view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EHD1_chr11_64846642_64883621 | 64851102 | G | GTGGGACC others(2): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01496.hp1 others(28): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0002t0004a0001c0002t0015others(10): Show | a0001c0002t0002g0007 a0001c0002t0004g0145 a0001c0002t0015g0140 others(18): Show |
31 | 352 | 0.0881 | 9 | c.*32 others(20): Show |
EHD1 | ENSG00000110047.18 | transcript | ENST00000320631.8 | protein_coding | 539 | chr11 | TogoVar | |||||||
EHD1_chr11_64846642_64883621 | 64879814 | C | CGACTTTG others(2): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 NA18952.hp1 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0052 |
3 | 352 | 0.0085 | 9 | c.-13 others(20): Show |
EHD1 | ENSG00000110047.18 | transcript | ENST00000320631.8 | protein_coding | 1194 | chr11 | TogoVar | |||||||
EHD2_chr19_47708422_47748134 | 47725396 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02809.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0337 a0001c0002t0002g0171 a0001c0002t0002g0319 others(7): Show |
11 | 162 | 0.0679 | 9 | c.503 others(24): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47731279 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0003a0001c0002t0008a0001c0014t0008 | a0001c0002t0003g0020 a0001c0002t0003g0030 a0001c0002t0003g0031 others(3): Show |
6 | 287 | 0.0209 | 9 | c.915 others(26): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47741512 | C | CGCCCTGC others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0038 a0001c0002t0004g0059 a0001c0002t0004g0064 others(12): Show |
15 | 396 | 0.0379 | 9 | c.*86 others(16): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 6/6 | 95 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31243460 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02572.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0004a0001c0001t0032a0001c0001t0033others(2): Show | a0001c0001t0004g0274 a0001c0001t0004g0276 a0001c0001t0004g0278 others(5): Show |
8 | 62 | 0.1290 | 9 | c.228 others(24): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD3_chr2_31229152_31274451 | 31245554 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02071.hp1 HG03041.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0066 | a0001c0001t0003g0175 a0001c0001t0007g0181 a0001c0001t0066g0206 |
3 | 368 | 0.0082 | 9 | c.404 others(26): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
EHD4_chr15_41890933_41977557 | 41973311 | T | TTTGTTGT others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0002t0005a0001c0002t0013others(3): Show | a0001c0002t0004g0040 a0001c0002t0004g0042 a0001c0002t0005g0041 others(5): Show |
8 | 314 | 0.0255 | 9 | c.-81 others(18): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 755 | chr15 | TogoVar | |||||||
EHD4_chr15_41890933_41977557 | 41973314 | T | TTTGTTGT others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02280.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 others(13): Show |
17 | 304 | 0.0559 | 9 | c.-82 others(18): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 758 | chr15 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137763184 | T | TGCCCAGA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(56): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(11): Show | a0001c0001t0001g0101 a0001c0002t0001g0002 a0001c0002t0001g0003 others(56): Show |
59 | 168 | 0.3512 | 9 | c.164 others(26): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137796703 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01070.hp1 others(56): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(6): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(56): Show |
59 | 85 | 0.6941 | 9 | c.250 others(28): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EI24_chr11_125564477_125589684 | 125581077 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01175.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0017a0001c0002t0020 | a0001c0002t0012g0030 a0001c0002t0012g0100 a0001c0002t0012g0102 others(3): Show |
7 | 212 | 0.0330 | 9 | c.674 others(23): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EID2B_chr19_39525987_39537852 | 39529272 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG01070.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 others(4): Show |
52 | 172 | 0.3023 | 9 | c.*30 others(20): Show |
EID2B | ENSG00000176401.6 | transcript | ENST00000326282.5 | protein_coding | 1714 | chr19 | TogoVar | |||||||
EID2B_chr19_39525987_39537852 | 39537216 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 9 | 184 | 0.0489 | 9 | c.-44 others(20): Show |
EID2B | ENSG00000176401.6 | transcript | ENST00000326282.5 | protein_coding | 4365 | chr19 | TogoVar | |||||||
EID2_chr19_39533707_39545161 | 39537216 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02572.hp2 others(4): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0000 a0006c0007t0001g0000 |
7 | 178 | 0.0393 | 9 | c.*21 others(20): Show |
EID2 | ENSG00000176396.11 | transcript | ENST00000390658.4 | protein_coding | 1490 | chr19 | TogoVar | |||||||
EIF1_chr17_41683885_41697668 | 41697162 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 HG02145.hp2 HG03704.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001 a0001c0001t0003g0002 |
7 | 301 | 0.0233 | 9 | c.*63 others(20): Show |
EIF1 | ENSG00000173812.11 | transcript | ENST00000469257.2 | protein_coding | 4495 | chr17 | TogoVar | |||||||
EIF2AK2_chr2_37094210_37161980 | 37153337 | C | CTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(109): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0174 a0001c0001t0001g0177 others(103): Show |
112 | 273 | 0.4103 | 9 | c.-18 others(28): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
EIF2AK4_chr15_39929115_40040591 | 39944432 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG02015.hp2 others(19): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0005a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0112 a0001c0001t0001g0154 a0001c0001t0002g0156 others(19): Show |
22 | 127 | 0.1732 | 9 | c.360 others(24): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44877192 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02559.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0278 a0001c0002t0001g0233 a0001c0002t0001g0234 others(10): Show |
13 | 122 | 0.1066 | 9 | c.976 others(26): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44922836 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01261.hp1 others(17): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0272 others(17): Show |
20 | 71 | 0.2817 | 9 | c.566 others(26): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44962204 | A | ACATCATC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00621.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0132 a0001c0001t0001g0251 a0001c0001t0001g0291 others(22): Show |
25 | 29 | 0.8621 | 9 | c.294 others(28): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44984797 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01516.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0002g0006 others(13): Show |
16 | 40 | 0.4000 | 9 | c.-10 others(26): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
EIF2S1_chr14_67355328_67391516 | 67379654 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00673.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0043others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0029 others(25): Show |
38 | 234 | 0.1624 | 9 | c.474 others(24): Show |
EIF2S1 | ENSG00000134001.15 | transcript | ENST00000256383.11 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EIF2S3_chrX_24049956_24083810 | 24083048 | C | CCACCACC others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0154 |
3 | 292 | 0.0103 | 9 | c.*62 others(20): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 4239 | chrX | TogoVar | |||||||
EIF3E_chr8_108196216_108253717 | 108252648 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0004g0053 a0001c0001t0004g0094 a0001c0001t0004g0098 others(31): Show |
34 | 275 | 0.1236 | 9 | c.-39 others(20): Show |
EIF3E | ENSG00000104408.11 | transcript | ENST00000220849.10 | protein_coding | 3932 | chr8 | TogoVar | |||||||
EIF3G_chr19_10110014_10124899 | 10122524 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01123.hp1 HG01255.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0049 others(6): Show |
24 | 136 | 0.1765 | 9 | c.-26 others(20): Show |
EIF3G | ENSG00000130811.12 | transcript | ENST00000253108.9 | protein_coding | 2626 | chr19 | TogoVar | |||||||
EIF3H_chr8_116637130_116760823 | 116638952 | A | AAATAGGA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(260): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(256): Show |
263 | 334 | 0.7874 | 9 | c.*60 others(20): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 3177 | chr8 | TogoVar | |||||||
EIF3H_chr8_116637130_116760823 | 116640915 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00609.hp1 others(57): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0248 a0001c0001t0002g0249 others(56): Show |
60 | 147 | 0.4082 | 9 | c.*40 others(20): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 1214 | chr8 | TogoVar | |||||||
EIF3L_chr22_37844419_37894407 | 37859374 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0016 others(49): Show |
56 | 122 | 0.4590 | 9 | c.435 others(24): Show |
EIF3L | ENSG00000100129.18 | transcript | ENST00000652021.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EIF3M_chr11_32578831_32611264 | 32584607 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00673.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0105 others(15): Show |
32 | 113 | 0.2832 | 9 | c.42+ others(22): Show |
EIF3M | ENSG00000149100.13 | transcript | ENST00000531120.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EIF4E2_chr2_232545689_232574210 | 232559824 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01516.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0071 others(8): Show |
22 | 279 | 0.0789 | 9 | c.270 others(26): Show |
EIF4E2 | ENSG00000135930.15 | transcript | ENST00000258416.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EIF4EBP1_chr8_38025534_38065365 | 38040866 | C | CTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02818.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 a0001c0001t0003g0048 a0001c0001t0003g0223 others(1): Show |
6 | 331 | 0.0181 | 9 | c.145 others(28): Show |
EIF4EBP1 | ENSG00000187840.5 | transcript | ENST00000338825.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EIF4ENIF1_chr22_31434367_31494842 | 31443419 | T | TCTGCAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01346.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0119 a0001c0001t0001g0120 others(21): Show |
24 | 44 | 0.5455 | 9 | c.207 others(26): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 15/18 | chr22 | TogoVar | |||||||
EIF4ENIF1_chr22_31434367_31494842 | 31443419 | T | TCTGCGAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(317): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(308): Show |
320 | 340 | 0.9412 | 9 | c.207 others(26): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 15/18 | chr22 | TogoVar | |||||||
EIF4ENIF1_chr22_31434367_31494842 | 31446285 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00609.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0262 a0001c0002t0001g0004 others(54): Show |
58 | 74 | 0.7838 | 9 | c.198 others(28): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 14/18 | chr22 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20868090 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01071.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0095 a0001c0001t0001g0118 a0001c0001t0001g0125 others(27): Show |
30 | 53 | 0.5660 | 9 | c.262 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 20/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20986744 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02922.hp2 HG03225.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0166 a0001c0001t0003g0241 a0001c0001t0003g0242 others(5): Show |
8 | 26 | 0.3077 | 9 | c.178 others(26): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 7/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21007515 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02015.hp2 HG02602.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0124 others(11): Show |
14 | 90 | 0.1556 | 9 | c.-66 others(26): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 4/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21094765 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01106.hp1 HG01928.hp2 others(25): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0127 others(25): Show |
28 | 145 | 0.1931 | 9 | c.-27 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21152339 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01243.hp1 others(42): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0154 others(42): Show |
45 | 58 | 0.7759 | 9 | c.-27 others(30): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21176231 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02965.hp1 NA18965.hp1 NA18979.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0012 | a0001c0001t0012g0296 a0001c0001t0012g0297 a0001c0002t0012g0295 |
3 | 167 | 0.0180 | 9 | c.-33 others(18): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/37 | 173490 | chr1 | TogoVar | ||||||
EIF4H_chr7_74169356_74202096 | 74201908 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01175.hp1 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0072 a0001c0001t0001g0078 others(3): Show |
6 | 181 | 0.0331 | 9 | c.*66 others(20): Show |
EIF4H | ENSG00000106682.16 | transcript | ENST00000265753.13 | protein_coding | 4813 | chr7 | TogoVar | |||||||
EIF5AL1_chr10_79507533_79521440 | 79512538 | A | AGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(67): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0003a0002c0002t0004a0002c0002t0013others(5): Show | a0002c0002t0003g0000 a0002c0002t0004g0000 a0002c0002t0013g0000 others(5): Show |
70 | 400 | 0.1750 | 9 | c.-94 others(16): Show |
EIF5AL1 | ENSG00000253626.4 | transcript | ENST00000520547.4 | protein_coding | 1/1 | 85 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EIF5B_chr2_99332389_99406326 | 99353005 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00738.hp2 others(18): Show |
a0002 | a0002c0001a0002c0007 | a0002c0001t0002a0002c0001t0005a0002c0007t0005 | a0002c0001t0002g0184 a0002c0001t0002g0244 a0002c0001t0002g0245 others(17): Show |
21 | 37 | 0.5676 | 9 | c.36- others(24): Show |
EIF5B | ENSG00000158417.12 | transcript | ENST00000289371.11 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EIF5_chr14_103329237_103350025 | 103331309 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01433.hp2 HG01943.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0002 a0001c0001t0002g0034 a0001c0001t0012g0007 others(5): Show |
11 | 158 | 0.0696 | 9 | c.-33 others(20): Show |
EIF5 | ENSG00000100664.11 | transcript | ENST00000216554.8 | protein_coding | 2927 | chr14 | TogoVar | |||||||
EIF5_chr14_103329237_103350025 | 103332905 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01981.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0026others(2): Show | a0001c0001t0003g0003 a0001c0001t0003g0029 a0001c0001t0003g0044 others(5): Show |
13 | 291 | 0.0447 | 9 | c.-17 others(20): Show |
EIF5 | ENSG00000100664.11 | transcript | ENST00000216554.8 | protein_coding | 1331 | chr14 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3199060 | G | GCCCCCCC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0059 a0001c0001t0001g0105 others(12): Show |
15 | 107 | 0.1402 | 9 | c.517 others(26): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3341095 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0090 a0001c0001t0001g0219 a0001c0001t0002g0083 others(3): Show |
6 | 156 | 0.0385 | 9 | c.127 others(26): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3345948 | A | AACCACCA others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03130.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0016 a0001c0001t0002g0010 a0001c0005t0001g0104 |
3 | 247 | 0.0121 | 9 | c.127 others(26): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 12986673 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01943.hp2 HG03704.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0005 a0002c0002t0005g0035 a0002c0002t0005g0101 |
8 | 238 | 0.0336 | 9 | c.*61 others(20): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4938 | chr17 | TogoVar |