 a0002c0002t0001g0022 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0046 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0068 a0003c0003t0001g0108 a0003c0003t0001g0126 a0008c0009t0001g0143 a0012c0019t0001g0024	17	151	0.1126	28	c.672 others(43): Show c.6721-65_6721-64insTATATATATATATATATATATATATATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPJ_chr13_24877279_24927861	24881948	A A	ATACATCT others(21): Show ATACATCTATATAGATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	437	0.0023	28	c.12 others(39): Show c.1228_*1229insGATGTATCTATATATCTATATAGATGTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		330		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882002	A A	ATATAGAT others(21): Show ATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0003 a0002c0003t0003g0003	1	438	0.0023	28	c.11 others(39): Show c.1174_*1175insGATGTATCTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		276		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882024	A A	ATATAGAT others(21): Show ATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 NA18991.hp1 NA19000.hp2 HG01106.hp2 NA18991.hp1 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0089 a0002c0003t0003g0109 a0002c0003t0003g0129 a0002c0003t0003g0089 a0002c0003t0003g0109 a0002c0003t0003g0129	3	428	0.0070	28	c.11 others(39): Show c.1152_*1153insGATGTATCTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		254		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882028	A A	ATATATAG others(21): Show ATATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	407	0.0025	28	c.11 others(39): Show c.1148_*1149insGATGTATCTATATAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		250		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882050	A A	ATATATAG others(21): Show ATATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA18951.hp1 HG00673.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0174 a0001c0002t0001g0022 a0001c0002t0001g0174	2	403	0.0050	28	c.11 others(39): Show c.1126_*1127insGATGTATCTATATAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		228		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882213	G G	GATATATA others(21): Show GATATATAGATACATCTATATAGATAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG03130.hp1 NA19240.hp1 HG01123.hp2 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0213 a0001c0001t0006g0053 a0001c0001t0002g0213 a0001c0001t0006g0053	3	194	0.0155	28	c.96 others(37): Show c.963_*964insATCTATCTATATAGATGTATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		65		chr13	TogoVar
CENPK_chr5_65512766_65568168	65533350	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02083.hp1 NA19060.hp1 others(1): Show HG00735.hp1 HG02083.hp1 NA19060.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0205 others(1): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0205 a0001c0001t0004g0232	4	194	0.0206	28	c.289 others(45): Show c.289-4152_289-4151insATTTATTTATTTATTTATTTATTTATTT	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	6/10			chr5	TogoVar
CENPO_chr2_24788425_24827376	24817466	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03540.hp2 NA18954.hp2 HG03453.hp1 HG03540.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0020 a0002c0002t0008 a0001c0003t0020 a0002c0002t0008	a0001c0003t0020g0262 a0002c0002t0008g0058 a0002c0002t0008g0066 a0001c0003t0020g0262 a0002c0002t0008g0058 a0002c0002t0008g0066	3	57	0.0526	28	c.767 others(43): Show c.767-194_767-193insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CENPP_chr9_92320953_92625529	92352503	G G	GTATACAT others(21): Show GTATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0165 a0001c0001t0014g0165	1	244	0.0041	28	c.467 others(45): Show c.467+6717_467+6718insATACATATATATATATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(21): Show GTGTGTGTGTATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp1 HG02615.hp1 others(1): Show HG01099.hp2 HG01515.hp1 HG02615.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0006g0227 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0006g0227 a0001c0001t0008g0011	4	135	0.0296	28	c.467 others(45): Show c.467+6719_467+6720insGTGTGTGTATACATATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATACATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	132	0.0076	28	c.467 others(45): Show c.467+6719_467+6720insGTGTGTGTGTATACATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATACATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	132	0.0076	28	c.467 others(45): Show c.467+6719_467+6720insGTGTGTGTGTGTATACATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATACATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	132	0.0076	28	c.467 others(45): Show c.467+6719_467+6720insGTGTGTGTGTGTGTATACATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352510	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02615.hp2 HG03688.hp2 others(4): Show HG02080.hp2 HG02615.hp2 HG03688.hp2 HG03831.hp1 HG04184.hp2 NA18945.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0041 a0001c0001t0001 a0001c0001t0007 a0001c0001t0041	a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0253 others(4): Show a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0041g0236	7	80	0.0875	28	c.467 others(45): Show c.467+6725_467+6752dupTATATATATATATATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP112_chr17_65630537_66197133	65660177	C C	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02451.hp1 HG02027.hp2 HG02451.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0002 a0002c0001t0003 a0001c0003t0002 a0002c0001t0003	a0001c0003t0002g0109 a0002c0001t0003g0019 a0001c0003t0002g0109 a0002c0001t0003g0019	2	21	0.0952	28	c.269 others(49): Show c.2698-19140_2698-19113dupAGGAAGGAAGGAAGGAAGGAAGGA AGGA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65749760	A A	ACATTAGA others(21): Show ACATTAGATATTATTATCTTTTTGTTGTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00642.hp1 others(37): Show HG00280.hp2 HG00438.hp1 HG00642.hp1 HG00735.hp2 HG01081.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01517.hp2 HG01891.hp1 HG02027.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03492.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18983.hp2 NA18986.hp2 NA19002.hp2 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0004c0005	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(5): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0008 a0002c0004t0001 a0004c0005t0001	a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0034 others(37): Show a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0068 a0001c0002t0001g0084 a0001c0003t0001g0065 a0001c0003t0001g0082 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0016 a0002c0001t0001g0018 a0002c0001t0001g0025 a0002c0001t0001g0027 a0002c0001t0001g0031 a0002c0001t0001g0033 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0043 a0002c0001t0001g0045 a0002c0001t0001g0056 a0002c0001t0001g0061 a0002c0001t0001g0076 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0002g0111 a0002c0001t0004g0001 a0002c0001t0008g0040 a0002c0004t0001g0042 a0004c0005t0001g0050	40	110	0.3636	28	c.245 others(45): Show c.2457+874_2457+901dupAACAACAAAAAGATAATAATATCTAATG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	22/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65971415	A A	AGCAAATA others(21): Show AGCAAATATATTGGATGCATGTAATGTAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp2 HG02257.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0001 a0001c0003t0007	a0001c0003t0001g0005 a0001c0003t0007g0004 a0001c0003t0001g0005 a0001c0003t0007g0004	2	58	0.0345	28	c.173 others(47): Show c.1737-9818_1737-9817insATACATTACATGCATCCAATATATTT GC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65971415	A A	AGCACATA others(21): Show AGCACATATATTGGATGCATGTAATGTAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG02027.hp2 others(9): Show HG01109.hp2 HG01346.hp2 HG02027.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG03688.hp2 HG03831.hp2 NA18985.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0002c0001 a0003c0006 others(1): Show a0001c0003 a0002c0001 a0003c0006 a0005c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0002c0001t0003 a0003c0006t0001 a0003c0006t0002 a0005c0010t0001	a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0032 others(9): Show a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0032 a0001c0003t0001g0065 a0001c0003t0001g0081 a0001c0003t0002g0109 a0001c0003t0002g0112 a0001c0003t0006g0003 a0002c0001t0003g0019 a0003c0006t0001g0022 a0003c0006t0002g0110 a0005c0010t0001g0010	12	68	0.1765	28	c.173 others(47): Show c.1737-9818_1737-9817insATACATTACATGCATCCAATATATGT GC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65971415	A A	AGCACATA others(21): Show AGCACATATATTGGATGCATGTGATGTAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00642.hp2 others(37): Show HG00280.hp1 HG00438.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01517.hp1 HG02027.hp1 HG02055.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18983.hp2 NA18986.hp2 NA19002.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA20129.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0001 a0001c0002t0001 a0004c0005t0001	a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(37): Show a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0104 a0004c0005t0001g0050 a0004c0005t0001g0058	40	96	0.4167	28	c.173 others(47): Show c.1737-9818_1737-9817insATACATCACATGCATCCAATATATGT GC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66034972	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	51	0.0196	28	c.121 others(47): Show c.1219-4950_1219-4949insTATATACACACACACACACACACACA CA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01257.hp1 HG01258.hp1 others(8): Show HG00673.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 NA18957.hp2 NA18960.hp1 NA18966.hp1 NA18975.hp2 NA18986.hp1 NA18991.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 a0001c0001t0024 a0001c0001t0054 a0001c0001t0059	a0001c0001t0002g0200 a0001c0001t0002g0232 a0001c0001t0002g0240 others(7): Show a0001c0001t0002g0200 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0254 a0001c0001t0004g0219 a0001c0001t0009g0009 a0001c0001t0023g0221 a0001c0001t0024g0253 a0001c0001t0054g0201 a0001c0001t0059g0191	11	159	0.0692	28	c.249 others(45): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	102003186	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 NA18998.hp1 NA19065.hp2 HG03669.hp1 NA18998.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0074 a0002c0003t0003g0023 a0002c0003t0003g0127 a0001c0001t0001g0074 a0002c0003t0003g0023 a0002c0003t0003g0127	3	35	0.0857	28	c.55 others(39): Show c.5543_*5544insTATATATATATATATATATATATATATA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		2125		chr11	TogoVar
CEP128_chr14_80491479_80946738	80811818	T T	TTAGATAG others(21): Show TTAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18942.hp2 NA21309.hp2 HG02886.hp1 NA18942.hp2 NA21309.hp2	a0003 a0010 a0013 a0003 a0010 a0013	a0003c0003 a0010c0020 a0013c0017 a0003c0003 a0010c0020 a0013c0017	a0003c0003t0002 a0010c0020t0004 a0013c0017t0001 a0003c0003t0002 a0010c0020t0004 a0013c0017t0001	a0003c0003t0002g0125 a0010c0020t0004g0163 a0013c0017t0001g0007 a0003c0003t0002g0125 a0010c0020t0004g0163 a0013c0017t0001g0007	3	14	0.2143	28	c.121 others(49): Show c.1210-18736_1210-18709dupTCTATCTATCTATCTATCTATCTA TCTA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP162_chr6_84119250_84232643	84154358	G G	GTCTGTCT others(21): Show GTCTGTCTGTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0193 a0001c0005t0004g0193	1	204	0.0049	28	c.299 others(45): Show c.2994+939_2994+940insTAGATAGATAGATAGATAGACAGACAGA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	22/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84159547	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0108 a0001c0005t0004g0108	1	102	0.0098	28	c.278 others(47): Show c.2781+1264_2781+1265insAAAAAATATATATATATATATATATA TA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0023 a0023	a0023c0023 a0023c0023	a0023c0023t0006 a0023c0023t0006	a0023c0023t0006g0034 a0023c0023t0006g0034	1	302	0.0033	28	c.-21 others(45): Show c.-21-1042_-21-1041insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18999.hp1 NA19084.hp2 NA18994.hp1 NA18999.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0046	3	81	0.0370	28	c.367 others(47): Show c.3677-3336_3677-3309dupCACACACACACACACACACACACACA CA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243225992	T T	TACACGTA others(21): Show TACACGTATATATATCTAGATATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19240.hp2 NA18522.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0003g0112 a0002c0004t0001g0134 a0001c0001t0003g0112 a0002c0004t0001g0134	2	298	0.0067	28	c.-41 others(43): Show c.-41-699_-41-672dupGTATATATATCTAGATATATATACGTGT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP295NL_chr17_78885579_78908201	78893116	C C	CACATGTG others(21): Show CACATGTGTGTGCAGGGGTGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	426	0.0023	28	c.45- others(41): Show c.45-685_45-658dupACGCACACACACCCCTGCACACACATGT	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding	2/2			chr17	TogoVar

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