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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ECT2L_chr6_138791087_138909070 | 138890492 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0309 | 1 | 15 | 0.0667 | -15 | c.241 others(34): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236464423 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0007 | 1 | 198 | 0.0051 | -15 | c.220 others(32): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69612261 | GTTTTATT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00735.hp2 others(68): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0033 others(68): Show |
71 | 83 | 0.8554 | -15 | c.-40 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 3851 | chrX | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69749919 | GTTCTTTT others(8): Show |
G | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 108 | 0.0093 | -15 | c.396 others(36): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69810257 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG00741.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0210 others(9): Show |
12 | 15 | 0.8000 | -15 | c.397 others(36): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69978318 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 37 | 0.0270 | -15 | c.502 others(34): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDDM13_chr19_56267748_56315454 | 56302566 | TCCTTTTC others(8): Show |
T | intron_variant | MODIFIER | HG03710.hp2 HG04184.hp1 HG04199.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0278 others(5): Show |
11 | 393 | 0.0280 | -15 | c.423 others(30): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EDDM13_chr19_56267748_56315454 | 56302580 | CCCCTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00741.hp2 others(73): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(59): Show |
76 | 394 | 0.1929 | -15 | c.423 others(30): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EDDM13_chr19_56267748_56315454 | 56302585 | TTTCTTCC others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0055 a0001c0001t0001g0057 others(21): Show |
25 | 390 | 0.0641 | -15 | c.423 others(30): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84006343 | TAAAACAA others(8): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0001g0148 others(6): Show |
9 | 76 | 0.1184 | -15 | c.113 others(36): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84160744 | TCTTTCCT others(8): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG01993.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0005 | a0001c0001t0002g0118 a0001c0001t0004g0113 a0001c0003t0005g0050 |
3 | 39 | 0.0769 | -15 | c.355 others(34): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84384918 | GCGCCCGC others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00738.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 others(20): Show |
23 | 156 | 0.1474 | -15 | c.-55 others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 39 | chr5 | TogoVar | |||||||
EEA1_chr12_92765637_92934295 | 92865714 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0003 | a0001c0001t0001a0001c0012t0006a0002c0003t0002others(5): Show | a0001c0001t0001g0082 a0001c0012t0006g0159 a0002c0003t0002g0001 others(42): Show |
46 | 138 | 0.3333 | -15 | c.118 others(30): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124795595 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0308 a0001c0001t0004g0310 a0001c0001t0004g0311 others(13): Show |
16 | 43 | 0.3721 | -15 | c.-37 others(26): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3709 | chr10 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128211837 | CTTTTTCT others(8): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 263 | 0.0038 | -15 | c.317 others(34): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEIG1_chr9_127935582_127985989 | 127965106 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0014a0001c0001t0019others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0142 others(24): Show |
29 | 72 | 0.4028 | -15 | c.147 others(34): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36165411 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03139.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0035 | a0001c0001t0009g0328 a0001c0001t0035g0327 |
2 | 105 | 0.0190 | -15 | c.878 others(34): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36216529 | TTACACAC others(8): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0339 | 1 | 344 | 0.0029 | -15 | c.879 others(34): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36271798 | CCTATTCT others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG01516.hp2 others(30): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0082 a0001c0001t0001g0117 a0001c0001t0001g0271 others(30): Show |
33 | 231 | 0.1429 | -15 | c.931 others(32): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36271869 | CTATTCTA others(8): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG03486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0269 a0001c0001t0001g0279 a0001c0001t0001g0284 others(7): Show |
10 | 343 | 0.0292 | -15 | c.931 others(32): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105583167 | AGGGCGGG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 2 | 426 | 0.0047 | -15 | c.-17 others(26): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1675 | chr7 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89834375 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0009 | a0001c0009t0014 | a0001c0009t0014g0270 | 1 | 183 | 0.0055 | -15 | c.411 others(34): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89842597 | AATATGAT others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0003t0004 | a0001c0001t0002g0044 a0001c0001t0006g0149 a0001c0003t0004g0005 |
3 | 96 | 0.0313 | -15 | c.411 others(34): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB12_chr3_129396321_129433636 | 129397961 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01175.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0055 a0001c0007t0001g0041 a0001c0007t0001g0184 others(5): Show |
9 | 235 | 0.0383 | -15 | c.*36 others(26): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 3359 | chr3 | TogoVar | |||||||
EFCAB14_chr1_46670159_46724114 | 46679599 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02818.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0015 a0002c0004t0009g0130 |
4 | 25 | 0.1600 | -15 | c.131 others(32): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
