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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERI1_chr8_8997897_9038338 | 9038163 | CTGCATAG others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0010 | 1 | 426 | 0.0024 | -11 | c.*81 others(22): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 4826 | chr8 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44342851 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 340 | 0.0029 | -11 | c.212 others(28): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44342853 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 340 | 0.0029 | -11 | c.212 others(28): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44342855 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 340 | 0.0029 | -11 | c.212 others(28): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44342857 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 340 | 0.0029 | -11 | c.212 others(28): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 687960 | GCGAGAAG others(4): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0155a0001c0001t0001g0157a0001c0001t0002g0254others(1): Show | 4 | 378 | 0.0106 | -11 | c.304 others(28): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 696684 | CTCCACTC others(4): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0349 | 1 | 378 | 0.0027 | -11 | c.170 others(28): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 700246 | CCCGCACA others(4): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01891.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0022others(4): Show | 9 | 378 | 0.0238 | -11 | c.170 others(28): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 700292 | CCCGGACA others(4): Show |
C | intron_variant | MODIFIER | NA19060.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0107 | 2 | 378 | 0.0053 | -11 | c.170 others(28): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 708681 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 378 | 0.0027 | -11 | c.169 others(28): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH2_chr2_170765378_170803977 | 170765703 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0010 | 1 | 390 | 0.0026 | -11 | c.-49 others(22): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 4674 | chr2 | TogoVar | ||||||
ERICH2_chr2_170765378_170803977 | 170791707 | TAAAATAA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(109): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0008c0013others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0001g0038a0001c0002t0001g0001a0001c0002t0001g0006others(46): Show | 112 | 390 | 0.2872 | -11 | c.105 others(30): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ERICH2_chr2_170765378_170803977 | 170799583 | ACACCCAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(364): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(188): Show | 367 | 390 | 0.9410 | -11 | c.*69 others(20): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 607 | chr2 | TogoVar | ||||||
ERICH4_chr19_41438156_41449765 | 41446350 | ATGGCCTG others(4): Show |
A | downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 422 | 0.0024 | -11 | c.*21 others(22): Show |
ERICH4 | ENSG00000204978.3 | transcript | ENST00000378187.3 | protein_coding | 1586 | chr19 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98085136 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01934.hp1 HG01993.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0089a0001c0001t0001g0174a0001c0001t0001g0337others(6): Show | 9 | 442 | 0.0204 | -11 | c.59- others(26): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98091880 | CTTTCTTT others(4): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01993.hp1 HG02273.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222a0001c0001t0002g0271a0001c0001t0002g0290others(1): Show | 4 | 442 | 0.0091 | -11 | c.101 others(30): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
ERLIN1_chr10_100145094_100191029 | 100155503 | TATTTATT others(4): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(36): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0004g0011a0001c0001t0004g0024a0001c0001t0004g0051others(23): Show | 39 | 386 | 0.1010 | -11 | c.746 others(26): Show |
ERLIN1 | ENSG00000107566.14 | transcript | ENST00000421367.7 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
ERMAP_chr1_42812122_42849991 | 42832179 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0222 | 1 | 386 | 0.0026 | -11 | c.433 others(28): Show |
ERMAP | ENSG00000164010.15 | transcript | ENST00000372517.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ERMP1_chr9_5779572_5838117 | 5808624 | GGCTTACA others(4): Show |
G | intron_variant | MODIFIER | HG00438.hp2 NA18939.hp1 NA18943.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0185others(4): Show | 19 | 378 | 0.0503 | -11 | c.154 others(30): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 8/14 | chr9 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64089318 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0002a0001c0004a0001c0021 | a0001c0002t0006a0001c0004t0005a0001c0004t0018others(3): Show | a0001c0002t0006g0028a0001c0004t0005g0003a0001c0004t0005g0205others(9): Show | 13 | 234 | 0.0556 | -11 | c.176 others(28): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64106752 | ACACACAC others(4): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02886.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0006 | a0001c0001t0009g0128a0001c0001t0009g0129a0001c0001t0009g0130others(1): Show | 4 | 234 | 0.0171 | -11 | c.55- others(26): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
ERO1A_chr14_52634915_52700558 | 52647142 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0021a0001c0002t0023 | a0001c0001t0009g0162a0001c0001t0009g0322a0001c0001t0009g0323others(5): Show | 8 | 398 | 0.0201 | -11 | c.112 others(28): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 13/15 | chr14 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100100786 | TTATATAT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0089a0001c0001t0003g0095others(6): Show | 10 | 220 | 0.0455 | -11 | c.-19 others(22): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1787 | chr9 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8007497 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0133a0001c0002t0001g0021a0001c0002t0001g0027others(6): Show | 12 | 402 | 0.0299 | -11 | c.*57 others(22): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4229 | chr1 | TogoVar | ||||||
ERV3-1_chr7_64985356_65011687 | 65010288 | TTTGTGTG others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18991.hp2 NA19090.hp2 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0055a0004c0004t0003g0059 | 2 | 458 | 0.0044 | -11 | c.-41 others(22): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 3602 | chr7 | TogoVar | ||||||
ERVFRD-1_chr6_11097489_11116725 | 11116008 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01168.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0001a0001c0001t0002g0021a0001c0001t0005g0006 | 8 | 426 | 0.0188 | -11 | c.-46 others(22): Show |
ERVFRD-1 | ENSG00000244476.3 | transcript | ENST00000472091.2 | protein_coding | 4284 | chr6 | TogoVar | ||||||
ERVV-2_chr19_53039740_53056680 | 53051136 | CTTTTTTT others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(113): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0028a0001c0002t0001a0001c0002t0047others(11): Show | a0001c0001t0028g0002a0001c0002t0001g0001a0001c0002t0001g0008others(21): Show | 116 | 446 | 0.2601 | -11 | c.*29 others(20): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 2/2 | 295 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
ERVW-1_chr7_92463380_92482946 | 92465949 | GCCAAGAT others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0003 | 2 | 422 | 0.0047 | -11 | c.*28 others(22): Show |
ERVW-1 | ENSG00000242950.7 | transcript | ENST00000603053.2 | protein_coding | 2430 | chr7 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21544450 | TACAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0172a0001c0003t0002g0173a0001c0003t0002g0186 | 3 | 310 | 0.0097 | -11 | c.195 others(30): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 8/11 | chr18 | TogoVar | ||||||
ESCO2_chr8_27769554_27810316 | 27802629 | AAATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0140 | 1 | 380 | 0.0026 | -11 | c.167 others(28): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESCO2_chr8_27769554_27810316 | 27802645 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0130 | 1 | 380 | 0.0026 | -11 | c.167 others(28): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESCO2_chr8_27769554_27810316 | 27805287 | CAAAAAAA others(4): Show |
C | splice_region_variant | LOW | HG00280.hp2 HG00639.hp2 HG01109.hp2 others(12): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0009a0005c0006t0009 | a0001c0001t0009g0019a0001c0001t0009g0020a0001c0001t0009g0033others(7): Show | 15 | 380 | 0.0395 | -11 | c.*18 others(22): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESD_chr13_46766256_46802161 | 46797524 | CGTGTCAC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(161): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(66): Show | 164 | 406 | 0.4039 | -11 | c.-48 others(20): Show |
ESD | ENSG00000139684.15 | transcript | ENST00000378720.8 | protein_coding | 364 | chr13 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13716804 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01361.hp2 others(3): Show |
a0002a0010 | a0002c0003a0010c0018 | a0002c0003t0003a0010c0018t0003 | a0002c0003t0003g0131a0002c0003t0003g0132a0002c0003t0003g0133others(3): Show | 6 | 390 | 0.0154 | -11 | c.226 others(28): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13724306 | TAAATAAA others(4): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(114): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0208others(105): Show | 117 | 390 | 0.3000 | -11 | c.203 others(30): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 11/13 | chr20 | TogoVar | ||||||
ESPN_chr1_6419776_6465944 | 6431628 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 276 | 0.0036 | -11 | c.488 others(28): Show |
ESPN | ENSG00000187017.18 | transcript | ENST00000645284.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ESPN_chr1_6419776_6465944 | 6463725 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 276 | 0.0036 | -11 | c.*35 others(22): Show |
ESPN | ENSG00000187017.18 | transcript | ENST00000645284.1 | protein_coding | 2782 | chr1 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64246734 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0004 | a0002c0004t0045 | a0002c0004t0045g0028 | 1 | 368 | 0.0027 | -11 | c.122 others(30): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 7/8 | chr14 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94682921 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0347a0001c0003t0001g0348a0001c0003t0001g0349others(3): Show | 6 | 374 | 0.0160 | -11 | c.182 others(30): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94682922 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0354 | 1 | 374 | 0.0027 | -11 | c.182 others(30): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94690294 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0348 | 1 | 374 | 0.0027 | -11 | c.182 others(30): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94705156 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(188): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0010others(187): Show | 191 | 374 | 0.5107 | -11 | c.*36 others(26): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76393967 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01109.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0052a0001c0001t0001g0073a0001c0001t0001g0078others(22): Show | 25 | 318 | 0.0786 | -11 | c.50+ others(28): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76501955 | TTCCCTGG others(4): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01516.hp2 HG02074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0025 | a0001c0001t0008g0056a0001c0001t0008g0076a0001c0001t0008g0219others(2): Show | 5 | 318 | 0.0157 | -11 | c.*34 others(22): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 119 | chr14 | TogoVar | ||||||
ESYT1_chr12_56123267_56149674 | 56146061 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18981.hp1 NA19081.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0050a0002c0003t0002g0051 | 2 | 370 | 0.0054 | -11 | c.*22 others(22): Show |
ESYT1 | ENSG00000139641.13 | transcript | ENST00000394048.10 | protein_coding | 1388 | chr12 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729340 | CAAGCGTG others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 370 | 0.0027 | -11 | c.*48 others(22): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1656 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158738327 | ATACACAC others(4): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0271 | 1 | 370 | 0.0027 | -11 | c.226 others(28): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 19/22 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158814335 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0004 | a0002c0004t0037 | a0002c0004t0037g0208 | 1 | 370 | 0.0027 | -11 | c.330 others(30): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
ETF1_chr5_138501095_138548236 | 138501222 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01358.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0114a0001c0001t0001g0158others(2): Show | 5 | 334 | 0.0150 | -11 | c.*70 others(22): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 4872 | chr5 | TogoVar | ||||||
ETF1_chr5_138501095_138548236 | 138512218 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 334 | 0.0030 | -11 | c.732 others(26): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar |