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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC3L2_chr19_45207370_45250407 | 45245740 | C | CGGGGGGT others(4): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0002 | a0001c0002t0004g0009a0001c0002t0004g0010a0001c0002t0004g0011others(1): Show | 4 | 356 | 0.0112 | 11 | c.-41 others(20): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 334 | chr19 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103096401 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01099.hp2 HG01175.hp2 others(21): Show |
a0003a0006a0007others(3): Show | a0003c0001a0006c0009a0007c0018others(5): Show | a0003c0001t0001a0003c0001t0003a0006c0009t0001others(6): Show | a0003c0001t0001g0169a0003c0001t0001g0170a0003c0001t0001g0171others(21): Show | 24 | 404 | 0.0594 | 11 | c.-17 others(28): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXOC3_chr5_438176_472290 | 441497 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01496.hp2 others(22): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0015others(16): Show | 25 | 418 | 0.0598 | 11 | c.-18 others(22): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133516758 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0081 | 1 | 102 | 0.0098 | 11 | c.141 others(32): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133558211 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0043 | 1 | 102 | 0.0098 | 11 | c.141 others(32): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133594493 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01192.hp1 HG02027.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0075a0001c0002t0001g0002a0001c0002t0001g0022others(8): Show | 11 | 102 | 0.1078 | 11 | c.141 others(32): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133604706 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 NA18945.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0005t0007 | a0001c0003t0002g0015a0001c0005t0007g0025 | 2 | 102 | 0.0196 | 11 | c.141 others(32): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133755234 | A | AATATATA others(4): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0084 | 1 | 102 | 0.0098 | 11 | c.151 others(32): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133823857 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 102 | 0.0098 | 11 | c.173 others(30): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133823861 | A | ATATATAA others(4): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0049 | 1 | 102 | 0.0098 | 11 | c.173 others(30): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133823861 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 102 | 0.0098 | 11 | c.173 others(30): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133823884 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 102 | 0.0098 | 11 | c.173 others(30): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133844378 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0058 | 1 | 102 | 0.0098 | 11 | c.173 others(32): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC5_chr14_57195507_57273905 | 57267467 | C | CAAAAACT others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 214 | 0.0047 | 11 | c.27+ others(26): Show |
EXOC5 | ENSG00000070367.17 | transcript | ENST00000621441.5 | protein_coding | 1/17 | chr14 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72189860 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0048a0001c0001t0018g0063 | 2 | 104 | 0.0192 | 11 | c.219 others(30): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72189860 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0081 | 1 | 104 | 0.0096 | 11 | c.219 others(30): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72307161 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0020a0001c0002t0013g0024 | 2 | 104 | 0.0192 | 11 | c.219 others(32): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72508184 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0031a0001c0001t0002g0035a0001c0001t0003g0047others(2): Show | 5 | 104 | 0.0481 | 11 | c.116 others(30): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 11/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72767808 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0079 | 1 | 104 | 0.0096 | 11 | c.114 others(30): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92858022 | T | TCCCCCCC others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG02273.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0001g0034a0001c0001t0001g0035others(4): Show | 7 | 288 | 0.0243 | 11 | c.101 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 93050759 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01258.hp2 HG01261.hp2 others(31): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0076a0001c0001t0002g0093others(31): Show | 34 | 288 | 0.1181 | 11 | c.217 others(30): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC7_chr17_76076016_76108787 | 76077966 | C | CGGGGGGG others(4): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01261.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0124a0001c0001t0001g0231 | 3 | 366 | 0.0082 | 11 | c.*56 others(22): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 3049 | chr17 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11083562 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0266 | 1 | 284 | 0.0035 | 11 | c.109 others(28): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 9/24 | chr1 | TogoVar | ||||||
EXOSC2_chr9_130688780_130709892 | 130691020 | C | CTTTCTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG03041.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0039others(2): Show | 18 | 426 | 0.0423 | 11 | c.-27 others(22): Show |
EXOSC2 | ENSG00000130713.17 | transcript | ENST00000372358.10 | protein_coding | 2759 | chr9 | TogoVar | ||||||
EXOSC3_chr9_37774714_37790064 | 37787097 | A | AAAAGTAA others(4): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 432 | 0.0023 | 11 | c.-20 others(22): Show |
EXOSC3 | ENSG00000107371.14 | transcript | ENST00000327304.10 | protein_coding | 2034 | chr9 | TogoVar | ||||||
EXOSC8_chr13_36995786_37014614 | 36996027 | T | TTTTGCAG others(4): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02109.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0075 | 9 | 390 | 0.0231 | 11 | c.-47 others(22): Show |
EXOSC8 | ENSG00000120699.14 | transcript | ENST00000389704.4 | protein_coding | 4758 | chr13 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532367 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01074.hp1 HG01256.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0028others(2): Show | a0001c0001t0002a0002c0002t0013a0002c0028t0033others(2): Show | a0001c0001t0002g0130a0002c0002t0013g0192a0002c0028t0033g0177others(2): Show | 5 | 314 | 0.0159 | 11 | c.444 others(28): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108570227 | A | ATTTTTAT others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(150): Show |
a0001a0002a0003others(23): Show | a0001c0001a0002c0002a0002c0035others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(56): Show | a0001c0001t0001g0091a0001c0001t0002g0189a0001c0001t0008g0030others(148): Show | 153 | 314 | 0.4873 | 11 | c.119 others(30): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108573139 | G | GGAAGAAA others(4): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0006 | a0006c0006 | a0006c0006t0049 | a0006c0006t0049g0309 | 1 | 314 | 0.0032 | 11 | c.119 others(30): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117809242 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18957.hp2 NA18969.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0044 | a0001c0001t0002g0107a0001c0001t0003g0036a0001c0001t0003g0037others(6): Show | 9 | 190 | 0.0474 | 11 | c.172 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117827784 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0009 | 1 | 190 | 0.0053 | 11 | c.128 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 4/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117858791 | A | AGGCAGGC others(4): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19043.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0028a0001c0006t0009 | a0001c0002t0028g0010a0001c0006t0009g0074 | 2 | 190 | 0.0105 | 11 | c.963 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117858805 | C | CAGGAAGG others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03453.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0063others(1): Show | a0001c0001t0005g0100a0001c0001t0007g0142a0001c0001t0063g0170others(1): Show | 4 | 190 | 0.0211 | 11 | c.963 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117867260 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0138 | 1 | 190 | 0.0053 | 11 | c.963 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0012a0001c0004t0012 | a0001c0001t0006g0144a0001c0001t0012g0173a0001c0004t0012g0171 | 3 | 190 | 0.0158 | 11 | c.963 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118019280 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 | 1 | 190 | 0.0053 | 11 | c.962 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118041719 | A | AAGGAAGG others(4): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0007a0001c0005t0020 | a0001c0002t0007g0099a0001c0005t0020g0067 | 2 | 190 | 0.0105 | 11 | c.962 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118073632 | A | AGAGAAGA others(4): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 190 | 0.0053 | 11 | c.962 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118090778 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 190 | 0.0053 | 11 | c.962 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47047396 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02451.hp2 HG02647.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0138a0001c0001t0002g0151a0001c0001t0003g0053others(5): Show | 8 | 238 | 0.0336 | 11 | c.416 others(30): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47112862 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG02083.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0087a0001c0001t0002g0043a0001c0001t0002g0057others(14): Show | 17 | 238 | 0.0714 | 11 | c.888 others(30): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47130261 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG01255.hp1 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0020a0001c0001t0001g0102others(12): Show | 15 | 238 | 0.0630 | 11 | c.889 others(30): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47135818 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 238 | 0.0042 | 11 | c.889 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47182628 | T | TCAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 238 | 0.0042 | 11 | c.143 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 14/15 | chr20 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28038439 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0390 | 1 | 392 | 0.0026 | 11 | c.224 others(26): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 5/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084595 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 392 | 0.0026 | 11 | c.-69 others(28): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084595 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03710.hp1 HG04204.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0025 | a0001c0001t0001g0099a0001c0001t0003g0014a0001c0001t0025g0038 | 3 | 392 | 0.0077 | 11 | c.-69 others(28): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084596 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0140a0001c0001t0003g0026a0001c0001t0003g0027others(1): Show | 4 | 392 | 0.0102 | 11 | c.-69 others(28): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133383517 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02074.hp1 HG02717.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0021a0001c0001t0001g0033a0001c0001t0002g0012others(3): Show | 6 | 264 | 0.0227 | 11 | c.83+ others(26): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133428911 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01258.hp1 HG01884.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0037a0002c0002t0003others(4): Show | a0001c0001t0001g0206a0001c0001t0001g0257a0001c0001t0037g0236others(5): Show | 8 | 264 | 0.0303 | 11 | c.84- others(28): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |