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.

⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA21309.hp2 HG02965.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0042 a0001c0001t0026 a0001c0001t0042	a0001c0001t0026g0106 a0001c0001t0042g0037 a0001c0001t0026g0106 a0001c0001t0042g0037	2	124	0.0161	24	c.234 others(41): Show c.234-4116_234-4115insTTATATATATATATATATATATAT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7			chr7	TogoVar
CDK8_chr13_26249129_26410238	26249758	C C	CATCCATC others(17): Show CATCCATCTATCTATCTATCTATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	328	0.0031	24	c.-48 others(35): Show c.-4884_-4883insATCCATCTATCTATCTATCTATCT	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding		4370		chr13	TogoVar
CDK8_chr13_26249129_26410238	26361784	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	328	0.0031	24	c.456 others(41): Show c.456+7910_456+7933dupTTTTTTTTTTTTTTTTTTTTTTTT	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDKAL1_chr6_20529457_21237404	20600766	G G	GTATACAT others(17): Show GTATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18978.hp2 NA18990.hp2 NA18957.hp1 NA18978.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0015 a0001c0002t0003 a0001c0001t0014 a0001c0001t0015 a0001c0002t0003	a0001c0001t0014g0067 a0001c0001t0015g0095 a0001c0002t0003g0066 a0001c0001t0014g0067 a0001c0001t0015g0095 a0001c0002t0003g0066	3	196	0.0153	24	c.287 others(43): Show c.287-48505_287-48504insTATATACATATATATATATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20600775	T T	TATATATA others(17): Show TATATATATATATATATATGTATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0020 a0001c0002t0003g0020	1	196	0.0051	24	c.287 others(43): Show c.287-48505_287-48504insTATATGTATACATATATATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20609279	C C	CCTTCTCC others(17): Show CCTTCTCCTTCTTCTCCTTCTCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18994.hp1 HG01934.hp1 NA18994.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0024 a0003c0015t0010 a0001c0001t0024 a0003c0015t0010	a0001c0001t0024g0158 a0003c0015t0010g0171 a0001c0001t0024g0158 a0003c0015t0010g0171	2	196	0.0102	24	c.287 others(43): Show c.287-39991_287-39990insTCTTCTCCTTCTTCTCCTTCTCCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20721725	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0039 a0001c0006t0039	a0001c0006t0039g0091 a0001c0006t0039g0091	1	196	0.0051	24	c.372 others(43): Show c.372-17792_372-17769dupTTTTTTTTTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20748944	C C	CATGTATG others(17): Show CATGTATGTGTGTATATATATGTAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01256.hp1 others(6): Show HG00140.hp2 HG01109.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG02258.hp2 HG03195.hp1 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0009 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0003 a0001c0005t0014 a0001c0005t0016 a0001c0005t0050 a0001c0006t0006 a0001c0006t0039	a0001c0001t0001g0094 a0001c0001t0009g0087 a0001c0001t0009g0089 others(6): Show a0001c0001t0001g0094 a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0002t0003g0150 a0001c0005t0014g0093 a0001c0005t0016g0086 a0001c0005t0050g0088 a0001c0006t0006g0092 a0001c0006t0039g0091	9	196	0.0459	24	c.468 others(41): Show c.468+9339_468+9340insGTATATATATGTATATGTATGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20748971	G G	GTATGTGT others(17): Show GTATGTGTATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp2 HG02257.hp2 others(5): Show HG01255.hp2 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02965.hp2 HG03471.hp2 HG03486.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0011 others(2): Show a0001c0001 a0001c0004 a0001c0011 a0001c0012 a0004c0016	a0001c0001t0018 a0001c0004t0001 a0001c0004t0004 others(4): Show a0001c0001t0018 a0001c0004t0001 a0001c0004t0004 a0001c0004t0037 a0001c0011t0004 a0001c0012t0022 a0004c0016t0001	a0001c0001t0018g0005 a0001c0004t0001g0099 a0001c0004t0004g0102 others(5): Show a0001c0001t0018g0005 a0001c0004t0001g0099 a0001c0004t0004g0102 a0001c0004t0004g0133 a0001c0004t0037g0098 a0001c0011t0004g0100 a0001c0012t0022g0135 a0004c0016t0001g0185	8	196	0.0408	24	c.468 others(41): Show c.468+9371_468+9372insATGTATATATATGTGTATATATAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20756804	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0050 a0001c0005t0050	a0001c0005t0050g0088 a0001c0005t0050g0088	1	196	0.0051	24	c.469 others(41): Show c.469-1780_469-1757dupCCTTCCTTCCTTCCTTCCTTCCTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18956.hp1 NA18966.hp2 others(1): Show HG02056.hp1 NA18956.hp1 NA18966.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 others(1): Show a0001c0002 a0001c0004 a0002c0003 a0002c0007	a0001c0002t0002 a0001c0004t0004 a0002c0003t0002 others(1): Show a0001c0002t0002 a0001c0004t0004 a0002c0003t0002 a0002c0007t0005	a0001c0002t0002g0046 a0001c0004t0004g0102 a0002c0003t0002g0079 others(1): Show a0001c0002t0002g0046 a0001c0004t0004g0102 a0002c0003t0002g0079 a0002c0007t0005g0061	4	196	0.0204	24	c.105 others(43): Show c.1055+2977_1055+3000dupTATATATATATATATATATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003367	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	196	0.0051	24	c.105 others(43): Show c.1055+2996_1055+2997insCACACACACACACACACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003369	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG01891.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0015 a0001c0004t0007 a0001c0001t0015 a0001c0004t0007	a0001c0001t0015g0186 a0001c0004t0007g0022 a0001c0001t0015g0186 a0001c0004t0007g0022	2	196	0.0102	24	c.105 others(43): Show c.1055+2998_1055+2999insCACACACACACACACACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp1 HG01255.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0032 a0001c0011t0004 a0001c0001t0032 a0001c0011t0004	a0001c0001t0032g0196 a0001c0011t0004g0100 a0001c0001t0032g0196 a0001c0011t0004g0100	2	196	0.0102	24	c.105 others(43): Show c.1055+3018_1055+3019insCACACACACACACACACACACACA	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(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02027.hp2 NA18992.hp2 HG01256.hp2 HG02027.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0001 a0001c0002t0003 a0001c0001t0027 a0001c0002t0001 a0001c0002t0003	a0001c0001t0027g0120 a0001c0002t0001g0108 a0001c0002t0003g0010 a0001c0001t0027g0120 a0001c0002t0001g0108 a0001c0002t0003g0010	3	196	0.0153	24	c.105 others(43): Show c.1055+3000_1055+3001insTATATATATATATATATATACACA	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(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03540.hp1 HG00673.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0026 a0001c0001t0023 a0001c0001t0026	a0001c0001t0023g0169 a0001c0001t0026g0058 a0001c0001t0023g0169 a0001c0001t0026g0058	2	196	0.0102	24	c.105 others(43): Show c.1055+3000_1055+3001insTATATATATATATATATATATACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21079976	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01978.hp1 others(4): Show HG00609.hp2 HG00621.hp2 HG01978.hp1 HG02965.hp2 NA18948.hp2 NA18966.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0007	a0001c0001t0018 a0001c0001t0024 a0001c0002t0003 others(3): Show a0001c0001t0018 a0001c0001t0024 a0001c0002t0003 a0001c0002t0045 a0001c0005t0050 a0002c0007t0005	a0001c0001t0018g0005 a0001c0001t0024g0152 a0001c0002t0003g0032 others(4): Show a0001c0001t0018g0005 a0001c0001t0024g0152 a0001c0002t0003g0032 a0001c0002t0045g0153 a0001c0005t0050g0088 a0002c0007t0005g0061 a0002c0007t0005g0062	7	196	0.0357	24	c.123 others(45): Show c.1236+14758_1236+14781dupGTGTGTGTGTGTGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL5_chrX_18420608_18645196	18470378	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAGAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	192	0.0052	24	c.-16 others(45): Show c.-162-36539_-162-36538insAAAAGAAAAAAAAAAAAAAAGAAG	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18481320	G G	GTTTCTTT others(17): Show GTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19081.hp2 HG03130.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0185 a0001c0001t0009g0133 a0001c0001t0004g0185 a0001c0001t0009g0133	2	192	0.0104	24	c.-16 others(45): Show c.-162-25587_-162-25564dupCTTTCTTTCTTTCTTTCTTTCTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(17): Show GCACGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0167 a0001c0001t0027g0167	1	192	0.0052	24	c.65- others(39): Show c.65-1620_65-1619insGCGCGCGCACACACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(17): Show GCACGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	192	0.0052	24	c.65- others(39): Show c.65-1620_65-1619insGCGCGCGCGCGCACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36681264	T T	TTTTCTTT others(17): Show TTTTCTTTCTCTCTTTCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00738.hp1 others(37): Show HG00099.hp1 HG00609.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01975.hp1 HG01978.hp1 HG02071.hp2 HG02074.hp1 HG02273.hp2 HG02300.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp1 HG03239.hp1 HG03471.hp1 HG03540.hp1 HG03710.hp2 HG03831.hp2 NA18747.hp1 NA18946.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18983.hp1 NA18990.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19058.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0012 a0003c0004t0001	a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0001g0251 others(29): Show a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0319 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0358 a0001c0001t0001g0368 a0001c0001t0001g0376 a0001c0001t0001g0378 a0001c0003t0001g0258 a0002c0002t0002g0005 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0101 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0167 a0002c0002t0004g0114 a0002c0002t0010g0029 a0002c0002t0012g0115 a0003c0004t0001g0336	40	454	0.0881	24	c.-6+ others(39): Show c.-6+2475_-6+2476insCTCTTTCTTTCCTTCTTTCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681264	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	454	0.0022	24	c.-6+ others(39): Show c.-6+2481_-6+2482insCTTTCTTTCTTTCTTTCTTTCTTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681273	T T	TCTCTTTC others(17): Show TCTCTTTCTTTCCTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	454	0.0022	24	c.-6+ others(39): Show c.-6+2475_-6+2476insCTCTTTCTTTCCTTCTTTCTTTCC	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2			chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0104 a0001c0001t0002g0103 a0001c0001t0012g0150 a0001c0001t0001g0104 a0001c0001t0002g0103 a0001c0001t0012g0150	3	416	0.0072	24	c.151 others(39): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0353 a0001c0001t0002g0246 a0001c0001t0002g0343 a0001c0001t0001g0353 a0001c0001t0002g0246 a0001c0001t0002g0343	3	404	0.0074	24	c.194 others(39): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981121	C C	CACGTATA others(17): Show CACGTATACGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	404	0.0025	24	c.194 others(41): Show c.194-9914_194-9913insATATATATATATATACGTATACGT	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG01167.hp1 others(23): Show HG00280.hp2 HG00621.hp2 HG01167.hp1 HG01978.hp1 HG02027.hp2 HG02145.hp2 HG02293.hp2 HG02602.hp1 HG02922.hp1 HG03041.hp2 HG03669.hp2 NA18954.hp2 NA18960.hp2 NA18968.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA19005.hp1 NA19010.hp1 NA19062.hp1 NA19070.hp2 NA19074.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 others(23): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0136 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0270 a0001c0001t0001g0331 a0001c0001t0002g0250 a0001c0001t0002g0317 a0001c0001t0002g0359 a0001c0001t0011g0167	26	404	0.0644	24	c.193 others(41): Show c.193+3504_193+3527dupTCTCTCTCTCTCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG02015.hp1 others(18): Show HG00423.hp1 HG00621.hp2 HG02015.hp1 HG02293.hp1 NA18949.hp2 NA18951.hp1 NA18963.hp2 NA18971.hp2 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA19000.