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
ELOVL2_chr6_10975759_11049305	10978304	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0029 a0001c0001t0010g0029	1	380	0.0026	29	c.54 others(40): Show c.5476_*5477insTATATATATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2454		chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084084	G G	GATATATA others(22): Show GATATATAACATATATATGATATATATGAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01975.hp2 HG02723.hp1 others(4): Show HG00738.hp1 HG01975.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0028 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0028 a0001c0001t0077	a0001c0001t0007g0257 a0001c0001t0009g0019 a0001c0001t0009g0021 others(4): Show a0001c0001t0007g0257 a0001c0001t0009g0019 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0028g0049 a0001c0001t0028g0247 a0001c0001t0077g0056	7	338	0.0207	29	c.221 others(48): Show c.221+21384_221+21412dupATCATATATATCATATATATGTTATA TAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084135	A A	ATGATATA others(22): Show ATGATATATATGATATATATAACATATATG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	338	0.0030	29	c.221 others(48): Show c.221+21333_221+21361dupCATATATGTTATATATATCATATATA TCA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117901	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp2 NA18949.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0062 a0001c0001t0006 a0001c0001t0062	a0001c0001t0006g0117 a0001c0001t0062g0116 a0001c0001t0006g0117 a0001c0001t0062g0116	2	338	0.0059	29	c.90- others(46): Show c.90-12274_90-12273insATATATATATATATATATATATATATAT A	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19067.hp2 HG03516.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0053 a0001c0001t0034 a0001c0001t0053	a0001c0001t0034g0043 a0001c0001t0053g0237 a0001c0001t0034g0043 a0001c0001t0053g0237	2	338	0.0059	29	c.90- others(46): Show c.90-12276_90-12275insATATATATATATATATATTTTTTTTTTT T	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	338	0.0030	29	c.90- others(46): Show c.90-12276_90-12275insATATATATATATATATATATTTTTTTTT T	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG04204.hp1 NA18949.hp1 others(1): Show HG03491.hp2 HG04204.hp1 NA18949.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0014 a0001c0001 a0002c0002 a0006c0014	a0001c0001t0002 a0002c0002t0001 a0006c0014t0002 a0001c0001t0002 a0002c0002t0001 a0006c0014t0002	a0001c0001t0002g0159 a0001c0001t0002g0175 a0002c0002t0001g0043 others(1): Show a0001c0001t0002g0159 a0001c0001t0002g0175 a0002c0002t0001g0043 a0006c0014t0002g0136	4	388	0.0103	29	c.35 others(40): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC10_chr19_50471507_50495871	50472243	T T	TATGTATA others(22): Show TATGTATATATACATGTATGTGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	352	0.0028	29	c.-43 others(40): Show c.-4302_-4301insATGTATATATACATGTATGTGTATATATG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4263		chr19	TogoVar
EMILIN2_chr18_2842006_2921003	2857261	G G	GACTTTGC others(22): Show GACTTTGCAGCTTTTCCCCAACTTTTCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0046 a0003c0046	a0003c0046t0002 a0003c0046t0002	a0003c0046t0002g0028 a0003c0046t0002g0028	1	452	0.0022	29	c.257 others(46): Show c.257+9331_257+9359dupACTTTGCAGCTTTTCCCCAACTTTTCCC A	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML4_chr2_42164353_42337548	42325596	T T	TTATATAT others(22): Show TTATATATATATATATATATGCTATGATTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0345 a0002c0002t0002g0345	1	358	0.0028	29	c.224 others(44): Show c.2242+47_2242+48insATATATATATATATGCTATGATTATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0118 a0003c0003t0002g0118	1	358	0.0028	29	c.224 others(44): Show c.2242+48_2242+49insATATATATATATATATATATATATATATA	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22			chr2	TogoVar
EML5_chr14_88607431_88797953	88608210	T T	TACCCTGC others(22): Show TACCCTGCAAGTGAATACCATCCCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	332	0.0030	29	c.75 others(40): Show c.7579_*7607dupGAGATGGGGATGGTATTCACTTGCAGGGT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		4220		chr14	TogoVar
