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
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(37): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0302 a0002c0003t0001g0302	1	354	0.0028	44	c.22+ others(59): Show c.22+4207_22+4208insACACACACACACACACACACACACACACAC ACACACACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446465	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	369	0.0027	44	c.24 others(55): Show c.2434_*2435insGAAAGAAGAGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0179 a0003c0006t0001g0179	1	294	0.0034	44	c.62- others(59): Show c.62-3339_62-3338insCTTCCTTCCTTCCTTCCTTCTTTCTTTCTT TCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	294	0.0034	44	c.62- others(59): Show c.62-3339_62-3338insCTTCCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEF1A2_chr20_63483014_63504083	63487164	C C	CACCCTCC others(37): Show CACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	374	0.0027	44	c.11 others(55): Show c.1133_*1134insCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGC GGAGGAGGGT	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		849		chr20	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	358	0.0028	44	c.400 others(61): Show c.400-3626_400-3625insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128152936	T T	TCCCCCCC others(37): Show TCCCCCCCGCCCCCGTCTTCCCGCCCCCCCGCCCCCGTCTTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	272	0.0037	44	c.-57 others(53): Show c.-572_-571insCCCCCCCGCCCCCGTCTTCCCGCCCCCCCGCCCCCG TCTTCCCG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		544		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0211 a0001c0003t0004g0211	1	342	0.0029	44	c.-55 others(55): Show c.-5540_-5539insGTATATATATATATATATATATATATATATATAT ATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04184.hp2 HG04204.hp2 others(1): Show HG03710.hp1 HG04184.hp2 HG04204.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013	a0001c0001t0002g0109 a0001c0001t0004g0097 a0001c0001t0004g0145 others(1): Show a0001c0001t0002g0109 a0001c0001t0004g0097 a0001c0001t0004g0145 a0001c0001t0013g0112	4	284	0.0141	44	c.410 others(63): Show c.410+50088_410+50089insATATATATATATATATATATATATAT ATATATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB2_chr1_244964682_245092837	244970620	G G	GCCCGCCC others(37): Show GCCCGCCCGGCCCGCCGCTCCGCCCCGCCCGGCCCGCCGCTCCGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	290	0.0035	44	c.25+ others(57): Show c.25+206_25+207insGGCCCGCCGCTCCGCCCCGCCCGGCCCGCCGC TCCGCCCCGCCC	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32940003	G G	GCCTCCCT others(37): Show GCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0087 a0004c0004t0003g0087	1	284	0.0035	44	c.279 others(63): Show c.2791-3610_2791-3609insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 NA18973.hp2 HG01346.hp1 NA18973.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0023 a0004c0004t0023 a0001c0001t0023 a0004c0004t0023	a0001c0001t0023g0122 a0004c0004t0023g0013 a0001c0001t0023g0122 a0004c0004t0023g0013	2	396	0.0051	44	c.10 others(55): Show c.1044_*1045insATATATATATATATATATATATATATATATATAT ATATATATAT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18940.hp1 NA18952.hp1 others(1): Show HG03688.hp1 NA18940.hp1 NA18952.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0051 a0001c0001t0003g0122 a0001c0001t0003g0183 others(1): Show a0001c0001t0003g0051 a0001c0001t0003g0122 a0001c0001t0003g0183 a0001c0001t0005g0004	4	221	0.0181	44	c.175 others(63): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATATATATATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(37): Show GACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02155.hp1 HG02622.hp1 others(4): Show HG01891.hp2 HG02155.hp1 HG02622.hp1 HG02809.hp1 HG03209.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0010 a0014	a0001c0005 a0001c0008 a0002c0002 others(3): Show a0001c0005 a0001c0008 a0002c0002 a0009c0012 a0010c0014 a0014c0021	a0001c0005t0001 a0001c0008t0001 a0002c0002t0001 others(3): Show a0001c0005t0001 a0001c0008t0001 a0002c0002t0001 a0009c0012t0001 a0010c0014t0001 a0014c0021t0001	a0001c0005t0001g0014 a0001c0005t0001g0059 a0001c0008t0001g0011 others(4): Show a0001c0005t0001g0014 a0001c0005t0001g0059 a0001c0008t0001g0011 a0002c0002t0001g0078 a0009c0012t0001g0065 a0010c0014t0001g0009 a0014c0021t0001g0347	7	368	0.0190	44	c.175 others(63): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02896.hp1 others(9): Show HG02630.hp2 HG02647.hp2 HG02896.hp1 HG03516.hp2 NA18983.hp2 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0018 others(8): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0042 a0001c0001t0048 a0001c0001t0059 a0001c0001t0072 a0001c0001t0083 a0001c0001t0095	a0001c0001t0006g0089 a0001c0001t0006g0176 a0001c0001t0014g0045 others(9): Show a0001c0001t0006g0089 a0001c0001t0006g0176 a0001c0001t0014g0045 a0001c0001t0018g0064 a0001c0001t0021g0160 a0001c0001t0023g0155 a0001c0001t0042g0007 a0001c0001t0048g0011 a0001c0001t0059g0109 a0001c0001t0072g0014 a0001c0001t0083g0105 a0001c0001t0095g0044	12	190	0.0632	44	c.126 others(63): Show c.126-48538_126-48537insTATACATATATATATATATATATATA TATATATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3B_chr2_25037076_25164135	25139495	G G	GCCTCAGA others(37): Show GCCTCAGATCATGCAGACTACAGCTATGAAATACCGCAAAAGTGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00621.hp1 others(25): Show HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01255.hp1 HG01346.hp1 HG02004.hp1 HG02132.hp1 HG02300.hp1 HG02523.hp1 HG03654.hp2 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18948.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18977.hp1 NA18979.hp2 NA18993.hp1 NA19004.hp1 NA19060.hp2 NA19070.hp2 NA19082.hp2 NA19086.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0011 a0005c0013 a0001c0001 a0003c0011 a0005c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0047 a0003c0011t0045 a0005c0013t0044	a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0026 others(25): Show a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0091 a0001c0001t0002g0235 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0278 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0001t0003g0231 a0001c0001t0004g0269 a0001c0001t0007g0038 a0001c0001t0008g0228 a0001c0001t0047g0068 a0003c0011t0045g0272 a0005c0013t0044g0297	28	306	0.0915	44	c.185 others(61): Show c.1854+369_1854+412dupCAGCTATGAAATACCGCAAAAGTGACCT CAGATCATGCAGACTA	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL8_chr6_32159595_32173281	32167060	C C	CTCCGCAG others(37): Show CTCCGCAGCTCTCCGCCTTCCGCCGACCCCCCGTGTCTCGTCCCG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0036 a0002c0002t0005g0036	1	433	0.0023	44	c.431 others(57): Show c.431-27_431-26insTCCGCAGCTCTCCGCCTTCCGCCGACCCCCCG TGTCTCGTCCCG	EGFL8	ENSG00000241404.7	transcript	ENST00000333845.11	protein_coding	5/8			chr6	TogoVar
EHD3_chr2_31229152_31274451	31245553	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0215 a0001c0001t0013g0215	1	378	0.0027	44	c.404 others(61): Show c.404+1104_404+1105insATATATATATATATATATATATATATAT ATATATATATATATTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF2S1_chr14_67355328_67391516	67384178	T T	TCGCCGCT others(37): Show TCGCCGCTTACTAGGCCCTGACGTCTCGTAAGAGCCCCGTAGCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0018 a0001c0001t0023g0018	1	368	0.0027	44	c.73 others(53): Show c.738_*739insCGCCGCTTACTAGGCCCTGACGTCTCGTAAGAGCCC CGTAGCCC	EIF2S1	ENSG00000134001.15	transcript	ENST00000256383.11	protein_coding	8/8	739		chr14	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(37): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG04115.hp2 others(3): Show HG02818.hp1 HG02895.hp2 HG04115.hp2 NA18960.hp2 NA18994.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0015t0025	a0001c0001t0001g0113 a0001c0001t0002g0058 a0001c0001t0002g0073 others(3): Show a0001c0001t0001g0113 a0001c0001t0002g0058 a0001c0001t0002g0073 a0001c0001t0002g0133 a0001c0001t0003g0085 a0001c0015t0025g0343	6	350	0.0171	44	c.219 others(63): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF4G3_chr1_20801479_21181897	21180122	T T	TACATATA others(37): Show TACATATATTACGTAATATATGTTATATATTACATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA19079.hp1 NA18988.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0181 a0001c0001t0001g0132 a0001c0001t0001g0181	2	312	0.0064	44	c.-38 others(55): Show c.-3857_-3856insTATATATTATATGTAATATATAACATATATTACG TAATATATGT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3226		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180145	T T	TATATATT others(37): Show TATATATTACATATAATATATAACATATATTACGTAATATATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	312	0.0032	44	c.-38 others(55): Show c.-3880_-3879insTACATATATTACGTAATATATGTTATATATTATA TGTAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3249		chr1	TogoVar
EIPR1_chr2_3183970_3382818	3247028	C C	CGAGGGAG others(37): Show CGAGGGAGGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20129.hp2 HG03209.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0234 a0001c0001t0003g0025 a0001c0001t0003g0234	2	250	0.0080	44	c.416 others(63): Show c.416+10270_416+10271insTCTCCCTCCCTCGCTCTCTCCCTCCC TCGCTCTCTCCCTCCCTC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109113413	A A	AGAGAGAG others(37): Show AGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0089 a0002c0003t0003g0089	1	230	0.0044	44	c.-77 others(53): Show c.-771_-770insGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		701		chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAAGAAGA others(37): Show GAAGAAGAGAAGAAAGAAAGAAAAGAAGAAAGAAAGAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0165 a0001c0001t0022g0165	1	276	0.0036	44	c.61 others(55): Show c.6123_*6124insTTCTTTCTTCTTTCTTTCTTCTTTTCTTTCTTTC TTCTCTTCTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(37): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0197 a0001c0001t0007g0197	1	276	0.0036	44	c.60 others(55): Show c.6094_*6095insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(37): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG04228.hp2 HG03688.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0171 a0001c0001t0002g0172	2	276	0.0073	44	c.60 others(55): Show c.6094_*6095insCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(37): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	276	0.0036	44	c.60 others(55): Show c.6094_*6095insCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11450097	G G	GCCTCCAA others(37): Show GCCTCCAAAGTGCTGGGATTACGAGCTTGAGCTACATGTCGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	318	0.0031	44	c.44 others(55): Show c.4428_*4429insGGCCCGACATGTAGCTCAAGCTCGTAATCCCAGC ACTTTGGAGG	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding		1228		chr19	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGTG others(37): Show GGGCGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	312	0.0032	44	c.-47 others(55): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(37): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	312	0.0032	44	c.-47 others(55): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGCG others(37): Show GGGGGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	312	0.0032	44	c.-47 others(55): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC CCCCGCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(37): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02015.hp2 HG02897.hp1 others(2): Show HG01884.hp1 HG02015.hp2 HG02897.hp1 NA18962.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0002c0003t0001	a0001c0001t0001g0018 a0001c0001t0002g0026 a0001c0001t0003g0004 others(2): Show a0001c0001t0001g0018 a0001c0001t0002g0026 a0001c0001t0003g0004 a0001c0001t0013g0247 a0002c0003t0001g0107	5	312	0.0160	44	c.-47 others(55): Show c.-4774_-4773insACACACACACACACACACACACACACACACACAC ACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOC_chr8_73940119_73977191	73976049	A A	AGGCGGCA others(37): Show AGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19056.hp1 NA19012.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0004 a0001c0001t0001g0014	2	404	0.0050	44	c.-40 others(55): Show c.-4067_-4024dupCGCCTGCCGCCCGCCTGCCGCCCGCCTGCCGCCC GCCTGCCGCC	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3859		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(37): Show AACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	380	0.0026	44	c.3+7 others(55): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0320 a0001c0001t0031g0320	1	338	0.0030	44	c.90- others(61): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18984.hp2 NA18954.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0115 a0001c0001t0003g0102 a0001c0001t0001g0115 a0001c0001t0003g0102	2	338	0.0059	44	c.90- others(61): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT ATATATTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
EMC10_chr19_50471507_50495871	50492036	C C	CGGGGAGA others(37): Show CGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0120 a0001c0002t0120	a0001c0002t0120g0031 a0001c0002t0120g0031	1	352	0.0028	44	c.97 others(55): Show c.9777_*9778insGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1166		chr19	TogoVar
EMC3_chr3_9957682_9991841	9963454	G G	GATAGATA others(37): Show GATAGATAGATAGATATAGATATATATATATATATAGATATAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0268 a0001c0001t0061g0268	1	322	0.0031	44	c.61 others(53): Show c.614_*615insATCTATATCTATATATATATATATATCTATATCTAT CTATCTAT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	614		chr3	TogoVar
