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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDNRA_chr4_147476097_147549954 | 147505327 | A | ATTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0013others(4): Show | a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0172 others(11): Show |
14 | 67 | 0.2090 | 7 | c.421 others(26): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EDNRB_chr13_77890487_77923831 | 77908043 | A | AAAAAGAG | intron_variant | MODIFIER | HG02132.hp2 HG02615.hp2 HG02683.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0010 a0001c0001t0001g0081 a0001c0001t0001g0108 others(5): Show |
14 | 41 | 0.3415 | 7 | c.484 others(24): Show |
EDNRB | ENSG00000136160.17 | transcript | ENST00000646607.2 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
EDNRB_chr13_77890487_77923831 | 77908043 | A | AAAGAGAG | intron_variant | MODIFIER | HG00741.hp1 HG02257.hp1 HG02559.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0001g0055 a0001c0002t0001g0046 a0001c0002t0001g0047 others(5): Show |
12 | 39 | 0.3077 | 7 | c.484 others(24): Show |
EDNRB | ENSG00000136160.17 | transcript | ENST00000646607.2 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
EEA1_chr12_92765637_92934295 | 92794735 | G | GGGGGGGC | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00738.hp2 others(14): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0003a0001c0002t0045a0003c0005t0003others(1): Show | a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 others(14): Show |
17 | 236 | 0.0720 | 7 | c.296 others(26): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 21/28 | chr12 | TogoVar | |||||||
EEA1_chr12_92765637_92934295 | 92835400 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02818.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0016a0002c0003t0056 | a0002c0003t0004g0153 a0002c0003t0004g0154 a0002c0003t0004g0169 others(4): Show |
7 | 13 | 0.5385 | 7 | c.916 others(24): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 10/28 | chr12 | TogoVar | |||||||
EEF1A1_chr6_73510750_73526032 | 73524789 | T | TATATATA | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01515.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0014 | a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0003t0014g0018 |
8 | 220 | 0.0364 | 7 | c.-38 others(18): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3758 | chr6 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63491987 | T | TGATGGAG | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 |
6 | 372 | 0.0161 | 7 | c.772 others(24): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63499643 | A | AACCCCGG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 others(165): Show |
312 | 372 | 0.8387 | 7 | c.-65 others(16): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 561 | chr20 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124774406 | A | AAAAAAAG | intron_variant | MODIFIER | HG02738.hp2 HG03139.hp2 HG03927.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0104 others(7): Show |
10 | 26 | 0.3846 | 7 | c.399 others(22): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1E1_chr6_8074395_8107548 | 8092868 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG03579.hp2 NA18966.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0236 a0001c0001t0001g0241 others(1): Show |
4 | 250 | 0.0160 | 7 | c.289 others(24): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
EEF2KMT_chr16_5079284_5102795 | 5100177 | T | TTTTTTTC | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(10): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0007others(1): Show | a0002c0002t0002a0002c0005t0002a0002c0005t0020others(2): Show | a0002c0002t0002g0010 a0002c0005t0002g0258 a0002c0005t0020g0101 others(3): Show |
13 | 440 | 0.0295 | 7 | c.-24 others(18): Show |
EEF2KMT | ENSG00000118894.15 | transcript | ENST00000427587.9 | protein_coding | 2383 | chr16 | TogoVar | |||||||
EEF2K_chr16_22201278_22293738 | 22268644 | T | TTTTTTAA | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0027a0001c0002t0005a0001c0002t0023others(4): Show | a0001c0001t0027g0191 a0001c0002t0005g0055 a0001c0002t0005g0071 others(26): Show |
30 | 288 | 0.1042 | 7 | c.176 others(26): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22289211 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG02129.hp2 HG02622.hp2 HG03130.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0004a0002c0003t0004a0002c0003t0013others(1): Show | a0001c0002t0004g0068 a0001c0002t0004g0180 a0001c0002t0004g0202 others(6): Show |
9 | 172 | 0.0523 | 7 | c.*52 others(18): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 474 | chr16 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3978803 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(62): Show |
a0001 | a0001c0001a0001c0006a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0022 others(20): Show |
65 | 99 | 0.6566 | 7 | c.171 others(24): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 11/14 | chr19 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152977 | T | TCCCGCCC | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG01361.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0249 others(4): Show |
7 | 235 | 0.0298 | 7 | c.-53 others(16): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 503 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128293665 | A | AAAAAAAC | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(46): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0005a0001c0009t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(46): Show |
49 | 270 | 0.1815 | 7 | c.786 others(26): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128293672 | A | AAAAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(158): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0029 others(158): Show |
161 | 211 | 0.7630 | 7 | c.786 others(26): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128295451 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01175.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0001g0078 others(9): Show |
12 | 44 | 0.2727 | 7 | c.786 others(26): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36242135 | T | TATAAAAC | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0146 a0001c0001t0002g0263 a0001c0001t0002g0265 others(3): Show |
6 | 344 | 0.0174 | 7 | c.930 others(24): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAAAAAAT | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 NA18944.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0162 others(3): Show |
7 | 249 | 0.0281 | 7 | c.107 others(22): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAAAATAT | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01069.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(3): Show |
7 | 249 | 0.0281 | 7 | c.107 others(22): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAATATAT | intron_variant | MODIFIER | HG00280.hp1 HG01515.hp1 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0183 |
6 | 248 | 0.0242 | 7 | c.107 others(22): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89835643 | T | TGTGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG04204.hp2 NA18970.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0004a0001c0002t0043a0002c0005t0003 | a0001c0001t0004g0145 a0001c0002t0043g0001 a0002c0005t0003g0253 |
3 | 273 | 0.0110 | 7 | c.411 others(26): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89925648 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01074.hp1 others(60): Show |
a0001a0005 | a0001c0002a0001c0009a0005c0011 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0196 others(60): Show |
63 | 206 | 0.3058 | 7 | c.410 others(24): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB13_chr17_47318955_47446312 | 47325941 | T | TAAACAAA | intron_variant | MODIFIER | NA18943.hp1 NA18946.hp2 NA18962.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088 a0001c0001t0001g0111 a0001c0001t0001g0135 others(13): Show |
16 | 353 | 0.0453 | 7 | c.-24 others(24): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47421629 | A | AAAAAAAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02135.hp2 others(10): Show |
a0006a0008a0016 | a0006c0007a0008c0011a0016c0020 | a0006c0007t0001a0008c0011t0001a0016c0020t0001 | a0006c0007t0001g0059 a0006c0007t0001g0060 a0006c0007t0001g0062 others(10): Show |
13 | 354 | 0.0367 | 7 | c.249 others(26): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB14_chr1_46670159_46724114 | 46679599 | G | GTTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG01496.hp2 HG01928.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0003a0005c0007t0003 | a0001c0001t0003g0032 a0001c0001t0003g0198 a0001c0001t0003g0202 others(3): Show |
7 | 28 | 0.2500 | 7 | c.131 others(24): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
EFCAB2_chr1_244964682_245092837 | 245035667 | G | GACCAGTC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0008g0288 others(77): Show |
80 | 288 | 0.2778 | 7 | c.110 others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245056935 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(102): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(102): Show |
105 | 154 | 0.6818 | 7 | c.111 others(24): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 29986637 | A | ATTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG02451.hp1 others(6): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0002a0005c0007t0002 | a0003c0003t0002g0131 a0003c0003t0002g0133 a0003c0003t0002g0134 others(6): Show |
9 | 87 | 0.1034 | 7 | c.768 others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30080645 | T | TCATATAA | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | 246 | 0.0122 | 7 | c.319 others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30108563 | C | CTTTTTAA | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03098.hp2 HG03540.hp1 others(1): Show |
a0002a0003 | a0002c0017a0003c0003 | a0002c0017t0002a0003c0003t0002 | a0002c0017t0002g0035 a0003c0003t0002g0132 a0003c0003t0002g0133 others(1): Show |
4 | 246 | 0.0163 | 7 | c.*53 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 112 | chr17 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43586340 | A | ATTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG02572.hp1 HG03041.hp2 others(3): Show |
a0006a0007a0023others(2): Show | a0006c0006a0007c0014a0023c0033others(2): Show | a0006c0006t0001a0007c0014t0002a0023c0033t0001others(2): Show | a0006c0006t0001g0267 a0006c0006t0001g0268 a0007c0014t0002g0017 others(3): Show |
6 | 52 | 0.1154 | 7 | c.303 others(26): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43675458 | G | GATATAAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(175): Show |
a0001a0003a0006others(16): Show | a0001c0001a0001c0013a0001c0023others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(175): Show |
178 | 288 | 0.6181 | 7 | c.141 others(26): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 13/31 | chr22 | TogoVar | |||||||
EFEMP1_chr2_55860967_55928782 | 55878494 | G | GCTCAACT | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0002g0271 others(2): Show |
5 | 348 | 0.0144 | 7 | c.641 others(22): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19926662 | C | CTTTTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(222): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0026a0002c0002others(30): Show | a0001c0001t0002a0001c0026t0001a0002c0002t0001others(36): Show | a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0026t0001g0066 others(188): Show |
225 | 337 | 0.6677 | 7 | c.790 others(24): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 1/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19926662 | C | CTTTTTTG | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02818.hp2 others(1): Show |
a0007a0015 | a0007c0027a0015c0015 | a0007c0027t0002a0015c0015t0002 | a0007c0027t0002g0273 a0015c0015t0002g0012 |
4 | 116 | 0.0345 | 7 | c.790 others(24): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 1/12 | chr3 | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44262531 | A | AAGAAAAG | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0194 a0001c0001t0006g0075 others(36): Show |
39 | 194 | 0.2010 | 7 | c.383 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | TogoVar | |||||||
EFNA2_chr19_1280873_1306431 | 1282423 | G | GGAAGGGA | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02004.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0003g0006 a0001c0001t0003g0064 a0001c0001t0004g0002 others(4): Show |
7 | 292 | 0.0240 | 7 | c.-37 others(18): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3449 | chr19 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107435315 | C | CTTTTTTT | intron_variant | MODIFIER | HG02559.hp1 HG02922.hp1 NA20129.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0062others(2): Show | a0001c0001t0003g0130 a0001c0001t0016g0106 a0001c0001t0062g0166 others(2): Show |
5 | 97 | 0.0515 | 7 | c.126 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107591969 | T | TATATATA | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0071 a0001c0001t0002g0090 a0001c0001t0003g0066 others(18): Show |
21 | 188 | 0.1117 | 7 | c.125 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013969 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00738.hp2 others(10): Show |
a0001a0015 | a0001c0001a0001c0003a0015c0011 | a0001c0001t0001a0001c0003t0003a0015c0011t0001 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0125 others(10): Show |
13 | 322 | 0.0404 | 7 | c.*30 others(18): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 328 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(68): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0018a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0020others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(65): Show |
71 | 98 | 0.7245 | 7 | c.*72 others(18): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25039757 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0048a0001c0002t0001others(3): Show | a0001c0001t0005g0160 a0001c0001t0048g0218 a0001c0002t0001g0172 others(4): Show |
7 | 37 | 0.1892 | 7 | c.-25 others(18): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 2318 | chr2 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25062918 | A | ATTTTTCT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(15): Show | a0001c0001t0002g0067 a0001c0001t0002g0090 a0001c0001t0002g0120 others(59): Show |
62 | 304 | 0.2039 | 7 | c.7+2 others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25094282 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02738.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(3): Show | a0001c0001t0001g0188 a0001c0001t0005g0197 a0001c0001t0005g0202 others(4): Show |
7 | 11 | 0.6364 | 7 | c.212 others(24): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFTUD2_chr17_44844948_44904445 | 44876855 | C | CAAAAAAA | intron_variant | MODIFIER | HG01169.hp1 HG02129.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0311 a0001c0001t0003g0297 a0001c0001t0003g0309 others(5): Show |
8 | 83 | 0.0964 | 7 | c.703 others(22): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 9/27 | chr17 | TogoVar | |||||||
EGFL6_chrX_13564601_13638575 | 13600274 | T | TTTCTTTC | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02280.hp2 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0003a0002c0025others(3): Show | a0001c0001t0003a0002c0003t0004a0002c0025t0004others(4): Show | a0001c0001t0003g0083 a0002c0003t0004g0169 a0002c0025t0004g0030 others(4): Show |
7 | 300 | 0.0233 | 7 | c.400 others(22): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13625885 | C | CAAAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02559.hp1 others(5): Show |
a0001a0002a0011 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0004others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0161 a0001c0001t0001g0245 others(5): Show |
8 | 229 | 0.0349 | 7 | c.128 others(26): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55027991 | A | ATATATAT | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01070.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0026a0001c0004t0008a0001c0005t0006others(5): Show | a0001c0001t0026g0120 a0001c0004t0008g0070 a0001c0004t0008g0071 others(8): Show |
11 | 160 | 0.0688 | 7 | c.88+ others(22): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | chr7 | TogoVar |