Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18951.hp2 NA18969.hp2 others(6): Show NA18947.hp1 NA18951.hp2 NA18969.hp2 NA19003.hp1 NA19065.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	410	0.0220	27	c.-18 others(38): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDNF_chr10_14814245_14843037	14826014	C C	CAGAAGCA others(20): Show CAGAAGCAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	418	0.0024	27	c.244 others(42): Show c.244-395_244-394insCCTTCTCCTTCTCCTTCTTCTGCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01515.hp2 HG02004.hp2 others(2): Show HG00735.hp1 HG01515.hp2 HG02004.hp2 HG03710.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0131 a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0131	5	430	0.0116	27	c.20 others(38): Show c.2024_*2025insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding		266		chr17	TogoVar
CDV3_chr3_133568686_133595261	133594433	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG04184.hp2 HG01358.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0050 a0001c0001t0001g0147	2	386	0.0052	27	c.63 others(38): Show c.6387_*6388insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4173		chr3	TogoVar
CDYL2_chr16_80592907_80809598	80759118	A A	ATATATAT others(20): Show ATATATATATATATATATATATATGGTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG06807.hp2 NA19002.hp1 HG03942.hp2 HG06807.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0060 a0001c0004t0009 a0001c0001t0002 a0001c0001t0060 a0001c0004t0009	a0001c0001t0002g0020 a0001c0001t0060g0039 a0001c0004t0009g0038 a0001c0001t0002g0020 a0001c0001t0060g0039 a0001c0004t0009g0038	3	258	0.0116	27	c.24+ others(44): Show c.24+45031_24+45032insAACCATATATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CEACAM19_chr19_44666482_44689355	44666952	C C	CTCCAGGG others(20): Show CTCCAGGGGAGGAGGCTGAGGCCCAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	390	0.0026	27	c.-49 others(38): Show c.-4980_-4979insTCCAGGGGAGGAGGCTGAGGCCCAGAG	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		4529		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44667786	A A	ATATATAT others(20): Show ATATATATAAATTATATAATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01361.hp1 NA18984.hp1 others(2): Show HG01358.hp2 HG01361.hp1 NA18984.hp1 NA19006.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0008 a0001c0001t0001 a0001c0005t0008	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0136 a0001c0005t0008g0035	5	390	0.0128	27	c.-41 others(38): Show c.-4146_-4145insTATATATAAATTATATAATTTATATAT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3695		chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581920	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	314	0.0032	27	c.41 others(42): Show c.41-568_*41-567insATATATATATATATATATATATATTTT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581920	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG02486.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	314	0.0064	27	c.41 others(42): Show c.41-568_*41-567insATATATATATATATATATATATATATT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37193643	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0009	1	466	0.0022	27	c.-28 others(38): Show c.-2879_-2878insAGAAGAAGAAGAAGAAGAAGAAGAAGG	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding		2852		chr2	TogoVar
CECR2_chr22_17364460_17563151	17404364	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0050 a0014c0021t0050	a0014c0021t0050g0005 a0014c0021t0050g0005	1	324	0.0031	27	c.126 others(46): Show c.126+34458_126+34459insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524387	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03453.hp1 HG03579.hp1 HG02602.hp1 HG03453.hp1 HG03579.hp1	a0004 a0009 a0004 a0009	a0004c0004 a0009c0026 a0004c0004 a0009c0026	a0004c0004t0012 a0004c0004t0026 a0009c0026t0013 a0004c0004t0012 a0004c0004t0026 a0009c0026t0013	a0004c0004t0012g0144 a0004c0004t0026g0284 a0009c0026t0013g0072 a0004c0004t0012g0144 a0004c0004t0026g0284 a0009c0026t0013g0072	3	324	0.0093	27	c.110 others(44): Show c.1108+139_1108+140insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	194	0.0052	27	c.272 others(46): Show c.272-20398_272-20397insGAAAGAAAGAAAGAAAGAAGGAAAGA A	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197026	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG03579.hp1 HG02809.hp1 HG02965.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0021 a0001c0002t0009 a0001c0001t0019 a0001c0001t0021 a0001c0002t0009	a0001c0001t0019g0047 a0001c0001t0021g0076 a0001c0002t0009g0148 a0001c0001t0019g0047 a0001c0001t0021g0076 a0001c0002t0009g0148	3	194	0.0155	27	c.272 others(46): Show c.272-20398_272-20397insGGAAGGAAGGAAGGAAGGAAGGAAGG A	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3299515	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	262	0.0038	27	c.27 others(38): Show c.2798_*2799insTCTTCTTCTTCTTCTTCTTCTTCTTCT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2440		chr19	TogoVar
CELF6_chr15_72279727_72325157	72314589	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03195.hp1 HG02895.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0156 a0001c0001t0002g0157	2	300	0.0067	27	c.345 others(44): Show c.345+1255_345+1256insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CELF6	ENSG00000140488.16	transcript	ENST00000287202.10	protein_coding	2/12			chr15	TogoVar
CELSR1_chr22_46356174_46542620	46365985	A A	AAGGTGGT others(20): Show AAGGTGGTGGGAGGAAAGGTTGGGAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0027 a0027	a0027c0052 a0027c0052	a0027c0052t0001 a0027c0052t0001	a0027c0052t0001g0031 a0027c0052t0001g0031	1	104	0.0096	27	c.830 others(44): Show c.8301-297_8301-296insCCCTCCCAACCTTTCCTCCCACCACCT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46373650	T T	TGGGGAGA others(20): Show TGGGGAGATGGGGGAGAAGGGGGAGATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0044 a0044	a0044c0060 a0044c0060	a0044c0060t0001 a0044c0060t0001	a0044c0060t0001g0095 a0044c0060t0001g0095	1	104	0.0096	27	c.758 others(44): Show c.7585-620_7585-594dupCATCTCCCCCTTCTCCCCCATCTCCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	24/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46373676	T T	TGGGGGAG others(20): Show TGGGGGAGAAGGGGGAGATGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0040 a0040	a0040c0067 a0040c0067	a0040c0067t0009 a0040c0067t0009	a0040c0067t0009g0104 a0040c0067t0009g0104	1	104	0.0096	27	c.758 others(44): Show c.7585-620_7585-619insTTCTCCCCCATCTCCCCCTTCTCCCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	24/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46449369	C C	CCATCCAT others(20): Show CCATCCATCCATCCAACCACCCATCACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02647.hp2 others(1): Show HG02055.hp2 HG02486.hp1 HG02647.hp2 HG03579.hp2	a0001 a0013 a0040 others(1): Show a0001 a0013 a0040 a0044	a0001c0029 a0013c0010 a0040c0067 others(1): Show a0001c0029 a0013c0010 a0040c0067 a0044c0060	a0001c0029t0001 a0013c0010t0001 a0040c0067t0009 others(1): Show a0001c0029t0001 a0013c0010t0001 a0040c0067t0009 a0044c0060t0001	a0001c0029t0001g0038 a0013c0010t0001g0007 a0040c0067t0009g0104 others(1): Show a0001c0029t0001g0038 a0013c0010t0001g0007 a0040c0067t0009g0104 a0044c0060t0001g0095	4	104	0.0385	27	c.418 others(46): Show c.4184-9985_4184-9959dupTGTGATGGGTGGTTGGATGGATGGAT G	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	2/34			chr22	TogoVar
CEMIP_chr15_80774370_80956771	80900679	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0202 a0001c0003t0002g0202	1	254	0.0039	27	c.141 others(46): Show c.1411+4619_1411+4620insGTGTGTGTGTGTGTGTGTGTGTGTGT G	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29			chr15	TogoVar
CEMIP_chr15_80774370_80956771	80942080	C C	CCCCTTTG others(20): Show CCCCTTTGCCGTCCAGTCGGGCCTAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	254	0.0039	27	c.361 others(42): Show c.3612+50_3612+76dupTAGAGCCCTTTGCCGTCCAGTCGGGCC	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMP1_chr16_2525035_2536408	2533430	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18955.hp1 NA18995.hp2 NA18954.hp2 NA18955.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	348	0.0086	27	c.-23 others(38): Show c.-2358_-2357insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2023		chr16	TogoVar
CENPH_chr5_69184583_69215357	69200719	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18952.hp2 HG02572.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	388	0.0052	27	c.372 others(44): Show c.372-1779_372-1753dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPO_chr2_24788425_24827376	24817466	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03579.hp1 HG02717.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0024 a0002c0002t0008g0024	2	382	0.0052	27	c.767 others(42): Show c.767-194_767-193insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CENPP_chr9_92320953_92625529	92532015	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18995.hp1 NA18951.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0031 a0001c0001t0005g0016 a0001c0001t0005g0031	2	260	0.0077	27	c.565 others(46): Show c.565-79286_565-79285insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92552080	C C	CATATATG others(20): Show CATATATGTGATATGATAGATCTATCAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG03225.hp1 others(2): Show HG02615.hp2 HG02886.hp2 HG03225.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 others(2): Show a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243	5	260	0.0192	27	c.565 others(46): Show c.565-59149_565-59123dupTATGTGATATGATAGATCTATCATAT A	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92552080	C C	CATATATG others(20): Show CATATATGTGATATGATAGGTCTATCAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp1 HG02300.hp1 others(4): Show HG00642.hp2 HG01358.hp1 HG02300.hp1 HG03490.hp2 HG03492.hp2 HG04115.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0011 others(4): Show a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0018	7	260	0.0269	27	c.565 others(46): Show c.565-59216_565-59215insGTCTATCATATATATGTGATATGATA G	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPT_chr16_67823157_67852693	67842862	G G	GGCAGCAG others(20): Show GGCAGCAGCAGCAACAGCAGCAGCAGCA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	266	0.0038	27	c.-49 others(46): Show c.-492+4512_-492+4538dupTGCTGCTGCTGCTGTTGCTGCTGCTG C	CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding	1/15			chr16	TogoVar
CENPT_chr16_67823157_67852693	67842875	A A	ACAGCAGC others(20): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	266	0.0038	27	c.-49 others(46): Show c.-492+4525_-492+4526insCTGCTGCTGCTGCTGCTGCTGCTGCT G	CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding	1/15			chr16	TogoVar
CENPT_chr16_67823157_67852693	67842902	A A	ACAGCAGC others(20): Show ACAGCAGCAGCAGCAGCAACAGCAGCAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19085.hp1 NA19085.hp2 HG04199.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0086 a0001c0001t0001g0166 a0002c0002t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0166 a0002c0002t0001g0087	3	266	0.0113	27	c.-49 others(46): Show c.-492+4472_-492+4498dupCTGCTGCTGTTGCTGCTGCTGCTGCT G	CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding	1/15			chr16	TogoVar
CEP112_chr17_65630537_66197133	65970437	T T	TCATGCAT others(20): Show TCATGCATGTATATTACATGCATGCACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0083 a0002c0001t0001g0083	1	112	0.0089	27	c.173 others(46): Show c.1737-8866_1737-8840dupTGTGCATGCATGTAATATACATGCAT G	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02809.hp2 HG03654.hp1 others(1): Show HG02129.hp1 HG02809.hp2 HG03654.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026	a0001c0001t0002g0242 a0001c0001t0018g0272 a0001c0001t0025g0202 others(1): Show a0001c0001t0002g0242 a0001c0001t0018g0272 a0001c0001t0025g0202 a0001c0001t0026g0053	4	336	0.0119	27	c.249 others(44): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP128_chr14_80491479_80946738	80810323	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	164	0.0061	27	c.121 others(48): Show c.1210-17214_1210-17213insTTTTTTTTTTTTTTTTTTTTTTTT TTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP170B_chr14_104860268_104901747	104860525	A A	AGTACCAC others(20): Show AGTACCACCTTCCAGCGCCACCCGCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0212 a0002c0004t0002g0212	1	328	0.0031	27	c.-50 others(38): Show c.-5016_-5015insGTACCACCTTCCAGCGCCACCCGCCAT	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding		4742		chr14	TogoVar
CEP170_chr1_243119428_243260281	243159802	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	303	0.0033	27	c.367 others(46): Show c.3677-3348_3677-3347insCACACACACACACACACACACACACA C	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19			chr1	TogoVar
CEP72_chr5_607340_658553	649951	T T	TGACTGTG others(20): Show TGACTGTGAGGCGTGACTGTGAGGCGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01192.hp1 others(9): Show HG01069.hp1 HG01070.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG03688.hp2 NA18999.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0025	12	91	0.1319	27	c.177 others(46): Show c.1778+2049_1778+2050insACTGTGAGGCGTGGACTGTGAGGCGT G	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	651236	C C	CTGAGGCG others(20): Show CTGAGGCGTGGACTGTGAGGTGTGACTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01243.hp1 others(11): Show HG00735.hp1 HG01069.hp2 HG01243.hp1 HG01981.hp2 HG02015.hp1 HG02602.hp1 HG02683.hp2 HG02738.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18942.hp1 NA18982.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0002c0002t0001 a0005c0007t0001 a0001c0001t0001 a0002c0002t0001 a0005c0007t0001	a0001c0001t0001g0004 a0002c0002t0001g0070 a0002c0002t0001g0072 others(11): Show a0001c0001t0001g0004 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0088 a0005c0007t0001g0076	14	91	0.1539	27	c.177 others(46): Show c.1779-1719_1779-1693dupCGTGGACTGTGAGGTGTGACTGTGAG G	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	651323	G G	GTGGACTG others(20): Show GTGGACTGTGAGATGTGACTGTGAGGCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02258.hp2 others(2): Show HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013	5	91	0.0550	27	c.177 others(46): Show c.1779-1654_1779-1653insATGTGACTGTGAGGCATGGACTGTGA G	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(20): Show GGGGGGGGGGGGGGGGGGGGGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0210 a0002c0002t0029g0210	1	302	0.0033	27	c.232 others(46): Show c.232+32152_232+32153insACACCCCCCCCCCCCCCCCCCCCCCC C	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(20): Show GGGGGGGGGGGGGGGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0239 a0002c0002t0002g0239	1	302	0.0033	27	c.232 others(46): Show c.232+32152_232+32153insACACACACACACCCCCCCCCCCCCCC C	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	342	0.0029	27	c.208 others(44): Show c.208+4426_208+4427insTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01943.hp1 NA18959.hp2 others(6): Show HG00597.hp2 HG01943.hp1 NA18959.hp2 NA18968.hp1 NA18969.hp2 NA19010.hp1 NA19057.hp1 NA19065.hp1 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0003 a0002c0003t0004 a0002c0004t0002 others(2): Show a0002c0003t0003 a0002c0003t0004 a0002c0004t0002 a0002c0004t0004 a0002c0004t0016	a0002c0003t0003g0108 a0002c0003t0004g0013 a0002c0003t0004g0100 others(6): Show a0002c0003t0003g0108 a0002c0003t0004g0013 a0002c0003t0004g0100 a0002c0003t0004g0112 a0002c0003t0004g0126 a0002c0004t0002g0244 a0002c0004t0004g0166 a0002c0004t0004g0263 a0002c0004t0016g0005	9	298	0.0302	27	c.239 others(44): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS4_chr19_8204370_8267421	8245110	T T	TCAAAAAA others(20): Show TCAAAAAAACAAAAAAAACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18954.hp1 NA18974.hp2 others(2): Show HG03834.hp1 NA18954.hp1 NA18974.hp2 NA18997.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 a0001c0001 a0001c0002 a0001c0021	a0001c0001t0003 a0001c0002t0006 a0001c0021t0005 a0001c0001t0003 a0001c0002t0006 a0001c0021t0005	a0001c0001t0003g0048 a0001c0002t0006g0215 a0001c0002t0006g0322 others(2): Show a0001c0001t0003g0048 a0001c0002t0006g0215 a0001c0002t0006g0322 a0001c0002t0006g0324 a0001c0021t0005g0189	5	418	0.0120	27	c.-1- others(42): Show c.-1-5958_-1-5957insCAAAAAAAACAAAAAAAAACAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8245112	A A	AAAAAAAC others(20): Show AAAAAAACAAAAAAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0214 a0001c0002t0006g0214	1	418	0.0024	27	c.-1- others(42): Show c.-1-5958_-1-5957insCAAAAAAAAACAAAAAAAAACAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8245112	A A	AAAAAAAC others(20): Show AAAAAAACAAAAAAAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp2 NA19000.hp2 HG02055.hp1 HG02896.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0007 a0001c0006t0006 a0001c0008t0001 a0001c0001t0007 a0001c0006t0006 a0001c0008t0001	a0001c0001t0007g0383 a0001c0006t0006g0266 a0001c0008t0001g0188 a0001c0001t0007g0383 a0001c0006t0006g0266 a0001c0008t0001g0188	3	418	0.0072	27	c.-1- others(42): Show c.-1-5958_-1-5957insCAAAAAAAACAAAAAAAAAACAAAAAA	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(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04199.hp1 HG04115.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0281 a0001c0002t0003g0416 a0001c0002t0002g0281 a0001c0002t0003g0416	2	418	0.0048	27	c.47 others(38): Show c.4754_*4755insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02129.hp1 NA18999.hp1 others(2): Show HG02074.hp2 HG02129.hp1 NA18999.hp1 NA19065.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0263 a0001c0001t0002g0358 a0001c0001t0002g0373 others(2): Show a0001c0001t0002g0263 a0001c0001t0002g0358 a0001c0001t0002g0373 a0002c0003t0004g0319 a0002c0003t0004g0376	5	418	0.0120	27	c.51 others(38): Show c.5185_*5186insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS6_chr2_168451272_168780134	168486518	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	176	0.0057	27	c.170 others(46): Show c.170+29900_170+29901insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168559754	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	176	0.0057	27	c.277 others(44): Show c.277-1438_277-1437insATATATATATATATATATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)