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 (≤).

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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
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0003 a0001c0026t0003	a0001c0026t0003g0035 a0001c0026t0003g0035	1	66	0.0152	33	c.404 others(52): Show c.404+12048_404+12049insATATATATATATATATATATATATTT TTTTTTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34167626	G G	GCCCCCCC others(26): Show GCCCCCCCGCCCCCCCCCCCCCCCGCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0015 a0004c0034t0015	a0004c0034t0015g0015 a0004c0034t0015g0015	1	66	0.0152	33	c.-25 others(44): Show c.-2530_-2529insGGGGGGGGGCGGGGGGGGGGGGGGGCGGGGGGG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding		2397		chr1	TogoVar
CSMD3_chr8_112217928_113441939	112369999	A A	AGAGGAAG others(26): Show AGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01255.hp2 HG01257.hp2 others(1): Show HG00423.hp1 HG01255.hp2 HG01257.hp2 HG03490.hp1	a0002 a0012 a0014 a0002 a0012 a0014	a0002c0005 a0002c0011 a0012c0022 others(1): Show a0002c0005 a0002c0011 a0012c0022 a0014c0030	a0002c0005t0001 a0002c0011t0001 a0012c0022t0001 others(1): Show a0002c0005t0001 a0002c0011t0001 a0012c0022t0001 a0014c0030t0001	a0002c0005t0001g0036 a0002c0011t0001g0001 a0012c0022t0001g0013 others(1): Show a0002c0005t0001g0036 a0002c0011t0001g0001 a0012c0022t0001g0013 a0014c0030t0001g0030	4	80	0.0500	33	c.613 others(54): Show c.6136+10352_6136+10353insCTCTTCTTCCTCTTCCTCTTCTTC CTCTTCCTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112370023	G G	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0009 a0002c0003t0006g0009	1	80	0.0125	33	c.613 others(54): Show c.6136+10296_6136+10328dupTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSNK1E_chr22_38285691_38322433	38317347	T T	TCGCCGCC others(26): Show TCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0269 a0001c0001t0093g0269	1	412	0.0024	33	c.-20 others(42): Show c.-201_-200insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	CSNK1E	ENSG00000213923.13	transcript	ENST00000396832.6	protein_coding	1/11	3191		chr22	TogoVar
CSPP1_chr8_67059392_67201614	67159956	T T	TTTCTTTT others(26): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	158	0.0063	33	c.253 others(50): Show c.2538+819_2538+820insTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTC	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30			chr8	TogoVar
CSRP3_chr11_19177030_19206983	19197564	T T	TTTCTTTC others(26): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	416	0.0024	33	c.-29 others(50): Show c.-29+4389_-29+4390insGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0001 a0001c0001t0049g0001	1	422	0.0024	33	c.11 others(44): Show c.1111_*1112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6	1112	INFO_REALIGN_3_PRIME	chr20	TogoVar
CT45A1_chrX_135708639_135728228	135712982	C C	CTTTCTTT others(26): Show CTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18984.hp1 HG00438.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	57	0.0351	33	c.-71 others(42): Show c.-715_-714insTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		656		chrX	TogoVar
CT45A1_chrX_135708639_135728228	135712982	C C	CTTTTCTT others(26): Show CTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 NA18962.hp1 HG00741.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0014 a0001c0001t0001g0032	2	57	0.0351	33	c.-71 others(42): Show c.-715_-714insTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		656		chrX	TogoVar
CT45A3_chrX_135755044_135773191	135769445	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	160	0.0063	33	c.-13 others(44): Show c.-1345_-1344insTTTTTTTCTTTCTCTTTCTTTCTTTCTTTCTTT	CT45A3	ENSG00000269096.7	transcript	ENST00000598716.3	protein_coding		1255		chrX	TogoVar
CTAG1B_chrX_154612609_154624282	154623378	T T	TCAAACCT others(26): Show TCAAACCTCATGGGTTCTCCAGCGACAAGGCTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	254	0.0039	33	c.-41 others(44): Show c.-4161_-4160insTTAGCCTTGTCGCTGGAGAACCCATGAGGTTTG	CTAG1B	ENSG00000184033.14	transcript	ENST00000328435.3	protein_coding		4097		chrX	TogoVar
CTDP1_chr18_79674803_79759503	79713857	T T	TCACGGTG others(26): Show TCACGGTGGCGCCAGGTCTGCAGGGGCTTACGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp2 others(36): Show HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01496.hp2 HG01993.hp1 HG02027.hp1 HG02080.hp2 HG02132.hp2 HG02735.hp1 NA18747.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp1 NA18980.hp2 NA18989.hp1 NA18993.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp2 NA19080.hp1 NA19089.hp2	a0001 a0003 a0014 others(1): Show a0001 a0003 a0014 a0017	a0001c0001 a0003c0005 a0003c0009 others(4): Show a0001c0001 a0003c0005 a0003c0009 a0003c0012 a0003c0023 a0014c0034 a0017c0040	a0001c0001t0002 a0003c0005t0002 a0003c0009t0002 others(4): Show a0001c0001t0002 a0003c0005t0002 a0003c0009t0002 a0003c0012t0002 a0003c0023t0003 a0014c0034t0002 a0017c0040t0001	a0001c0001t0002g0135 a0003c0005t0002g0005 a0003c0005t0002g0006 others(36): Show a0001c0001t0002g0135 a0003c0005t0002g0005 a0003c0005t0002g0006 a0003c0005t0002g0007 a0003c0005t0002g0008 a0003c0005t0002g0099 a0003c0005t0002g0102 a0003c0005t0002g0103 a0003c0005t0002g0104 a0003c0005t0002g0110 a0003c0005t0002g0111 a0003c0005t0002g0112 a0003c0005t0002g0113 a0003c0005t0002g0114 a0003c0005t0002g0118 a0003c0005t0002g0119 a0003c0005t0002g0120 a0003c0005t0002g0121 a0003c0005t0002g0123 a0003c0005t0002g0125 a0003c0005t0002g0126 a0003c0005t0002g0127 a0003c0005t0002g0128 a0003c0005t0002g0129 a0003c0005t0002g0130 a0003c0005t0002g0133 a0003c0005t0002g0134 a0003c0009t0002g0108 a0003c0009t0002g0109 a0003c0009t0002g0115 a0003c0009t0002g0116 a0003c0009t0002g0117 a0003c0009t0002g0124 a0003c0012t0002g0105 a0003c0012t0002g0106 a0003c0012t0002g0107 a0003c0023t0003g0361 a0014c0034t0002g0122 a0017c0040t0001g0256	39	378	0.1032	33	c.103 others(50): Show c.1031-526_1031-494dupCGCCAGGTCTGCAGGGGCTTACGGCCAC GGTGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDSPL2_chr15_44422629_44534038	44521937	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0028 a0001c0001t0009g0028	1	234	0.0043	33	c.133 others(50): Show c.1335+557_1335+558insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTNNA3_chr10_65907523_67701195	66360670	C C	CCTTTTCT others(26): Show CCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	46	0.0217	33	c.173 others(54): Show c.1732+18481_1732+18482insAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAAG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66360674	C C	CCTTTTCT others(26): Show CCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01243.hp2 others(2): Show HG01070.hp1 HG01081.hp1 HG01243.hp2 HG02280.hp2 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 others(2): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0002c0002t0005	a0001c0001t0004g0043 a0001c0001t0016g0003 a0001c0001t0021g0012 others(2): Show a0001c0001t0004g0043 a0001c0001t0016g0003 a0001c0001t0021g0012 a0001c0001t0023g0011 a0002c0002t0005g0014	5	46	0.1087	33	c.173 others(54): Show c.1732+18477_1732+18478insAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAAG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66978552	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0040 a0002c0002t0017g0040	1	46	0.0217	33	c.104 others(56): Show c.1047+201764_1047+201765insATATATATATATATATATATAT ATATTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTR9_chr11_10746246_10784746	10747258	T T	TTATATAA others(26): Show TTATATAATTATATATAATATATATTATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	406	0.0025	33	c.-41 others(44): Show c.-4155_-4154insTATATAATTATATATAATATATATTATATATTA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3987		chr11	TogoVar
CTSD_chr11_1747755_1768927	1754492	A A	AGGGATGT others(26): Show AGGGATGTGGGGATGGAGGGATGGAGGGATGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18962.hp2 NA18963.hp1 others(1): Show HG03654.hp2 NA18962.hp2 NA18963.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0122 a0001c0001t0001g0023 a0001c0001t0001g0122	4	386	0.0104	33	c.827 others(48): Show c.827+381_828-355dupCTCCATCCCTCCATCCCTCCATCCCCACAT CCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGGATGG others(26): Show GGGGATGGAGGGATGGAGGGATGGAGGGGATGGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	386	0.0026	33	c.827 others(48): Show c.827+348_827+380dupTCCATCCCCTCCATCCCTCCATCCCTCCAT CCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSD_chr11_1747755_1768927	1756139	G G	GCTGTGTG others(26): Show GCTGTGTGCCCCTCCCCCACATGGGCATTCATGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	386	0.0026	33	c.705 others(50): Show c.705-1144_705-1112dupGCATGAATGCCCATGTGGGGGAGGGGCA CACAG	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	5/8			chr11	TogoVar