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19079.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	21	410	0.0512	24	c.-18 others(35): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDNF_chr10_14814245_14843037	14826017	A A	AAGCAGAA others(17): Show AAGCAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	418	0.0024	24	c.244 others(39): Show c.244-398_244-397insCCTTCTCCTTCTCCTTCTTCTGCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826095	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGAAGAAGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	418	0.0024	24	c.244 others(39): Show c.244-476_244-475insGCTTCTTCTTCTTCTTCTTCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826095	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGAAGCAGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA20300.hp1 HG01993.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0340 a0001c0001t0001g0332 a0001c0001t0001g0340	2	418	0.0048	24	c.244 others(39): Show c.244-476_244-475insGCTGCTTCTTCTTCTTCTTCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDON_chr11_125951821_126067866	125974402	G G	GAGGGAGG others(17): Show GAGGGAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02451.hp1 HG02886.hp1 others(3): Show HG00558.hp2 HG02451.hp1 HG02886.hp1 HG03209.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0022 a0033	a0001c0001 a0002c0014 a0012c0059 others(2): Show a0001c0001 a0002c0014 a0012c0059 a0022c0044 a0033c0073	a0001c0001t0001 a0002c0014t0001 a0002c0014t0107 others(3): Show a0001c0001t0001 a0002c0014t0001 a0002c0014t0107 a0012c0059t0108 a0022c0044t0081 a0033c0073t0072	a0001c0001t0001g0174 a0002c0014t0001g0245 a0002c0014t0107g0326 others(3): Show a0001c0001t0001g0174 a0002c0014t0001g0245 a0002c0014t0107g0326 a0012c0059t0108g0327 a0022c0044t0081g0273 a0033c0073t0072g0125	6	334	0.0180	24	c.335 others(43): Show c.3356+3901_3356+3902insTCCTCCCTCCCTCCCTCCCTCCCT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(17): Show GCCTGCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	384	0.0026	24	c.810 others(39): Show c.810+277_810+278insGCCTTCCTTCCTTCCTTCCTTCCT	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(17): Show TTCCTTCCCTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp1 HG01243.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0062 a0001c0001t0004g0263 a0001c0001t0001g0062 a0001c0001t0004g0263	2	384	0.0052	24	c.810 others(39): Show c.810+340_810+341insTTCCCTCCTTCCCTCCCTCCCTCC	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(17): Show TTCCTTCCTTCCTTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18957.hp2 NA18966.hp2 others(1): Show HG00621.hp2 NA18957.hp2 NA18966.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0136 a0001c0001t0001g0151	4	384	0.0104	24	c.810 others(39): Show c.810+340_810+341insTTCCTTCCTTCCCTCCTTCCCTCC	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDT1_chr16_88798789_88814258	88799923	T T	TAAACTTG others(17): Show TAAACTTGGCCCCTGGCATGGCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0021 a0013c0022t0021	a0013c0022t0021g0029 a0013c0022t0021g0029	1	444	0.0023	24	c.-39 others(35): Show c.-3909_-3908insAAACTTGGCCCCTGGCATGGCTCC	CDT1	ENSG00000167513.9	transcript	ENST00000301019.9	protein_coding		3865		chr16	TogoVar
CDV3_chr3_133568686_133595261	133594433	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01071.hp2 others(1): Show HG01069.hp1 HG01071.hp1 HG01071.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0044 a0001c0001t0001g0014 a0001c0001t0001g0044	4	386	0.0104	24	c.63 others(35): Show c.6387_*6388insAAAAAAAAAAAAAAAAAAAAAAAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4173		chr3	TogoVar
CDYL2_chr16_80592907_80809598	80712187	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18974.hp1 NA18988.hp2 HG00423.hp2 NA18974.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0006t0008 a0001c0001t0006 a0001c0006t0008	a0001c0001t0006g0209 a0001c0006t0008g0076 a0001c0006t0008g0085 a0001c0001t0006g0209 a0001c0006t0008g0076 a0001c0006t0008g0085	3	258	0.0116	24	c.25- others(41): Show c.25-27059_25-27058insTATATATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80712215	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0139 a0001c0002t0034g0139	1	258	0.0039	24	c.25- others(41): Show c.25-27087_25-27086insGATATATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80790906	A A	AAGATACA others(17): Show AAGATACAGTCTCTGTCTCATGTCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0114 a0001c0001t0018g0114	1	258	0.0039	24	c.24+ others(41): Show c.24+13220_24+13243dupGGACATGAGACAGAGACTGTATCT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL_chr6_4771404_4960544	4819116	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA19012.hp1 NA18985.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0234 a0001c0001t0001g0082 a0001c0001t0001g0234	2	250	0.0080	24	c.24+ others(41): Show c.24+42333_24+42356dupCTCTCTCTCTCTCTCTCTCTCTCT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4895400	T T	TATGTGTA others(17): Show TATGTGTATATATGTGCATATGTAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01496.hp1 others(2): Show HG00099.hp1 HG00741.hp1 HG01496.hp1 HG02080.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0185 a0001c0001t0001g0249 a0001c0001t0002g0074 others(2): Show a0001c0001t0001g0185 a0001c0001t0001g0249 a0001c0001t0002g0074 a0001c0001t0002g0197 a0001c0001t0002g0250	5	250	0.0200	24	c.691 others(41): Show c.691+3023_691+3024insGTGTATATATGTGCATATGTACAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4895400	T T	TATGTGTA others(17): Show TATGTGTATATATGTGCATATGTTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG01167.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0006 a0001c0001t0001g0135 a0001c0001t0002g0006	2	250	0.0080	24	c.691 others(41): Show c.691+3023_691+3024insGTGTATATATGTGCATATGTTCAT	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(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02717.hp1 HG02080.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0180 a0001c0002t0001g0243 a0001c0001t0001g0180 a0001c0002t0001g0243	2	250	0.0080	24	c.691 others(41): Show c.691+8401_691+8402insGTGTGTATATATATATATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4927428	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0159 a0001c0002t0002g0159	1	250	0.0040	24	c.692 others(41): Show c.692-8078_692-8055dupGTGTGTGTGTGTGTGTGTGTGTGT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4940449	C C	CTTGGAGG others(17): Show CTTGGAGGCAAAGGACTTCATCGTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01496.hp2 HG01255.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0178 a0001c0001t0002g0190	2	250	0.0080	24	c.112 others(43): Show c.1121+2735_1121+2736insTTTGGAGGCAAAGGACTTCATCGT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM1_chr19_42502306_42533481	42513893	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20129.hp2 HG02723.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0129 a0002c0003t0004g0132 a0002c0003t0004g0129 a0002c0003t0004g0132	2	290	0.0069	24	c.124 others(43): Show c.1247-1438_1247-1415dupATATATATATATATATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM1_chr19_42502306_42533481	42513915	T T	TATATATA others(17): Show TATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG03209.hp2 others(1): Show HG02630.hp2 HG02818.hp1 HG03209.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0013 a0002c0003t0002 a0002c0004t0013	a0002c0003t0002g0170 a0002c0003t0002g0176 a0002c0003t0002g0188 others(1): Show a0002c0003t0002g0170 a0002c0003t0002g0176 a0002c0003t0002g0188 a0002c0004t0013g0183	4	290	0.0138	24	c.124 others(43): Show c.1247-1437_1247-1436insTTATTTATATATATATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM1_chr19_42502306_42533481	42513917	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0133 a0001c0001t0012g0133	1	290	0.0035	24	c.124 others(43): Show c.1247-1439_1247-1438insTTATATATATATATATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)