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
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp2 HG02258.hp2 others(4): Show HG01934.hp1 HG01934.hp2 HG02258.hp2 HG02738.hp1 HG03139.hp2 NA19070.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0002g0018 a0001c0001t0005g0141 a0001c0001t0006g0048 others(1): Show a0001c0001t0002g0018 a0001c0001t0005g0141 a0001c0001t0006g0048 a0001c0001t0007g0037	7	416	0.0168	40	c.151 others(55): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp2 HG02258.hp2 others(4): Show HG01934.hp1 HG01934.hp2 HG02258.hp2 HG02738.hp1 HG03139.hp2 NA19070.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0295 others(4): Show a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0295 a0001c0001t0002g0342 a0001c0001t0005g0318 a0001c0001t0006g0022 a0001c0001t0006g0039	7	404	0.0173	40	c.194 others(55): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDON_chr11_125951821_126067866	125974378	A A	AAGGGAGG others(33): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0005 a0001c0024t0005	a0001c0024t0005g0216 a0001c0024t0005g0216	1	334	0.0030	40	c.335 others(59): Show c.3356+3925_3356+3926insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125974402	G G	GAGGGAGG others(33): Show GAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01891.hp1 HG02559.hp1 others(3): Show HG01257.hp1 HG01891.hp1 HG02559.hp1 HG02572.hp2 HG03130.hp1 HG03139.hp2	a0002 a0006 a0009 others(1): Show a0002 a0006 a0009 a0018	a0002c0019 a0006c0011 a0009c0025 others(1): Show a0002c0019 a0006c0011 a0009c0025 a0018c0052	a0002c0019t0012 a0006c0011t0006 a0009c0025t0023 others(1): Show a0002c0019t0012 a0006c0011t0006 a0009c0025t0023 a0018c0052t0011	a0002c0019t0012g0128 a0006c0011t0006g0264 a0009c0025t0023g0276 others(3): Show a0002c0019t0012g0128 a0006c0011t0006g0264 a0009c0025t0023g0276 a0009c0025t0023g0277 a0009c0025t0023g0279 a0018c0052t0011g0257	6	334	0.0180	40	c.335 others(59): Show c.3356+3901_3356+3902insTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18950.hp2 NA19240.hp1 HG03831.hp2 NA18950.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0090 a0001c0001t0001g0157 a0001c0001t0004g0258 a0001c0001t0001g0090 a0001c0001t0001g0157 a0001c0001t0004g0258	3	384	0.0078	40	c.810 others(55): Show c.810+277_810+278insGCCTGCCTGCCTGCCTTCCTTCCTTCCTTC CTTCCTTCCT	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02976.hp1 HG04199.hp2 others(1): Show HG02015.hp1 HG02976.hp1 HG04199.hp2 NA18975.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0003c0006t0001 a0001c0001t0001 a0001c0001t0004 a0003c0006t0001	a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0004g0356 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0004g0356 a0003c0006t0001g0129	4	384	0.0104	40	c.810 others(55): Show c.810+277_810+278insGCCTGCCTGCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDT1_chr16_88798789_88814258	88803630	G G	GGCGCATG others(33): Show GGCGCATGCGCGCGGCCAAGCCGGTGCCCGCGCCCACCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03710.hp1 HG04204.hp2 HG03239.hp1 HG03710.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0007 a0002c0002t0001 a0001c0007t0007 a0002c0002t0001	a0001c0007t0007g0006 a0002c0002t0001g0001 a0002c0002t0001g0023 a0001c0007t0007g0006 a0002c0002t0001g0001 a0002c0002t0001g0023	3	444	0.0068	40	c.-20 others(49): Show c.-202_-201insGCGCATGCGCGCGGCCAAGCCGGTGCCCGCGCCCAC CAGC	CDT1	ENSG00000167513.9	transcript	ENST00000301019.9	protein_coding		158		chr16	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0117 a0001c0001t0005g0117	1	386	0.0026	40	c.317 others(57): Show c.317+1749_317+1750insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEACAM1_chr19_42502306_42533481	42513915	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp2 HG02145.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0159 a0002c0003t0002g0177 a0002c0003t0002g0159 a0002c0003t0002g0177	2	290	0.0069	40	c.124 others(59): Show c.1247-1437_1247-1436insTTATTTATATATATATATATATATAT ATATATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518079	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18957.hp1 HG02717.hp2 NA18957.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0204 a0006c0009t0001g0392 a0001c0001t0001g0204 a0006c0009t0001g0392	2	438	0.0046	40	c.103 others(57): Show c.1031-856_1031-855insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11			chr19	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(33): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	340	0.0029	40	c.72- others(53): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG02523.hp2 others(6): Show HG00741.hp1 HG00741.hp2 HG02523.hp2 HG02698.hp1 HG06807.hp1 NA18975.hp1 NA19005.hp2 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0002t0004 a0001c0003t0016 a0001c0005t0052 a0001c0009t0006 a0001c0010t0015	a0001c0001t0001g0183 a0001c0001t0013g0083 a0001c0002t0001g0160 others(6): Show a0001c0001t0001g0183 a0001c0001t0013g0083 a0001c0002t0001g0160 a0001c0002t0001g0176 a0001c0002t0004g0147 a0001c0003t0016g0070 a0001c0005t0052g0144 a0001c0009t0006g0125 a0001c0010t0015g0159	9	194	0.0464	40	c.272 others(59): Show c.272-20365_272-20364insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197052	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	194	0.0052	40	c.272 others(59): Show c.272-20365_272-20364insGAAAGAAAGAAAGAAGGAAAGAAAGA AAGAAGGAAAGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3299509	C C	CTTCTTCT others(33): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	262	0.0038	40	c.27 others(51): Show c.2792_*2793insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2434		chr19	TogoVar
CELSR3_chr3_48631463_48667886	48636070	G G	GGTCAGTG others(33): Show GGTCAGTGCTGTTGGGTGGGCGTCAGTGCTGTTGGGTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0049 a0012c0018t0001g0049	1	206	0.0049	40	c.21 others(51): Show c.2134_*2135insGCCCACCCAACAGCACTGACGCCCACCCAACAGC ACTGAC	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding		392		chr3	TogoVar
CEMIP2_chr9_71678366_71773513	71715625	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0173 a0004c0003t0001g0173	1	320	0.0031	40	c.243 others(57): Show c.2436-537_2436-536insATATATATATATATATATATATATATAT ATATATATATAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	14/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728261	G G	GTATATAT others(33): Show GTATATATATATATACGTATATATATATATATACGTATATA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	320	0.0031	40	c.204 others(59): Show c.2049+1583_2049+1584insTATATACGTATATATATATATATACG TATATATATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728287	A A	ACACGTAT others(33): Show ACACGTATATATATATATATGTATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19087.hp1 HG02132.hp2 NA19087.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0006c0006t0004 a0001c0001t0002 a0006c0006t0004	a0001c0001t0002g0316 a0006c0006t0004g0298 a0001c0001t0002g0316 a0006c0006t0004g0298	2	320	0.0063	40	c.204 others(59): Show c.2049+1557_2049+1558insCGTATATATATATATATATACATATA TATATATATACGTG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71756212	T T	TAGATAGA others(33): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGACAGAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0048 a0005c0017t0048	a0005c0017t0048g0292 a0005c0017t0048g0292	1	320	0.0031	40	c.-12 others(57): Show c.-12-5828_-12-5827insGTCTGTCTATCTATCTATCTATCTATCT ATCTATCTATCT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CENPJ_chr13_24877279_24927861	24881881	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0012 a0009c0013t0012	a0009c0013t0012g0062 a0009c0013t0012g0062	1	440	0.0023	40	c.12 others(51): Show c.1295_*1296insATAGATGTATCTATATATCTATATAGATGTATCT ATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		397		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881903	G G	GATATATA others(33): Show GATATATAGATACCTCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA18959.hp2 NA19091.hp1 HG02040.hp2 NA18959.hp2 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0107 a0002c0003t0003g0119 a0002c0003t0003g0120 a0002c0003t0003g0107 a0002c0003t0003g0119 a0002c0003t0003g0120	3	440	0.0068	40	c.12 others(51): Show c.1273_*1274insATAGATGTATCTATATATCTATATAGAGGTATCT ATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		