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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EMILIN1_chr2_27073615_27091403 | 27088099 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 316 | 0.0032 | -11 | c.*20 others(22): Show |
EMILIN1 | ENSG00000138080.14 | transcript | ENST00000380320.9 | protein_coding | 1697 | chr2 | TogoVar | ||||||
EMILIN1_chr2_27073615_27091403 | 27088997 | AAGCACCA others(4): Show |
A | downstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 316 | 0.0032 | -11 | c.*29 others(22): Show |
EMILIN1 | ENSG00000138080.14 | transcript | ENST00000380320.9 | protein_coding | 2595 | chr2 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99806316 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA18966.hp1 NA19086.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0263a0003c0002t0001g0264 | 2 | 288 | 0.0069 | -11 | c.67+ others(28): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42243765 | TGTTTACT others(4): Show |
T | intron_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 358 | 0.0028 | -11 | c.26- others(26): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42278573 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 NA18946.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0004 | a0001c0001t0003g0181a0001c0001t0003g0182a0003c0003t0004g0212others(5): Show | 8 | 358 | 0.0224 | -11 | c.668 others(28): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42289913 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0296 | 1 | 358 | 0.0028 | -11 | c.121 others(30): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML5_chr14_88607431_88797953 | 88796237 | TTATATAT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02040.hp1 NA18980.hp2 NA19043.hp2 |
a0002a0004 | a0002c0002a0004c0007 | a0002c0002t0003a0004c0007t0016 | a0002c0002t0003g0028a0004c0007t0016g0007a0004c0007t0016g0008 | 3 | 332 | 0.0090 | -11 | c.-37 others(22): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3285 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796513 | TTATATCT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0263 | 1 | 332 | 0.0030 | -11 | c.-40 others(22): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3561 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796956 | TTATATAT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01167.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0013a0002c0002t0001 | a0001c0001t0002g0096a0001c0003t0013g0299a0002c0002t0001g0239others(4): Show | 7 | 332 | 0.0211 | -11 | c.-44 others(22): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 4004 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54789513 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(62): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0194others(62): Show | 65 | 264 | 0.2462 | -11 | c.198 others(30): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54818057 | GTTACTCT others(4): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0142 | 1 | 264 | 0.0038 | -11 | c.456 others(28): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 4/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54905367 | CACACACA others(4): Show |
C | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0259 | 1 | 264 | 0.0038 | -11 | c.340 others(30): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 24/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54907930 | AGATAGAT others(4): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0252 | 1 | 264 | 0.0038 | -11 | c.341 others(30): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 24/41 | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54937553 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 264 | 0.0038 | -11 | c.400 others(30): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54944941 | AGAGCAGT others(4): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0120 | 1 | 264 | 0.0038 | -11 | c.400 others(30): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EMP1_chr12_13191726_13224941 | 13192668 | AAAAAAAG others(4): Show |
A | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0144 | 1 | 444 | 0.0023 | -11 | c.-42 others(22): Show |
EMP1 | ENSG00000134531.10 | transcript | ENST00000256951.10 | protein_coding | 4057 | chr12 | TogoVar | ||||||
EMP1_chr12_13191726_13224941 | 13193156 | AAAGAAAG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02723.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(5): Show | a0001c0001t0002g0060a0001c0001t0002g0195a0001c0001t0002g0197others(8): Show | 14 | 444 | 0.0315 | -11 | c.-37 others(22): Show |
EMP1 | ENSG00000134531.10 | transcript | ENST00000256951.10 | protein_coding | 3569 | chr12 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10525317 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0336 | 1 | 402 | 0.0025 | -11 | c.*75 others(22): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 3104 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10532758 | CTTTTTTT others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0133 | a0001c0002t0133g0137 | 1 | 402 | 0.0025 | -11 | c.*13 others(20): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 5/5 | 136 | chr16 | TogoVar | |||||
EMP2_chr16_10523422_10585598 | 10575237 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG03654.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0001g0025a0001c0001t0006g0216a0001c0001t0006g0221others(3): Show | 6 | 402 | 0.0149 | -11 | c.-61 others(28): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMP3_chr19_48320552_48335553 | 48334470 | CTTTCTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG03704.hp2 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006 | 2 | 376 | 0.0053 | -11 | c.*40 others(22): Show |
EMP3 | ENSG00000142227.11 | transcript | ENST00000270221.11 | protein_coding | 3918 | chr19 | TogoVar | ||||||
EMSY_chr11_76440018_76558031 | 76494654 | CCTTCCTT others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02027.hp1 HG02083.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0010 | a0001c0002t0001g0032a0001c0002t0001g0036a0001c0002t0001g0049others(5): Show | 8 | 360 | 0.0222 | -11 | c.115 others(30): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EN1_chr2_118837171_118852648 | 118847726 | GTTTTTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0014 | 2 | 442 | 0.0045 | -11 | c.-57 others(20): Show |
EN1 | ENSG00000163064.7 | transcript | ENST00000295206.7 | protein_coding | 79 | chr2 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225524663 | TCATTGTT others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(130): Show | a0001c0001t0001g0018a0001c0001t0001g0065a0001c0001t0001g0082others(304): Show | 307 | 308 | 0.9968 | -11 | c.435 others(28): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225558627 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0076a0001c0001t0077others(1): Show | a0001c0001t0058g0086a0001c0001t0076g0085a0001c0001t0077g0084others(1): Show | 4 | 308 | 0.0130 | -11 | c.172 others(28): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225650848 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 308 | 0.0033 | -11 | c.5+1 others(24): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAM_chr4_70623744_70651824 | 70624943 | CTAATTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp1 NA18522.hp1 |
a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0028 | 2 | 410 | 0.0049 | -11 | c.-40 others(22): Show |
ENAM | ENSG00000132464.13 | transcript | ENST00000396073.4 | protein_coding | 3800 | chr4 | TogoVar | ||||||
ENC1_chr5_74622409_74645728 | 74644753 | TCTTTTTT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 430 | 0.0023 | -11 | c.-44 others(22): Show |
ENC1 | ENSG00000171617.16 | transcript | ENST00000302351.9 | protein_coding | 4026 | chr5 | TogoVar | ||||||
ENDOD1_chr11_95084846_95137645 | 95096227 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 | 1 | 368 | 0.0027 | -11 | c.300 others(28): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ENG_chr9_127810016_127859658 | 127832069 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02040.hp1 HG02135.hp1 others(11): Show |
a0002 | a0002c0004a0002c0012 | a0002c0004t0001a0002c0012t0001 | a0002c0004t0001g0067a0002c0004t0001g0075a0002c0004t0001g0076others(11): Show | 14 | 344 | 0.0407 | -11 | c.220 others(28): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 2/14 | chr9 | TogoVar | ||||||
ENG_chr9_127810016_127859658 | 127843745 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0309 | 1 | 344 | 0.0029 | -11 | c.68- others(24): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
ENG_chr9_127810016_127859658 | 127843755 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG02135.hp2 HG02735.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0011a0001c0003t0002others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0101a0001c0001t0001g0210others(8): Show | 11 | 344 | 0.0320 | -11 | c.68- others(24): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
ENKUR_chr10_24976985_25021158 | 24978440 | TCTCTCTC others(4): Show |
T | downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 384 | 0.0026 | -11 | c.*59 others(22): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 3544 | chr10 | TogoVar | ||||||
ENKUR_chr10_24976985_25021158 | 25017039 | GGACCGCC others(4): Show |
G | upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 384 | 0.0026 | -11 | c.-11 others(22): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 882 | chr10 | TogoVar | ||||||
ENO2_chr12_6909580_6928697 | 6913551 | GTTTGTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0046 | 4 | 376 | 0.0106 | -11 | c.-11 others(22): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 1028 | chr12 | TogoVar | ||||||
ENO3_chr17_4946119_4962129 | 4955807 | TTGTCTCT others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(235): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(6): Show | a0001c0001t0001g0011a0002c0002t0001g0003a0002c0002t0001g0004others(50): Show | 238 | 440 | 0.5409 | -11 | c.866 others(26): Show |
ENO3 | ENSG00000108515.18 | transcript | ENST00000519602.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ENO3_chr17_4946119_4962129 | 4955828 | TCTGTCTC others(4): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG02622.hp1 others(9): Show |
a0001a0010 | a0001c0001a0010c0009 | a0001c0001t0001a0010c0009t0001 | a0001c0001t0001g0006a0001c0001t0001g0033a0010c0009t0001g0006 | 12 | 440 | 0.0273 | -11 | c.866 others(24): Show |
ENO3 | ENSG00000108515.18 | transcript | ENST00000519602.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ENO3_chr17_4946119_4962129 | 4955861 | CCTGTCTC others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(140): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0017others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0017t0001others(2): Show | a0001c0001t0001g0011a0002c0002t0001g0004a0002c0002t0001g0017others(28): Show | 143 | 440 | 0.3250 | -11 | c.866 others(24): Show |
ENO3 | ENSG00000108515.18 | transcript | ENST00000519602.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ENOSF1_chr18_665318_717630 | 666895 | GGTGATGG others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01256.hp1 HG01433.hp1 HG01433.hp2 others(6): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0004 | a0001c0003t0001a0002c0002t0005a0003c0004t0003 | a0001c0003t0001g0287a0002c0002t0005g0003a0002c0002t0005g0091others(5): Show | 9 | 418 | 0.0215 | -11 | c.*73 others(22): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3422 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667171 | GGTGATGG others(4): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02083.hp1 HG02165.hp2 others(4): Show |
a0003a0007 | a0003c0004a0007c0019 | a0003c0004t0003a0007c0019t0003 | a0003c0004t0003g0013a0003c0004t0003g0369a0003c0004t0003g0371others(3): Show | 7 | 418 | 0.0168 | -11 | c.*71 others(22): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3146 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667269 | TGATGGTG others(4): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00741.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0084a0001c0001t0001g0251others(29): Show | 32 | 418 | 0.0766 | -11 | c.*70 others(22): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3048 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667290 | GGAGATGG others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG03130.hp2 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0002a0001c0006t0004g0235a0001c0006t0004g0237 | 3 | 418 | 0.0072 | -11 | c.*70 others(22): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3027 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667362 | GGAGATGG others(4): Show |
G | downstream_gene_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0319 | 1 | 418 | 0.0024 | -11 | c.*69 others(22): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2955 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667410 | GGTGATGG others(4): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 418 | 0.0024 | -11 | c.*68 others(22): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2907 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 713470 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18939.hp2 NA18945.hp2 NA19002.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0032 | a0001c0001t0002g0069a0001c0001t0002g0125a0001c0001t0002g0168others(2): Show | 5 | 418 | 0.0120 | -11 | c.-89 others(20): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 841 | chr18 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43213544 | CTTTTTTT others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0139 | 1 | 188 | 0.0053 | -11 | c.*43 others(20): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 17/17 | 435 | chr13 | TogoVar | |||||
ENOX1_chr13_43208130_43791972 | 43247856 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0158 | 1 | 188 | 0.0053 | -11 | c.161 others(32): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43247858 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0185 | 1 | 188 | 0.0053 | -11 | c.161 others(32): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43247862 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG02083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0074a0001c0002t0001g0033 | 2 | 188 | 0.0106 | -11 | c.161 others(32): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43247870 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG01361.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0002t0001 | a0001c0001t0035g0179a0001c0002t0001g0014 | 2 | 188 | 0.0106 | -11 | c.161 others(32): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar |