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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 NA18522.hp2 HG02055.hp2 HG02486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0055 a0001c0003t0019 a0001c0012t0067 a0001c0001t0055 a0001c0003t0019 a0001c0012t0067	a0001c0001t0055g0165 a0001c0003t0019g0136 a0001c0012t0067g0181 a0001c0001t0055g0165 a0001c0003t0019g0136 a0001c0012t0067g0181	3	250	0.0120	21	c.270 others(40): Show c.2702-2524_2702-2523insTTTTTTTTTTTTTTTTTTTTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109916430	C C	CCTGGATT others(14): Show CCTGGATTCAAATCCCATTCAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02523.hp1 NA18963.hp1 others(2): Show HG00673.hp2 HG02523.hp1 NA18963.hp1 NA19078.hp2 NA19080.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0013	a0001c0001 a0002c0002 a0008c0008 others(1): Show a0001c0001 a0002c0002 a0008c0008 a0013c0015	a0001c0001t0004 a0002c0002t0006 a0008c0008t0003 others(1): Show a0001c0001t0004 a0002c0002t0006 a0008c0008t0003 a0013c0015t0005	a0001c0001t0004g0368 a0002c0002t0006g0371 a0002c0002t0006g0372 others(2): Show a0001c0001t0004g0368 a0002c0002t0006g0371 a0002c0002t0006g0372 a0008c0008t0003g0370 a0013c0015t0005g0369	5	388	0.0129	21	c.127 others(38): Show c.127+2968_127+2969insCTGGATTCAAATCCCATTCAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EGLN1_chr1_231358756_231427287	231422356	A A	AGGGAGGG others(14): Show AGGGAGGGCCGGGAGGGCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0091 a0002c0002t0002g0091	1	338	0.0030	21	c.-46 others(30): Show c.-469_-468insCCCGGCCCTCCCGGCCCTCCC	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		70		chr1	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0084 a0001c0018t0005g0084	1	398	0.0025	21	c.915 others(38): Show c.915+5056_915+5057insAAAAAAAAAAAAATATATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHHADH_chr3_185185624_185259049	185194800	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18962.hp1 NA18983.hp1 NA18945.hp2 NA18962.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0186 a0001c0001t0001g0210 a0001c0001t0001g0161 a0001c0001t0001g0186 a0001c0001t0001g0210	3	348	0.0086	21	c.911 others(38): Show c.911-1334_911-1314dupTTTTTTTTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	6/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0208 a0004c0006t0001g0208	1	348	0.0029	21	c.463 others(38): Show c.463+1174_463+1175insATATATATATATATTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp1 HG03098.hp2 others(1): Show HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2	a0004 a0009 a0004 a0009	a0004c0006 a0009c0008 a0004c0006 a0009c0008	a0004c0006t0001 a0009c0008t0001 a0004c0006t0001 a0009c0008t0001	a0004c0006t0001g0009 a0004c0006t0001g0204 a0009c0008t0001g0205 a0004c0006t0001g0009 a0004c0006t0001g0204 a0009c0008t0001g0205	4	348	0.0115	21	c.463 others(38): Show c.463+1174_463+1175insATATATATATATATATATTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137712659	T T	TATAAGCA others(14): Show TATAAGCAGAAGTCCCTTATCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	170	0.0059	21	c.85+ others(36): Show c.85+1630_85+1650dupATAAGCAGAAGTCCCTTATCA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780332	T T	TGTGTGGT others(14): Show TGTGTGGTGATGACGCTGAGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0169 a0001c0004t0001g0169	1	170	0.0059	21	c.227 others(38): Show c.2275+642_2275+662dupGTGATGACGCTGAGACGTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780376	T T	TGTGATGA others(14): Show TGTGATGATGCTGGGATGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02630.hp1 others(10): Show HG01884.hp1 HG01891.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 others(10): Show a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0009t0001g0061 a0001c0009t0001g0142 a0001c0009t0001g0170	13	170	0.0765	21	c.227 others(38): Show c.2275+666_2275+667insTGCTGGGATGTGTGGTGATGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780566	A A	AGATGTGT others(14): Show AGATGTGTGGTGATGACGCTGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01070.hp1 others(41): Show HG00323.hp2 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02129.hp2 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG02602.hp2 HG02723.hp1 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03831.hp1 NA18906.hp2 NA18947.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA19005.hp1 NA19007.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0009	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0002c0010 a0004c0017 a0006c0013 a0009c0027	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0001c0014t0001 a0002c0010t0001 a0004c0017t0001 a0006c0013t0001 a0009c0027t0001	a0001c0001t0001g0100 a0001c0002t0001g0002 a0001c0002t0001g0003 others(41): Show a0001c0001t0001g0100 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0065 a0001c0002t0001g0092 a0001c0002t0001g0124 a0001c0002t0001g0141 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0139 a0001c0004t0001g0166 a0001c0005t0001g0072 a0001c0011t0001g0034 a0001c0014t0001g0008 a0002c0010t0001g0126 a0002c0010t0001g0127 a0002c0010t0001g0168 a0004c0017t0001g0007 a0006c0013t0001g0031 a0009c0027t0001g0125	44	170	0.2588	21	c.227 others(38): Show c.2275+891_2275+911dupGGATGTGTGGTGATGACGCTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780566	A A	AGATGTGT others(14): Show AGATGTGTGGTGATGATGCTGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0036 a0001c0011t0001g0036	1	170	0.0059	21	c.227 others(38): Show c.2275+864_2275+865insTGCTGGGATGTGTGGTGATGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780661	T T	TGTGTGGT others(14): Show TGTGTGGTGATGACGCCGAGAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	170	0.0059	21	c.227 others(39): Show c.2275+983_2275+1003dupAGACGTGTGGTGATGACGCCG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780969	C C	CGTGTGGT others(14): Show CGTGTGGTGATGACGCCGGGAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	170	0.0059	21	c.227 others(40): Show c.2275+1267_2275+1268insCGGGATGTGTGGTGATGACGC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781011	T T	TGTGTGGT others(14): Show TGTGTGGTGATGACGCCGAGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp2 HG01243.hp1 others(6): Show HG00323.hp1 HG01175.hp2 HG01243.hp1 HG02738.hp2 HG03491.hp1 HG03688.hp2 HG03927.hp1 HG06807.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0022 a0001c0001 a0001c0019 a0001c0022	a0001c0001t0001 a0001c0019t0001 a0001c0022t0001 a0001c0001t0001 a0001c0019t0001 a0001c0022t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0019t0001g0037 a0001c0022t0001g0044	9	170	0.0529	21	c.227 others(40): Show c.2276-1241_2276-1221dupAGACGTGTGGTGATGACGCCG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781053	C C	CGTGTGGT others(14): Show CGTGTGGTGATGACGCCGGGAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp2 NA19240.hp1 HG02970.hp2 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0008 a0001c0004 a0001c0006 a0001c0008	a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001	a0001c0004t0001g0157 a0001c0006t0001g0152 a0001c0008t0001g0156 a0001c0004t0001g0157 a0001c0006t0001g0152 a0001c0008t0001g0156	3	170	0.0177	21	c.227 others(40): Show c.2276-1222_2276-1202dupCGGGATGTGTGGTGATGACGC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781254	G G	GTGACGAC others(14): Show GTGACGACGCTGGGACGTGTGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18973.hp1 HG01081.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0094 a0001c0001t0001g0113	2	170	0.0118	21	c.227 others(40): Show c.2276-1017_2276-1016insATGACGACGCTGGGACGTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781359	C C	CGTGTGGT others(14): Show CGTGTGGTGATGACGCTGGGAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01884.hp1 HG01891.hp2 others(17): Show HG01257.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02273.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0001t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0003t0001g0001 others(17): Show a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0105 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0009t0001g0061 a0001c0009t0001g0142 a0001c0009t0001g0170	20	170	0.1177	21	c.227 others(38): Show c.2276-898_2276-878dupCGCTGGGATGTGTGGTGATGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EI24_chr11_125564477_125589684	125581077	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0085 a0001c0002t0020g0085	1	362	0.0028	21	c.674 others(35): Show c.674-119_674-99dupTAATAATAATAATAATAATAA	EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
EID2B_chr19_39525987_39537852	39537216	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG02486.hp2 others(13): Show HG01070.hp1 HG01109.hp1 HG02486.hp2 HG02622.hp2 HG02723.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp1 NA19043.hp1 NA19058.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0003t0006	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0009g0000 a0001c0003t0006g0000	16	418	0.0383	21	c.-44 others(32): Show c.-4415_-4414insTTTTTTTTTTTTTTTTTTTTT	EID2B	ENSG00000176401.6	transcript	ENST00000326282.5	protein_coding		4365		chr19	TogoVar
EID2_chr19_39533707_39545161	39537216	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG02486.hp1 others(15): Show HG01070.hp2 HG01109.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 NA19043.hp2 NA19058.hp2 NA19062.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0003 a0004c0005 others(1): Show a0001c0001 a0003c0003 a0004c0005 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0003c0003t0001 a0004c0005t0001 a0007c0009t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 others(4): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0007g0000 a0003c0003t0001g0000 a0004c0005t0001g0000 a0007c0009t0001g0000	18	420	0.0429	21	c.21 others(32): Show c.2152_*2153insTTTTTTTTTTTTTTTTTTTTT	EID2	ENSG00000176396.11	transcript	ENST00000390658.4	protein_coding		1490		chr19	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02818.hp1 HG03927.hp2 others(6): Show HG00639.hp1 HG02818.hp1 HG03927.hp2 NA18967.hp1 NA18969.hp2 NA18977.hp1 NA18983.hp1 NA19055.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0021 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0148	9	278	0.0324	21	c.59 others(32): Show c.5936_*5937insTTTTTTTTTTTTTTTTTTTTT	EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding		2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG03453.hp1 others(1): Show HG02055.hp1 HG02145.hp2 HG03453.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0023 a0001c0001t0006g0374 a0001c0001t0006g0375 others(1): Show a0001c0001t0002g0023 a0001c0001t0006g0374 a0001c0001t0006g0375 a0001c0001t0006g0376	4	418	0.0096	21	c.119 others(38): Show c.119-1910_119-1909insATATATATATATATATATATT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03579.hp1 HG03942.hp2 HG02738.hp2 HG03579.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0001t0006 a0001c0006t0005 a0001c0001t0005 a0001c0001t0006 a0001c0006t0005	a0001c0001t0005g0325 a0001c0001t0006g0388 a0001c0006t0005g0019 a0001c0001t0005g0325 a0001c0001t0006g0388 a0001c0006t0005g0019	3	418	0.0072	21	c.119 others(38): Show c.119-1910_119-1909insATATATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2A_chr3_150541787_150591016	150554559	T T	TCATTAGA others(14): Show TCATTAGATCAGCGGTAGGGCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	394	0.0025	21	c.98+ others(36): Show c.98+2137_98+2157dupTTAGATCAGCGGTAGGGCCCA	EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	326	0.0031	21	c.434 others(34): Show c.434-47_434-46insATATATATATATATATATTTT	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	326	0.0031	21	c.434 others(34): Show c.434-47_434-46insATATATATATATATTTTTTTT	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	322	0.0031	21	c.295 others(36): Show c.295-753_295-752insATATATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	322	0.0031	21	c.295 others(36): Show c.295-753_295-752insAAAAATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	322	0.0031	21	c.295 others(36): Show c.295-753_295-752insAAAAAAATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	322	0.0031	21	c.295 others(36): Show c.295-753_295-752insAAAAAAAAATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG02257.hp2 others(5): Show HG00280.hp1 HG00738.hp2 HG02257.hp2 HG02976.hp2 HG03490.hp1 HG03492.hp1 HG04228.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0053 a0001c0001t0002g0070 a0001c0002t0001g0134 others(5): Show a0001c0001t0002g0053 a0001c0001t0002g0070 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0169 a0001c0002t0001g0200 a0001c0002t0001g0209	8	322	0.0248	21	c.295 others(40): Show c.295-10310_295-10290dupAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03017.hp1 HG03486.hp1 HG02145.hp1 HG03017.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092	3	322	0.0093	21	c.-10 others(38): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF3E_chr8_108196216_108253717	108252648	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	348	0.0029	21	c.-39 others(32): Show c.-3967_-3947dupATTATTATTATTATTATTATT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding		3932		chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA20300.hp1 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0191 a0001c0001t0001g0045 a0001c0001t0001g0191	2	400	0.0050	21	c.40 others(30): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG01123.hp1 others(11): Show HG00140.hp2 HG00438.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG02148.hp1 NA18939.hp2 NA18952.hp1 NA18965.hp2 NA18975.hp2 NA19056.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0017 a0001c0006t0001 a0001c0001t0001 a0001c0001t0017 a0001c0006t0001	a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0001t0001g0094 others(11): Show a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0017g0079 a0001c0006t0001g0125 a0001c0006t0001g0153	14	372	0.0376	21	c.668 others(36): Show c.668-646_668-645insTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp2 HG01243.hp2 others(17): Show HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01515.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02280.hp2 HG02615.hp1 HG02683.hp2 HG03239.hp2 HG03831.hp2 HG03927.hp2 HG04204.hp2 NA18962.hp1 NA18965.hp1 NA18969.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0028	a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0057 others(17): Show a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0269 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0177 a0001c0001t0002g0195 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0010g0144 a0001c0001t0014g0014 a0001c0001t0028g0224	20	372	0.0538	21	c.979 others(38): Show c.979+2230_979+2250dupTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31441550	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	366	0.0027	21	c.255 others(38): Show c.2551+203_2551+223dupTTTTTTTTTTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	17/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0113 a0001c0004t0001g0113	1	366	0.0027	21	c.299 others(36): Show c.299-733_299-732insATATATTTTTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0211 a0001c0004t0001g0211	1	366	0.0027	21	c.299 others(36): Show c.299-733_299-732insATATATATATTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20841857	C C	CAAGGGGG others(14): Show CAAGGGGGAGGATGTAGGTAGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02818.hp1 HG02895.hp1 HG02897.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0001t0001 a0001c0001t0002 a0001c0001t0024	a0001c0001t0001g0135 a0001c0001t0002g0002 a0001c0001t0002g0039 others(1): Show a0001c0001t0001g0135 a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0024g0300	4	312	0.0128	21	c.388 others(38): Show c.3889-850_3889-830dupCCTACCTACATCCTCCCCCTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	29/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	312	0.0032	21	c.300 others(40): Show c.3007-1067_3007-1047dupTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21007515	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	312	0.0032	21	c.-66 others(38): Show c.-66-4728_-66-4708dupTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02129.hp1 NA19030.hp1 others(1): Show HG00673.hp1 HG02129.hp1 NA19030.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0012 a0001c0001t0006g0018 a0001c0001t0006g0149 others(1): Show a0001c0001t0006g0012 a0001c0001t0006g0018 a0001c0001t0006g0149 a0001c0001t0008g0305	4	312	0.0128	21	c.-27 others(42): Show c.-271-28544_-271-28524dupTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180188	T T	TTATATAT others(14): Show TTATATATTACGTAATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA20300.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0042 a0001c0001t0007g0043	2	312	0.0064	21	c.-39 others(32): Show c.-3923_-3922insTTATATATTACGTAATATATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3292		chr1	TogoVar
EIF5A2_chr3_170883418_170913637	170908613	C C	CGGCGGTG others(14): Show CGGCGGTGGCGGCCGCGGCAGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0046 a0001c0001t0037g0046	1	394	0.0025	21	c.-12 others(30): Show c.-127_-107dupACTGCCGCGGCCGCCACCGCC	EIF5A2	ENSG00000163577.8	transcript	ENST00000295822.7	protein_coding	1/5	808		chr3	TogoVar
EIF5B_chr2_99332389_99406326	99339006	A A	ACAAATAT others(14): Show ACAAATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0191 a0002c0001t0002g0191	1	342	0.0029	21	c.35+ others(36): Show c.35+1417_35+1418insCAAATATATATATATATATAC	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3319858	C C	CTGCAGGC others(14): Show CTGCAGGCAGGGCAATACTGCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp1 others(44): Show HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01978.hp2 HG01981.hp1 HG02109.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03834.hp2 HG03942.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19079.hp2 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0097 others(44): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0002g0115 a0001c0001t0002g0192 a0001c0001t0002g0208 a0001c0001t0003g0015 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0004g0008 a0001c0001t0009g0248 a0001c0003t0001g0095 a0001c0003t0001g0193	47	250	0.1880	21	c.259 others(40): Show c.259+18158_259+18159insTGCAGTATTGCCCTGCCTGCA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02818.hp1 NA18971.hp1 HG02647.hp2 HG02818.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0005 a0002c0002t0006 a0002c0008t0012 a0002c0002t0005 a0002c0002t0006 a0002c0008t0012	a0002c0002t0005g0005 a0002c0002t0006g0086 a0002c0008t0012g0093 a0002c0002t0005g0005 a0002c0002t0006g0086 a0002c0008t0012g0093	3	400	0.0075	21	c.-46 others(32): Show c.-4604_-4603insAGGAAGGAAGGAAGGAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAVL2_chr9_23685104_23831240	23702951	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	352	0.0028	21	c.488 others(38): Show c.488-1368_488-1348dupTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	4/6			chr9	TogoVar

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Search Results (Total: 10000 hits)