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
CPNE7_chr16_89570758_89602246	89587744	G G	GCCCCCGT others(31): Show GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0231 a0003c0006t0003g0231	1	348	0.0029	38	c.927 others(53): Show c.927+672_927+673insTACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCGTGTCA others(31): Show CCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0151 a0001c0002t0004g0151	1	348	0.0029	38	c.927 others(53): Show c.927+690_927+691insGCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCGTGTTA others(31): Show CCGTGTTACCCACAGATACACGGCCCCCCGTGTTACCCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0003 a0002c0017t0003	a0002c0017t0003g0136 a0002c0017t0003g0136	1	348	0.0029	38	c.927 others(53): Show c.927+688_927+689insTACCCACAGATACACGGCCCCCCGTGTTAC CCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587793	C C	CCCGCGTG others(31): Show CCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0015 a0001c0008t0002g0015	1	348	0.0029	38	c.927 others(53): Show c.927+693_927+694insGCGTGTCACCCACAGATACACGGCCCCCCG TGTCAGCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CCGTGTCA others(31): Show CCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18947.hp2 HG02735.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0233 a0001c0002t0004g0134 a0001c0002t0003g0233 a0001c0002t0004g0134	2	348	0.0058	38	c.928 others(53): Show c.928-719_928-718insCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587977	C C	CCGTGTCA others(31): Show CCGTGTCACCCACAGATACATGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	348	0.0029	38	c.928 others(53): Show c.928-679_928-678insTGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588117	G G	GCCCCCGT others(31): Show GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02976.hp1 HG02258.hp2 HG02717.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0335 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0335	3	348	0.0086	38	c.928 others(53): Show c.928-553_928-516dupCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(31): Show GTATATATATGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0080 a0001c0002t0023g0080	1	342	0.0029	38	c.915 others(55): Show c.915-1906_915-1905insTATATATATATATATATATATATATACA CATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp1 HG02647.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0333 a0001c0001t0001g0328 a0001c0001t0001g0333	2	342	0.0059	38	c.722 others(53): Show c.722+411_722+412insTATATATATATATATATATATATATATATA TATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPO_chr2_206934518_206974474	206943682	A A	AGATAGAT others(31): Show AGATAGATAGATAGATAGATAGATAGATGATGGATAGAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0081 a0002c0003t0001g0081	1	422	0.0024	38	c.68+ others(53): Show c.68+4042_68+4043insGATGGATAGATGATAGATAGATAGATAGAT AGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206943686	A A	AGATAGAT others(31): Show AGATAGATAGATAGATAGATAGATAGATGATGGATAGAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	422	0.0024	38	c.68+ others(53): Show c.68+4046_68+4047insGATGGATAGATGATAGATAGATAGATAGAT AGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(31): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	290	0.0035	38	c.289 others(57): Show c.289+14928_289+14929insCTCTCTCTCTCTCTCTCTATATATAT ATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(31): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0059 a0002c0002t0059	a0002c0002t0059g0011 a0002c0002t0059g0011	1	290	0.0035	38	c.289 others(57): Show c.289+14928_289+14929insCTCTCTCTCTCTCTCTATATATATAT ATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(31): Show TATATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	290	0.0035	38	c.289 others(57): Show c.289+14928_289+14929insCTCTCTCTCTCTCTATATATATATAT ATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0010 a0004c0004t0009g0010	1	290	0.0035	38	c.289 others(57): Show c.289+14928_289+14929insCTCTCTCTATATATATATATATATAT ATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0032 a0004c0004t0032	a0004c0004t0032g0078 a0004c0004t0032g0078	1	290	0.0035	38	c.289 others(57): Show c.289+14928_289+14929insCTCTATATATATATATATATATATAT ATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPSF2_chr14_92116969_92177145	92173341	A A	ATATACAT others(31): Show ATATACATACACGTATATATATATGTATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0194 a0001c0001t0044g0194	1	388	0.0026	38	c.11 others(51): Show c.11597_*11598insTATACATACACGTATATATATATGTATATATA TATACG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1197		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173341	A A	ATATACAT others(31): Show ATATACATACACGTATATATATATGTGTATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0248 a0001c0001t0014g0250 a0001c0001t0014g0248 a0001c0001t0014g0250	2	388	0.0052	38	c.11 others(51): Show c.11597_*11598insTATACATACACGTATATATATATGTGTATATA TATACG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1197		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173343	A A	ATATATAC others(31): Show ATATATACACGTATATATATATGTATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0178 a0001c0001t0090g0178	1	388	0.0026	38	c.11 others(51): Show c.11599_*11600insTATATACACGTATATATATATGTATATATATA TATACG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1199		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173344	T T	TACACACA others(31): Show TACACACACACGTATATATATATGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	388	0.0026	38	c.11 others(51): Show c.11600_*11601insACACACACACGTATATATATATGTATATATAT ATATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1200		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173344	T T	TATACACA others(31): Show TATACACACACGTATATATATATGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	388	0.0026	38	c.11 others(51): Show c.11600_*11601insATACACACACGTATATATATATGTATATATAT ATATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1200		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173344	T T	TATATACA others(31): Show TATATACACACGTATATATATATGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	388	0.0026	38	c.11 others(51): Show c.11600_*11601insATATACACACGTATATATATATGTATATATAT ATATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1200		chr14	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18522.hp2 HG02083.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0043 a0001c0001t0002g0044	2	364	0.0055	38	c.103 others(55): Show c.103+1490_103+1491insATATATATATATATATATATATATATGT TTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1C_chr19_49686116_49718731	49702118	T T	TTATAAAT others(31): Show TTATAAATTATAAATATATATTTATAAATTATAAATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	350	0.0029	38	c.693 others(53): Show c.693+487_693+488insAAATTATAAATATATATTTATAAATTATAA ATATATAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02300.hp2 HG01255.hp2 HG02300.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0002 a0005c0005t0001 a0005c0005t0002	a0005c0005t0001g0324 a0005c0005t0002g0338 a0005c0005t0001g0324 a0005c0005t0002g0338	2	360	0.0056	38	c.689 others(55): Show c.6890-563_6890-562insATATATATATATATATATATATATATAT ATATGTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	360	0.0028	38	c.689 others(55): Show c.6890-563_6890-562insATATATATATATATATATATATATATAT ATGTGTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0322 a0005c0005t0002g0322	1	360	0.0028	38	c.689 others(55): Show c.6890-563_6890-562insATATATATATATATATATATATATATAT GTGTGTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458071	C C	CACACACA others(31): Show CACACACACACACACACATACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0265 a0001c0003t0001g0265	1	378	0.0027	38	c.58+ others(53): Show c.58+3612_58+3613insTACACACACACACACACACATACACACACA CACACACA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458073	C C	CACACACA others(31): Show CACACACACACACACATACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0211 a0001c0003t0003g0211	1	378	0.0027	38	c.58+ others(53): Show c.58+3612_58+3613insTACACACACACACACACACACATACACACA CACACACA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98930285	T T	TCCGTCCC others(31): Show TCCGTCCCCACCCTCTGTACCGTGTCCCCTACCCCATCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03490.hp2 NA20752.hp2 HG03486.hp1 HG03490.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0003c0003 a0001c0001 a0001c0012 a0003c0003	a0001c0001t0001 a0001c0012t0001 a0003c0003t0002 a0001c0001t0001 a0001c0012t0001 a0003c0003t0002	a0001c0001t0001g0295 a0001c0012t0001g0202 a0003c0003t0002g0004 a0001c0001t0001g0295 a0001c0012t0001g0202 a0003c0003t0002g0004	3	316	0.0095	38	c.-11 others(55): Show c.-11+5615_-11+5652dupGGATGGGGTAGGGGACACGGTACAGAGG GTGGGGACGG	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRACD_chr4_56044098_56335609	56214681	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp1 HG01891.hp2 HG03130.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0004 a0011c0011t0009 a0001c0001t0004 a0011c0011t0009	a0001c0001t0004g0042 a0011c0011t0009g0025 a0001c0001t0004g0042 a0011c0011t0009g0025	2	250	0.0080	38	c.-18 others(59): Show c.-189+35252_-189+35253insCTCTCTCTCTCTCTATATATATAT ATATATATATATAT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56286525	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0027 a0027	a0027c0033 a0027c0033	a0027c0033t0006 a0027c0033t0006	a0027c0033t0006g0241 a0027c0033t0006g0241	1	250	0.0040	38	c.-16 others(57): Show c.-16-11667_-16-11666insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01361.hp2 HG01891.hp2 others(13): Show HG00408.hp1 HG01361.hp2 HG01891.hp2 HG02135.hp2 HG02572.hp1 HG03098.hp2 HG03453.hp2 HG03654.hp2 HG03942.hp1 HG06807.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18983.hp1 NA19056.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0046	a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0078 others(13): Show a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0002g0091 a0001c0001t0003g0104 a0001c0001t0003g0130 a0001c0001t0003g0185 a0001c0001t0007g0114 a0001c0001t0009g0178 a0001c0001t0011g0197 a0001c0001t0013g0070 a0001c0001t0020g0126 a0001c0001t0022g0066 a0001c0001t0024g0132 a0001c0001t0046g0019	16	198	0.0808	38	c.4-1 others(51): Show c.4-1482_4-1481insATATATATATATATATATATATATATATATAT ATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRIP2_chr14_105469821_105485162	105479793	C C	CGGGCAGA others(31): Show CGGGCAGAGCACCATGCCCATCCCCGAGTCTCTGGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0211 a0001c0001t0005g0211	1	316	0.0032	38	c.14 others(47): Show c.141_*178dupGGGCAGAGCACCATGCCCATCCCCGAGTCTCTGGTG TG	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding	8/8	179	INFO_REALIGN_3_PRIME	chr14	TogoVar
CRLF2_chrX_1185490_1217649	1213037	T T	TCCCCTCT others(31): Show TCCCCTCTCCCCTCCCCTTCCCCCTCTCCCCTCCCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0076 a0002c0004t0001g0076	1	167	0.0060	38	c.-40 others(47): Show c.-404_-403insGAAGGGGAGGGGAGAGGGGGAAGGGGAGGGGAGAGG GG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		389		chrX	TogoVar
CRMP1_chr4_5815764_5898086	5868290	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATCTATATATAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01257.hp1 HG03098.hp2 others(1): Show HG01167.hp1 HG01257.hp1 HG03098.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0018 a0003c0019 a0001c0003 a0003c0018 a0003c0019	a0001c0003t0002 a0003c0018t0002 a0003c0018t0004 others(1): Show a0001c0003t0002 a0003c0018t0002 a0003c0018t0004 a0003c0019t0008	a0001c0003t0002g0197 a0003c0018t0002g0175 a0003c0018t0004g0209 others(1): Show a0001c0003t0002g0197 a0003c0018t0002g0175 a0003c0018t0004g0209 a0003c0019t0008g0208	4	314	0.0127	38	c.382 others(55): Show c.382-1535_382-1534insCTATATATAGATATATATATATATATAT ATATATATAT	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	1/13			chr4	TogoVar
CRMP1_chr4_5815764_5898086	5868290	T T	TATCTATA others(31): Show TATCTATATATATATATATATATATATATCTATATATAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0001 a0003c0025t0001	a0003c0025t0001g0195 a0003c0025t0001g0195	1	314	0.0032	38	c.382 others(55): Show c.382-1535_382-1534insCTATATATAGATATATATATATATATAT ATATATAGAT	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	1/13			chr4	TogoVar
CRTC1_chr19_18678680_18787333	18689583	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	274	0.0037	38	c.126 others(55): Show c.126+5758_126+5759insATATATATATATATATATATATATATAT ATATATGTAT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRYBB2_chr22_25214639_25236869	25218847	A A	AGAAAGAA others(31): Show AGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA19054.hp1 HG00438.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	464	0.0043	38	c.-84 others(47): Show c.-846_-845insGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAA GG	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		791		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18940.hp2 HG02559.hp1 NA18940.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0017 a0001c0001 a0014c0017	a0001c0001t0001 a0014c0017t0003 a0001c0001t0001 a0014c0017t0003	a0001c0001t0001g0193 a0014c0017t0003g0053 a0001c0001t0001g0193 a0014c0017t0003g0053	2	272	0.0074	38	c.173 others(57): Show c.173+16567_173+16568insATATATATATATATATATATATATAT ATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSF1R_chr5_150048295_150091554	150084392	A A	AAAGAAAG others(31): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0008 a0004c0009t0008	a0004c0009t0008g0137 a0004c0009t0008g0137	1	406	0.0025	38	c.49+ others(53): Show c.49+1986_49+1987insCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1314319	A A	ACACTGCA others(31): Show ACACTGCACCTGCCTAACCGCACTGCACCTGCCCAACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0152 a0002c0004t0007g0152	1	159	0.0063	38	c.48 others(49): Show c.4840_*4841insCACTGCACCTGCCTAACCGCACTGCACCTGCCCA ACCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4385		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314319	A A	ACACTGCA others(31): Show ACACTGCACCTGCCTAACCGCACTGCACCTGCCCAACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	159	0.0063	38	c.48 others(49): Show c.4840_*4841insCACTGCACCTGCCTAACCGCACTGCACCTGCCCA ACCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4385		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314327	C C	CCTGCCCA others(31): Show CCTGCCCAACCACACTGCACCTGCCCAACCCCACTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0006 a0004c0010t0006	a0004c0010t0006g0033 a0004c0010t0006g0033	1	159	0.0063	38	c.48 others(49): Show c.4848_*4849insCTGCCCAACCACACTGCACCTGCCCAACCCCACT GCAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4393		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314492	A A	ACTGCACC others(31): Show ACTGCACCTGCCCAACCACACAGCATCTGCCCAACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03139.hp1 HG01884.hp2 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0007 a0002c0003t0001g0008	2	159	0.0126	38	c.50 others(49): Show c.5013_*5014insCTGCACCTGCCCAACCACACAGCATCTGCCCAAC CACT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4558		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314737	C C	CCACTGTG others(31): Show CCACTGTGCCTGCCCAACCCCACTGTGCCTGCCCAACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0157 a0002c0003t0002g0157	1	159	0.0063	38	c.52 others(49): Show c.5258_*5259insCACTGTGCCTGCCCAACCCCACTGTGCCTGCCCA ACCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4803		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314744	A A	ACCTGCCC others(31): Show ACCTGCCCAACCGCACTGCACCTGCCCAACCCCACTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0004 a0011c0021t0004	a0011c0021t0004g0074 a0011c0021t0004g0074	1	159	0.0063	38	c.52 others(49): Show c.5265_*5266insCCTGCCCAACCGCACTGCACCTGCCCAACCCCAC TGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4810		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314756	C C	CCACTGCA others(31): Show CCACTGCACCTGCCCAACCCCACTGTGCCTGCTCAACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0128 a0001c0007t0002g0128	1	159	0.0063	38	c.52 others(49): Show c.5277_*5278insCACTGCACCTGCCCAACCCCACTGTGCCTGCTCA ACCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4822		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314797	C C	CTGCACCT others(31): Show CTGCACCTGCCCAATTGCACTGCACCTGCCCAACCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0141 a0002c0003t0002g0141	1	159	0.0063	38	c.53 others(49): Show c.5318_*5319insTGCACCTGCCCAATTGCACTGCACCTGCCCAACC CCAA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4863		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314815	A A	ACTTCACC others(31): Show ACTTCACCTGCCCAACCGCACTGCACTTGCCCAACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0149 a0002c0003t0002g0149	1	159	0.0063	38	c.53 others(49): Show c.5336_*5337insCTTCACCTGCCCAACCGCACTGCACTTGCCCAAC CCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4881		chrX	TogoVar

Search by Variant

Search

Search Results (Total: 5880 hits)