| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EFNA5_chr5_107371894_107675937 | 107660261 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0031 | a0001c0001t0018g0064a0001c0001t0031g0001 | 2 | 190 | 0.0105 | -30 | c.125 others(49): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EGFL6_chrX_13564601_13638575 | 13573754 | TTTGATTT others(23): Show |
T | intron_variant | MODIFIER | HG02293.hp1 HG02451.hp1 HG02622.hp1 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0038a0001c0001t0002g0039a0001c0001t0003g0043others(9): Show | 12 | 302 | 0.0397 | -30 | c.74+ others(45): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| EGFL6_chrX_13564601_13638575 | 13577296 | TTTTATAT others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(183): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0056others(179): Show | 186 | 302 | 0.6159 | -30 | c.74+ others(45): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| EGLN1_chr1_231358756_231427287 | 231359054 | TTATATAT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02818.hp1 HG02886.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0001g0258a0001c0001t0001g0259a0001c0001t0001g0260others(6): Show | 9 | 338 | 0.0266 | -30 | c.*73 others(41): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4701 | chr1 | TogoVar | ||||||
| EGLN1_chr1_231358756_231427287 | 231424127 | CTAATACT others(23): Show |
C | upstream_gene_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 338 | 0.0030 | -30 | c.-22 others(41): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1841 | chr1 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137795412 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0072 | 1 | 170 | 0.0059 | -30 | c.250 others(49): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EIF2AK4_chr15_39929115_40040591 | 40017501 | CTATATAT others(23): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02886.hp2 others(5): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0026 | a0002c0002t0003a0002c0004t0003a0002c0004t0005others(1): Show | a0002c0002t0003g0162a0002c0002t0003g0335a0002c0002t0003g0336others(5): Show | 8 | 368 | 0.0217 | -30 | c.406 others(47): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| EIF2B3_chr1_44845522_44991595 | 44972260 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00639.hp2 others(74): Show |
a0001a0002a0004 | a0001c0002a0002c0007a0004c0006 | a0001c0002t0001a0001c0002t0004a0002c0007t0001others(1): Show | a0001c0002t0001g0134a0001c0002t0001g0135a0001c0002t0001g0136others(74): Show | 77 | 322 | 0.2391 | -30 | c.294 others(47): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
| EIF3A_chr10_119028670_119085817 | 119042184 | CCCTCGCC others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG02040.hp2 HG02451.hp2 HG02630.hp2 others(1): Show |
a0004 | a0004c0007a0004c0014 | a0004c0007t0012a0004c0007t0021a0004c0014t0018 | a0004c0007t0012g0328a0004c0007t0012g0329a0004c0007t0021g0025others(1): Show | 4 | 350 | 0.0114 | -30 | c.330 others(39): Show |
p.Met others(15): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 19/22 | 3476/6659 | 3306/4149 | 1102/1382 | chr10 | TogoVar | ||
| EIF4A1_chr17_7567825_7584006 | 7571837 | TTATATAT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01516.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0004t0001a0001c0004t0006others(1): Show | a0001c0002t0001g0002a0001c0004t0001g0005a0001c0004t0006g0014others(1): Show | 10 | 436 | 0.0229 | -30 | c.-10 others(40): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 987 | chr17 | TogoVar | ||||||
| EIF4A1_chr17_7567825_7584006 | 7571880 | TATATATA others(23): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 436 | 0.0023 | -30 | c.-96 others(39): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 944 | chr17 | TogoVar | ||||||
| EIF4A1_chr17_7567825_7584006 | 7571882 | TATATATA others(23): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01167.hp1 HG01169.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0024others(2): Show | 17 | 436 | 0.0390 | -30 | c.-95 others(39): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 942 | chr17 | TogoVar | ||||||
| EIF4G3_chr1_20801479_21181897 | 20943970 | TTTTTTGT others(23): Show |
T | intron_variant | MODIFIER | HG03130.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0046a0001c0001t0023g0029 | 2 | 312 | 0.0064 | -30 | c.824 others(47): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 13/36 | chr1 | TogoVar | ||||||
| ELAPOR2_chr7_86871906_87064654 | 87045294 | AAGACACA others(23): Show |
A | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 | 1 | 196 | 0.0051 | -30 | c.189 others(49): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
| ELAVL2_chr9_23685104_23831240 | 23779979 | TAAAAAAA others(23): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01496.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0165a0001c0001t0001g0169others(10): Show | 13 | 352 | 0.0369 | -30 | c.-15 others(49): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| ELAVL2_chr9_23685104_23831240 | 23796948 | TAACTATA others(23): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0307 | 1 | 352 | 0.0028 | -30 | c.-16 others(49): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| ELAVL3_chr19_11446326_11486046 | 11465265 | TACACCAC others(23): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 318 | 0.0031 | -30 | c.333 others(45): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
| ELF1_chr13_40926924_41024316 | 40953976 | CAAAGACT others(23): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 362 | 0.0028 | -30 | c.254 others(47): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 3/8 | chr13 | TogoVar | ||||||
| ELL2_chr5_95880098_95966851 | 95927688 | CGTGTGTA others(23): Show |
C | intron_variant | MODIFIER | HG01978.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219a0001c0001t0002g0220 | 2 | 314 | 0.0064 | -30 | c.196 others(47): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
| ELL_chr19_18437663_18527070 | 18509593 | GCACATAC others(23): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0174a0001c0005t0007g0175 | 2 | 244 | 0.0082 | -30 | c.135 others(49): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| ELMO1_chr7_36847906_37453864 | 37188425 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 92 | 0.0109 | -30 | c.108 others(51): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
| ELMOD1_chr11_107586147_107671779 | 107590332 | TTCTCTCT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 342 | 0.0029 | -30 | c.-11 others(41): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 814 | chr11 | TogoVar | ||||||
| ELOVL7_chr5_60746791_60849269 | 60802089 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(3): Show | 6 | 258 | 0.0233 | -30 | c.-85 others(47): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
| ELOVL7_chr5_60746791_60849269 | 60819099 | GGGAGAGG others(23): Show |
G | intron_variant | MODIFIER | HG03927.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017 | a0001c0001t0007g0030a0001c0001t0017g0035 | 2 | 258 | 0.0078 | -30 | c.-85 others(49): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
| ELP3_chr8_28088139_28196153 | 28119572 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0297a0001c0001t0004g0002a0001c0001t0004g0017others(63): Show | 72 | 398 | 0.1809 | -30 | c.617 others(47): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ELSPBP1_chr19_47989632_48030154 | 48003886 | CTTCTATT others(23): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01884.hp2 HG02055.hp2 others(1): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0002a0004c0004t0002a0005c0005t0004 | a0001c0001t0002g0121a0004c0004t0002g0125a0005c0005t0004g0122others(1): Show | 4 | 388 | 0.0103 | -30 | c.-17 others(47): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| EMC10_chr19_50471507_50495871 | 50488545 | TGGGTGGG others(23): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0134 | a0001c0001t0134g0002 | 1 | 352 | 0.0028 | -30 | c.*63 others(41): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 7/7 | 6302 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| EMCN_chr4_100390341_100523022 | 100459168 | GCTCTCTC others(23): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02896.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0028a0001c0001t0038others(2): Show | a0001c0001t0002g0161a0001c0001t0028g0175a0001c0001t0038g0211others(3): Show | 6 | 262 | 0.0229 | -30 | c.376 others(47): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99919398 | CCACACAC others(23): Show |
C | intron_variant | MODIFIER | HG02155.hp1 NA19005.hp2 |
a0003 | a0003c0002 | a0003c0002t0001a0003c0002t0003 | a0003c0002t0001g0154a0003c0002t0003g0155 | 2 | 288 | 0.0069 | -30 | c.182 others(49): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| EML4_chr2_42164353_42337548 | 42226424 | CCGAGGCG others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp1 others(57): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0122a0001c0001t0003g0119a0001c0001t0003g0120others(57): Show | 60 | 358 | 0.1676 | -30 | c.26- others(47): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EML5_chr14_88607431_88797953 | 88796734 | ATATATTA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 NA18973.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0248a0002c0002t0001g0249 | 2 | 332 | 0.0060 | -30 | c.-42 others(41): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3782 | chr14 | TogoVar | ||||||
| EML5_chr14_88607431_88797953 | 88796741 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG03225.hp1 HG03490.hp1 HG03492.hp2 others(5): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0002a0001c0001t0003a0002c0002t0003others(1): Show | a0001c0001t0002g0096a0001c0001t0002g0136a0001c0001t0002g0167others(5): Show | 8 | 332 | 0.0241 | -30 | c.-42 others(41): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3789 | chr14 | TogoVar | ||||||
| EML5_chr14_88607431_88797953 | 88796780 | TTATATGT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 332 | 0.0030 | -30 | c.-43 others(41): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3828 | chr14 | TogoVar | ||||||
| ENDOV_chr17_80410167_80443086 | 80421578 | CGGACCAG others(23): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 420 | 0.0024 | -30 | c.229 others(45): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ENKUR_chr10_24976985_25021158 | 24988664 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 384 | 0.0026 | -30 | c.594 others(47): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
| ENOSF1_chr18_665318_717630 | 666888 | GGGAGATG others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG01258.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0329a0004c0008t0001g0367a0004c0008t0001g0368 | 3 | 418 | 0.0072 | -30 | c.*73 others(41): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3429 | chr18 | TogoVar | ||||||
| ENOSF1_chr18_665318_717630 | 666933 | TGATGGAG others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02004.hp1 HG02109.hp2 NA19057.hp1 others(1): Show |
a0001a0003 | a0001c0006a0003c0004a0003c0007 | a0001c0006t0004a0003c0004t0003a0003c0007t0003others(1): Show | a0001c0006t0004g0320a0003c0004t0003g0387a0003c0007t0003g0389others(1): Show | 4 | 418 | 0.0096 | -30 | c.*73 others(41): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3384 | chr18 | TogoVar | ||||||
| ENOSF1_chr18_665318_717630 | 666957 | AGATGGAG others(23): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0060 | 1 | 418 | 0.0024 | -30 | c.*73 others(41): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3360 | chr18 | TogoVar | ||||||
| ENOSF1_chr18_665318_717630 | 667029 | TGATGGAG others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0089 | 1 | 418 | 0.0024 | -30 | c.*72 others(41): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3288 | chr18 | TogoVar | ||||||
| ENOSF1_chr18_665318_717630 | 667346 | AGATGGTG others(23): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 418 | 0.0024 | -30 | c.*69 others(41): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2971 | chr18 | TogoVar | ||||||
| ENOX1_chr13_43208130_43791972 | 43247828 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02080.hp1 HG02273.hp1 HG02523.hp2 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0002g0022a0001c0001t0002g0058a0001c0001t0002g0082others(4): Show | 7 | 188 | 0.0372 | -30 | c.161 others(51): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | ||||||
| ENOX1_chr13_43208130_43791972 | 43790583 | TAAAAAAA others(23): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp2 HG02055.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0032others(2): Show | a0001c0001t0003g0118a0001c0001t0005g0168a0001c0001t0005g0170others(5): Show | 8 | 188 | 0.0426 | -30 | c.-42 others(41): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3612 | chr13 | TogoVar | ||||||
| ENSA_chr1_150617125_150634612 | 150631286 | TGAACCTA others(23): Show |
T | upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | -30 | c.-18 others(41): Show |
ENSA | ENSG00000143420.19 | transcript | ENST00000369014.10 | protein_coding | 1675 | chr1 | TogoVar | ||||||
| ENTHD1_chr22_39738044_39898760 | 39768987 | CACACACT others(23): Show |
C | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 218 | 0.0046 | -30 | c.833 others(47): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 5/6 | chr22 | TogoVar | ||||||
| ENTREP2_chr15_29115252_29575979 | 29219614 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG06807.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0035a0002c0004t0003 | a0002c0003t0035g0104a0002c0004t0003g0111 | 2 | 125 | 0.0160 | -30 | c.388 others(49): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
| EP300_chr22_41087592_41185077 | 41167584 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01516.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0008a0002c0003t0013 | a0001c0001t0008g0218a0001c0001t0008g0238a0001c0001t0008g0241others(2): Show | 5 | 300 | 0.0167 | -30 | c.387 others(47): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| EPAS1_chr2_46292407_46391697 | 46362953 | AGTGGTGG others(23): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 326 | 0.0031 | -30 | c.779 others(47): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EPCAM_chr2_47364311_47392020 | 47365506 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 450 | 0.0022 | -30 | c.-39 others(41): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3804 | chr2 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47365508 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp2 HG02145.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0175a0001c0001t0001g0319 | 3 | 450 | 0.0067 | -30 | c.-39 others(41): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3802 | chr2 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47365510 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG02040.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0151a0001c0001t0001g0156a0001c0001t0001g0160others(1): Show | 4 | 450 | 0.0089 | -30 | c.-39 others(41): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3800 | chr2 | TogoVar |