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
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATGTGCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0306 a0001c0002t0006g0306	1	322	0.0031	35	c.342 others(52): Show c.3420-522_3420-521insGGCACATATATATATATATATATATATA TATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117687426	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0076 a0002c0001t0001g0076	1	194	0.0052	35	c.511 others(54): Show c.511+89364_511+89365insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DST_chr6_56452996_56959830	56812109	A A	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0032 a0032	a0032c0051 a0032c0051	a0032c0051t0001 a0032c0051t0001	a0032c0051t0001g0011 a0032c0051t0001g0011	1	84	0.0119	35	c.625 others(54): Show c.625+39253_625+39287dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103			chr6	TogoVar
DTD1_chr20_18583054_18771644	18708173	A A	ATATATAT others(28): Show ATATATATATTTTATATATATATTATATATATATTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	398	0.0025	35	c.478 others(54): Show c.478-35917_478-35883dupTTTATATATATATTATATATATATTT TATATATAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD2_chr14_31441036_31462506	31449655	A A	ATAAATAG others(28): Show ATAAATAGACCTAGGGTCTCAAAGAAGTTCTAATAT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	418	0.0024	35	c.182 others(52): Show c.182-1202_182-1201insATATTAGAACTTCTTTGAGACCCTAGGT CTATTTA	DTD2	ENSG00000129480.14	transcript	ENST00000310850.9	protein_coding	2/2			chr14	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGCGT others(28): Show GGGGGCGTGCGAGGGGGCGGGGGCGCGCGAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	446	0.0022	35	c.-46 others(46): Show c.-4629_-4628insGCCCCCTCGCGCGCCCCCGCCCCCTCGCACGCCC C	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGGCG others(28): Show GGGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 NA19086.hp2 HG00733.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0245 a0002c0004t0002g0133 a0001c0001t0001g0245 a0002c0004t0002g0133	2	446	0.0045	35	c.-46 others(46): Show c.-4629_-4628insGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC C	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172095	C C	CGCGAGGG others(28): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGGCGGGGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	446	0.0022	35	c.-46 others(46): Show c.-4653_-4652insACGCCCCGCCCCCCTCGCGCGCCCCGCCCCCTCG C	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4611		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172105	C C	CGGGGCGC others(28): Show CGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp2 NA18974.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0287 a0001c0001t0002g0284 a0001c0001t0001g0287 a0001c0001t0002g0284	2	446	0.0045	35	c.-46 others(46): Show c.-4663_-4662insCGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCC C	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4621		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172184	A A	AGGGGGCG others(28): Show AGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp2 NA18974.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0287 a0001c0001t0002g0284 a0001c0001t0001g0287 a0001c0001t0002g0284	2	446	0.0045	35	c.-47 others(46): Show c.-4742_-4741insCTCGCGCGCCCCGCCCCCTCGCGCGCCCCGCCCC C	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4700		chr19	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(28): Show ATGTGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18990.hp1 HG01109.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0305 a0001c0001t0004g0056 a0001c0001t0001g0305 a0001c0001t0004g0056	2	336	0.0060	35	c.108 others(52): Show c.1080+505_1080+506insATATATATATATATATATATATATATAT ATACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01175.hp2 HG00621.hp1 HG00621.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	3	396	0.0076	35	c.75 others(44): Show c.757_*758insAAAAATATATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37417530	T T	TTTTTCTT others(28): Show TTTTTCTTTTTCTTTTTCTTTTTCTTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01081.hp1 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0120 a0001c0002t0028 a0001c0001t0120 a0001c0002t0028	a0001c0001t0120g0215 a0001c0002t0028g0328 a0001c0001t0120g0215 a0001c0002t0028g0328	2	350	0.0057	35	c.-76 others(52): Show c.-76-2765_-76-2764insCTTTTTCTTTTTCTTTTTCTTTTTCTTT TTCTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519743	T T	TTTTTGTT others(28): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00741.hp1 others(44): Show HG00438.hp2 HG00597.hp1 HG00741.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01952.hp1 HG02015.hp1 HG02074.hp2 HG02145.hp2 HG02165.hp2 HG02293.hp2 HG02486.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp1 NA18906.hp1 NA18943.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18963.hp2 NA18980.hp2 NA18989.hp2 NA19003.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19064.hp1 NA19078.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(17): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0047 a0001c0001t0052 a0001c0001t0073 a0001c0001t0119 a0001c0001t0121 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0130 a0001c0001t0135 a0001c0001t0139 a0001c0002t0074 a0001c0005t0004	a0001c0001t0003g0120 a0001c0001t0003g0152 a0001c0001t0003g0200 others(44): Show a0001c0001t0003g0120 a0001c0001t0003g0152 a0001c0001t0003g0200 a0001c0001t0003g0232 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0004g0119 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0010g0327 a0001c0001t0010g0332 a0001c0001t0010g0333 a0001c0001t0010g0334 a0001c0001t0010g0336 a0001c0001t0035g0194 a0001c0001t0035g0197 a0001c0001t0036g0201 a0001c0001t0036g0230 a0001c0001t0037g0133 a0001c0001t0037g0248 a0001c0001t0041g0299 a0001c0001t0041g0300 a0001c0001t0047g0012 a0001c0001t0052g0216 a0001c0001t0073g0335 a0001c0001t0119g0199 a0001c0001t0121g0195 a0001c0001t0123g0005 a0001c0001t0124g0224 a0001c0001t0125g0226 a0001c0001t0130g0217 a0001c0001t0135g0236 a0001c0001t0139g0242 a0001c0002t0074g0330 a0001c0005t0004g0225	47	350	0.1343	35	c.72 others(46): Show c.7216_*7217insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT T	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7217	INFO_REALIGN_3_PRIME	chr21	TogoVar
DZIP3_chr3_108584722_108699840	108633760	C C	CTCTCTCT others(28): Show CTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02630.hp2 HG02976.hp2 others(1): Show HG01192.hp2 HG02630.hp2 HG02976.hp2 HG03139.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0018 a0004c0005t0005g0110 a0004c0005t0005g0111 others(1): Show a0004c0005t0005g0018 a0004c0005t0005g0110 a0004c0005t0005g0111 a0004c0005t0005g0112	4	318	0.0126	35	c.816 others(50): Show c.816+697_816+698insGGATCTATCAGAGTACTTCTGATAGATCTC TCTCT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	366	0.0027	35	c.-29 others(46): Show c.-2977_-2976insATATATATATATATATATATATATATATATTTTT T	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EAPP_chr14_34510938_34544701	34543844	G G	GAATCGGA others(28): Show GAATCGGAGGATATACTAACTCGGCACTCACAGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	360	0.0028	35	c.-42 others(46): Show c.-4217_-4216insAAACTGTGAGTGCCGAGTTAGTATATCCTCCGAT T	EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding		4144		chr14	TogoVar
EBF2_chr8_25836725_26050413	25838165	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	220	0.0046	35	c.64 others(46): Show c.6443_*6444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3559		chr8	TogoVar
ECPAS_chr9_111355685_111489383	111468705	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG04228.hp2 HG02027.hp1 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0270 a0002c0003t0001g0295 a0002c0003t0001g0270 a0002c0003t0001g0295	2	354	0.0057	35	c.22+ others(50): Show c.22+4191_22+4192insCACACACACACACACACACACACACACACA CACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
EDC3_chr15_74625558_74701024	74668729	T T	TGAAGAAA others(28): Show TGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19082.hp1 HG00438.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0258 a0001c0001t0002g0216 a0001c0001t0002g0258	2	286	0.0070	35	c.484 others(52): Show c.484+2725_484+2726insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20129.hp2 NA20752.hp1 HG01884.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0055	3	358	0.0084	35	c.400 others(52): Show c.400-3626_400-3625insATATATATATTTTTTTTTTTTTTTTTTT TTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01934.hp1 HG02886.hp2 others(3): Show HG00558.hp1 HG01934.hp1 HG02886.hp2 HG03942.hp1 HG06807.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0054 a0001c0001t0002g0070 others(3): Show a0001c0001t0002g0037 a0001c0001t0002g0054 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0082	6	358	0.0168	35	c.400 others(52): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT TTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02896.hp1 HG02897.hp1 others(6): Show HG01123.hp1 HG02896.hp1 HG02897.hp1 NA18939.hp1 NA18973.hp2 NA19009.hp2 NA19065.hp1 NA19086.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0039 others(6): Show a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0064 a0001c0001t0002g0065	9	358	0.0251	35	c.400 others(52): Show c.400-3626_400-3625insATATATATATATATTTTTTTTTTTTTTT TTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18984.hp1 NA19075.hp2 NA18964.hp1 NA18984.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0042	3	358	0.0084	35	c.400 others(52): Show c.400-3626_400-3625insATATATATATATATATTTTTTTTTTTTT TTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(28): Show TTATATATATATATATATATATATATATATAATATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	358	0.0028	35	c.291 others(50): Show c.291+332_291+333insTATATTATATATATATATATATATATATAT ATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128150798	T T	TATATTCT others(28): Show TATATTCTATATATATTCTATATATTATATATTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	272	0.0037	35	c.-27 others(46): Show c.-2710_-2709insATATTCTATATATATTCTATATATTATATATTCT A	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2682		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	342	0.0029	35	c.-55 others(46): Show c.-5527_-5526insTATATATATATATATATATATATATATATATATA T	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(28): Show TTATATATATATATATATTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	342	0.0029	35	c.-55 others(46): Show c.-5527_-5526insTATATATATATATATATAATATATATATATATAT A	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01106.hp2 others(14): Show HG00733.hp2 HG00738.hp2 HG01106.hp2 HG01109.hp2 HG01433.hp1 HG01978.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02572.hp1 HG03490.hp2 HG04199.hp2 NA18983.hp1 NA18991.hp2 NA18999.hp1 NA19006.hp1 NA19062.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0002 a0001c0001 a0001c0004 a0003c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0026 others(6): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0026 a0001c0001t0042 a0001c0004t0011 a0003c0002t0007 a0003c0002t0017 a0003c0002t0020 a0003c0002t0026	a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 others(14): Show a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0039 a0001c0001t0005g0047 a0001c0001t0005g0050 a0001c0001t0007g0044 a0001c0001t0026g0014 a0001c0001t0042g0037 a0001c0004t0011g0019 a0003c0002t0007g0042 a0003c0002t0017g0018 a0003c0002t0020g0054 a0003c0002t0026g0052	17	346	0.0491	35	c.-20 others(46): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAAAAT others(28): Show AAAAAAATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	428	0.0023	35	c.107 others(50): Show c.107-670_107-669insATATATATATATATATATATATATATGTAT TTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB2_chr1_244964682_245092837	245082413	A A	AACAACAA others(28): Show AACAACAACGGAGGGAGGAGGAAAAGAGAGAGATCT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	290	0.0035	35	c.263 others(50): Show c.263+251_263+252insACAACAACGGAGGGAGGAGGAAAAGAGAGA GATCT	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	5/7			chr1	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(28): Show AAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0123 a0005c0006t0001g0123	1	344	0.0029	35	c.128 others(54): Show c.1289-2814_1289-2813insCTCTCTCTCTCTCTCTCTCTCTCTCT CTTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHD1_chr2_232628604_232687776	232650561	T T	TGAGATTG others(28): Show TGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19055.hp2 NA19062.hp1 NA19068.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19089.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0004 a0001c0009 others(6): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002 a0002c0003 a0003c0005 a0004c0007 a0005c0008 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0009t0005 a0002c0002t0001 a0002c0002t0005 a0002c0002t0015 a0002c0003t0001 a0003c0005t0001 a0003c0005t0006 a0003c0005t0011 a0004c0007t0001 a0005c0008t0001 a0006c0012t0001	a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0036 others(132): Show a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0194 a0001c0001t0001g0315 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0032 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0256 a0001c0001t0003g0270 a0001c0001t0003g0275 a0001c0001t0003g0357 a0001c0001t0004g0031 a0001c0001t0004g0359 a0001c0001t0005g0010 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0293 a0001c0001t0005g0297 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0030 a0001c0001t0006g0079 a0001c0001t0006g0361 a0001c0001t0007g0002 a0001c0001t0007g0295 a0001c0001t0007g0305 a0001c0001t0008g0283 a0001c0001t0008g0294 a0001c0001t0009g0273 a0001c0001t0009g0274 a0001c0001t0023g0309 a0001c0004t0001g0057 a0001c0004t0002g0095 a0001c0004t0002g0262 a0001c0004t0003g0082 a0001c0004t0003g0083 a0001c0004t0003g0094 a0001c0004t0003g0183 a0001c0004t0003g0184 a0001c0004t0003g0185 a0001c0004t0003g0186 a0001c0004t0003g0187 a0001c0004t0003g0188 a0001c0004t0003g0224 a0001c0004t0004g0207 a0001c0004t0004g0208 a0001c0004t0006g0009 a0001c0004t0006g0042 a0001c0009t0005g0299 a0002c0002t0001g0001 a0002c0002t0001g0040 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0102 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0201 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0213 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0233 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0358 a0002c0002t0005g0284 a0002c0002t0015g0313 a0002c0003t0001g0004 a0002c0003t0001g0059 a0002c0003t0001g0068 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0096 a0002c0003t0001g0099 a0002c0003t0001g0101 a0002c0003t0001g0189 a0002c0003t0001g0193 a0002c0003t0001g0196 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0003c0005t0001g0021 a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0006g0259 a0003c0005t0011g0023 a0004c0007t0001g0006 a0004c0007t0001g0217 a0004c0007t0001g0218 a0005c0008t0001g0020 a0005c0008t0001g0022 a0006c0012t0001g0100	146	382	0.3822	35	c.303 others(54): Show c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC CCAGCTGCC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/3			chr2	TogoVar
EFNA5_chr5_107371894_107675937	107399318	C C	CGGAAAGG others(28): Show CGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0082 a0001c0001t0044g0082	1	190	0.0053	35	c.419 others(54): Show c.419-11582_419-11548dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCC	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EHD2_chr19_47708422_47748134	47718725	T T	TGGACTCC others(28): Show TGGACTCCTGGGTCTGAGGGAGGAGGGACTGGGCCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG01256.hp2 others(6): Show HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG02683.hp2 HG03669.hp2 HG03927.hp2 HG03942.hp2 NA21309.hp2	a0001 a0001	a0001c0010 a0001c0013 a0001c0028 a0001c0010 a0001c0013 a0001c0028	a0001c0010t0005 a0001c0010t0016 a0001c0013t0001 others(1): Show a0001c0010t0005 a0001c0010t0016 a0001c0013t0001 a0001c0028t0001	a0001c0010t0005g0010 a0001c0010t0005g0013 a0001c0010t0005g0015 others(6): Show a0001c0010t0005g0010 a0001c0010t0005g0013 a0001c0010t0005g0015 a0001c0010t0005g0281 a0001c0010t0016g0009 a0001c0013t0001g0011 a0001c0013t0001g0012 a0001c0013t0001g0016 a0001c0028t0001g0280	9	398	0.0226	35	c.502 others(50): Show c.502+145_502+146insACTGGGCCCGGACTCCTGGGTCTGAGGGAG GAGGG	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47718899	G G	GGGGCCTG others(28): Show GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01934.hp1 HG02293.hp1 HG01109.hp1 HG01934.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0002t0002g0336 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0002t0002g0336	3	398	0.0075	35	c.502 others(50): Show c.502+320_502+321insGAGGGGCTGGGCCTGGACTCCTGGGTCTGA GGGAG	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137720012	A A	ACACAGTC others(28): Show ACACAGTCGAGGTGCCGAACCCCCTCCACACCAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	170	0.0059	35	c.642 others(52): Show c.642+2850_642+2851insCCCTCCACACCAGGGCACAGTCGAGGTG CCGAACC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6045753	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0278 a0002c0003t0001g0278	1	418	0.0024	35	c.630 others(50): Show c.630+317_630+318insATATATATATATATATATATATATATATAT ATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	418	0.0024	35	c.119 others(52): Show c.119-1910_119-1909insATATATATATATATATATTTTTTTTTTT TTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	322	0.0031	35	c.295 others(54): Show c.295-10290_295-10289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp2 NA19087.hp1 NA18968.hp1 NA18968.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028	3	322	0.0093	35	c.-10 others(52): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	350	0.0029	35	c.219 others(54): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACAC	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3A_chr10_119028670_119085817	119052399	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0126 a0001c0005t0002g0126	1	350	0.0029	35	c.219 others(54): Show c.2197-1079_2197-1078insCACACACACACACACACACACACACA CACACACAC	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	400	0.0025	35	c.40 others(44): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	366	0.0027	35	c.299 others(50): Show c.299-733_299-732insATATATATATATATATATATTTTTTTTTTT TTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA19002.hp2 HG01515.hp1 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0362 a0001c0003t0001g0048 a0001c0003t0001g0362	2	366	0.0055	35	c.299 others(50): Show c.299-733_299-732insATATATATATATATATATATATATTTTTTT TTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03654.hp2 HG01081.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0322 a0001c0003t0001g0338 a0001c0003t0001g0322 a0001c0003t0001g0338	2	366	0.0055	35	c.299 others(50): Show c.299-733_299-732insATATATATATATATATATATATATATTTTT TTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	366	0.0027	35	c.299 others(50): Show c.299-733_299-732insATATATATATATATATATATATATATATTT TTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4E_chr4_98874276_98934133	98896224	A A	AAAATAAA others(28): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	300	0.0033	35	c.126 others(52): Show c.126-4893_126-4892insAATTTTATTTTATTTTATTTTATTTTAT TTTATTT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	2/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	20989051	A A	AGGAGGGG others(28): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0305 a0001c0001t0008g0305	1	312	0.0032	35	c.178 others(52): Show c.178-6644_178-6643insCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar

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Search Results (Total: 4618 hits)