regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EGFLAM_chr5_38253559_38470480 | 38450558 | CACCCTTG others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01074.hp1 others(34): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0025a0001c0001t0001g0038a0001c0001t0001g0047others(34): Show | 37 | 190 | 0.1947 | -15 | c.254 others(32): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55203560 | CACACCAC others(8): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0064 | a0001c0003t0064g0144 | 1 | 250 | 0.0040 | -15 | c.327 others(32): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109951146 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01255.hp2 HG01517.hp1 others(4): Show |
a0001a0002a0022 | a0001c0001a0002c0002a0022c0029 | a0001c0001t0014a0001c0001t0018a0002c0002t0001others(2): Show | a0001c0001t0014g0232a0001c0001t0018g0234a0002c0002t0001g0135others(4): Show | 7 | 388 | 0.0180 | -15 | c.940 others(32): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGLN1_chr1_231358756_231427287 | 231359095 | TATATATA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094 | 1 | 338 | 0.0030 | -15 | c.*73 others(26): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4660 | chr1 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231412011 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18948.hp2 NA18960.hp1 NA18962.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0144a0002c0002t0001g0019others(2): Show | 6 | 338 | 0.0178 | -15 | c.891 others(32): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62725249 | TTGTGCCT others(8): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 198 | 0.0051 | -15 | c.104 others(34): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62773850 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp1 NA18906.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0122a0001c0003t0001g0186a0001c0003t0001g0187others(3): Show | 6 | 198 | 0.0303 | -15 | c.312 others(32): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62820733 | GTATAATA others(8): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 198 | 0.0051 | -15 | c.313 others(32): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62895278 | TATCATCA others(8): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023 | 2 | 198 | 0.0101 | -15 | c.118 others(36): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 63019731 | AAGGGAAG others(8): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 198 | 0.0051 | -15 | c.310 others(36): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 63043920 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 198 | 0.0051 | -15 | c.327 others(34): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47724981 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01243.hp1 others(8): Show |
a0001 | a0001c0008a0001c0010a0001c0028 | a0001c0008t0005a0001c0010t0005a0001c0010t0016others(1): Show | a0001c0008t0005g0342a0001c0008t0005g0361a0001c0008t0005g0362others(8): Show | 11 | 398 | 0.0276 | -15 | c.503 others(30): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47735574 | GGTGATAG others(8): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0022a0001c0001t0013g0069 | 2 | 398 | 0.0050 | -15 | c.916 others(30): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
EHF_chr11_34616093_34668288 | 34618581 | TTATCTAT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0001t0046a0001c0001t0061others(5): Show | a0001c0001t0016g0381a0001c0001t0046g0111a0001c0001t0061g0197others(5): Show | 8 | 410 | 0.0195 | -15 | c.-26 others(26): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2511 | chr11 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137768529 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02717.hp2 others(7): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0057a0001c0003t0001g0058a0001c0003t0001g0059others(7): Show | 10 | 170 | 0.0588 | -15 | c.164 others(34): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137805169 | TTCGTCCA others(8): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 170 | 0.0059 | -15 | c.271 others(34): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EI24_chr11_125564477_125589684 | 125584229 | CAAAAAAA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0004 | 1 | 362 | 0.0028 | -15 | c.*56 others(24): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 11/11 | 565 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
EIF2AK2_chr2_37094210_37161980 | 37145742 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0299 | 1 | 326 | 0.0031 | -15 | c.240 others(32): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4/16 | chr2 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37161237 | AGAAAGAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03516.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0015 | a0001c0001t0011g0263a0001c0001t0011g0282a0001c0003t0015g0021 | 3 | 326 | 0.0092 | -15 | c.-45 others(26): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4258 | chr2 | TogoVar | ||||||
EIF2AK4_chr15_39929115_40040591 | 40009069 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG03942.hp2 | a0005 | a0005c0014 | a0005c0014t0004 | a0005c0014t0004g0295 | 1 | 368 | 0.0027 | -15 | c.357 others(32): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 25/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
EIF2B1_chr12_123615406_123638686 | 123628351 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG01975.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(6): Show | a0001c0001t0003g0199a0001c0001t0010g0198a0001c0001t0013g0196others(7): Show | 11 | 322 | 0.0342 | -15 | c.370 others(32): Show |
EIF2B1 | ENSG00000111361.13 | transcript | ENST00000424014.7 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44845524 | CTTCTCCC others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0212 | 1 | 322 | 0.0031 | -15 | c.*54 others(26): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 4997 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44883364 | ATCATTTT others(8): Show |
A | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 322 | 0.0031 | -15 | c.657 others(32): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 6/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44978621 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 322 | 0.0031 | -15 | c.149 others(30): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
EIF2S3_chrX_24049956_24083810 | 24050461 | TCTGTATC others(8): Show |
T | upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 294 | 0.0034 | -15 | c.-45 others(26): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 4494 | chrX | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2365667 | GTTTGTTT others(8): Show |
G | intron_variant | MODIFIER | HG03491.hp2 NA19011.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0268a0002c0002t0001g0312 | 2 | 384 | 0.0052 | -15 | c.115 others(32): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2367825 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269a0002c0002t0001g0272 | 2 | 384 | 0.0052 | -15 | c.140 others(32): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3H_chr8_116637130_116760823 | 116730500 | GAAAGGTT others(8): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 336 | 0.0030 | -15 | c.133 others(32): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
EIF3J_chr15_44532147_44567803 | 44546816 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 292 | 0.0034 | -15 | c.148 others(32): Show |
EIF3J | ENSG00000104131.13 | transcript | ENST00000261868.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
EIF3K_chr19_38614188_38641954 | 38629267 | GTTTGTTT others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01069.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(24): Show | 32 | 400 | 0.0800 | -15 | c.355 others(32): Show |
EIF3K | ENSG00000178982.10 | transcript | ENST00000248342.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EIF3M_chr11_32578831_32611264 | 32607080 | ATTTTTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 344 | 0.0029 | -15 | c.*46 others(26): Show |
EIF3M | ENSG00000149100.13 | transcript | ENST00000531120.6 | protein_coding | 817 | chr11 | TogoVar | ||||||
EIF4A1_chr17_7567825_7584006 | 7571836 | TTTATATA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 436 | 0.0023 | -15 | c.-10 others(25): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 988 | chr17 | TogoVar | ||||||
EIF4A1_chr17_7567825_7584006 | 7571896 | TATATATA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 436 | 0.0023 | -15 | c.-94 others(24): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 928 | chr17 | TogoVar | ||||||
EIF4E1B_chr5_176625675_176651644 | 176630658 | CCGGCCGT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 422 | 0.0024 | -15 | c.-60 others(24): Show |
EIF4E1B | ENSG00000175766.13 | transcript | ENST00000318682.11 | protein_coding | 16 | chr5 | TogoVar | ||||||
EIF4E1B_chr5_176625675_176651644 | 176648676 | AAGGCCTG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0147a0001c0001t0001g0151 | 4 | 422 | 0.0095 | -15 | c.*26 others(26): Show |
EIF4E1B | ENSG00000175766.13 | transcript | ENST00000318682.11 | protein_coding | 2033 | chr5 | TogoVar | ||||||
EIF4EBP3_chr5_140542662_140554576 | 140549035 | TGGAGGAG others(8): Show |
T | conservative_inframe_deletion | MODERATE | HG01891.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0002 | 1 | 394 | 0.0025 | -15 | c.235 others(22): Show |
p.Glu others(11): Show |
EIF4EBP3 | ENSG00000243056.2 | transcript | ENST00000310331.3 | protein_coding | 2/3 | 311/693 | 235/303 | 79/100 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
EIF4G1_chr3_184309606_184340353 | 184319425 | GGGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 384 | 0.0026 | -15 | c.425 others(30): Show |
EIF4G1 | ENSG00000114867.22 | transcript | ENST00000346169.7 | protein_coding | 6/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EIF4G3_chr1_20801479_21181897 | 20849046 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG04199.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0227a0001c0001t0005g0287 | 2 | 312 | 0.0064 | -15 | c.388 others(32): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 29/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21058719 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 312 | 0.0032 | -15 | c.-19 others(34): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21075570 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01952.hp1 NA18942.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0051a0001c0001t0004g0217a0001c0001t0004g0221others(1): Show | 4 | 312 | 0.0128 | -15 | c.-19 others(36): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21083037 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 HG04115.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0003a0004c0006t0001 | a0001c0001t0002g0064a0001c0001t0003g0251a0001c0001t0003g0274others(2): Show | 5 | 312 | 0.0160 | -15 | c.-19 others(34): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21094765 | TATAATAA others(8): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01256.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030a0001c0001t0002g0031a0001c0001t0002g0032 | 3 | 312 | 0.0096 | -15 | c.-27 others(34): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21176231 | TGCCGCCG others(8): Show |
T | 5_prime_UTR_variant | MODIFIER | NA18982.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0033a0001c0001t0013g0034 | 2 | 312 | 0.0064 | -15 | c.-34 others(24): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/37 | 173490 | chr1 | TogoVar | |||||
EIF4H_chr7_74169356_74202096 | 74186788 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00741.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0020others(18): Show | 26 | 374 | 0.0695 | -15 | c.60- others(28): Show |
EIF4H | ENSG00000106682.16 | transcript | ENST00000265753.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF5B_chr2_99332389_99406326 | 99383020 | TTATTGTG others(8): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0054 | 1 | 342 | 0.0029 | -15 | c.227 others(32): Show |
EIF5B | ENSG00000158417.12 | transcript | ENST00000289371.11 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EIPR1_chr2_3183970_3382818 | 3246988 | GGGAGAGA others(8): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01884.hp1 HG02015.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0099others(12): Show | 15 | 250 | 0.0600 | -15 | c.416 others(34): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
ELAC2_chr17_12986612_13023027 | 12986691 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0091 | 1 | 400 | 0.0025 | -15 | c.*61 others(26): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4920 | chr17 | TogoVar | ||||||
ELAC2_chr17_12986612_13023027 | 13022541 | TTTCTTTC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp2 HG04228.hp1 NA18963.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0017a0001c0001t0004g0026a0001c0001t0004g0057others(3): Show | 7 | 400 | 0.0175 | -15 | c.-46 others(26): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4515 | chr17 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109151321 | TGGGAGGA others(8): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 230 | 0.0044 | -15 | c.154 others(34): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELAPOR1_chr1_109109115_109211781 | 109174413 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG02257.hp2 others(6): Show |
a0002 | a0002c0005a0002c0010a0002c0020others(1): Show | a0002c0005t0006a0002c0005t0025a0002c0010t0008others(2): Show | a0002c0005t0006g0012a0002c0005t0006g0015a0002c0005t0006g0060others(6): Show | 9 | 230 | 0.0391 | -15 | c.952 others(30): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |