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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDNRA_chr4_147476097_147549954 | 147504957 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01169.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0003g0135a0001c0001t0003g0136a0001c0001t0003g0175others(31): Show | 34 | 280 | 0.1214 | 9 | c.421 others(28): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EDNRA_chr4_147476097_147549954 | 147505327 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01123.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004 | a0001c0002t0001g0072a0001c0002t0003g0182a0001c0002t0003g0183others(2): Show | 5 | 280 | 0.0179 | 9 | c.421 others(28): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EEA1_chr12_92765637_92934295 | 92835400 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01256.hp1 HG01257.hp1 others(15): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0004a0002c0003t0043 | a0002c0003t0002g0145a0002c0003t0002g0146a0002c0003t0002g0149others(15): Show | 18 | 244 | 0.0738 | 9 | c.916 others(26): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 10/28 | chr12 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73524789 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp1 NA18612.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0003 | 8 | 424 | 0.0189 | 9 | c.-38 others(20): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3758 | chr6 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124774406 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02015.hp1 HG03130.hp1 HG03225.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0015 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0206others(4): Show | 7 | 358 | 0.0196 | 9 | c.399 others(24): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF2KMT_chr16_5079284_5102795 | 5100184 | C | CTTTTTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(284): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(178): Show | 287 | 442 | 0.6493 | 9 | c.-24 others(20): Show |
EEF2KMT | ENSG00000118894.15 | transcript | ENST00000427587.9 | protein_coding | 2390 | chr16 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22289211 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02451.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0004others(15): Show | 19 | 290 | 0.0655 | 9 | c.*52 others(20): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 474 | chr16 | TogoVar | ||||||
EEF2_chr19_3971056_3990463 | 3978803 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01074.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0036a0001c0001t0001g0046others(7): Show | 32 | 403 | 0.0794 | 9 | c.171 others(26): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 11/14 | chr19 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128176981 | G | GATTATTA others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG01928.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0235a0001c0001t0001g0239a0001c0002t0001g0002others(6): Show | 9 | 272 | 0.0331 | 9 | c.316 others(28): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108641143 | A | AGGGCTGG others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG03491.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(1): Show | 4 | 272 | 0.0147 | 9 | c.*59 others(20): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1822 | chr1 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36204419 | T | TGAGGAGG others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01257.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0002g0276a0001c0001t0005g0021a0001c0001t0006g0156others(3): Show | 6 | 346 | 0.0173 | 9 | c.879 others(28): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EFCAB11_chr14_89789669_89959730 | 89835643 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0005a0001c0002t0019a0001c0003t0037others(1): Show | a0001c0002t0005g0185a0001c0002t0019g0217a0001c0003t0037g0018others(1): Show | 4 | 284 | 0.0141 | 9 | c.411 others(28): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89921063 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01168.hp1 others(21): Show |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(10): Show | a0001c0003t0001g0011a0001c0003t0001g0012a0001c0003t0001g0017others(21): Show | 24 | 284 | 0.0845 | 9 | c.410 others(28): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129398039 | C | CGTGGGGT others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00642.hp1 others(23): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0011 | a0001c0001t0001a0004c0004t0001a0010c0011t0001 | a0001c0001t0001g0241a0004c0004t0001g0007a0004c0004t0001g0038others(16): Show | 26 | 386 | 0.0674 | 9 | c.*35 others(20): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 3281 | chr3 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47390914 | G | GTCTTATC others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01346.hp2 HG02056.hp2 others(27): Show |
a0003a0007a0009others(1): Show | a0003c0004a0003c0008a0003c0016others(3): Show | a0003c0004t0002a0003c0008t0003a0003c0016t0002others(3): Show | a0003c0004t0002g0109a0003c0004t0002g0214a0003c0004t0002g0220others(26): Show | 30 | 356 | 0.0843 | 9 | c.158 others(26): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245004008 | C | CCATTGGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0018others(254): Show | 258 | 290 | 0.8897 | 9 | c.26- others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245056935 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(102): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0018others(102): Show | 105 | 290 | 0.3621 | 9 | c.111 others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32890494 | A | AACCTCCA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(140): Show |
a0001a0002a0003others(36): Show | a0001c0001a0002c0002a0002c0011others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(57): Show | a0001c0001t0001g0124a0001c0001t0002g0027a0001c0001t0002g0052others(140): Show | 143 | 284 | 0.5035 | 9 | c.673 others(26): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFHC2_chrX_44142872_44348672 | 44251597 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 221 | 0.0045 | 9 | c.607 others(26): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44262531 | A | AAAAGAAA others(2): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0005a0010c0012t0001 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | 221 | 0.0181 | 9 | c.383 others(26): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44342875 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02976.hp1 NA19080.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0015a0001c0001t0001g0116a0002c0002t0002g0014 | 3 | 221 | 0.0136 | 9 | c.42+ others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44347996 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 HG02257.hp2 HG03209.hp1 others(3): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0011 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0046a0001c0001t0004g0108a0001c0001t0007g0115others(3): Show | 6 | 221 | 0.0272 | 9 | c.-44 others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4325 | chrX | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232647643 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(105): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0033others(103): Show | 108 | 382 | 0.2827 | 9 | c.302 others(28): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD2_chr1_15404888_15435339 | 15422073 | C | CCAGGTCA others(2): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18612.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0207a0001c0001t0001g0210 | 3 | 424 | 0.0071 | 9 | c.309 others(26): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107399315 | A | AAGGAAAC others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03486.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0055a0001c0001t0067others(1): Show | a0001c0001t0053g0036a0001c0001t0055g0095a0001c0001t0067g0175others(1): Show | 4 | 190 | 0.0211 | 9 | c.419 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107448866 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0053a0001c0001t0054others(1): Show | a0001c0001t0037g0129a0001c0001t0053g0036a0001c0001t0054g0140others(1): Show | 4 | 190 | 0.0211 | 9 | c.126 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107496539 | A | ACATGTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0074a0001c0001t0001g0139others(25): Show | 28 | 190 | 0.1474 | 9 | c.126 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107515362 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01175.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0134a0001c0001t0001g0136a0001c0001t0003g0183others(13): Show | 16 | 190 | 0.0842 | 9 | c.126 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107556785 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01106.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0098a0001c0001t0001g0134a0001c0001t0001g0185others(9): Show | 12 | 190 | 0.0632 | 9 | c.125 others(30): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 131957350 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(31): Show |
a0001a0009a0011 | a0001c0001a0001c0007a0009c0011others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0007t0001others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0097others(27): Show | 34 | 412 | 0.0825 | 9 | c.776 others(26): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 132013969 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG02074.hp1 HG03017.hp2 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0006a0001c0003t0003g0007a0001c0003t0003g0024others(10): Show | 14 | 412 | 0.0340 | 9 | c.*30 others(20): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 328 | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 HG01975.hp2 HG01978.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0074a0001c0001t0001g0165a0001c0001t0001g0167others(6): Show | 9 | 412 | 0.0218 | 9 | c.*30 others(20): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0117a0001c0001t0001g0212others(5): Show | 11 | 412 | 0.0267 | 9 | c.*72 others(20): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25161587 | C | CGCCGCTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01070.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0015a0001c0001t0016others(8): Show | a0001c0001t0005g0157a0001c0001t0005g0161a0001c0001t0005g0165others(30): Show | 33 | 306 | 0.1078 | 9 | c.*72 others(20): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 2453 | chr2 | TogoVar | ||||||
EFTUD2_chr17_44844948_44904445 | 44857920 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060a0001c0001t0001g0063a0001c0001t0001g0064others(4): Show | 7 | 370 | 0.0189 | 9 | c.196 others(26): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 19/27 | chr17 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13600277 | C | CTTTCTTC others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02886.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0148a0001c0005t0001g0219a0001c0005t0001g0280 | 3 | 302 | 0.0099 | 9 | c.400 others(24): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13623376 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02004.hp1 HG02148.hp2 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0002a0003c0006t0004a0003c0006t0006 | a0003c0006t0002g0121a0003c0006t0002g0128a0003c0006t0004g0289others(1): Show | 5 | 302 | 0.0166 | 9 | c.118 others(26): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | chrX | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13623377 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0055 | 1 | 302 | 0.0033 | 9 | c.118 others(26): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13637652 | C | CGGGGTCA others(2): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 302 | 0.0033 | 9 | c.*45 others(20): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 4078 | chrX | TogoVar | ||||||
EGFLAM_chr5_38253559_38470480 | 38288604 | A | AAAATATA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02809.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0016a0001c0001t0017a0002c0002t0007others(5): Show | a0001c0001t0016g0147a0001c0001t0017g0085a0002c0002t0007g0095others(6): Show | 9 | 190 | 0.0474 | 9 | c.97+ others(26): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55027991 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01243.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0035a0001c0014t0020a0002c0002t0042others(2): Show | a0001c0001t0035g0052a0001c0014t0020g0087a0002c0002t0042g0053others(2): Show | 5 | 250 | 0.0200 | 9 | c.88+ others(24): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | chr7 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109970824 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01175.hp1 others(57): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0016a0003c0003others(8): Show | a0001c0001t0011a0001c0016t0002a0001c0016t0006others(18): Show | a0001c0001t0011g0141a0001c0001t0011g0143a0001c0001t0011g0144others(55): Show | 60 | 388 | 0.1546 | 9 | c.172 others(28): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62729432 | A | AATAATAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(90): Show | 93 | 198 | 0.4697 | 9 | c.105 others(28): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62729514 | A | AATATAAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(104): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(104): Show | 107 | 198 | 0.5404 | 9 | c.105 others(28): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62894927 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0165 | 2 | 198 | 0.0101 | 9 | c.118 others(30): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62895278 | T | TATCATCA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03831.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0101a0002c0002t0001g0004 | 2 | 198 | 0.0101 | 9 | c.118 others(30): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD1_chr11_64846642_64883621 | 64851102 | G | GTGGGACC others(2): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01496.hp1 others(28): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0002t0004a0001c0002t0015others(10): Show | a0001c0002t0002g0007a0001c0002t0004g0145a0001c0002t0015g0140others(18): Show | 31 | 354 | 0.0876 | 9 | c.*32 others(20): Show |
EHD1 | ENSG00000110047.18 | transcript | ENST00000320631.8 | protein_coding | 539 | chr11 | TogoVar | ||||||
EHD1_chr11_64846642_64883621 | 64879814 | C | CGACTTTG others(2): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 NA18952.hp1 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0050a0001c0001t0001g0052 | 3 | 354 | 0.0085 | 9 | c.-13 others(20): Show |
EHD1 | ENSG00000110047.18 | transcript | ENST00000320631.8 | protein_coding | 1194 | chr11 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47725396 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02809.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0338a0001c0002t0002g0168a0001c0002t0002g0320others(7): Show | 11 | 398 | 0.0276 | 9 | c.503 others(24): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47731279 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0003a0001c0002t0008a0001c0014t0008 | a0001c0002t0003g0018a0001c0002t0003g0028a0001c0002t0003g0029others(3): Show | 6 | 398 | 0.0151 | 9 | c.915 others(26): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |