Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	314	0.0032	45	c.651 others(64): Show c.651-44503_651-44502insATATATATATATATATATATATATAT ATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CGB3_chr19_49017869_49029333	49027817	A A	AGTACAGT others(38): Show AGTACAGTGGCACAATCCTGGCTCACTGTAGCGCCTGCCTCCTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0013 a0001c0002t0009g0013	1	391	0.0026	45	c.-38 others(56): Show c.-3847_-3846insCCCAGGAGGCAGGCGCTACAGTGAGCCAGGATTG TGCCACTGTAC	CGB3	ENSG00000104827.12	transcript	ENST00000357383.4	protein_coding		3485		chr19	TogoVar
CGREF1_chr2_27095594_27124128	27116910	T T	TCTCTCTC others(38): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	352	0.0028	45	c.-12 others(62): Show c.-12+1935_-12+1936insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHCHD6_chr3_126699240_126965420	126821674	C C	CATCCCAC others(38): Show CATCCCACCTCATGCTTGTTCTTGTCTGTCTGTTTGATTATAACTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	216	0.0046	45	c.412 others(64): Show c.412-30927_412-30883dupATCCCACCTCATGCTTGTTCTTGTCT GTCTGTTTGATTATAACTA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862708	T T	TCCTCCTC others(38): Show TCCTCCTCCTCCACCATCACCACCTCCTCCCCCTCTACCATCACCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	216	0.0046	45	c.495 others(62): Show c.495+9988_495+9989insCACCATCACCACCTCCTCCCCCTCTACC ATCACCACCTCCTCCTC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863037	C C	CTCCTCCA others(38): Show CTCCTCCATCACCACCTCCTCCTCCTCCATCACCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(42): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00639.hp1 HG00735.hp1 HG01109.hp1 HG01109.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02559.hp1 HG02559.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03942.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18980.hp2 NA18995.hp1 NA18998.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19068.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(42): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0002g0095 a0003c0004t0001g0028 a0003c0004t0001g0029	45	216	0.2083	45	c.495 others(64): Show c.495+10307_495+10308insTCCTCCATCACCACCTCCTCCTCCTC CATCACCTCCTCCTCCTCT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(38): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02135.hp1 NA18975.hp2 others(2): Show HG00673.hp1 HG02135.hp1 NA18975.hp2 NA18989.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0133 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0133 a0001c0001t0001g0140	5	366	0.0137	45	c.-36 others(56): Show c.-3694_-3693insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	324	0.0031	45	c.853 others(62): Show c.853-4721_853-4720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD7_chr8_60673740_60873028	60678770	G G	GGCGGCGG others(38): Show GGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0084 a0001c0002t0020g0085 a0001c0002t0020g0084 a0001c0002t0020g0085	2	236	0.0085	45	c.-46 others(54): Show c.-467_-466insGGCAGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGC GGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHGB_chr20_5906510_5930353	5917835	C C	CTTATTTT others(38): Show CTTATTTTATCTTAACACACTCTATCAGATTATCTTATTTTATCTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0155 a0007c0007t0004g0155	1	440	0.0023	45	c.190 others(60): Show c.190+916_190+917insTTATTTTATCTTAACACACTCTATCAGATT ATCTTATTTTATCTT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding	3/4			chr20	TogoVar
CHGB_chr20_5906510_5930353	5917835	C C	CTTATTTT others(38): Show CTTATTTTATCTTATTTAAAAATCTTATTTTATCTTATTTTATCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03516.hp2 HG02630.hp2 HG03516.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0156 a0007c0007t0004g0157 a0007c0007t0004g0156 a0007c0007t0004g0157	2	440	0.0046	45	c.190 others(60): Show c.190+916_190+917insTTATTTTATCTTATTTAAAAATCTTATTTT ATCTTATTTTATCTT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding	3/4			chr20	TogoVar
CHL1_chr3_191763_414417	261929	C C	CAGATCTA others(38): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02293.hp2 HG01261.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0022 a0002c0002t0003g0256 a0002c0002t0001g0022 a0002c0002t0003g0256	2	290	0.0069	45	c.-95 others(64): Show c.-95+17642_-95+17686dupTAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	261929	C C	CAGATCTA others(38): Show CAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG03130.hp2 HG02109.hp2 HG02622.hp1 HG03130.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0008 a0004c0004t0001 a0003c0003t0008 a0004c0004t0001	a0003c0003t0008g0076 a0004c0004t0001g0044 a0004c0004t0001g0045 a0003c0003t0008g0076 a0004c0004t0001g0044 a0004c0004t0001g0045	3	290	0.0103	45	c.-95 others(64): Show c.-95+17253_-95+17254insTACAGGGCAGGATTCACACGTTTAAG CCTAGATCTACACAGTACT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	261946	C C	CACAGGGC others(38): Show CACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACATAGTACTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0050 a0011c0011t0050	a0011c0011t0050g0089 a0011c0011t0050g0089	1	290	0.0035	45	c.-95 others(64): Show c.-95+17291_-95+17292insTAGTACTTACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	261991	C C	CACAGGGC others(38): Show CACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0008 a0002c0002t0004g0008	1	290	0.0035	45	c.-95 others(64): Show c.-95+17343_-95+17344insTACAGGGCAGGATTCACACGTTTAAG CCTAGATCTACACAGTACT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262126	C C	CACAGGGC others(38): Show CACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0043 a0007c0006t0001g0043	1	290	0.0035	45	c.-95 others(64): Show c.-95+17478_-95+17479insTACAGGGCAGGATTCACACGTTTAAG CCTAGATCTACACAGTACT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262334	T T	TAGATCTA others(38): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	290	0.0035	45	c.-95 others(64): Show c.-95+17732_-95+17776dupCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262334	T T	TAGATCTA others(38): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACATGTTTAAGCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0236 a0004c0004t0008g0236	1	290	0.0035	45	c.-95 others(64): Show c.-95+17676_-95+17677insTGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262345	A A	AGTACTCA others(38): Show AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0058 a0003c0003t0058	a0003c0003t0058g0208 a0003c0003t0058g0208	1	290	0.0035	45	c.-95 others(64): Show c.-95+17697_-95+17698insTGTACTCACAGGGCAGGATTCACACG TTTAAGCCCAGATCTACAC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHODL_chr21_18239833_18272370	18251628	T T	TTTTTATT others(38): Show TTTTTATTTTAATATATAAAATATTTATTTATTTTAATATATAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0291 a0001c0001t0005g0291	1	402	0.0025	45	c.80- others(60): Show c.80-4880_80-4879insTTTATTTTAATATATAAAATATTTATTTAT TTTAATATATAAAAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRM3_chr1_239381568_239920450	239385815	C C	CTCTCTTT others(38): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0095 a0001c0001t0014g0095	1	116	0.0086	45	c.-19 others(56): Show c.-1933_-1932insTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTT CTTTCTTTCTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		752		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239662893	C C	CTCCTCTT others(38): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01109.hp1 others(8): Show HG00609.hp2 HG00738.hp2 HG01109.hp1 HG01256.hp1 HG01261.hp1 HG02083.hp2 HG03195.hp1 HG03471.hp2 NA18939.hp2 NA19000.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0028 a0001c0001t0031 a0001c0001t0038 a0001c0001t0043	a0001c0001t0001g0005 a0001c0001t0002g0074 a0001c0001t0007g0068 others(8): Show a0001c0001t0001g0005 a0001c0001t0002g0074 a0001c0001t0007g0068 a0001c0001t0008g0067 a0001c0001t0008g0072 a0001c0001t0010g0110 a0001c0001t0018g0022 a0001c0001t0028g0017 a0001c0001t0031g0116 a0001c0001t0038g0032 a0001c0001t0043g0046	11	116	0.0948	45	c.-24 others(66): Show c.-249-15291_-249-15290insCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874285	G G	GTATATAT others(38): Show GTATATATATATATATATATATCTATATACACAGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	116	0.0086	45	c.-19 others(64): Show c.-19-33127_-19-33126insCTATATACACAGTATATATATATATA TATATATATATATATATAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHST1_chr11_45642689_45670622	45669148	A A	AGAAGTGA others(38): Show AGAAGTGAATTGAGCCTCCAACTGCGTCTCCTTTTTCAGACATGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	386	0.0026	45	c.-41 others(56): Show c.-4198_-4197insGGCATGTCTGAAAAAGGAGACGCAGTTGGAGGCT CAATTCACTTC	CHST1	ENSG00000175264.8	transcript	ENST00000308064.7	protein_coding		3527		chr11	TogoVar
CHST8_chr19_33616953_33778506	33618970	T T	TGCCCAGC others(38): Show TGCCCAGCCTGTTCTGGTTCCTCTCATGGCAACAGATGGAAGGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	254	0.0039	45	c.-34 others(56): Show c.-3490_-3489insGCCCAGCCTGTTCTGGTTCCTCTCATGGCAACAG ATGGAAGGTTC	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		2982		chr19	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(38): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	254	0.0039	45	c.131 others(64): Show c.131-13890_131-13889insAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIT_chr12_119680791_119882320	119731840	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0162 a0002c0004t0011g0162	1	236	0.0042	45	c.335 others(64): Show c.3351-1211_3351-1210insGTATATATATATATATATATATATAT ATATATATATATATATATA	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	26/47			chr12	TogoVar