EML5_chr14_88607431_88797953	88796837	A A	ATATATAT others(22): Show ATATATATTATATGTATATATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03017.hp1 HG04204.hp2 others(1): Show HG02683.hp2 HG03017.hp1 HG04204.hp2 NA18986.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0315 a0001c0003t0004g0316 a0001c0003t0004g0317 others(1): Show a0001c0003t0004g0315 a0001c0003t0004g0316 a0001c0003t0004g0317 a0001c0003t0004g0323	4	332	0.0121	29	c.-43 others(40): Show c.-4335_-4334insATATATAATATATATACATATAATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3885		chr14	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03710.hp1 NA18522.hp2 others(3): Show HG02258.hp2 HG03710.hp1 NA18522.hp2 NA18971.hp2 NA18983.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0048 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0048 a0001c0002t0004 a0001c0005t0001 a0001c0010t0001	a0001c0001t0001g0063 a0001c0001t0004g0242 a0001c0001t0048g0069 others(3): Show a0001c0001t0001g0063 a0001c0001t0004g0242 a0001c0001t0048g0069 a0001c0002t0004g0028 a0001c0005t0001g0093 a0001c0010t0001g0237	6	264	0.0227	29	c.243 others(48): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 homoSapiens_chm13v2.hp1 HG02683.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0003	a0001c0001t0001g0211 a0001c0005t0003g0121 a0001c0001t0001g0211 a0001c0005t0003g0121	2	264	0.0076	29	c.243 others(48): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(22): Show GTTGTTTTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0124 a0001c0014t0003g0124	1	264	0.0038	29	c.496 others(46): Show c.4968+852_4968+853insGTTTTTTTTTGTTTTTTTTTTTTTTTTT T	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(22): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02027.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG02027.hp1 HG02615.hp2 HG04204.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0002t0010	a0001c0001t0001g0063 a0001c0001t0001g0207 a0001c0001t0004g0029 others(3): Show a0001c0001t0001g0063 a0001c0001t0001g0207 a0001c0001t0004g0029 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0010g0054	6	264	0.0227	29	c.496 others(46): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54975480	A A	AGGGGGGG others(22): Show AGGGGGGGGGGGGGGGGGGGGGGGGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0257 a0001c0003t0002g0257	1	264	0.0038	29	c.53 others(40): Show c.5385_*5386insGGGGGGGGGGGGGGGGGGGGGGGGCGGGG	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding		3456		chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19088.hp1 HG01257.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0132 a0001c0001t0019g0040 a0001c0001t0001g0132 a0001c0001t0019g0040	2	402	0.0050	29	c.-61 others(46): Show c.-61+5283_-61+5311dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
ENDOV_chr17_80410167_80443086	80441170	A A	AGGCTGCG others(22): Show AGGCTGCGCTGGGCCCGCCTCACTGTAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03139.hp1 NA21309.hp2 HG02622.hp1 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0030 a0001c0001t0015g0067 a0001c0001t0015g0030 a0001c0001t0015g0067	3	420	0.0071	29	c.50 others(40): Show c.5027_*5028insGGCTGCGCTGGGCCCGCCTCACTGTAGGG	ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding		3085		chr17	TogoVar
ENG_chr9_127810016_127859658	127843755	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0339 a0001c0001t0012g0339	1	344	0.0029	29	c.68- others(42): Show c.68-511_68-510insATATATATATATATATATATATATATATA	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	1/14			chr9	TogoVar
ENKUR_chr10_24976985_25021158	24997807	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	384	0.0026	29	c.223 others(46): Show c.223+1593_223+1594insTATATATATATATATATATATATATATA T	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	2/5			chr10	TogoVar
ENOSF1_chr18_665318_717630	666891	A A	AGATGGTG others(22): Show AGATGGTGATGGTGATGGAGATGGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	418	0.0024	29	c.74 others(40): Show c.7413_*7414insCCATCACCATCTCCATCACCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3426		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43541173	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19240.hp2 HG02257.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0123 a0001c0001t0025g0125 a0001c0001t0003g0123 a0001c0001t0025g0125	2	188	0.0106	29	c.-21 others(50): Show c.-218-57022_-218-57021insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENPP2_chr8_119552086_119643839	119573407	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0323 a0002c0007t0001g0323	1	340	0.0029	29	c.178 others(48): Show c.1781-2567_1781-2566insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	19/24			chr8	TogoVar
ENSA_chr1_150617125_150634612	150617280	C C	CACACAAC others(22): Show CACACAACTCCCAACCCCCCACTCACAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	29	c.55 others(40): Show c.5563_*5564insACTTGTGAGTGGGGGGTTGGGAGTTGTGT	ENSA	ENSG00000143420.19	transcript	ENST00000369014.10	protein_coding		4844		chr1	TogoVar
