Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CELF2_chr10_11012872_11341675	11107990	T T	TCCCCACT others(23): Show TCCCCACTCCCCACTCCCTCCCTCTTCCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0064 a0001c0003t0005g0064	1	194	0.0052	30	c.75- others(47): Show c.75-57472_75-57471insTCCCCCCCCCACTCCCCACTCCCTCCCT CT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3299515	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	262	0.0038	30	c.27 others(41): Show c.2798_*2799insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2440		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46365877	T T	TGGAAAGG others(23): Show TGGAAAGGTTGGGTGGGGGAAGGTGGTGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0079 a0001c0028t0001g0079	1	104	0.0096	30	c.830 others(47): Show c.8301-218_8301-189dupCCCCACCACCTTCCCCCACCCAACCTTT CC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46426129	T T	TGGGGAGG others(23): Show TGGGGAGGGCGCAGCCGGGGAGGGCGCAGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03579.hp2 NA20129.hp2 HG02818.hp2 HG03579.hp2 NA20129.hp2	a0003 a0017 a0040 a0003 a0017 a0040	a0003c0015 a0017c0020 a0040c0067 a0003c0015 a0017c0020 a0040c0067	a0003c0015t0001 a0017c0020t0002 a0040c0067t0009 a0003c0015t0001 a0017c0020t0002 a0040c0067t0009	a0003c0015t0001g0022 a0017c0020t0002g0020 a0040c0067t0009g0104 a0003c0015t0001g0022 a0017c0020t0002g0020 a0040c0067t0009g0104	3	104	0.0289	30	c.461 others(49): Show c.4611+7263_4611+7264insGGCTGCGCCCTCCCCGGCTGCGCCCT CCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46487871	G G	GGGGAGGG others(23): Show GGGGAGGGGTGTCCAGCTGATGGGGGTATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	104	0.0096	30	c.354 others(51): Show c.3545-23556_3545-23527dupATATACCCCCATCAGCTGGACACC CCTCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71728263	A A	ATATATAT others(23): Show ATATATATATATACGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	320	0.0031	30	c.204 others(49): Show c.2049+1581_2049+1582insCGTATATATATATATACGTATATATA TATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728263	A A	ATATATAT others(23): Show ATATATATATATACGTGTATATATATATACG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0033 a0001c0001t0040g0033	1	320	0.0031	30	c.204 others(49): Show c.2049+1581_2049+1582insCGTATATATATATACACGTATATATA TATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728265	A A	ATATATAT others(23): Show ATATATATATACGTATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0017 a0017	a0017c0032 a0017c0032	a0017c0032t0006 a0017c0032t0006	a0017c0032t0006g0129 a0017c0032t0006g0129	1	320	0.0031	30	c.204 others(49): Show c.2049+1579_2049+1580insCACGTATATATATATATACGTATATA TATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728269	A A	ATATATAT others(23): Show ATATATATACACGTATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02148.hp2 NA18977.hp2 others(5): Show HG01981.hp1 HG02148.hp2 NA18977.hp2 NA18989.hp2 NA18992.hp1 NA19001.hp1 NA19057.hp2 NA19068.hp2	a0002 a0007 a0010 a0002 a0007 a0010	a0002c0002 a0007c0010 a0010c0020 a0002c0002 a0007c0010 a0010c0020	a0002c0002t0001 a0002c0002t0010 a0002c0002t0017 others(3): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0017 a0002c0002t0021 a0007c0010t0004 a0010c0020t0012	a0002c0002t0001g0064 a0002c0002t0001g0074 a0002c0002t0010g0073 others(5): Show a0002c0002t0001g0064 a0002c0002t0001g0074 a0002c0002t0010g0073 a0002c0002t0017g0042 a0002c0002t0021g0063 a0007c0010t0004g0035 a0007c0010t0004g0036 a0010c0020t0012g0051	8	320	0.0250	30	c.204 others(49): Show c.2049+1575_2049+1576insCGTGTATATATATATATACGTGTATA TATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CENPE_chr4_103100811_103203343	103132960	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02056.hp1 HG02630.hp2 others(5): Show HG01891.hp2 HG02056.hp1 HG02630.hp2 HG02922.hp1 HG04228.hp1 NA18940.hp1 NA18986.hp1 NA18999.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0003 a0008c0009 a0002c0002 a0003c0003 a0008c0009	a0002c0002t0001 a0003c0003t0001 a0008c0009t0001 a0002c0002t0001 a0003c0003t0001 a0008c0009t0001	a0002c0002t0001g0005 a0002c0002t0001g0020 a0002c0002t0001g0027 others(4): Show a0002c0002t0001g0005 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0030 a0003c0003t0001g0127 a0008c0009t0001g0143 a0008c0009t0001g0144	8	320	0.0250	30	c.672 others(45): Show c.6721-65_6721-64insTATATATATATATATATATATATATATATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPI_chrX_101093204_101171126	101162473	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0011 a0001c0002t0005g0011	1	282	0.0036	30	c.213 others(47): Show c.2137-341_2137-340insTATATATATATATATATATATATATATA TA	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	21/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPJ_chr13_24877279_24927861	24882183	T T	TATAGATA others(23): Show TATAGATAGATATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0280 a0001c0001t0006g0280	1	440	0.0023	30	c.99 others(39): Show c.993_*994insCTATATAGATGTATCTATATATCTATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		95		chr13	TogoVar
CENPO_chr2_24788425_24827376	24817466	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0060 a0002c0002t0008g0060	1	382	0.0026	30	c.767 others(45): Show c.767-194_767-193insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CENPP_chr9_92320953_92625529	92352501	G G	GTATACAT others(23): Show GTATACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	260	0.0039	30	c.467 others(47): Show c.467+6715_467+6716insATACATATATATATATATATATATATAT AT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTATATAC others(23): Show GTATATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0040 a0001c0001t0015g0040	1	260	0.0039	30	c.467 others(47): Show c.467+6722_467+6723insTACATATATATATATATATATATATATA TA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTATAC others(23): Show GTGTATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03942.hp1 HG02818.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0040 a0002c0002t0012 a0001c0001t0040 a0002c0002t0012	a0001c0001t0040g0234 a0002c0002t0012g0129 a0001c0001t0040g0234 a0002c0002t0012g0129	2	260	0.0077	30	c.467 others(47): Show c.467+6719_467+6720insGTATACATATATATATATATATATATAT AT	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(23): Show GTGTGTGTATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03225.hp2 HG03516.hp2 others(1): Show HG02109.hp1 HG03225.hp2 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0128 a0001c0001t0006g0208 a0001c0001t0006g0214 others(1): Show a0001c0001t0006g0128 a0001c0001t0006g0208 a0001c0001t0006g0214 a0001c0001t0007g0186	4	260	0.0154	30	c.467 others(47): Show c.467+6719_467+6720insGTGTGTATACATATATATATATATATAT AT	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(23): Show GTGTGTGTGTATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	260	0.0039	30	c.467 others(47): Show c.467+6719_467+6720insGTGTGTGTATACATATATATATATATAT AT	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(23): Show GTGTGTGTGTGTGTATACATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	260	0.0039	30	c.467 others(47): Show c.467+6719_467+6720insGTGTGTGTGTGTATACATATATATATAT AT	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(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02735.hp2 HG02698.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0190 a0001c0001t0007g0193 a0001c0001t0007g0190 a0001c0001t0007g0193	2	260	0.0077	30	c.467 others(47): Show c.467+6752_467+6753insTATATATATATATATATATATATATATA TA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92532015	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	260	0.0039	30	c.565 others(49): Show c.565-79286_565-79285insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	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(23): Show GATATATATATATATATATATATATATAGAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	260	0.0039	30	c.565 others(49): Show c.565-43918_565-43917insTATAGATATATATATATATATATATA TATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPVL3_chrX_51612020_51623912	51621503	A A	ATTCTTCT others(23): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	298	0.0034	30	c.-26 others(41): Show c.-2631_-2630insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2592		chrX	TogoVar
CEP112_chr17_65630537_66197133	65970385	A A	ATATATTA others(23): Show ATATATTACATGCATGCACACATCATGCATG	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18985.hp1 HG01517.hp2 NA18985.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0049 a0002c0001t0001g0104 a0002c0001t0001g0049 a0002c0001t0001g0104	2	112	0.0179	30	c.173 others(49): Show c.1737-8817_1737-8788dupCATGCATGATGTGTGCATGCATGTAA TATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66192041	A A	ACGCCGCC others(23): Show ACGCCGCCGCCGCCGCCGCCAACGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0003 a0001c0003t0006g0003	1	112	0.0089	30	c.-54 others(37): Show c.-54_-53insGCGGCGGCGTTGGCGGCGGCGGCGGCGGCG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	1/27	8743		chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03704.hp2 NA18984.hp2 others(2): Show HG01109.hp2 HG03704.hp2 NA18984.hp2 NA19007.