CLASP2_chr3_33491245_33723254	33626835	A A	ATTATATC others(38): Show ATTATATCAATATATTCTCCAGAAAGAAATGTTACCTATCAGACTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02647.hp2 others(7): Show HG01884.hp1 HG02622.hp2 HG02647.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03579.hp2 HG06807.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0135 a0001c0001t0004g0172 others(7): Show a0001c0001t0004g0016 a0001c0001t0004g0135 a0001c0001t0004g0172 a0001c0001t0004g0213 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0233	10	278	0.0360	45	c.103 others(62): Show c.1035+108_1035+152dupGAGTCTGATAGGTAACATTTCTTTCTGG AGAATATATTGATATAA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	10/38			chr3	TogoVar
CLDN8_chr21_30209006_30221097	30210304	T T	TATATATA others(38): Show TATATATATATATGTATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18954.hp2 HG02155.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	466	0.0043	45	c.49 others(56): Show c.4943_*4944insGTACCTTGAATTAGAATTAGGGAGACTATATACA TATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3701		chr21	TogoVar
CLMN_chr14_95176940_95324908	95245180	A A	ATATATAT others(38): Show ATATATATATATAAAATATATATATATATATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0160 a0001c0001t0015g0160	1	276	0.0036	45	c.83- others(62): Show c.83-15048_83-15047insATATATATATATATAATATATATATATA TATTTTATATATATATA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMN_chr14_95176940_95324908	95245194	A A	AATATATA others(38): Show AATATATATATATATATTATATATATATATATTATATATATATATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	276	0.0036	45	c.83- others(62): Show c.83-15062_83-15061insAATATATATATATAATATATATATATAT AATATATATATATATAT	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLN8_chr8_1758789_1791570	1785338	A A	ATTACGGT others(38): Show ATTACGGTGGCACAGGCGGCGTGGGGTTAGACAGGTACCGGTCAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG02615.hp2 HG03130.hp2 others(5): Show HG01081.hp1 HG02615.hp2 HG03130.hp2 HG03225.hp1 HG03516.hp2 NA18522.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0020 a0001c0001t0027 a0001c0001t0062 others(2): Show a0001c0001t0020 a0001c0001t0027 a0001c0001t0062 a0001c0001t0063 a0001c0007t0106	a0001c0001t0020g0029 a0001c0001t0020g0172 a0001c0001t0027g0138 others(4): Show a0001c0001t0020g0029 a0001c0001t0020g0172 a0001c0001t0027g0138 a0001c0001t0027g0139 a0001c0001t0062g0029 a0001c0001t0063g0087 a0001c0007t0106g0143	8	413	0.0194	45	c.48 others(56): Show c.4815_*4816insTTTACGGTGGCACAGGCGGCGTGGGGTTAGACAG GTACCGGTCAG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding	3/3	4816	INFO_REALIGN_3_PRIME	chr8	TogoVar
CLN8_chr8_1758789_1791570	1785338	A A	ATTACGGT others(38): Show ATTACGGTGGCACAGGCGGCGTGGGGTTAGACAGGTACTGGTCAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0066 a0004c0004t0066	a0004c0004t0066g0134 a0004c0004t0066g0134	1	413	0.0024	45	c.48 others(56): Show c.4808_*4809insTGGTCAGTTTACGGTGGCACAGGCGGCGTGGGGT TAGACAGGTAC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding	3/3	4809	INFO_REALIGN_3_PRIME	chr8	TogoVar
CLN8_chr8_1758789_1791570	1785580	G G	GGCGTGGG others(38): Show GGCGTGGGGTTAGACAGGTACCGGTCAGATTACGGTGGCACAGGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02970.hp1 HG03139.hp1 HG02818.hp1 HG02970.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0060 a0003c0003t0026 a0003c0003t0060	a0003c0003t0026g0052 a0003c0003t0060g0141 a0003c0003t0026g0052 a0003c0003t0060g0141	3	413	0.0073	45	c.50 others(56): Show c.5057_*5058insAGCGTGGGGTTAGACAGGTACCGGTCAGATTACG GTGGCACAGGC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding	3/3	5058	INFO_REALIGN_3_PRIME	chr8	TogoVar
CLNK_chr4_10481395_10689768	10682507	A A	ACATCCTT others(38): Show ACATCCTTCCACCCCCCCATAACATCACAAACCCTAACCAACCCAC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0296 a0001c0001t0005g0296	1	320	0.0031	45	c.-43 others(62): Show c.-43+2160_-43+2161insGTGGGTTGGTTAGGGTTTGTGATGTTAT GGGGGGGTGGAAGGATG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	1/18			chr4	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	408	0.0025	45	c.253 others(62): Show c.253+3142_253+3143insAAATATATATATATATATATATATATAT ATATATATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATTATT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	408	0.0025	45	c.253 others(62): Show c.253+3142_253+3143insAATAATATATATATATATATATATATAT ATATATATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CNBD1_chr8_86861415_87387859	87136798	T T	TTTATATT others(38): Show TTTATATTAAATATAAATATATATATTTATATTATATATAAATATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	152	0.0066	45	c.432 others(64): Show c.432-69194_432-69193insTATATTAAATATAAATATATATATTT ATATTATATATAAATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136798	T T	TTTATATT others(38): Show TTTATATTATATATAAATATATATATTTATATTAAATATAAATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02809.hp2 HG02055.hp1 HG02622.hp1 HG02809.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0021 a0002c0002t0001g0091 a0003c0004t0001g0148 a0001c0001t0001g0021 a0002c0002t0001g0091 a0003c0004t0001g0148	3	152	0.0197	45	c.432 others(64): Show c.432-69194_432-69193insTATATTATATATAAATATATATATTT ATATTAAATATAAATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(38): Show TTCTTTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0263 a0001c0018t0001g0263	1	360	0.0028	45	c.43 others(56): Show c.4376_*4377insGAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAA AGAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(38): Show TTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	360	0.0028	45	c.43 others(56): Show c.4376_*4377insGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAA AGAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(38): Show TTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0020 a0002c0006t0001g0020	1	360	0.0028	45	c.43 others(56): Show c.4376_*4377insGAAAGAAGGAAAGAAAGAAAGAAAGGAAAGAAAG AAAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(38): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	223	0.0045	45	c.-42 others(56): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54134016	T T	TCCCCTCT others(38): Show TCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	223	0.0045	45	c.-40 others(56): Show c.-4028_-4027insCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCC CTCTCTCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3745		chr19	TogoVar
CNR2_chr1_23865515_23918362	23869244	A A	AAGGAAGG others(38): Show AAGGAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	268	0.0037	45	c.52 others(56): Show c.5290_*5291insCCTTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCT CCTTCCTTCCT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding		1270		chr1	TogoVar
CNR2_chr1_23865515_23918362	23899921	G G	GAAAAGAA others(38): Show GAAAAGAAAAAAAAGAAAGAAAAGAAAGAAAGAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp2 HG02809.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0028 a0004c0004t0020 a0001c0001t0028 a0004c0004t0020	a0001c0001t0028g0259 a0004c0004t0020g0262 a0001c0001t0028g0259 a0004c0004t0020g0262	2	268	0.0075	45	c.-46 others(64): Show c.-46+13324_-46+13325insTTCCTTCCTTCCCTCTTTCTTTCTTT TCTTTCTTTTTTTTCTTTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTN5_chr11_99015949_100363885	99338919	G G	GATATATA others(38): Show GATATATATATATATATATATATATATATATATATATCTGTGATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0034 a0003c0003t0007g0034	1	66	0.0152	45	c.-71 others(64): Show c.-71+13463_-71+13464insATATATATCTGTGATATATATATATA TATATATATATATATATAT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1245225	T T	TAACATAT others(38): Show TAACATATATATATATATATATAACATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0215 a0001c0005t0001g0215	1	232	0.0043	45	c.358 others(64): Show c.358+17233_358+17234insACATATATATATATATATATAACATA TATATATATATATATAACA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	147470520	G G	GCTATGAT others(38): Show GCTATGATAGCGTCTTGGATTAGGGTAATAGCAGTAGAGATGGTAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	45	c.167 others(66): Show c.1671-15406_1671-15405insCGTCTTGGATTAGGGTAATAGCAG TAGAGATGGTATCTATGATAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP5_chr2_124020287_124926219	124304464	G G	GGAATTAT others(38): Show GGAATTATATATATATATATATATATATAGGAATTATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp2 HG03130.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0003 a0001c0002 a0006c0003	a0001c0002t0001 a0006c0003t0008 a0001c0002t0001 a0006c0003t0008	a0001c0002t0001g0064 a0006c0003t0008g0035 a0001c0002t0001g0064 a0006c0003t0008g0035	2	64	0.0313	45	c.381 others(64): Show c.381+62073_381+62074insATTATATATATATATATATATATATA GGAATTATATATATATAGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 2640 hits)