CTSS_chr1_150725188_150770778	150744580	T T	TTATATAT others(26): Show TTATATATTATATATGTATATTATGTATACATAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	344	0.0029	33	c.896 others(50): Show c.896+3196_896+3197insTTATGTATACATAATATACATATATAAT ATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117817361	A A	ATAAATAA others(26): Show ATAAATAAATAAATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	164	0.0061	33	c.190 others(50): Show c.190-6373_190-6372insATATATATATATATATATTTATTTATTT ATTTA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	2/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117817361	A A	ATAAATAA others(26): Show ATAAATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01192.hp1 NA19030.hp2 HG01074.hp2 HG01192.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0002g0074 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0002g0074	3	164	0.0183	33	c.190 others(50): Show c.190-6373_190-6372insATATATATATATATATATATATATATTT ATTTA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	2/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117817361	A A	ATAAATAT others(26): Show ATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	164	0.0061	33	c.190 others(50): Show c.190-6373_190-6372insATATATATATATATATATATATATATAT ATTTA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	2/22			chr7	TogoVar
CUL4A_chr13_113204613_113272108	113260203	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG02132.hp1 others(2): Show HG01081.hp1 HG01167.hp1 HG02132.hp1 NA18963.hp2 NA18978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0232 a0002c0002t0001g0031 a0002c0002t0001g0092 others(2): Show a0001c0001t0001g0232 a0002c0002t0001g0031 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0336	5	396	0.0126	33	c.203 others(50): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CWC25_chr17_38795441_38830321	38829777	T T	TCAACTTC others(26): Show TCAACTTCCTATTTCCTCCCAACCTACCCATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0109 a0001c0001t0020g0109	1	383	0.0026	33	c.-45 others(44): Show c.-4595_-4594insGAGATGGGTAGGTTGGGAGGAAATAGGAAGTTG	CWC25	ENSG00000273559.5	transcript	ENST00000614790.5	protein_coding		4457		chr17	TogoVar
CX3CL1_chr16_57367490_57390044	57388779	A A	ATATGTGT others(26): Show ATATGTGTGTATATGTGTATATGTGTATTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	430	0.0023	33	c.57 others(44): Show c.5747_*5748insTATGTGTGTATATGTGTATATGTGTATTGTGTG	CX3CL1	ENSG00000006210.7	transcript	ENST00000006053.7	protein_coding		3736		chr16	TogoVar
CXCL13_chr4_77600820_77616834	77611736	T T	TGTGGGGG others(26): Show TGTGGGGGTGGGGGGGTAGAGTTCTAGGGGGGCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	366	0.0027	33	c.69 others(42): Show c.697_*698insGTGGGGGTGGGGGGGTAGAGTTCTAGGGGGGCG	CXCL13	ENSG00000156234.8	transcript	ENST00000682537.1	protein_coding	4/4	698		chr4	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGGTGTG others(26): Show GTGGTGTGTGTGTGCGCGCGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	33	c.-39 others(44): Show c.-3992_-3991insTGTGCGCGCGCGCGCGCGCGCACACACACACCA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(26): Show GTGTGTGTGTGCGCGCGCGCAGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	73	0.0137	33	c.-39 others(44): Show c.-3992_-3991insTGTGCGCGCGCGCTGCGCGCGCGCACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(26): Show GTGTGTGTGTGCGCGCGCGCGCAGGGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	33	c.-39 others(44): Show c.-3992_-3991insTGTGCGCGCCCTGCGCGCGCGCGCACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(26): Show GTGTGTGTGTGCGCGCGCGCGCGCTGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	33	c.-39 others(44): Show c.-3992_-3991insTGTGCGCGCAGCGCGCGCGCGCGCACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(26): Show GTGTGTGTGTGCGCGCGCGCGCTGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	73	0.0137	33	c.-39 others(44): Show c.-3992_-3991insTGTGCGCGCGCAGCGCGCGCGCGCACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(26): Show GTGTGTGTGTGTGCGCGCGCGCTGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	33	c.-39 others(44): Show c.-3992_-3991insTGTGCGCGCGCAGCGCGCGCGCACACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722146	G G	GTGTGTGC others(26): Show GTGTGTGCGCGCGCGCCGCGCGCGCACATGTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0014 a0014	a0014c0004 a0014c0004	a0014c0004t0001 a0014c0004t0001	a0014c0004t0001g0008 a0014c0004t0001g0008	1	73	0.0137	33	c.-39 others(44): Show c.-3996_-3995insTGCACATGTGCGCGCGCGGCGCGCGCGCACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3862		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722148	G G	GCGCGCGC others(26): Show GCGCGCGCGCTGCGCGCGCGCGCGCACATGTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	33	c.-39 others(44): Show c.-3998_-3997insTGCACATGTGCGCGCGCGCGCGCAGCGCGCGCG	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3864		chrX	TogoVar
CYB561D1_chr1_109489094_109505435	109503501	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	370	0.0027	33	c.72 others(44): Show c.7242_*7243insATATATATATATATATATATATATATATATATA	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		3067		chr1	TogoVar
CYB5R3_chr22_42612840_42654392	42650938	G G	GCAGCCTA others(26): Show GCAGCCTAAATACTTGTTGAATGGATGAATTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG03098.hp1 others(2): Show HG01891.hp2 HG02809.hp1 HG03098.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0031 a0002c0002t0031 a0003c0005t0059 others(2): Show a0001c0001t0031 a0002c0002t0031 a0003c0005t0059 a0003c0005t0060 a0003c0005t0061	a0001c0001t0031g0319 a0002c0002t0031g0315 a0003c0005t0059g0318 others(2): Show a0001c0001t0031g0319 a0002c0002t0031g0315 a0003c0005t0059g0318 a0003c0005t0060g0316 a0003c0005t0061g0317	5	360	0.0139	33	c.-16 others(44): Show c.-1656_-1624dupTCAAATTCATCCATTCAACAAGTATTTAGGCTG	CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding		1547		chr22	TogoVar
CYBRD1_chr2_171517474_171563129	171558319	T T	TATATATT others(26): Show TATATATTTATATATAATATTTACTATAAATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02523.hp2 HG00323.hp1 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0198 a0002c0002t0001g0170 a0002c0002t0001g0198	2	394	0.0051	33	c.34 others(44): Show c.3492_*3493insATATATTTATATATAATATTTACTATAAATATC	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		191		chr2	TogoVar
CYBRD1_chr2_171517474_171563129	171558379	A A	AAATATCA others(26): Show AAATATCATATATTTATATATAATATTTACTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA19000.hp1 NA18968.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0199 a0002c0002t0001g0032 a0002c0002t0001g0199	2	394	0.0051	33	c.35 others(44): Show c.3552_*3553insAATATCATATATTTATATATAATATTTACTATT	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		251		chr2	TogoVar
CYP21A2_chr6_32033415_32046644	32034072	G G	GTGTTTTA others(26): Show GTGTTTTACGGGGCACCAAGTAAGAGCAGACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0001 a0011c0024t0001	a0011c0024t0001g0001 a0011c0024t0001g0001	1	459	0.0022	33	c.-43 others(44): Show c.-4351_-4350insTGTTTTACGGGGCACCAAGTAAGAGCAGACTCT	CYP21A2	ENSG00000231852.9	transcript	ENST00000644719.2	protein_coding		4342		chr6	TogoVar
CYP4F12_chr19_15668087_15702174	15674689	C C	CACTCATT others(26): Show CACTCATTCCTCTCCTCACTCACTCATTCCTCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG00741.hp2 others(56): Show HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01109.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG01975.hp2 HG01981.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp2 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0003 a0010 a0011 a0003 a0010 a0011	a0003c0003 a0010c0024 a0011c0023 a0003c0003 a0010c0024 a0011c0023	a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 others(2): Show a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0010c0024t0002 a0011c0023t0002	a0003c0003t0002g0011 a0003c0003t0002g0016 a0003c0003t0002g0029 others(41): Show a0003c0003t0002g0011 a0003c0003t0002g0016 a0003c0003t0002g0029 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0048 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0169 a0003c0003t0002g0170 a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0174 a0003c0003t0002g0175 a0003c0003t0002g0176 a0003c0003t0002g0178 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0002g0186 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0198 a0003c0003t0002g0199 a0003c0003t0002g0200 a0003c0003t0002g0201 a0003c0003t0004g0177 a0003c0003t0005g0047 a0003c0003t0005g0192 a0003c0003t0005g0193 a0010c0024t0002g0179 a0011c0023t0002g0029	59	410	0.1439	33	c.198 others(48): Show c.198+962_198+963insACTCATTCCTCTCCTCACTCACTCATTCCT CTT	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12			chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15689143	A A	AATAATAA others(26): Show AATAATAATAATAATAATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02970.hp2 others(5): Show HG02109.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0023 a0003c0003 a0011c0023	a0003c0003t0002 a0011c0023t0002 a0003c0003t0002 a0011c0023t0002	a0003c0003t0002g0029 a0003c0003t0002g0131 a0003c0003t0002g0180 others(4): Show a0003c0003t0002g0029 a0003c0003t0002g0131 a0003c0003t0002g0180 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0190 a0011c0023t0002g0029	8	410	0.0195	33	c.111 others(52): Show c.1115+3949_1115+3950insATAATAATAATAATCATCATCATCAT CATCATA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15689143	A A	AATAATAA others(26): Show AATAATAATAATAATCATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19240.hp1 HG02258.hp2 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0185 a0003c0003t0002g0186 a0003c0003t0002g0185 a0003c0003t0002g0186	2	410	0.0049	33	c.111 others(52): Show c.1115+3949_1115+3950insATAATAATAATCATCATCATCATCAT CATCATA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15689143	A A	AATAATAA others(26): Show AATAATAATAATCATCATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0018 a0018	a0018c0012 a0018c0012	a0018c0012t0002 a0018c0012t0002	a0018c0012t0002g0213 a0018c0012t0002g0213	1	410	0.0024	33	c.111 others(52): Show c.1115+3949_1115+3950insATAATAATCATCATCATCATCATCAT CATCATA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F22_chr19_15503525_15557317	15510966	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	384	0.0026	33	c.-10 others(52): Show c.-109+2384_-109+2385insATATATATATATATATATATATATTT TTTTTTT	CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F22_chr19_15503525_15557317	15510967	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03491.hp2 HG01891.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0019 a0001c0001t0002g0020	2	384	0.0052	33	c.-10 others(52): Show c.-109+2384_-109+2385insATATATATATATATATATATATATAT ATATATA	CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	1/13			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15656524	T T	TCTATCTA others(26): Show TCTATCTATCTATGTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03654.hp2 NA18965.hp1 others(3): Show HG00741.hp2 HG03654.hp2 NA18965.hp1 NA18968.hp2 NA19002.hp1 NA19084.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0015 a0001c0005t0004g0016 a0001c0005t0004g0019 others(3): Show a0001c0005t0004g0015 a0001c0005t0004g0016 a0001c0005t0004g0019 a0001c0005t0004g0021 a0001c0005t0004g0030 a0001c0005t0004g0042	6	424	0.0142	33	c.111 others(52): Show c.1116-1740_1116-1739insCTATCTATCTATGTATCTATCTATCT ATCTATC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	9/12			chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78269462	C C	CTATATAA others(26): Show CTATATAATATATATAAATATAGAATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	240	0.0042	33	c.32 others(44): Show c.3270_*3271insTAATATATATTCTATATTTATATATATTATATA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2005		chrX	TogoVar

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Search Results (Total: 4928 hits)