EFCAB5_chr17_29936634_30113452 | 30110307 | ACCTCCTG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0216 | 1 | 246 | 0.0041 | -15 | c.*22 others(26): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1856 | chr17 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43548539 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19091.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0219 | 1 | 66 | 0.0152 | -15 | c.364 others(34): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 27/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43599509 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0286 | 1 | 6 | 0.1667 | -15 | c.287 others(32): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 23/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43662159 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
a0001a0007a0019others(1): Show | a0001c0001a0007c0014a0019c0031others(1): Show | a0001c0001t0001a0001c0001t0002a0007c0014t0005others(2): Show | a0001c0001t0001g0083 a0001c0001t0001g0153 a0001c0001t0002g0007 others(7): Show |
10 | 85 | 0.1176 | -15 | c.198 others(34): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 17/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43744080 | GATGAATG others(8): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02145.hp1 HG02280.hp2 others(2): Show |
a0002 | a0002c0002a0002c0019 | a0002c0002t0001a0002c0019t0001 | a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 others(2): Show |
5 | 286 | 0.0175 | -15 | c.508 others(32): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 6/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43760212 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(64): Show |
a0001a0008 | a0001c0001a0001c0035a0001c0046others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0035t0001others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(64): Show |
67 | 288 | 0.2326 | -15 | c.441 others(32): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 5/31 | chr22 | TogoVar | |||||||
EFCAB8_chr20_32853923_32966845 | 32860493 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03491.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0060 | 1 | 104 | 0.0096 | -15 | c.-11 others(32): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32939188 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG02717.hp1 |
a0001a0009 | a0001c0001a0009c0015 | a0001c0001t0001a0009c0015t0001 | a0001c0001t0001g0163 a0009c0015t0001g0100 |
2 | 282 | 0.0071 | -15 | c.279 others(34): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | chr20 | TogoVar | |||||||
EFEMP1_chr2_55860967_55928782 | 55904970 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01070.hp2 others(13): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0074 others(10): Show |
16 | 348 | 0.0460 | -15 | c.517 others(34): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 5/11 | chr2 | TogoVar | |||||||
EFHC1_chr6_52415342_52502198 | 52463001 | TTTTGTTT others(8): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0097 | 1 | 394 | 0.0025 | -15 | c.917 others(32): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44251597 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02523.hp1 HG04115.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0062 a0001c0001t0001g0127 a0001c0001t0004g0060 others(1): Show |
4 | 18 | 0.2222 | -15 | c.607 others(32): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44282632 | GGGGGTGG others(8): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01361.hp1 HG01928.hp1 others(12): Show |
a0002a0003a0004 | a0002c0002a0002c0008a0003c0003others(1): Show | a0002c0002t0002a0002c0002t0004a0002c0008t0004others(3): Show | a0002c0002t0002g0076 a0002c0002t0002g0192 a0002c0002t0004g0191 others(12): Show |
15 | 219 | 0.0685 | -15 | c.232 others(32): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | |||||||
EFHD1_chr2_232628604_232687776 | 232687347 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0048 others(97): Show |
102 | 379 | 0.2691 | -15 | c.*56 others(26): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 4572 | chr2 | TogoVar | |||||||
EFNA2_chr19_1280873_1306431 | 1300241 | ATTTTTTT others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0039 | 1 | 49 | 0.0204 | -15 | c.*31 others(24): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 317 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107380373 | TTAAAAAA others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0156 a0001c0001t0014g0180 |
2 | 105 | 0.0190 | -15 | c.*86 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 5/5 | 867 | chr5 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25041238 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00733.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(12): Show | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 others(45): Show |
48 | 51 | 0.9412 | -15 | c.-10 others(26): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 837 | chr2 | TogoVar | |||||||
EGFL6_chrX_13564601_13638575 | 13598558 | AGTTGTTG others(8): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 151 | 0.0066 | -15 | c.281 others(32): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13625895 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 300 | 0.0033 | -15 | c.128 others(34): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFLAM_chr5_38253559_38470480 | 38330201 | CCAATATT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01123.hp2 others(1): Show |
a0001a0024 | a0001c0001a0024c0024 | a0001c0001t0001a0024c0024t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0076 others(1): Show |
4 | 188 | 0.0213 | -15 | c.98- others(30): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
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 | a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0047 others(34): Show |
37 | 188 | 0.1968 | -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 | a0001c0003t0064g0122 | 1 | 248 | 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 |
a0001a0002a0020 | a0001c0001a0002c0002a0020c0029 | a0001c0001t0014a0001c0001t0018a0002c0002t0001others(2): Show | a0001c0001t0014g0235 a0001c0001t0018g0233 a0002c0002t0001g0131 others(4): Show |
7 | 104 | 0.0673 | -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 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 334 | 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 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0053 others(2): Show |
6 | 63 | 0.0952 | -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 | 196 | 0.0051 | -15 | c.104 others(34): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |