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
CSH1_chr17_63889918_63901574	63898108	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	34	c.-15 others(45): Show c.-1598_-1597insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1535		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	34	c.-16 others(45): Show c.-1638_-1637insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1575		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898152	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01516.hp2 others(6): Show HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG02015.hp1 NA19009.hp2 NA19070.hp2 NA19074.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0019 a0001c0001t0001g0001 a0001c0001t0006g0019	9	428	0.0210	34	c.-16 others(45): Show c.-1642_-1641insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1579		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898156	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG04199.hp2 others(5): Show HG03491.hp2 HG03492.hp2 HG04199.hp2 NA18960.hp1 NA18969.hp2 NA18975.hp1 NA18997.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	8	428	0.0187	34	c.-16 others(45): Show c.-1646_-1645insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1583		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(27): Show TTTTTTTTTTTTTTTTTTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	394	0.0025	34	c.-66 others(51): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTTTGTGTGTGTGT GTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0030 a0003c0034t0030	a0003c0034t0030g0038 a0003c0034t0030g0038	1	126	0.0079	34	c.591 others(53): Show c.5914+2537_5914+2538insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(27): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02074.hp2 HG01071.hp1 HG02074.hp2	a0002 a0002	a0002c0041 a0002c0091 a0002c0041 a0002c0091	a0002c0041t0027 a0002c0091t0002 a0002c0041t0027 a0002c0091t0002	a0002c0041t0027g0018 a0002c0091t0002g0114 a0002c0041t0027g0018 a0002c0091t0002g0114	2	126	0.0159	34	c.562 others(53): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC ACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3556412	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02647.hp1 others(2): Show HG02280.hp1 HG02451.hp2 HG02647.hp1 HG03098.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0029	a0001c0002 a0001c0045 a0002c0053 others(2): Show a0001c0002 a0001c0045 a0002c0053 a0003c0058 a0029c0028	a0001c0002t0028 a0001c0045t0012 a0002c0053t0022 others(2): Show a0001c0002t0028 a0001c0045t0012 a0002c0053t0022 a0003c0058t0057 a0029c0028t0024	a0001c0002t0028g0005 a0001c0045t0012g0010 a0002c0053t0022g0041 others(2): Show a0001c0002t0028g0005 a0001c0045t0012g0010 a0002c0053t0022g0041 a0003c0058t0057g0117 a0029c0028t0024g0040	5	126	0.0397	34	c.134 others(55): Show c.1344+18532_1344+18533insGTATGTATATATATATATATATAT ATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4717310	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0006 a0001c0026t0006	a0001c0026t0006g0093 a0001c0026t0006g0093	1	126	0.0079	34	c.86- others(51): Show c.86-79753_86-79752insATATATATATATATATATATATATATAT ATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112342971	T T	TTTTATAT others(27): Show TTTTATATATATATATTTATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG02735.hp2 others(4): Show HG00423.hp1 HG01175.hp1 HG02735.hp2 HG03490.hp1 HG03688.hp2 NA18990.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0016 a0002c0005 others(1): Show a0001c0007 a0001c0016 a0002c0005 a0002c0011	a0001c0007t0001 a0001c0016t0001 a0002c0005t0001 others(1): Show a0001c0007t0001 a0001c0016t0001 a0002c0005t0001 a0002c0011t0001	a0001c0007t0001g0012 a0001c0016t0001g0073 a0002c0005t0001g0027 others(4): Show a0001c0007t0001g0012 a0001c0016t0001g0073 a0002c0005t0001g0027 a0002c0005t0001g0033 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0011t0001g0001	7	80	0.0875	34	c.644 others(53): Show c.6443-1286_6443-1285insTAAATATATATATATATAAATATATA TATATAAA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	41/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153126	A A	AAAGAAAG others(27): Show AAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0008 a0003c0002t0001g0008	1	80	0.0125	34	c.709 others(53): Show c.709+20595_709+20596insCTTCCTTCCTTCCTTCTTTCTTTCTT TCTTTCTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542618	A A	ATATATAT others(27): Show ATATATATATGTGTATATATATATATACATGTATG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0356 a0001c0001t0022g0356	1	390	0.0026	34	c.230 others(51): Show c.230+7456_230+7457insCATACATGTATATATATATATACACATA TATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542636	A A	ATATACAT others(27): Show ATATACATGTATGTATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	390	0.0026	34	c.230 others(51): Show c.230+7438_230+7439insCACATATATATATATATATATACATACA TGTATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544737	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0163 a0001c0001t0014g0163	1	390	0.0026	34	c.230 others(51): Show c.230+5337_230+5338insTATATATATATATATATATATATATATA TATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64343208	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18974.hp1 HG02258.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0101 a0001c0003t0002g0091 a0001c0002t0001g0101 a0001c0003t0002g0091	2	176	0.0114	34	c.-22 others(55): Show c.-225+12779_-225+12780insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK2A1_chr20_467498_548790	485099	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0146	1	316	0.0032	34	c.106 others(53): Show c.1061-1024_1061-1023insATATATATATATATATATATATATAT ATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	316	0.0032	34	c.106 others(53): Show c.1061-1034_1061-1033insATATATATATATATATATATATATAT ATATATTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	400	0.0025	34	c.429 others(51): Show c.429+2492_429+2493insATATATATATATATATATATATATATAT ATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0336 a0001c0001t0005g0336	1	400	0.0025	34	c.429 others(51): Show c.429+2471_429+2472insAATATATATATATATATATATATATATA TATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0335 a0001c0001t0005g0335	1	400	0.0025	34	c.429 others(51): Show c.429+2471_429+2472insAAAATATATATATATATATATATATATA TATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88449874	T T	TATATATA others(27): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0005 a0002c0011t0001g0005	1	386	0.0026	34	c.-27 others(55): Show c.-270-15213_-270-15212insTATATATATATATAGAGAGAGAGA GAGAGAGAGA	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSRNP3_chr2_165464698_165694407	165477483	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0076 a0001c0002t0021g0076	1	246	0.0041	34	c.-28 others(53): Show c.-283+7758_-283+7759insTATATATATATATATATATATATATA TATATATA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490107	A A	ATTATATA others(27): Show ATTATATATATTAATTATATATATAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0037 a0003c0005t0001g0037	1	440	0.0023	34	c.-13 others(45): Show c.-1379_-1378insTTATATATATTAATTATATATATAATATATATAT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		1009		chr20	TogoVar
CT45A1_chrX_135708639_135728228	135712996	C C	CCTTCCTT others(27): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	57	0.0175	34	c.-70 others(43): Show c.-701_-700insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		642		chrX	TogoVar
CTIF_chr18_48534031_48868217	48772470	C C	CATAACTC others(27): Show CATAACTCCCCTACAGCAATAACTCCCCTACAGCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG03139.hp2 others(1): Show HG01243.hp1 HG01884.hp2 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0019	a0001c0001t0001g0032 a0001c0001t0003g0030 a0001c0001t0008g0023 others(1): Show a0001c0001t0001g0032 a0001c0001t0003g0030 a0001c0001t0008g0023 a0001c0001t0019g0138	4	144	0.0278	34	c.137 others(55): Show c.1371+10801_1371+10834dupAACTCCCCTACAGCAATAACTCCC CTACAGCAAT	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA2_chr2_79508051_80653780	79818821	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0040 a0002c0006t0001g0040	1	68	0.0147	34	c.299 others(53): Show c.299-39191_299-39190insTTATATATATATATATATATATATAT ATATATAT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66042899	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	46	0.0217	34	c.215 others(55): Show c.2159+26408_2159+26409insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66328911	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0014 a0002c0002t0005g0014	1	46	0.0217	34	c.173 others(55): Show c.1733-48291_1733-48290insATATATATATATATATATATATAT ATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133306	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0007 a0001c0001t0006g0008	2	46	0.0435	34	c.104 others(55): Show c.1047+47010_1047+47011insATATATATATATATATATATATAT ATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	46	0.0217	34	c.104 others(55): Show c.1047+46988_1047+46989insGTATAAATATATATATATATATAT ATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0014 a0002c0002t0005g0014	1	46	0.0217	34	c.293 others(53): Show c.293-26375_293-26374insTATATATATATATATATATATATATA TATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0005 a0004c0008t0005	a0004c0008t0005g0033 a0004c0008t0005g0033	1	46	0.0217	34	c.293 others(53): Show c.293-26375_293-26374insTATATATATATATATATATATATATA TATATACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67577704	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTATGTGTATATATATACACACATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	46	0.0217	34	c.292 others(53): Show c.292+29152_292+29153insTATGTGTGTATATATATACACATACA CACACACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNND2_chr5_10966836_11909446	11376316	G G	GTGTGTGT others(27): Show GTGTGTGTGCGTGTGTGTGTGTGTGTTCATGTATC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	26	0.0385	34	c.117 others(53): Show c.1177+8348_1177+8349insGATACATGAACACACACACACACACG CACACACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635236	A A	AGGAAGGA others(27): Show AGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0201 a0002c0002t0010g0250 a0002c0002t0010g0251 a0002c0002t0010g0201 a0002c0002t0010g0250 a0002c0002t0010g0251	3	372	0.0081	34	c.-18 others(45): Show c.-1825_-1824insGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1523		chr17	TogoVar
CTPS2_chrX_16582999_16717669	16661993	C C	CATATATA others(27): Show CATATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19060.hp1 NA19066.hp1 NA18945.hp1 NA19060.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0002t0002g0005 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0002t0002g0005	3	226	0.0133	34	c.129 others(53): Show c.1296+5520_1296+5521insATATATATATATATATATATATATGT ATATATAT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(27): Show TGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(36): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00639.hp1 HG01069.hp1 HG01099.hp2 HG01891.hp1 HG02055.hp1 HG02071.hp1 HG02129.hp1 HG02135.hp2 HG02559.hp1 HG02717.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03195.hp2 HG03540.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18940.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18997.hp2 NA19003.hp2 NA19011.hp2 NA19030.hp1 NA19058.hp2 NA19078.hp2 NA19081.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0020 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0129 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0283 a0001c0001t0001g0294 a0001c0001t0005g0056 a0001c0001t0007g0317	39	434	0.0899	34	c.24 others(45): Show c.2436_*2437insTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSD_chr11_1747755_1768927	1754549	A A	AGGGGATG others(27): Show AGGGGATGGAGGGATGGAGGGATGGAGGGATGGAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	386	0.0026	34	c.827 others(49): Show c.827+356_827+357insCTCCATCCCTCCATCCCTCCATCCCTCCAT CCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSL_chr9_87721119_87736469	87734850	G G	GCCCCCCC others(27): Show GCCCCCCCCGGCCCCCCGCCTCTGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	388	0.0026	34	c.37 others(45): Show c.3743_*3744insCCCCCCCCGGCCCCCCGCCTCTGCCCCCCCCCCC	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding		3382		chr9	TogoVar
CTSS_chr1_150725188_150770778	150728801	G G	GGCTCCTC others(27): Show GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	344	0.0029	34	c.42 others(45): Show c.4244_*4245insTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		1386		chr1	TogoVar
CTSS_chr1_150725188_150770778	150744325	T T	TTTATATA others(27): Show TTTATATATTATATGTATATTATGTATACATAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	344	0.0029	34	c.896 others(51): Show c.896+3451_896+3452insTATTATGTATACATAATATACATATAAT ATATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744361	T T	TTTATATA others(27): Show TTTATATATTATATGTATATTATGTATACATAATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	344	0.0029	34	c.896 others(51): Show c.896+3415_896+3416insTATTATGTATACATAATATACATATAAT ATATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744397	T T	TTTATATA others(27): Show TTTATATATTATATGTATATTATGTATACATAATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02015.hp2 HG02273.hp1 others(11): Show HG01069.hp2 HG02015.hp2 HG02273.hp1 HG02896.hp1 HG03942.hp2 HG04204.hp1 NA18944.hp1 NA18966.hp1 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA19001.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0002 a0002c0002t0002g0015 a0002c0002t0002g0017 others(9): Show a0002c0002t0002g0002 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0040 a0002c0002t0002g0051 a0002c0002t0002g0064 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0092 a0002c0002t0002g0106 a0002c0002t0004g0038	14	344	0.0407	34	c.896 others(51): Show c.896+3379_896+3380insTATTATGTATACATAATATACATATAAT ATATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117871844	T T	TCACACAC others(27): Show TCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03579.hp1 HG03579.hp2 HG01168.hp2 HG03579.hp1 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0006c0010t0001 a0001c0001t0001 a0001c0001t0003 a0006c0010t0001	a0001c0001t0001g0083 a0001c0001t0003g0122 a0006c0010t0001g0121 a0001c0001t0001g0083 a0001c0001t0003g0122 a0006c0010t0001g0121	3	164	0.0183	34	c.81+ others(49): Show c.81+1490_81+1491insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CUEDC1_chr17_57856243_57960412	57893349	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0149 a0002c0003t0004g0149	1	212	0.0047	34	c.-31 others(53): Show c.-315-7471_-315-7470insCACACACACACACACACACACACACA CACACACA	CUEDC1	ENSG00000180891.13	transcript	ENST00000577830.6	protein_coding	1/10			chr17	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCGCGC others(27): Show GCGCGCGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	338	0.0030	34	c.-16 others(53): Show c.-161-4742_-161-4741insGCGCGCACACACACACACACACACAC ACACACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUL4A_chr13_113204613_113272108	113260203	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA19009.hp2 HG01169.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0001 a0002c0002t0001 a0001c0007t0001 a0002c0002t0001	a0001c0007t0001g0209 a0002c0002t0001g0030 a0001c0007t0001g0209 a0002c0002t0001g0030	2	396	0.0051	34	c.203 others(51): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113260211	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	396	0.0025	34	c.203 others(51): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAAAAAAACAA AAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUX2_chr12_111029165_111355554	111325925	G G	GTGTGTTG others(27): Show GTGTGTTGGGGAGGGGTGGGTTTTGTTTATAGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	100	0.0100	34	c.292 others(53): Show c.2926+3355_2926+3356insAGGGGTGGGTTTTGTTTATAGTGTTG TGTTGGGG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0083 a0001c0003t0001g0017 a0001c0001t0002g0083 a0001c0003t0001g0017	2	100	0.0200	34	c.292 others(53): Show c.2927-5466_2927-5465insTCTCTCTCTCTCCCCCTCTCTCCCTC TCTCCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)