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0057 a0001c0001t0002 a0001c0001t0004 a0001c0001t0057	a0001c0001t0002g0220 a0001c0001t0002g0255 a0001c0001t0004g0191 others(2): Show a0001c0001t0002g0220 a0001c0001t0002g0255 a0001c0001t0004g0191 a0001c0001t0004g0251 a0001c0001t0057g0187	5	336	0.0149	30	c.249 others(47): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP162_chr6_84119250_84232643	84194400	T T	TTTGGCTC others(23): Show TTTGGCTCTAATTTTATAGTTAAACCAAGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01257.hp2 others(11): Show HG01074.hp2 HG01243.hp2 HG01257.hp2 HG01928.hp2 HG01981.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp1 HG02886.hp1 HG03492.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0003c0021 a0011c0018 a0003c0003 a0003c0021 a0011c0018	a0003c0003t0001 a0003c0003t0003 a0003c0021t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0021t0003 a0011c0018t0003	a0003c0003t0001g0043 a0003c0003t0003g0040 a0003c0003t0003g0041 others(11): Show a0003c0003t0001g0043 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0090 a0003c0003t0003g0091 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0021t0003g0049 a0011c0018t0003g0039	14	214	0.0654	30	c.102 others(47): Show c.1027+454_1027+483dupCCCTTGGTTTAACTATAAAATTAGAGCC AA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	10/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03710.hp1 NA18956.hp1 HG00597.hp2 HG03710.hp1 NA18956.hp1	a0006 a0010 a0006 a0010	a0006c0007 a0010c0012 a0006c0007 a0010c0012	a0006c0007t0006 a0010c0012t0006 a0006c0007t0006 a0010c0012t0006	a0006c0007t0006g0265 a0006c0007t0006g0270 a0010c0012t0006g0266 a0006c0007t0006g0265 a0006c0007t0006g0270 a0010c0012t0006g0266	3	390	0.0077	30	c.-21 others(47): Show c.-21-1042_-21-1041insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	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(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp1 HG02155.hp1 others(2): Show HG00597.hp2 HG01099.hp1 HG02155.hp1 HG03225.hp1 NA19012.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0017 a0001c0001 a0009c0017	a0001c0001t0001 a0001c0001t0009 a0009c0017t0007 a0001c0001t0001 a0001c0001t0009 a0009c0017t0007	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0009g0057 a0009c0017t0007g0037	5	303	0.0165	30	c.367 others(49): Show c.3677-3338_3677-3309dupCACACACACACACACACACACACACA CACA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243226187	A A	ATATATAC others(23): Show ATATATACCTATATATCTAGATATATATGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	303	0.0033	30	c.-41 others(45): Show c.-41-867_-41-866insGGCATATATATCTAGATATATAGGTATATA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01256.hp2 others(4): Show HG00735.hp2 HG00738.hp1 HG01256.hp2 HG02257.hp1 HG02630.hp1 NA19012.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0002 a0001c0001t0002 a0005c0006t0002	a0001c0001t0002g0002 a0001c0001t0002g0059 a0001c0001t0002g0086 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0059 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0112 a0005c0006t0002g0124	7	430	0.0163	30	c.-10 others(41): Show c.-1057_-1056insCACACACACACACACACACACACACACACA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0184 a0001c0001t0184	a0001c0001t0184g0004 a0001c0001t0184g0004	1	376	0.0027	30	c.28 others(41): Show c.2861_*2862insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	2862	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174320698	G G	GTGTGTGT others(23): Show GTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(121): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18954.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19059.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0026 a0001c0001t0031 a0002c0008t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0008g0021 a0001c0001t0008g0106 a0001c0001t0008g0112 a0001c0001t0008g0114 a0001c0001t0014g0025 a0001c0001t0014g0064 a0001c0001t0016g0025 a0001c0001t0016g0158 a0001c0001t0026g0126 a0001c0001t0031g0003 a0002c0008t0004g0063	124	388	0.3196	30	c.33 others(41): Show c.3315_*3316insTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding		371		chr4	TogoVar
CEP63_chr3_134481057_134570031	134538529	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0291 a0002c0002t0001g0291	1	322	0.0031	30	c.555 others(47): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT GT	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(23): Show GTATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18998.hp1 NA18950.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0233 a0002c0002t0001g0234	2	322	0.0062	30	c.555 others(47): Show c.555+1264_555+1265insATATATATATATATATATATATATATGT AT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP85L_chr6_118455772_118656591	118496356	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03209.hp1 HG03225.hp2 others(1): Show HG01175.hp1 HG03209.hp1 HG03225.hp2 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0240 a0002c0002t0002g0258 others(1): Show a0002c0002t0002g0197 a0002c0002t0002g0240 a0002c0002t0002g0258 a0002c0002t0002g0278	4	302	0.0133	30	c.125 others(49): Show c.1258-4521_1258-4492dupTAAAATAAAATAAAATAAAATAAAAT AAAA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0205	1	302	0.0033	30	c.232 others(49): Show c.232+32152_232+32153insACCCCCCCCCCCCCCCCCCCCCCCCC CCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	342	0.0029	30	c.208 others(47): Show c.208+4426_208+4427insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	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(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp1 HG02083.hp2 others(2): Show HG00438.hp2 HG02074.hp1 HG02083.hp2 HG02922.hp1 NA18991.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0004 a0002c0004t0004 a0002c0003t0001 a0002c0003t0004 a0002c0004t0004	a0002c0003t0001g0134 a0002c0003t0004g0118 a0002c0004t0004g0201 others(2): Show a0002c0003t0001g0134 a0002c0003t0004g0118 a0002c0004t0004g0201 a0002c0004t0004g0260 a0002c0004t0004g0264	5	298	0.0168	30	c.239 others(47): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02965.hp2 HG01361.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0004 a0001c0001t0002 a0001c0008t0004	a0001c0001t0002g0355 a0001c0008t0004g0357 a0001c0001t0002g0355 a0001c0008t0004g0357	2	418	0.0048	30	c.-1- others(47): Show c.-1-19203_-1-19202insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8266863	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02074.hp1 HG01978.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0289 a0001c0001t0002g0139 a0001c0001t0002g0289	2	418	0.0048	30	c.47 others(41): Show c.4754_*4755insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0086 a0001c0002t0005g0086	1	418	0.0024	30	c.51 others(41): Show c.5185_*5186insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0094 a0001c0001t0004g0095	2	320	0.0063	30	c.197 others(49): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0080 a0002c0003t0003g0080	1	320	0.0031	30	c.197 others(49): Show c.197+10663_197+10664insTTATATATATATATATATATATATAT ATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168486518	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18945.hp1 HG02523.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0002g0151 a0001c0001t0001g0153 a0001c0001t0002g0151	2	176	0.0114	30	c.170 others(49): Show c.170+29900_170+29901insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG03704.hp2 others(1): Show HG00558.hp2 HG01099.hp1 HG03704.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016	a0001c0001t0004g0155 a0001c0001t0005g0093 a0001c0001t0005g0117 others(1): Show a0001c0001t0004g0155 a0001c0001t0005g0093 a0001c0001t0005g0117 a0001c0001t0016g0066	4	176	0.0227	30	c.277 others(47): Show c.277-1459_277-1458insTATATATATATATATATATATATATATA TA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168631607	A A	ATATATTT others(23): Show ATATATTTAATATTTATATATTAAATATAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00609.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0159 a0001c0001t0001g0160	2	176	0.0114	30	c.465 others(45): Show c.465+565_465+566insTATATTTAATATTTATATATTAAATATAAT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9			chr2	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02572.hp1 HG03654.hp1 HG01257.hp1 HG02572.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0317 a0001c0001t0002g0194 a0001c0001t0017g0253 a0001c0001t0001g0317 a0001c0001t0002g0194 a0001c0001t0017g0253	3	336	0.0089	30	c.118 others(49): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CETN1_chr18_575380_587114	576446	G G	GGAAGGAA others(23): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA18995.hp2 NA19077.hp1 others(1): Show HG00408.hp2 NA18995.hp2 NA19077.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0002g0000 a0001c0001t0006g0000	4	422	0.0095	30	c.-39 others(41): Show c.-3963_-3962insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3933		chr18	TogoVar
CFAP141_chr1_154194085_154211333	154203172	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	372	0.0027	30	c.74+ others(45): Show c.74+2396_74+2425dupATATATATATATATATATATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar

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