Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EFHB_chr3_19874472_19939217	19908542	A A	AAGAAAGA others(10): Show AAGAAAGAGAGAAAGATG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0061	1	338	0.0030	17	c.128 others(36): Show c.1289-2794_1289-2793insCATCTTTCTCTCTTTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03834.hp2 NA18986.hp1 others(2): Show HG00621.hp2 HG03834.hp2 NA18986.hp1 NA19060.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0042 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0042 a0001c0002t0004	a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0008g0121 others(2): Show a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0008g0121 a0001c0001t0042g0075 a0001c0002t0004g0009	5	56	0.0893	17	c.7+4 others(30): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25080283	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03209.hp1 HG03491.hp2 others(1): Show HG01099.hp2 HG03209.hp1 HG03491.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0003t0006 a0001c0001t0002 a0001c0001t0005 a0001c0003t0006	a0001c0001t0002g0120 a0001c0001t0005g0160 a0001c0003t0006g0082 others(1): Show a0001c0001t0002g0120 a0001c0001t0005g0160 a0001c0003t0006g0082 a0001c0003t0006g0256	4	70	0.0571	17	c.8-1 others(32): Show c.8-11030_8-11014dupTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL6_chrX_13564601_13638575	13623377	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02723.hp2 NA21309.hp1 HG00280.hp1 HG02723.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001	a0001c0001t0002g0076 a0001c0001t0003g0273 a0001c0007t0001g0274 a0001c0001t0002g0076 a0001c0001t0003g0273 a0001c0007t0001g0274	3	64	0.0469	17	c.118 others(34): Show c.1184-443_1184-427dupTTTTTTTTTTTTTTTTT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFLAM_chr5_38253559_38470480	38405432	A A	ACTAGATG others(10): Show ACTAGATGCATTCTTTTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0007 a0022c0027t0007	a0022c0027t0007g0159 a0022c0027t0007g0159	1	188	0.0053	17	c.713 others(32): Show c.713-692_713-676dupTAGATGCATTCTTTTGC	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EGFR_chr7_55014017_55216628	55027991	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0028 a0002c0002t0017g0028	1	150	0.0067	17	c.88+ others(32): Show c.88+8626_88+8627insTATATATATATATATAT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27			chr7	TogoVar
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG02055.hp1 others(20): Show HG01106.hp2 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02647.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG04199.hp1 NA18906.hp2 NA19030.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0033 a0002c0006 a0002c0008	a0001c0001t0001 a0001c0001t0018 a0001c0001t0066 others(14): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0066 a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0005t0001 a0001c0005t0004 a0001c0007t0005 a0001c0012t0004 a0001c0033t0063 a0002c0006t0005 a0002c0008t0062	a0001c0001t0001g0080 a0001c0001t0001g0139 a0001c0001t0018g0002 others(19): Show a0001c0001t0001g0080 a0001c0001t0001g0139 a0001c0001t0018g0002 a0001c0001t0018g0013 a0001c0001t0066g0142 a0001c0003t0001g0241 a0001c0003t0004g0173 a0001c0003t0010g0213 a0001c0003t0010g0232 a0001c0004t0001g0007 a0001c0004t0004g0162 a0001c0004t0005g0082 a0001c0004t0006g0017 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0004g0112 a0001c0005t0004g0138 a0001c0007t0005g0005 a0001c0012t0004g0161 a0001c0033t0063g0072 a0002c0006t0005g0151 a0002c0008t0062g0172	23	42	0.5476	17	c.270 others(36): Show c.2702-2524_2702-2523insTTTTTTTTTTTTTTTTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHD2_chr19_47708422_47748134	47727548	G G	GGGAGTTG others(10): Show GGGAGTTGCATGCCAACT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0286 a0001c0002t0008g0286	1	396	0.0025	17	c.915 others(34): Show c.915+1325_915+1341dupGGAGTTGCATGCCAACT	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp1 HG01243.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0009 a0001c0010t0005 a0001c0004t0009 a0001c0010t0005	a0001c0004t0009g0029 a0001c0010t0005g0017 a0001c0004t0009g0029 a0001c0010t0005g0017	2	283	0.0071	17	c.915 others(34): Show c.915+5056_915+5057insAAAAAAAAAAATATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	ATATATAT others(10): Show ATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0038 a0001c0002t0004g0038	1	282	0.0035	17	c.915 others(34): Show c.915+5055_915+5056insTATATATATATATATGT	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5			chr19	TogoVar
EHD2_chr19_47708422_47748134	47733751	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	79	0.0127	17	c.916 others(34): Show c.916-2610_916-2594dupAAAAAAAAAAAAAAAAA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31252948	C C	CTGACCTC others(10): Show CTGACCTCAGCACCCTGA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	376	0.0027	17	c.502 others(34): Show c.502+3481_502+3497dupTGACCTCAGCACCCTGA	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHHADH_chr3_185185624_185259049	185194800	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp2 HG02486.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0029 a0001c0001t0001g0031	2	7	0.2857	17	c.911 others(34): Show c.911-1330_911-1314dupTTTTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	6/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185213119	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02083.hp2 others(5): Show HG01168.hp2 HG01169.hp1 HG02083.hp2 HG02135.hp1 HG02970.hp1 NA18979.hp2 NA18999.hp2 NA19077.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0014	a0001c0001 a0003c0003 a0007c0011 others(1): Show a0001c0001 a0003c0003 a0007c0011 a0014c0019	a0001c0001t0001 a0003c0003t0001 a0007c0011t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0007c0011t0001 a0014c0019t0012	a0001c0001t0001g0050 a0001c0001t0001g0064 a0003c0003t0001g0053 others(5): Show a0001c0001t0001g0050 a0001c0001t0001g0064 a0003c0003t0001g0053 a0003c0003t0001g0058 a0003c0003t0001g0059 a0007c0011t0001g0019 a0007c0011t0001g0023 a0014c0019t0012g0270	8	76	0.1053	17	c.568 others(34): Show c.568+5000_568+5016dupTTTTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	5/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	188	0.0053	17	c.463 others(34): Show c.463+1174_463+1175insATATATATTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04204.hp1 HG03688.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0170 a0001c0001t0001g0179	2	189	0.0106	17	c.463 others(34): Show c.463+1174_463+1175insATATATATATATTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0211 a0007c0008t0001g0211	1	188	0.0053	17	c.463 others(34): Show c.463+1174_463+1175insATATATATATATATATT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137675802	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG02486.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0148 a0001c0006t0001g0152 a0001c0006t0001g0148 a0001c0006t0001g0152	2	109	0.0183	17	c.22- others(34): Show c.22-35165_22-35164insTTTTTTTTTTTTTTTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137721393	T T	TCTCACCT others(10): Show TCTCACCTCCTCCCACGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0159 a0001c0006t0001g0159	1	168	0.0060	17	c.642 others(34): Show c.642+4217_642+4218insTCCTCCCACGCCTCACC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EID2B_chr19_39525987_39537852	39529272	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 NA18612.hp1 NA18990.hp1 others(1): Show HG01515.hp2 NA18612.hp1 NA18990.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	4	124	0.0323	17	c.30 others(28): Show c.3044_*3045insAAAAAAAAAAAAAAAAA	EID2B	ENSG00000176401.6	transcript	ENST00000326282.5	protein_coding		1714		chr19	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG03041.hp1 HG03492.hp1 others(10): Show HG01346.hp1 HG03041.hp1 HG03492.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 NA18984.hp1 NA19056.hp1 NA19080.hp1 NA19086.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0002g0099 a0001c0001t0003g0004 a0001c0001t0005g0008 a0001c0001t0006g0009 a0001c0001t0006g0075	13	21	0.6190	17	c.59 others(28): Show c.5936_*5937insTTTTTTTTTTTTTTTTT	EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding		2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	129	0.0078	17	c.119 others(34): Show c.119-1910_119-1909insATATATTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0368 a0001c0001t0004g0368	1	129	0.0078	17	c.119 others(34): Show c.119-1910_119-1909insATATATATATATATATT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03669.hp1 NA20752.hp2 HG01071.hp1 HG03669.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0004 a0001c0001t0004 a0001c0006t0004	a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0006t0004g0020 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0006t0004g0020	3	131	0.0229	17	c.119 others(34): Show c.119-1910_119-1909insATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6060115	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	416	0.0024	17	c.-10 others(28): Show c.-1033_-1032insAAAAAAAAAAAAAAAAA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding		941		chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40037279	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(47): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01516.hp1 HG02004.hp1 HG02056.hp2 HG02080.hp1 HG02155.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp1 NA18946.hp1 NA18947.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19006.hp2 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19074.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0005 a0002c0002 others(8): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004 a0002c0013 a0003c0003 a0004c0006 a0004c0007 a0005c0008 a0006c0012 a0009c0016	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(9): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0002t0007 a0002c0004t0001 a0002c0013t0001 a0003c0003t0001 a0004c0006t0001 a0004c0007t0001 a0005c0008t0001 a0006c0012t0001 a0009c0016t0007	a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0115 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0206 a0001c0005t0001g0132 a0001c0005t0001g0135 a0001c0005t0001g0152 a0001c0005t0001g0225 a0002c0002t0001g0162 a0002c0002t0007g0043 a0002c0004t0001g0005 a0002c0004t0001g0051 a0002c0004t0001g0209 a0002c0004t0001g0257 a0002c0004t0001g0274 a0002c0004t0001g0300 a0002c0004t0001g0315 a0002c0004t0001g0319 a0002c0004t0001g0320 a0002c0004t0001g0321 a0002c0004t0001g0322 a0002c0004t0001g0325 a0002c0004t0001g0327 a0002c0004t0001g0329 a0002c0004t0001g0345 a0002c0004t0001g0352 a0002c0004t0001g0358 a0002c0013t0001g0278 a0002c0013t0001g0279 a0002c0013t0001g0280 a0003c0003t0001g0067 a0003c0003t0001g0073 a0004c0006t0001g0210 a0004c0007t0001g0212 a0004c0007t0001g0213 a0004c0007t0001g0215 a0004c0007t0001g0227 a0004c0007t0001g0250 a0005c0008t0001g0298 a0005c0008t0001g0356 a0006c0012t0001g0267 a0009c0016t0007g0042 a0009c0016t0007g0044	50	112	0.4464	17	c.21 others(28): Show c.2195_*2196insAAAAAAAAAAAAAAAAA	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding		1689		chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40037279	G G	GGAAAAAA others(10): Show GGAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0176 a0006c0012t0002g0176	1	63	0.0159	17	c.21 others(28): Show c.2195_*2196insGAAAAAAAAAAAAAAAA	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding		1689		chr15	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0038 a0001c0001t0011g0038	1	25	0.0400	17	c.434 others(30): Show c.434-47_434-46insATATATATATATATATT	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B3_chr1_44845522_44991595	44919883	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19005.hp2 NA18969.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0300 a0001c0001t0001g0284 a0001c0001t0001g0300	2	237	0.0084	17	c.566 others(34): Show c.566+6728_566+6744dupAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	5/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	111	0.0090	17	c.295 others(32): Show c.295-753_295-752insATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18986.hp2 HG03209.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0218 a0001c0002t0001g0154 a0001c0002t0001g0218	2	112	0.0179	17	c.295 others(32): Show c.295-753_295-752insAAATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	111	0.0090	17	c.295 others(32): Show c.295-753_295-752insAAAAATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp2 HG06807.hp2 HG02145.hp1 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0091 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0001t0002g0091 a0001c0002t0001g0138 a0001c0002t0001g0139	3	113	0.0265	17	c.295 others(32): Show c.295-753_295-752insAAAAAAATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	111	0.0090	17	c.295 others(32): Show c.295-753_295-752insAAAAAAAAATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942418	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	303	0.0033	17	c.295 others(32): Show c.295-754_295-753insTATATATATATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03239.hp1 NA19009.hp2 HG00621.hp1 HG03239.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0064 a0001c0002t0001g0168 a0001c0002t0001g0194 a0001c0001t0002g0064 a0001c0002t0001g0168 a0001c0002t0001g0194	3	102	0.0294	17	c.295 others(36): Show c.295-10306_295-10290dupAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	25	0.0400	17	c.-10 others(34): Show c.-10+1679_-10+1695dupAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2S3B_chr12_10500890_10513525	10504303	T T	TACATATA others(10): Show TACATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0000 a0011c0016t0001g0000	1	420	0.0024	17	c.-16 others(28): Show c.-1600_-1599insACATATATATATATATA	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1586		chr12	TogoVar
EIF3E_chr8_108196216_108253717	108197482	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02630.hp2 others(2): Show HG02055.hp1 HG02280.hp1 HG02630.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011	a0001c0001t0002g0037 a0001c0001t0005g0038 a0001c0001t0007g0039 others(2): Show a0001c0001t0002g0037 a0001c0001t0005g0038 a0001c0001t0007g0039 a0001c0001t0011g0028 a0001c0001t0011g0029	5	24	0.2083	17	c.43 others(28): Show c.4386_*4402dupTTTTTTTTTTTTTTTTT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding		3733		chr8	TogoVar
EIF3H_chr8_116637130_116760823	116640931	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03139.hp1 HG02145.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0304 a0001c0001t0007g0318 a0001c0001t0007g0304 a0001c0001t0007g0318	2	321	0.0062	17	c.40 others(28): Show c.4074_*4075insCTTTTTTTTTTTTTTTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding		1198		chr8	TogoVar
EIF3H_chr8_116637130_116760823	116666753	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG02451.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0251 a0001c0001t0007g0252	2	66	0.0303	17	c.290 others(34): Show c.290-7790_290-7774dupTTTTTTTTTTTTTTTTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116679589	G G	GGGGTCAG others(10): Show GGGGTCAGCCCCCCGCCC	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	213	0.0047	17	c.290 others(36): Show c.290-20610_290-20609insGGGCGGGGGGCTGACCC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116679589	G G	GGGTCAGC others(10): Show GGGTCAGCCCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03098.hp2 HG02071.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0219 a0001c0001t0002g0273 a0001c0001t0001g0219 a0001c0001t0002g0273	2	214	0.0093	17	c.290 others(36): Show c.290-20610_290-20609insGGGCGGGGGGGCTGACC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116679595	G G	GCCCCCCG others(10): Show GCCCCCCGCCCGGTCAGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02738.hp1 HG02004.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0212 a0001c0001t0002g0320 a0001c0001t0001g0212 a0001c0001t0002g0320	2	334	0.0060	17	c.290 others(36): Show c.290-20616_290-20615insGCTGACCGGGCGGGGGG	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752756	G G	GGGAAAGA others(10): Show GGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19078.hp1 NA18999.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0301 a0001c0001t0002g0295 a0001c0001t0002g0301	2	279	0.0072	17	c.132 others(34): Show c.132+2909_132+2910insTTTCTTTCTTTCTTTCC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	308	0.0032	17	c.40 others(26): Show c.405_*406insTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG02083.hp2 others(1): Show HG01074.hp1 HG01255.hp2 HG02083.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0270 others(1): Show a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0270 a0001c0002t0001g0146	4	60	0.0667	17	c.580 others(34): Show c.580-1533_580-1517dupTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53019437	A A	ATATATTT others(10): Show ATATATTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18950.hp2 NA18992.hp2 others(6): Show HG00544.hp2 NA18950.hp2 NA18992.hp2 NA18998.hp2 NA19001.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0025 a0001c0002t0003 a0001c0002t0025	a0001c0002t0003g0001 a0001c0002t0003g0310 a0001c0002t0003g0319 others(6): Show a0001c0002t0003g0001 a0001c0002t0003g0310 a0001c0002t0003g0319 a0001c0002t0003g0341 a0001c0002t0003g0342 a0001c0002t0003g0345 a0001c0002t0003g0346 a0001c0002t0003g0350 a0001c0002t0025g0347	9	200	0.0450	17	c.360 others(32): Show c.360+432_360+433insATATTTTTTTTCTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53019437	A A	ATATTTTT others(10): Show ATATTTTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18967.hp1 NA18988.hp2 NA18944.hp2 NA18967.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0349 a0001c0002t0003g0011 a0001c0002t0003g0349	3	194	0.0155	17	c.360 others(32): Show c.360+432_360+433insATTTTTTTTTTCTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02451.hp2 HG02486.hp2 others(7): Show HG02129.hp1 HG02451.hp2 HG02486.hp2 HG02895.hp2 HG02970.hp1 HG03130.hp1 HG03209.hp1 NA18945.hp1 NA19086.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0076 a0001c0001t0001g0145 a0001c0001t0001g0261 others(7): Show a0001c0001t0001g0076 a0001c0001t0001g0145 a0001c0001t0001g0261 a0001c0001t0002g0175 a0001c0001t0002g0192 a0001c0001t0002g0267 a0001c0001t0006g0037 a0001c0001t0021g0030 a0001c0001t0023g0162 a0001c0001t0024g0184	10	115	0.0870	17	c.668 others(32): Show c.668-646_668-645insTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar

Search by Variant

Search

Search Results