375		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882049	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0140 a0001c0001t0008g0140	1	440	0.0023	40	c.11 others(51): Show c.1127_*1128insATAGATGTATCTATATATCTATATAGATGTATCT ATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		229		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882089	T T	TATAGATA others(33): Show TATAGATACATCTATATAGATATATAGATACATCTATGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	440	0.0023	40	c.10 others(51): Show c.1087_*1088insCTACATAGATGTATCTATATATCTATATAGATGT ATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		189		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882089	T T	TATAGATA others(33): Show TATAGATATATAGATACATCTATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01361.hp2 HG02280.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp2 HG03490.hp1 HG03710.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0022 a0002c0003 others(1): Show a0001c0001 a0001c0022 a0002c0003 a0016c0024	a0001c0001t0004 a0001c0022t0004 a0002c0003t0009 others(1): Show a0001c0001t0004 a0001c0022t0004 a0002c0003t0009 a0016c0024t0004	a0001c0001t0004g0043 a0001c0001t0004g0133 a0001c0001t0004g0137 others(7): Show a0001c0001t0004g0043 a0001c0001t0004g0133 a0001c0001t0004g0137 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0154 a0001c0022t0004g0148 a0002c0003t0009g0074 a0002c0003t0009g0075 a0016c0024t0004g0151	10	440	0.0227	40	c.10 others(51): Show c.1087_*1088insCTATATAGATGTATCTATATAGATGTATCTATAT ATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		189		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882133	G G	GATACATC others(33): Show GATACATCTATATAGATATATAGATACATCTATGTAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18967.hp1 NA18978.hp2 others(5): Show NA18960.hp2 NA18967.hp1 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA18986.hp1 NA19000.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0132 others(5): Show a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146	8	440	0.0182	40	c.10 others(51): Show c.1043_*1044insATATCTACATAGATGTATCTATATATCTATATAG ATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		145		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882133	G G	GATATATA others(33): Show GATATATAGATACATCTATATATATAGATACATCTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG01123.hp2 others(11): Show HG00280.hp1 HG00408.hp1 HG01123.hp2 HG02027.hp1 HG02523.hp2 HG02698.hp1 HG03017.hp2 HG03688.hp1 HG03704.hp1 NA18946.hp1 NA18948.hp2 NA18974.hp2 NA18990.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0002 a0001c0001t0002 a0001c0016t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0050 others(7): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0050 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0016t0002g0049	14	440	0.0318	40	c.10 others(51): Show c.1043_*1044insATATATAGATGTATCTATATATATAGATGTATCT ATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		145		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882169	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0015 a0006c0009t0015	a0006c0009t0015g0238 a0006c0009t0015g0238	1	440	0.0023	40	c.10 others(51): Show c.1007_*1008insATATCTATATAGATGTATCTATATAGATGTATCT ATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		109		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882233	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02615.hp2 HG03927.hp2 HG01934.hp2 HG02615.hp2 HG03927.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0007 a0004c0006t0004 a0001c0002t0007 a0004c0006t0004	a0001c0002t0007g0228 a0001c0002t0007g0236 a0004c0006t0004g0007 a0001c0002t0007g0228 a0001c0002t0007g0236 a0004c0006t0004g0007	3	440	0.0068	40	c.94 others(49): Show c.943_*944insATAGATGTATCTATATATCTATATAGATGTATCTAT ATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		45		chr13	TogoVar
CENPN_chr16_81002214_81036485	81026089	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTATATATATATGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0044 a0002c0001t0044	a0002c0001t0044g0175 a0002c0001t0044g0175	1	398	0.0025	40	c.698 others(55): Show c.698-436_698-435insGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATAT	CENPN	ENSG00000166451.14	transcript	ENST00000305850.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(33): Show GTGTGTGTATACATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0215 a0001c0001t0043g0215	1	260	0.0039	40	c.467 others(57): Show c.467+6719_467+6720insGTGTGTATACATATATATATATATATAT ATATATATATAT	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(33): Show GTGTGTGTGTGTGTATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	1	260	0.0039	40	c.467 others(57): Show c.467+6719_467+6720insGTGTGTGTGTGTATACATATATATATAT ATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567369	G G	GATAGATA others(33): Show GATAGATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18972.hp1 HG02055.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0101 a0001c0001t0002g0089 a0001c0001t0002g0101	2	260	0.0077	40	c.565 others(59): Show c.565-43918_565-43917insTATATATATATATATAGATATATATA TATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0087 a0001c0001t0013g0087	1	260	0.0039	40	c.565 others(59): Show c.565-43918_565-43917insTATATAGATAGATAGATATATATATA TATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(33): Show GATATATATATATCTATATATATATATATATATATAGATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0114 a0001c0001t0013g0114	1	260	0.0039	40	c.565 others(59): Show c.565-43929_565-43928insCTATATATATATATATATATATAGAT ATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP112_chr17_65630537_66197133	65937429	G G	GCCCTGTC others(33): Show GCCCTGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02027.hp2 HG02280.hp1 others(4): Show HG01346.hp2 HG02027.hp2 HG02280.hp1 HG02572.hp2 HG03688.hp2 HG03831.hp2 NA18985.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0006 a0001c0003 a0003c0006	a0001c0003t0001 a0001c0003t0002 a0003c0006t0002 a0001c0003t0001 a0001c0003t0002 a0003c0006t0002	a0001c0003t0001g0006 a0001c0003t0001g0033 a0001c0003t0001g0062 others(4): Show a0001c0003t0001g0006 a0001c0003t0001g0033 a0001c0003t0001g0062 a0001c0003t0001g0074 a0001c0003t0002g0109 a0001c0003t0002g0112 a0003c0006t0002g0110	7	112	0.0625	40	c.187 others(59): Show c.1873-9741_1873-9740insTCGCGGCCGGGCAGAGGCGCTCCTCA CATCCCAGACAGGG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP128_chr14_80491479_80946738	80561896	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	164	0.0061	40	c.285 others(59): Show c.2857-2595_2857-2594insTATATATATATATATATATATATATA TATATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	20/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678045	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0082 a0002c0002t0004g0082	1	164	0.0061	40	c.280 others(61): Show c.2806+65029_2806+65030insATATATACATATATATATATATAT ATATATATATATATAT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp2 HG02109.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0161 a0001c0001t0004g0162	2	164	0.0122	40	c.280 others(61): Show c.2806+65025_2806+65026insATATATATATATACATATATATAT ATATATATATATATTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP170B_chr14_104860268_104901747	104890719	T T	TGGGTGGG others(33): Show TGGGTGGGTGGATGGATGATGGATGGATGGATGGATGAGTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0025 a0025	a0025c0085 a0025c0085	a0025c0085t0002 a0025c0085t0002	a0025c0085t0002g0223 a0025c0085t0002g0223	1	328	0.0031	40	c.387 others(57): Show c.3878+963_3878+964insGTGGGTGGATGGATGATGGATGGATGGA TGGATGAGTGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170_chr1_243119428_243260281	243226058	G G	GATATAGA others(33): Show GATATAGATATATCTATATCTAGATATAAATATATCTAGAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG03453.hp1 HG02109.hp1 HG02280.hp1 HG03453.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0002 a0006c0008t0002 a0001c0001t0002 a0006c0008t0002	a0001c0001t0002g0105 a0006c0008t0002g0101 a0006c0008t0002g0102 a0001c0001t0002g0105 a0006c0008t0002g0101 a0006c0008t0002g0102	3	303	0.0099	40	c.-41 others(55): Show c.-41-738_-41-737insATCTAGATATATTTATATCTAGATATAGAT ATATCTATAT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243226058	G G	GATATATA others(33): Show GATATATATATATCTATATCTAGATATAAATATATCTAGAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02451.hp1 HG02615.hp2 others(9): Show HG01106.hp1 HG02451.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0003 others(1): Show a0001c0001 a0001c0007 a0003c0003 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0007t0001 a0003c0003t0003 a0003c0009t0003	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0106 others(9): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0002g0009 a0001c0001t0002g0095 a0001c0001t0008g0104 a0001c0007t0001g0099 a0001c0007t0001g0100 a0003c0003t0003g0103 a0003c0003t0003g0107 a0003c0009t0003g0108	12	303	0.0396	40	c.-41 others(55): Show c.-41-738_-41-737insATCTAGATATATTTATATCTAGATATAGAT ATATATATAT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATATATAT others(33): Show ATATATATGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01071.hp2 others(4): Show HG00323.hp2 HG01069.hp1 HG01071.hp2 HG01515.hp2 HG01517.hp1 HG02735.hp2 HG04115.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0050 a0003c0003t0002g0005 a0003c0003t0002g0123 a0001c0001t0002g0050 a0003c0003t0002g0005 a0003c0003t0002g0123	7	430	0.0163	40	c.-10 others(51): Show c.-1057_-1056insCACACACACACACACACACACACACACATACACA TATATA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(33): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02572.hp1 HG02723.hp2 others(4): Show HG01123.hp2 HG02572.hp1 HG02723.hp2 HG02976.hp2 HG03490.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0202 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0202 a0001c0001t0002g0002 a0001c0001t0002g0019	7	430	0.0163	40	c.-10 others(51): Show c.-1057_-1056insCACACACACACACACACACACACACACACACACA CACACA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP44_chr4_174278911_174325328	174295150	T T	TGGGGTGG others(33): Show TGGGGTGGCTGCCGGGCAGAGACGCTCCTCACTTCCCAGAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0174 a0002c0002t0005g0174	1	388	0.0026	40	c.-14 others(59): Show c.-147-2799_-147-2760dupAGAGACGCTCCTCACTTCCCAGACGG GGTGGCTGCCGGGC	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03831.hp2 HG01884.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0243 a0002c0002t0001g0238 a0002c0002t0001g0243	2	322	0.0062	40	c.555 others(57): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT ATATATGTATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	322	0.0031	40	c.555 others(57): Show c.555+1264_555+1265insATATATATATATATATATATATATATGT ATATATATATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP72_chr5_607340_658553	630789	C C	CCCAGTCC others(33): Show CCCAGTCCTGGTGGGGTTGCTGTCCAGTGCCGGGATTTAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0014 a0003c0005t0002g0014	1	91	0.0110	40	c.513 others(57): Show c.513-2963_513-2962insGCTGTCCAGTGCCGGGATTTAGACCAGT CCTGGTGGGGTT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP83_chr12_94302698_94464867	94443167	A A	ACAGGACC others(33): Show ACAGGACCCCTTTGCTAGAGTCAATTAAGTTTACAGACCCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01978.hp1 HG03017.hp2 others(8): Show HG01081.hp2 HG01978.hp1 HG03017.hp2 HG03831.hp1 HG04199.hp1 NA18942.hp2 NA18950.hp1 NA18951.hp1 NA18988.hp1 NA19030.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0011t0001 a0002c0002t0001	a0001c0001t0001g0058 a0001c0001t0001g0241 a0001c0001t0001g0245 others(8): Show a0001c0001t0001g0058 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0003g0347 a0001c0003t0002g0126 a0001c0011t0001g0244 a0002c0002t0001g0270 a0002c0002t0001g0310	11	364	0.0302	40	c.-15 others(59): Show c.-154-7880_-154-7841dupGGGGTCTGTAAACTTAATTGACTCTA GCAAAGGGGTCCTG	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	1/16			chr12	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0108 a0001c0009t0003g0108	1	342	0.0029	40	c.208 others(57): Show c.208+4426_208+4427insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0117 a0002c0003t0004g0117	1	298	0.0034	40	c.239 others(57): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar

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