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
EGR3_chr8_22682659_22698480	22697167	C C	CCCTCCTG others(15): Show CCCTCCTGGTTTCCTCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	374	0.0027	22	c.-42 others(33): Show c.-4224_-4223insAGGGAGAGAGGAAACCAGGAGG	EGR3	ENSG00000179388.9	transcript	ENST00000317216.3	protein_coding		3688		chr8	TogoVar
EHBP1_chr2_62700713_63051487	62777394	C C	CTATTTTG others(15): Show CTATTTTGCAATATTTTATATGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18612.hp1 NA18962.hp2 HG02155.hp1 NA18612.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0006 a0001c0001t0001g0156 a0001c0001t0001g0157	3	198	0.0152	22	c.312 others(39): Show c.312+6002_312+6003insTATTTTGCAATATTTTATATGG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	5/22			chr2	TogoVar
EHBP1_chr2_62700713_63051487	62900682	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	198	0.0051	22	c.118 others(43): Show c.1185+26151_1185+26152insATATATATATATATATATATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62957641	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	198	0.0051	22	c.246 others(41): Show c.2460+1982_2460+2003dupTTTTTTTTTTTTTTTTTTTTTT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0010 a0001c0010t0005g0010	1	398	0.0025	22	c.915 others(39): Show c.915+5056_915+5057insAAAAAAAAAAAAAATATATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31245528	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0220 a0001c0003t0018g0220	1	378	0.0027	22	c.404 others(39): Show c.404+1083_404+1104dupATATATATATATATATATATAT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD3_chr2_31229152_31274451	31245553	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0048 a0001c0001t0054g0048	1	378	0.0027	22	c.404 others(39): Show c.404+1104_404+1105insATATATATATATATATATTTTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD4_chr15_41890933_41977557	41949051	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0049 a0001c0003t0050g0049	1	360	0.0028	22	c.413 others(39): Show c.413+4712_413+4713insGTATATATATATATATATATAT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EHHADH_chr3_185185624_185259049	185194800	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18980.hp2 NA18978.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0254 a0001c0001t0001g0187 a0001c0001t0001g0254	2	348	0.0058	22	c.911 others(39): Show c.911-1335_911-1314dupTTTTTTTTTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	6/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228279	T T	TATATATA others(15): Show TATATATATATATATATATGGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	348	0.0029	22	c.463 others(39): Show c.463+1152_463+1153insCTCCATATATATATATATATAT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137724951	C C	CGTGTGGC others(15): Show CGTGTGGCATTCCTGTGGCAGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp1 others(18): Show HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 NA18522.hp1 NA19240.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0004 a0001c0006 a0001c0007 others(3): Show a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0025 a0008c0026	a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 others(3): Show a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0025t0001 a0008c0026t0001	a0001c0004t0001g0083 a0001c0004t0001g0157 a0001c0004t0001g0169 others(18): Show a0001c0004t0001g0083 a0001c0004t0001g0157 a0001c0004t0001g0169 a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0152 a0001c0006t0001g0154 a0001c0006t0001g0159 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0007t0001g0054 a0001c0007t0001g0055 a0001c0007t0001g0082 a0001c0008t0001g0150 a0001c0008t0001g0156 a0001c0008t0001g0158 a0001c0025t0001g0051 a0008c0026t0001g0167	21	170	0.1235	22	c.643 others(39): Show c.643-3387_643-3386insCTGTGGCAGGTGTGTGGCATTC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137795401	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19005.hp2 NA18973.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0113 a0001c0001t0001g0115	2	170	0.0118	22	c.250 others(41): Show c.2506-3406_2506-3385dupACACACACACACACACACACAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EID2B_chr19_39525987_39537852	39537216	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(65): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG02055.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02647.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03710.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18973.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18992.hp2 NA19003.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19065.hp1 NA19085.hp1 NA19087.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0003t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(6): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0003t0001g0000	68	418	0.1627	22	c.-44 others(33): Show c.-4415_-4414insTTTTTTTTTTTTTTTTTTTTTT	EID2B	ENSG00000176401.6	transcript	ENST00000326282.5	protein_coding		4365		chr19	TogoVar
EID2_chr19_39533707_39545161	39537216	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(70): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG02055.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18992.hp2 NA19003.hp2 NA19006.hp1 NA19011.hp1 NA19030.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19062.hp2 NA19065.hp2 NA19085.hp2 NA19087.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0005 a0001c0001 a0001c0008 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0008t0003 a0004c0005t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0008g0000 a0001c0008t0003g0000 a0004c0005t0001g0000	73	420	0.1738	22	c.21 others(33): Show c.2152_*2153insTTTTTTTTTTTTTTTTTTTTTT	EID2	ENSG00000176396.11	transcript	ENST00000390658.4	protein_coding		1490		chr19	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG01069.hp1 others(2): Show HG00140.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0124 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0124 a0001c0001t0027g0093	5	278	0.0180	22	c.59 others(33): Show c.5936_*5937insTTTTTTTTTTTTTTTTTTTTTT	EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding		2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6018968	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0198 a0001c0002t0023g0198	1	418	0.0024	22	c.56 others(33): Show c.5683_*5704dupGTGTGTGTGTGTGTGTGTGTGT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding		3278		chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6045750	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0244 a0002c0003t0001g0244	1	418	0.0024	22	c.630 others(37): Show c.630+320_630+321insTTATATATATATATATATATAT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG02965.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0194 a0001c0002t0001g0195	2	418	0.0048	22	c.119 others(39): Show c.119-1910_119-1909insATATATATATTTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0377 a0001c0001t0006g0377	1	418	0.0024	22	c.119 others(39): Show c.119-1910_119-1909insATATATATATATATATATATTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0326 a0001c0001t0028g0326	1	418	0.0024	22	c.119 others(39): Show c.119-1931_119-1910dupATATATATATATATATATATAT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK2_chr2_37094210_37161980	37111876	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	326	0.0031	22	c.137 others(41): Show c.1378-2582_1378-2581insATATATATATATATATATATAT	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	14/16			chr2	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02145.hp2 NA18985.hp2 others(1): Show HG02027.hp1 HG02145.hp2 NA18985.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0003g0179 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0003g0179 a0001c0001t0005g0028	4	368	0.0109	22	c.406 others(39): Show c.4065+291_4065+312dupATATATATATATATATATATAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(15): Show ATATATATATATATATATACATG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0235 a0007c0009t0003g0235	1	368	0.0027	22	c.406 others(39): Show c.4065+312_4065+313insATATATATATATATACATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	368	0.0027	22	c.406 others(39): Show c.4065+312_4065+313insATATATATATATATATATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(15): Show ATATATATATATATATGTATATG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19030.hp1 NA19054.hp2 NA18979.hp2 NA19030.hp1 NA19054.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0059 a0003c0003t0002g0070 a0003c0003t0002g0081 a0003c0003t0002g0059 a0003c0003t0002g0070 a0003c0003t0002g0081	3	368	0.0082	22	c.406 others(39): Show c.4065+312_4065+313insATATATATATATGTATATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(15): Show ATATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	368	0.0027	22	c.406 others(39): Show c.4065+312_4065+313insATATATATATGTATGTATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2A_chr3_150541787_150591016	150590741	G G	GTATATGT others(15): Show GTATATGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	394	0.0025	22	c.68 others(33): Show c.6830_*6831insTATATGTATATATATATATATA	EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding		4726		chr3	TogoVar
EIF2B3_chr1_44845522_44991595	44922836	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	322	0.0031	22	c.566 others(39): Show c.566+3770_566+3791dupAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	5/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942377	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	322	0.0031	22	c.295 others(37): Show c.295-734_295-713dupTATATATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	322	0.0031	22	c.295 others(37): Show c.295-753_295-752insAAAAAATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA19087.hp2 HG02273.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0046 a0001c0002t0001g0196 a0001c0001t0002g0046 a0001c0002t0001g0196	2	322	0.0062	22	c.295 others(37): Show c.295-753_295-752insAAAAAAAATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03516.hp1 HG06807.hp2 others(2): Show HG00738.hp1 HG03516.hp1 HG06807.hp2 NA18943.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0071 a0001c0001t0002g0083 a0001c0002t0001g0138 others(2): Show a0001c0001t0002g0071 a0001c0001t0002g0083 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0152	5	322	0.0155	22	c.295 others(41): Show c.295-10311_295-10290dupAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593506	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGCGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18999.hp2 NA18940.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0151 a0001c0001t0001g0120 a0001c0001t0001g0151	2	426	0.0047	22	c.168 others(39): Show c.1684+112_1684+113insACACACACACGCACACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGAGAGAG others(15): Show AGAGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0187 a0001c0003t0001g0187	1	426	0.0024	22	c.168 others(39): Show c.1684+110_1684+111insACACACACACACACTCTCTCTC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGCGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02723.hp1 HG03453.hp2 others(3): Show HG00673.hp2 HG02723.hp1 HG03453.hp2 HG03831.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0152 a0001c0001t0001g0175 a0002c0002t0001g0055 others(3): Show a0001c0001t0001g0152 a0001c0001t0001g0175 a0002c0002t0001g0055 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0179	6	426	0.0141	22	c.168 others(39): Show c.1684+110_1684+111insACACACACACGCACACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2S3B_chr12_10500890_10513525	10504306	C C	CATATATA others(15): Show CATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02970.hp2 HG00738.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	422	0.0047	22	c.-15 others(33): Show c.-1597_-1596insATATATATATATATATATATAT	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1583		chr12	TogoVar
EIF2S3B_chr12_10500890_10513525	10504330	T T	TATATATA others(15): Show TATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 NA18943.hp1 NA18957.hp1 others(4): Show HG01496.hp2 NA18943.hp1 NA18957.hp1 NA18960.hp2 NA18978.hp2 NA18991.hp1 NA19010.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0000 a0005c0006t0001g0000 a0001c0001t0001g0000 a0005c0006t0001g0000	7	422	0.0166	22	c.-15 others(33): Show c.-1573_-1572insATATATATATATATATATATAC	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1559		chr12	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02572.hp1 NA18941.hp2 others(4): Show HG00733.hp2 HG02572.hp1 NA18941.hp2 NA18953.hp2 NA18963.hp2 NA19057.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 a0001c0001t0002 a0001c0002t0003 a0001c0002t0004	a0001c0001t0002g0083 a0001c0001t0002g0110 a0001c0001t0002g0128 others(4): Show a0001c0001t0002g0083 a0001c0001t0002g0110 a0001c0001t0002g0128 a0001c0001t0002g0314 a0001c0002t0003g0026 a0001c0002t0003g0031 a0001c0002t0004g0284	7	350	0.0200	22	c.219 others(41): Show c.2197-1069_2197-1048dupCACACACACACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(15): Show CATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG00741.hp2 others(20): Show HG00609.hp1 HG00642.hp1 HG00741.hp2 HG01243.hp1 HG01257.hp1 HG02055.hp2 HG02165.hp1 HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02809.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03490.hp2 HG03688.hp2 NA18947.hp2 NA18984.hp2 NA19010.hp2 NA19030.hp1 NA19084.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0036 others(20): Show a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0093 a0001c0001t0004g0098 a0001c0001t0004g0100 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0167 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0198 a0001c0001t0016g0240 a0001c0001t0016g0319	23	348	0.0661	22	c.63 others(31): Show c.634_*635insATATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204746	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	348	0.0029	22	c.106 others(41): Show c.1062-1244_1062-1243insCTCTCTCTCTATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02165.hp2 HG02451.hp2 others(4): Show HG02145.hp2 HG02165.hp2 HG02451.hp2 HG02809.hp2 HG03516.hp1 HG03654.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0079 a0001c0001t0001g0230 a0001c0001t0001g0231 others(4): Show a0001c0001t0001g0079 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0002g0299 a0001c0001t0006g0097	7	336	0.0208	22	c.707 others(39): Show c.707+2486_707+2507dupGTGTGTGTGTGTGTGTGTGTGT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116666753	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02922.hp2 HG02109.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0317 a0001c0001t0007g0322 a0001c0001t0007g0317 a0001c0001t0007g0322	2	336	0.0060	22	c.290 others(39): Show c.290-7795_290-7774dupTTTTTTTTTTTTTTTTTTTTTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG03490.hp1 HG03492.hp2 others(1): Show HG02155.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0193 a0001c0001t0002g0047 a0001c0001t0002g0222 a0001c0001t0001g0193 a0001c0001t0002g0047 a0001c0001t0002g0222	4	400	0.0100	22	c.40 others(31): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3K_chr19_38614188_38641954	38637903	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG03041.hp1 NA18522.hp2 HG01099.hp2 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241	3	400	0.0075	22	c.98 others(31): Show c.983_*984insTTTTTTTTTTTTTTTTTCTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		950		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03239.hp2 HG01099.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0278 a0001c0001t0001g0265 a0001c0001t0001g0278	2	318	0.0063	22	c.580 others(39): Show c.580-1538_580-1517dupTTTTTTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	436	0.0023	22	c.-10 others(33): Show c.-1005_-1004insTATATATATATATATATATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147009	C C	CTGTGCCG others(15): Show CTGTGCCGCTGCCGACCTCGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01978.hp1 NA19060.hp1 HG01978.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0073 a0001c0001t0024g0074 a0001c0001t0024g0073 a0001c0001t0024g0074	2	420	0.0048	22	c.-49 others(29): Show c.-49_-48insCAGCGAGGTCGGCAGCGGCACA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	49		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147047	C C	CTGTGCCG others(15): Show CTGTGCCGCTGCCGACCTCGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG02135.hp2 others(5): Show HG00280.hp2 HG01167.hp2 HG02135.hp2 NA18940.hp2 NA18952.hp2 NA18957.hp1 NA18974.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0043 a0001c0001t0012 a0001c0001t0043	a0001c0001t0012g0040 a0001c0001t0012g0089 a0001c0001t0012g0090 others(4): Show a0001c0001t0012g0040 a0001c0001t0012g0089 a0001c0001t0012g0090 a0001c0001t0012g0091 a0001c0001t0012g0092 a0001c0001t0012g0093 a0001c0001t0043g0094	8	420	0.0191	22	c.-87 others(29): Show c.-87_-86insCAGCGAGGTCGGCAGCGGCACA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	87		chr17	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03239.hp1 HG03710.hp1 others(3): Show HG02056.hp2 HG03239.hp1 HG03710.hp1 HG04228.hp1 NA18956.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0113 others(3): Show a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0257 a0001c0001t0010g0150	6	372	0.0161	22	c.668 others(37): Show c.668-646_668-645insTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53027137	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0359 a0001c0002t0011g0359	1	372	0.0027	22	c.668 others(37): Show c.668-625_668-624insTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr12	TogoVar

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