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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	322	0.0031	32	c.121 others(53): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCTCAC ACACACAC		CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	322	0.0031	32	c.121 others(53): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCTCTC TCTCACAC		CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91091501	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 NA18522.hp2 HG02145.hp2 HG02622.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0022 a0001c0001t0001g0126 a0001c0001t0037g0119 a0001c0001t0001g0022 a0001c0001t0001g0126 a0001c0001t0037g0119	3	168	0.0179	32	c.115 others(53): Show c.1154+12037_1154+12038insTATATATATATATATATATATATA TATATATA		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01070.hp1 others(14): Show HG00408.hp2 HG00738.hp2 HG01070.hp1 HG01167.hp1 HG01346.hp1 HG01943.hp1 HG02129.hp1 HG02523.hp2 HG03239.hp2 HG04199.hp2 NA18959.hp2 NA18983.hp2 NA18989.hp1 NA19003.hp1 NA19063.hp2 NA19083.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025	a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0233 others(14): Show a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0253 a0001c0001t0002g0171 a0001c0001t0002g0226 a0001c0001t0002g0245 a0001c0001t0005g0260 a0001c0001t0008g0255 a0001c0001t0009g0215 a0001c0001t0012g0037 a0001c0001t0014g0266 a0001c0001t0015g0180 a0001c0001t0015g0242 a0001c0001t0015g0258 a0001c0001t0025g0228	17	322	0.0528	32	c.100 others(51): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK17_chr12_96273261_96405439	96277780	G G	GAGATATA others(25): Show GAGATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	346	0.0029	32	c.24 others(43): Show c.2461_*2462insATATATATATATATATATATATATATATATCT		CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding					480		chr12	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0158 a0002c0002t0008g0158	1	388	0.0026	32	c.15 others(43): Show c.1559_*1560insTGTGTGTGTGTGTGTATATATATATATATATA		CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding					148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0126 a0002c0002t0010g0126	1	388	0.0026	32	c.15 others(43): Show c.1559_*1560insTGTGTGTGTGTGTGTGTGTGTATATATATATA		CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding					148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	388	0.0026	32	c.15 others(43): Show c.1559_*1560insTGTGTGTGTGTGTGTGTGTGTGTATATATATA		CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding					148		chr1	TogoVar
CDK19_chr6_110604978_110820469	110641646	A A	AAAGAAAG others(25): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	300	0.0033	32	c.457 others(49): Show c.457-2941_457-2940insCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCTT		CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12						chr6	TogoVar
CDK19_chr6_110604978_110820469	110734520	G G	GCTCTCTC others(25): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18985.hp1 NA19057.hp1 NA18943.hp2 NA18985.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0116 a0001c0001t0010g0110 a0001c0001t0010g0113 a0001c0001t0007g0116 a0001c0001t0010g0110 a0001c0001t0010g0113	3	300	0.0100	32	c.204 others(51): Show c.204+11574_204+11605dupAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG		CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	2/12						chr6	TogoVar
CDK1_chr10_60773478_60799852	60794440	T T	TGGTATTT others(25): Show TGGTATTTTAATTTTTGACCTAAATGTTTAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	1	458	0.0022	32	c.46 others(41): Show c.466_*497dupGGTATTTTAATTTTTGACCTAAATGTTTAAGC		CDK1	ENSG00000170312.17	transcript	ENST00000395284.8	protein_coding	8/8				498	INFO_REALIGN_3_PRIME	chr10	TogoVar
CDK2AP1_chr12_123255976_123276856	123275157	A A	AGGTGCTG others(25): Show AGGTGCTGAGGGGCTGAGGTGCTGTGGGGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0031	32	c.-35 others(43): Show c.-3540_-3539insCCAGCCCCACAGCACCTCAGCCCCTCAGCACC		CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding					3302		chr12	TogoVar
CDK5R2_chr2_218954666_218967155	218966503	T T	TATATATA others(25): Show TATATATATATATATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	388	0.0026	32	c.55 others(43): Show c.5579_*5580insATATATATATATATATATACACACACACACAC		CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding					4349		chr2	TogoVar
CDK6_chr7_92599921_92841573	92672160	T T	TATATATA others(25): Show TATATATATATACACACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0104 a0001c0001t0027g0104	1	124	0.0081	32	c.538 others(47): Show c.538-626_538-625insGTGTGTGTGTGTGTATGTGTGTATATATAT AT		CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7						chr7	TogoVar
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02572.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0049 a0001c0001t0011 a0001c0001t0049	a0001c0001t0011g0108 a0001c0001t0049g0109 a0001c0001t0011g0108 a0001c0001t0049g0109	2	124	0.0161	32	c.234 others(49): Show c.234-4116_234-4115insTTTTATATATATATATATATATATATAT ATAT		CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7						chr7	TogoVar
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02886.hp1 HG03471.hp1 others(2): Show HG01192.hp1 HG02886.hp1 HG03471.hp1 NA19012.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0038	a0001c0001t0002g0033 a0001c0001t0002g0122 a0001c0001t0004g0015 others(2): Show a0001c0001t0002g0033 a0001c0001t0002g0122 a0001c0001t0004g0015 a0001c0001t0005g0030 a0001c0001t0038g0018	5	124	0.0403	32	c.234 others(49): Show c.234-4116_234-4115insTTATATATATATATATATATATATATAT ATAT		CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7						chr7	TogoVar
CDK8_chr13_26249129_26410238	26408766	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01993.hp1 HG01975.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0202 a0001c0001t0001g0205	2	328	0.0061	32	c.46 others(43): Show c.4685_*4686insACACACACACACACACACACACACACACACAC		CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding					3529		chr13	TogoVar
CDKAL1_chr6_20529457_21237404	20600771	C C	CATATATA others(25): Show CATATATATATATATATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0183 a0001c0002t0009g0183	1	196	0.0051	32	c.287 others(51): Show c.287-48505_287-48504insTATACACATATATATATATATATATA TATATA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0080 a0002c0003t0005g0080	1	196	0.0051	32	c.105 others(51): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATATA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	196	0.0051	32	c.105 others(51): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TACACA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0152 a0001c0001t0024g0152	1	196	0.0051	32	c.105 others(51): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATACA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(25): Show GCACGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0032 a0001c0001t0031g0032	1	192	0.0052	32	c.65- others(47): Show c.65-1620_65-1619insGCGCGCGCGCGCACACACACACACACACAC AC		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	C C	CCTCTCTC others(25): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0021 a0001c0001t0023g0021	1	192	0.0052	32	c.249 others(51): Show c.2496+1446_2496+1477dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36681264	T T	TTTTCTTT others(25): Show TTTTCTTTCTCTCTTTCTTTCCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01123.hp2 others(14): Show HG00621.hp2 HG01070.hp1 HG01123.hp2 HG01255.hp1 HG01993.hp1 HG02056.hp1 HG02074.hp2 HG02165.hp2 HG02970.hp1 NA18943.hp2 NA18960.hp1 NA18974.hp1 NA18982.hp1 NA19070.hp2 NA19074.hp2 NA19085.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0056 a0001c0001t0001g0249 a0001c0001t0001g0250 others(12): Show a0001c0001t0001g0056 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0321 a0001c0001t0001g0334 a0001c0001t0001g0346 a0001c0001t0001g0354 a0001c0001t0001g0375 a0002c0002t0002g0037 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0100 a0002c0002t0002g0168 a0002c0002t0002g0205	17	454	0.0374	32	c.-6+ others(47): Show c.-6+2475_-6+2476insCTCTTTCTTTCCTTCTTTCTTTCTTTCTTT CT		CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681334	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	454	0.0022	32	c.-6+ others(47): Show c.-6+2537_-6+2538insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CT		CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03453.hp1 NA18942.hp2 others(3): Show HG01358.hp2 HG03453.hp1 NA18942.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0010 a0001c0001t0001g0133 a0001c0001t0001g0138	6	416	0.0144	32	c.151 others(47): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2						chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03453.hp1 NA18942.hp2 others(1): Show HG01358.hp2 HG03453.hp1 NA18942.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0182 a0001c0001t0001g0266 others(1): Show a0001c0001t0001g0118 a0001c0001t0001g0182 a0001c0001t0001g0266 a0001c0001t0001g0268	4	404	0.0099	32	c.194 others(47): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981108	A A	ATATATAT others(25): Show ATATATATATACGTGTATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0366	1	404	0.0025	32	c.194 others(49): Show c.194-9901_194-9900insCACGTATATATATATATACACGTATATA TATA		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981162	A A	ATATATAT others(25): Show ATATATATATACGTGTATATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0375 a0001c0001t0001g0375	1	404	0.0025	32	c.194 others(49): Show c.194-9955_194-9954insCACGTGTATATATATATACACGTATATA TATA		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981162	A A	ATATATAT others(25): Show ATATATATATACGTGTATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01256.hp1 others(6): Show HG00639.hp1 HG01109.hp2 HG01256.hp1 HG01516.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0371 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0007g0367 a0001c0001t0007g0374	9	404	0.0223	32	c.194 others(49): Show c.194-9955_194-9954insCACGTATATATATATATACACGTATATA TATA		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01981.hp1 HG02451.hp1 others(9): Show HG01952.hp2 HG01981.hp1 HG02451.hp1 HG02886.hp1 HG03225.hp1 NA18941.hp1 NA18941.hp2 NA18960.hp1 NA19002.hp1 NA19081.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(9): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0144 a0001c0001t0001g0174 a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0386 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0005g0322	12	404	0.0297	32	c.193 others(49): Show c.193+3496_193+3527dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10573605	C C	CCAAACTC others(25): Show CCAAACTCGCGACCACCCTAGAACTGACGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	32	c.-49 others(43): Show c.-4984_-4953dupTCAGCGTCAGTTCTAGGGTGGTCGCGAGTTTG		CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding					4627		chr19	TogoVar
CDO1_chr5_115799733_115821659	115816292	T T	TGGCCTGC others(25): Show TGGCCTGCACCTCCTCTACATTGACCTCATCGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0096 a0002c0004t0001g0096	1	372	0.0027	32	c.74_ others(38): Show c.74_105dupGCGATGAGGTCAATGTAGAGGAGGTGCAGGCC	p.Ile others(4): Show p.Ile36fs	CDO1	ENSG00000129596.5	transcript	ENST00000250535.5	protein_coding	1/5	367/1565	105/603	35/200			chr5	TogoVar
CDRT4_chr17_15431015_15472621	15431435	G G	GCGCTTGT others(25): Show GCGCTTGTCCTAATGCATCCACTGCCAGAACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	430	0.0023	32	c.63 others(43): Show c.6337_*6338insACGTTCTGGCAGTGGATGCATTAGGACAAGCG		CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding					4579		chr17	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	430	0.0023	32	c.20 others(43): Show c.2024_*2025insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding					266		chr17	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18612.hp2 HG01361.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0203 a0001c0001t0001g0116 a0001c0001t0001g0203	2	384	0.0052	32	c.810 others(47): Show c.810+277_810+278insGCCTGCCTGCCTGCCTTCCTTCCTTCCTTC CT		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp2 HG02148.hp1 others(4): Show HG01192.hp2 HG01891.hp2 HG02148.hp1 HG02293.hp1 HG04204.hp2 NA18942.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0001t0028	a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0139 others(4): Show a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0008g0092 a0001c0001t0017g0100 a0001c0001t0028g0362	7	384	0.0182	32	c.810 others(47): Show c.810+277_810+278insGCCTGCCTGCCTTCCTTCCTTCCTTCCTTC CT		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01993.hp1 HG04115.hp1 others(2): Show HG00673.hp1 HG01993.hp1 HG04115.hp1 NA18977.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0001t0001g0161	5	384	0.0130	32	c.810 others(47): Show c.810+277_810+278insGCCTGCCTTCCTTCCTTCCTTCCTTCCTTC CT		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84635688	T T	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19058.hp1 NA19083.hp1 others(1): Show NA19012.hp2 NA19058.hp1 NA19083.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0008g0054	4	384	0.0104	32	c.810 others(47): Show c.810+340_810+341insTTCCTTCCTTCCTTCCTTCCCTCCTTCCCT CC		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	386	0.0026	32	c.317 others(49): Show c.317+1749_317+1750insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0049 a0001c0001t0012g0049	1	250	0.0040	32	c.691 others(49): Show c.691+8401_691+8402insGTGTGTGTATATATATATATATATATAT ATAT		CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	250	0.0040	32	c.691 others(49): Show c.691+8401_691+8402insGTGTGTGTGTGTGTATATATATATATAT ATAT		CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM1_chr19_42502306_42533481	42513915	T T	TATATATA others(25): Show TATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0174 a0002c0003t0002g0174	1	290	0.0035	32	c.124 others(51): Show c.1247-1437_1247-1436insTTATTTATATATATATATATATATAT ATATAT		CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8						chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518079	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03453.hp1 NA20129.hp2 HG02155.hp1 HG03453.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0006c0010 a0001c0001 a0006c0009 a0006c0010	a0001c0001t0001 a0006c0009t0001 a0006c0010t0001 a0001c0001t0001 a0006c0009t0001 a0006c0010t0001	a0001c0001t0001g0203 a0006c0009t0001g0391 a0006c0010t0001g0127 a0001c0001t0001g0203 a0006c0009t0001g0391 a0006c0010t0001g0127	3	438	0.0069	32	c.103 others(49): Show c.1031-856_1031-855insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11						chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518103	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	438	0.0023	32	c.103 others(49): Show c.1031-880_1031-879insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11						chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518103	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	438	0.0023	32	c.103 others(49): Show c.1031-880_1031-879insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11						chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41631241	T T	TCTGTAAT others(25): Show TCTGTAATCTTAAAAGAAAAATAAATAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	437	0.0023	32	c.-42 others(43): Show c.-4279_-4278insTTTTTTTATTTATTTTTCTTTTAAGATTACAG		CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding					4168		chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581920	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG04228.hp2 HG02486.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0106 a0001c0001t0008g0178 a0001c0001t0001g0106 a0001c0001t0008g0178	2	314	0.0064	32	c.41 others(47): Show c.41-568_*41-567insATATATATATATATATATATATATATATAT TT		CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5						chr19	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG02717.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0166 a0001c0001t0007g0212 a0001c0001t0001g0166 a0001c0001t0007g0212	2	340	0.0059	32	c.72- others(45): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14						chr11	TogoVar
CELF1_chr11_47460937_47558132	47541496	G G	GCCTGGCC others(25): Show GCCTGGCCAACATGGTGAAACCCCGTCTCTACT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0124 a0001c0001t0007g0124	1	340	0.0029	32	c.-15 others(53): Show c.-154+11464_-154+11495dupAGTAGAGACGGGGTTTCACCATGT TGGCCAGG		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14						chr11	TogoVar

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Search Results (Total: 10000 hits)