EMCN_chr4_100390341_100523022	100448822	T T	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01258.hp2 HG01943.hp1 others(2): Show HG00642.hp1 HG01258.hp2 HG01943.hp1 HG03130.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0101 a0001c0001t0003g0186 a0001c0001t0003g0206 others(2): Show a0001c0001t0001g0101 a0001c0001t0003g0186 a0001c0001t0003g0206 a0001c0001t0003g0218 a0001c0001t0003g0258	5	262	0.0191	44	c.377 others(61): Show c.377-1252_377-1251insGAGGGAGGGAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100448822	T T	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp1 HG02572.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0210 a0001c0001t0009g0121 a0001c0001t0003g0210 a0001c0001t0009g0121	2	262	0.0076	44	c.377 others(61): Show c.377-1252_377-1251insGAGGGAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
ENDOV_chr17_80410167_80443086	80436175	A A	ATTCCTGA others(37): Show ATTCCTGATCGAACGCGGGTGGTGAGAGCACACGTCCTCGTCTCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0022 a0001c0001t0021g0022	1	420	0.0024	44	c.49 others(51): Show c.49_*50insGTGGTGAGAGCACACGTCCTCGTCTCGTTCCTGATCGA ACGCGG	ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	10/10	50	INFO_REALIGN_3_PRIME	chr17	TogoVar
ENGASE_chr17_79069824_79093599	79088057	C C	CCCGGGGA others(37): Show CCCGGGGACTGTCCTGGGTGGAGGGCAGGTGAACACAAGCTGCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01109.hp2 others(2): Show HG01074.hp1 HG01099.hp1 HG01109.hp2 HG02300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0024 a0001c0001t0014g0047 a0001c0001t0014g0024 a0001c0001t0014g0047	5	420	0.0119	44	c.17 others(55): Show c.1730_*1773dupGGGCAGGTGAACACAAGCTGCTGCCGGGGACTGT CCTGGGTGGA	ENGASE	ENSG00000167280.17	transcript	ENST00000579016.6	protein_coding	14/14	1774	INFO_REALIGN_3_PRIME	chr17	TogoVar
ENKUR_chr10_24976985_25021158	24997807	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	384	0.0026	44	c.223 others(61): Show c.223+1593_223+1594insTATATATATATATATATATATATATATA TATATATATATATATA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	2/5			chr10	TogoVar
ENOSF1_chr18_665318_717630	690702	A A	AAGCTGTT others(37): Show AAGCTGTTTCCCCTGGAGAGTCCAGCTGTTTCCCCTGGAGAGTCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	418	0.0024	44	c.536 others(57): Show c.536-72_536-71insGGACTCTCCAGGGGAAACAGCTGGACTCTCCA GGGGAAACAGCT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	7/15			chr18	TogoVar
ENPP1_chr6_131803020_131900155	131811376	A A	ATATATCT others(37): Show ATATATCTATATCTATATCTATATCTATATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02886.hp2 HG01346.hp1 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0011 a0002c0002t0001 a0002c0003t0011	a0002c0002t0001g0105 a0002c0003t0011g0120 a0002c0002t0001g0105 a0002c0003t0011g0120	2	292	0.0069	44	c.240 others(61): Show c.240+3130_240+3131insATCTATATCTATATCTATATCTATATCT ATATCTATATCTATAT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678958	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	278	0.0036	44	c.101 others(63): Show c.1011+1021_1011+1022insTTTCTTTCTTTCTTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTC	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184131259	T T	TTTCTCTT others(37): Show TTTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19240.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0017 a0001c0002t0001 a0001c0003t0017	a0001c0002t0001g0128 a0001c0003t0017g0165 a0001c0002t0001g0128 a0001c0003t0017g0165	2	320	0.0063	44	c.422 others(61): Show c.422-6988_422-6987insGAAGGAAGGAAGGAAGAAAGAAGGAAAG AAAGAAAGAAAGAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(37): Show CATATATATATATATACATATATACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01943.hp2 HG01993.hp2 others(13): Show HG01109.hp1 HG01943.hp2 HG01993.hp2 HG02056.hp2 HG02148.hp2 HG02273.hp1 HG02630.hp2 HG03209.hp2 HG03669.hp1 NA18967.hp1 NA18969.hp1 NA18984.hp2 NA18993.hp1 NA19010.hp1 NA19030.hp2 NA19077.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0003c0005t0001 a0003c0005t0002 a0002c0001t0001 a0003c0005t0001 a0003c0005t0002	a0002c0001t0001g0016 a0002c0001t0001g0030 a0002c0001t0001g0172 others(7): Show a0002c0001t0001g0016 a0002c0001t0001g0030 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0177 a0003c0005t0001g0053 a0003c0005t0002g0154	16	430	0.0372	44	c.253 others(59): Show c.253+739_253+740insATATACATATATACACATATATATATATAT ATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732132	G G	GTGTATAT others(37): Show GTGTATATATATATATATATATACACACATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0072 a0007c0013t0002g0072	1	430	0.0023	44	c.253 others(59): Show c.253+741_253+742insGTATATATATATATATATATACACACATAT ATATACATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar

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Search Results (Total: 4475 hits)