ENTREP2_chr15_29115252_29575979	29478020	T T	TATATATA others(22): Show TATATATATATATTTTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp1 HG02451.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0005 a0001c0008 a0002c0005	a0001c0008t0007 a0002c0005t0005 a0001c0008t0007 a0002c0005t0005	a0001c0008t0007g0064 a0002c0005t0005g0095 a0001c0008t0007g0064 a0002c0005t0005g0095	2	125	0.0160	29	c.219 others(48): Show c.219+92484_219+92485insTATATATATATATAAAAATATATATA TAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(22): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18973.hp2 NA19082.hp1 HG01346.hp1 NA18973.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0003g0355 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0003g0355	3	356	0.0084	29	c.705 others(46): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAAAAAAAGAA A	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	356	0.0028	29	c.705 others(46): Show c.705+1036_705+1064dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	356	0.0028	29	c.-14 others(48): Show c.-14-16439_-14-16438insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	312	0.0032	29	c.-8+ others(46): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC C	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	312	0.0032	29	c.-8+ others(46): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACCC C	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	312	0.0032	29	c.-8+ others(46): Show c.-8+20700_-8+20701insACACACACACACACACACACACACCCCC C	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(22): Show CACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19091.hp1 NA19062.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0155 a0001c0003t0002g0152 a0001c0003t0002g0155	2	312	0.0064	29	c.-8+ others(46): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC A	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPC2_chr2_148639751_148792569	148774622	T T	TTATATTA others(22): Show TTATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18959.hp1 NA18964.hp2 others(2): Show NA18952.hp2 NA18959.hp1 NA18964.hp2 NA18973.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0057 a0001c0001t0002g0101 a0001c0001t0002g0115 others(2): Show a0001c0001t0002g0057 a0001c0001t0002g0101 a0001c0001t0002g0115 a0001c0001t0002g0127 a0001c0001t0003g0107	5	308	0.0162	29	c.172 others(48): Show c.1720+3236_1720+3237insATATTATATATATATATATATATATA TAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02135.hp1 HG03831.hp2 others(1): Show HG01981.hp1 HG02135.hp1 HG03831.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0160 a0001c0001t0002g0183 a0001c0002t0001g0125 others(1): Show a0001c0001t0001g0160 a0001c0001t0002g0183 a0001c0002t0001g0125 a0001c0002t0001g0174	4	448	0.0089	29	c.270 others(48): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA5_chr4_65314567_65675489	65576112	A A	AAAAGAAA others(22): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	234	0.0043	29	c.910 others(48): Show c.910+25528_910+25529insCTTTTCTTTTCTTTTCTTTTCTTTTC TTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576113	G G	GAAAAAAA others(22): Show GAAAAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00609.hp1 others(10): Show HG00099.hp2 HG00280.hp2 HG00609.hp1 HG02135.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp2 NA19011.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19083.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023 a0001c0002t0002 a0001c0002t0048 a0001c0002t0051	a0001c0001t0004g0017 a0001c0001t0005g0229 a0001c0001t0007g0170 others(10): Show a0001c0001t0004g0017 a0001c0001t0005g0229 a0001c0001t0007g0170 a0001c0001t0011g0184 a0001c0001t0011g0198 a0001c0001t0011g0200 a0001c0001t0015g0207 a0001c0001t0019g0104 a0001c0001t0023g0195 a0001c0002t0002g0193 a0001c0002t0002g0202 a0001c0002t0048g0226 a0001c0002t0051g0230	13	234	0.0556	29	c.910 others(48): Show c.910+25527_910+25528insTCTTTTCTTTTCTTTTCTTTTCTTTT TTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576113	G G	GAAAAGAA others(22): Show GAAAAGAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0175 a0001c0001t0007g0175	1	234	0.0043	29	c.910 others(48): Show c.910+25527_910+25528insTCTTTTCTTTTCTTTTCTTTTCTTCT TTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576115	A A	AAAAAAGA others(22): Show AAAAAAGAAAAGAAAAGAAAAGAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0224 a0001c0001t0007g0224	1	234	0.0043	29	c.910 others(48): Show c.910+25525_910+25526insCTTCTTTTCTTTTCTTTTCTTTTCTT TTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHB1_chr3_134790260_135265467	134984559	T T	TAGAGAGG others(22): Show TAGAGAGGGAAGGGCCCTCACCTGGGCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG02809.hp2 others(8): Show HG01243.hp2 HG02572.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0009 a0001c0004t0014 a0001c0008t0008	a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0002g0079 others(8): Show a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0002g0079 a0001c0003t0003g0006 a0001c0003t0004g0119 a0001c0003t0007g0044 a0001c0004t0001g0022 a0001c0004t0002g0093 a0001c0004t0009g0023 a0001c0004t0014g0018 a0001c0008t0008g0024	11	134	0.0821	29	c.805 others(48): Show c.805+32585_805+32613dupCCTGGGCCCCAGAGAGGGAAGGGCCC TCA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX1_chr1_225805124_225850563	225810250	T T	TGGGCGGC others(22): Show TGGGCGGCGGGCCGGGGCGCCGAGGGGTCG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0282 a0002c0006t0001g0282	1	422	0.0024	29	c.-6+ others(41): Show c.-6+86_-6+114dupGGCGGGCCGGGGCGCCGAGGGGTCGGGGC	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	282	0.0036	29	c.114 others(48): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOR_chr19_11372207_11389314	11376816	T T	TCACTACG others(22): Show TCACTACGCACTAATGTCACTCCAGCTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	29	c.11 others(40): Show c.1167_*1168insCATAGCTGGAGTGACATTAGTGCGTAGTG	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		390		chr19	TogoVar
EPPK1_chr8_143852324_143883467	143878393	T T	TGCCCGCA others(22): Show TGCCCGCACCCGCCCGCACCCGCCGCACCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0059 a0059	a0059c0152 a0059c0152	a0059c0152t0001 a0059c0152t0001	a0059c0152t0001g0274 a0059c0152t0001g0274	1	424	0.0024	29	c.-46 others(42): Show c.-46+44_-46+45insGGGTGCGGCGGGTGCGGGCGGGTGCGGGC	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143878404	G G	GCCGCACC others(22): Show GCCGCACCTGCCCGCACCCGCCGCACCTGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02027.hp1 HG02602.hp1 others(10): Show HG01934.hp1 HG02027.hp1 HG02602.hp1 HG03831.hp2 NA18970.hp2 NA18978.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA19011.hp2 NA19085.hp2 NA19089.hp1 NA19089.hp2	a0039 a0051 a0052 others(10): Show a0039 a0051 a0052 a0105 a0158 a0251 a0260 a0261 a0262 a0263 a0265 a0292 a0304	a0039c0023 a0051c0345 a0052c0056 others(10): Show a0039c0023 a0051c0345 a0052c0056 a0105c0338 a0158c0289 a0251c0084 a0260c0103 a0261c0105 a0262c0104 a0263c0100 a0265c0101 a0292c0125 a0304c0064	a0039c0023t0002 a0051c0345t0002 a0052c0056t0018 others(10): Show a0039c0023t0002 a0051c0345t0002 a0052c0056t0018 a0105c0338t0007 a0158c0289t0002 a0251c0084t0005 a0260c0103t0002 a0261c0105t0002 a0262c0104t0002 a0263c0100t0002 a0265c0101t0025 a0292c0125t0002 a0304c0064t0006	a0039c0023t0002g0278 a0051c0345t0002g0280 a0052c0056t0018g0283 others(10): Show a0039c0023t0002g0278 a0051c0345t0002g0280 a0052c0056t0018g0283 a0105c0338t0007g0287 a0158c0289t0002g0281 a0251c0084t0005g0277 a0260c0103t0002g0282 a0261c0105t0002g0286 a0262c0104t0002g0285 a0263c0100t0002g0284 a0265c0101t0025g0288 a0292c0125t0002g0279 a0304c0064t0006g0276	13	424	0.0307	29	c.-46 others(42): Show c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	56	0.0179	29	c.83- others(46): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02717.hp1 HG03239.hp2 others(1): Show HG01192.hp1 HG02717.hp1 HG03239.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0002c0003t0001	a0001c0001t0007g0018 a0001c0001t0008g0013 a0001c0001t0020g0028 others(1): Show a0001c0001t0007g0018 a0001c0001t0008g0013 a0001c0001t0020g0028 a0002c0003t0001g0014	4	56	0.0714	29	c.82+ others(48): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1196806	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20805.hp2 HG01361.hp2 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0033 a0006c0009t0025 a0001c0001t0033 a0006c0009t0025	a0001c0001t0033g0111 a0006c0009t0025g0110 a0001c0001t0033g0111 a0006c0009t0025g0110	2	162	0.0124	29	c.235 others(48): Show c.2351+6754_2351+6755insCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18			chr12	TogoVar
ERC2_chr3_55503311_56473467	55553011	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp2 HG02630.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0042 a0001c0002t0001g0017 a0001c0002t0001g0042	2	74	0.0270	29	c.40 others(48): Show c.40-41736_*40-41735insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 6085 hits)