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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVI5_chr1_92503696_92790108 | 92612711 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 166 | 0.0060 | -15 | c.182 others(34): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 16/19 | chr1 | TogoVar | |||||||
EVI5_chr1_92503696_92790108 | 92614856 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0044 others(121): Show |
125 | 135 | 0.9259 | -15 | c.182 others(34): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 16/19 | chr1 | TogoVar | |||||||
EVL_chr14_100060422_100149236 | 100143651 | GGGCTGCA others(8): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01358.hp1 HG01884.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0068 others(26): Show |
30 | 352 | 0.0852 | -15 | c.122 others(30): Show |
EVL | ENSG00000196405.13 | transcript | ENST00000392920.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EVPL_chr17_76001845_76032306 | 76019747 | GCAGCTAA others(8): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG02965.hp1 others(3): Show |
a0010a0012 | a0010c0019a0010c0044a0012c0013 | a0010c0019t0001a0010c0044t0001a0012c0013t0001 | a0010c0019t0001g0222 a0010c0019t0001g0227 a0010c0044t0001g0172 others(1): Show |
6 | 402 | 0.0149 | -15 | c.101 others(31): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 9/21 | chr17 | TogoVar | |||||||
EVPL_chr17_76001845_76032306 | 76031246 | AAAAAAAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0025 | a0025c0041 | a0025c0041t0001 | a0025c0041t0001g0155 | 1 | 401 | 0.0025 | -15 | c.-40 others(26): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 3941 | chr17 | TogoVar | |||||||
EVPL_chr17_76001845_76032306 | 76031248 | AAAAAAAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 373 | 0.0027 | -15 | c.-40 others(26): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 3943 | chr17 | TogoVar | |||||||
EXD2_chr14_69186498_69249018 | 69201672 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 65 | 0.0154 | -15 | c.-13 others(34): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXD2_chr14_69186498_69249018 | 69206455 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0211 | 1 | 38 | 0.0263 | -15 | c.-48 others(32): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXD2_chr14_69186498_69249018 | 69220253 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG03139.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0206 a0002c0002t0004g0187 |
2 | 30 | 0.0667 | -15 | c.334 others(32): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXO1_chr1_241843204_241894939 | 241893783 | GCATCAAT others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00738.hp1 others(57): Show |
a0002a0003a0005others(14): Show | a0002c0041a0003c0003a0005c0005others(14): Show | a0002c0041t0014a0003c0003t0003a0003c0003t0008others(20): Show | a0002c0041t0014g0244 a0003c0003t0003g0006 a0003c0003t0003g0021 others(49): Show |
60 | 414 | 0.1449 | -15 | c.*41 others(26): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 3845 | chr1 | TogoVar | |||||||
EXOC1_chr4_55848648_55910086 | 55897651 | TGTTGCCC others(8): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 374 | 0.0027 | -15 | c.213 others(32): Show |
EXOC1 | ENSG00000090989.18 | transcript | ENST00000381295.7 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501599 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(85): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0021 others(85): Show |
88 | 270 | 0.3259 | -15 | c.238 others(34): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 518263 | GGAGCCCA others(8): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp1 others(48): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0080 others(48): Show |
51 | 270 | 0.1889 | -15 | c.238 others(36): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 654803 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 7 | 0.1429 | -15 | c.-43 others(34): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 673252 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0019 | 1 | 10 | 0.1000 | -15 | c.-44 others(34): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC3L2_chr19_45207370_45250407 | 45222783 | AAGACCGT others(8): Show |
A | intron_variant | MODIFIER | NA18975.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0027 | 1 | 354 | 0.0028 | -15 | c.171 others(34): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
EXOC3L4_chr14_103089725_103115559 | 103095493 | GGAGGGGC others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(85): Show |
a0001a0002a0004others(10): Show | a0001c0020a0002c0001a0002c0066others(15): Show | a0001c0020t0002a0002c0001t0001a0002c0001t0002others(18): Show | a0001c0020t0002g0260 a0002c0001t0001g0008 a0002c0001t0001g0010 others(72): Show |
88 | 402 | 0.2189 | -15 | c.-17 others(30): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
EXOC3L4_chr14_103089725_103115559 | 103102455 | CTGGGAGG others(8): Show |
C | conservative_inframe_deletion | MODERATE | NA18972.hp2 | a0039 | a0039c0067 | a0039c0067t0001 | a0039c0067t0001g0037 | 1 | 402 | 0.0025 | -15 | c.733 others(22): Show |
p.Trp others(13): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 3/12 | 865/2637 | 733/2169 | 245/722 | chr14 | TogoVar | |||
EXOC3L4_chr14_103089725_103115559 | 103109725 | CTCTCTCC others(8): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02970.hp2 NA18962.hp1 others(1): Show |
a0003a0004 | a0003c0006a0004c0010 | a0003c0006t0001a0003c0006t0002a0004c0010t0001 | a0003c0006t0001g0169 a0003c0006t0002g0148 a0003c0006t0002g0171 others(1): Show |
4 | 402 | 0.0100 | -15 | c.197 others(32): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC3_chr5_438176_472290 | 441431 | GCCCATCT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02809.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0121 a0001c0001t0001g0131 others(1): Show |
5 | 416 | 0.0120 | -15 | c.-19 others(26): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1744 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 441497 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18940.hp1 NA18950.hp1 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0001t0001g0161 others(1): Show |
5 | 31 | 0.1613 | -15 | c.-18 others(26): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 443229 | GGGCGGCG others(8): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01952.hp2 HG02056.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0002t0001g0006 others(11): Show |
23 | 100 | 0.2300 | -15 | c.-83 others(22): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/13 | 2928 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133380239 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0061 a0001c0002t0001g0102 |
2 | 14 | 0.1429 | -15 | c.118 others(34): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133558189 | CTCTTTTC others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp1 NA18983.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001a0001c0004t0002 | a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0004t0001g0062 others(1): Show |
4 | 43 | 0.0930 | -15 | c.141 others(36): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133735219 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19010.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0068 |
2 | 5 | 0.4000 | -15 | c.151 others(36): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133810591 | CTTTGCTT others(8): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01261.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0003a0001c0001t0009a0001c0004t0004others(2): Show | a0001c0001t0003g0004 a0001c0001t0003g0070 a0001c0001t0009g0001 others(3): Show |
6 | 75 | 0.0800 | -15 | c.151 others(34): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133810596 | CTTTATTT others(8): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 51 | 0.0196 | -15 | c.151 others(34): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 134069207 | TCTTCTTC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0008 | a0001c0008t0015 | a0001c0008t0015g0078 | 1 | 100 | 0.0100 | -15 | c.*46 others(26): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 3447 | chr7 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72313164 | TACACAGA others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00735.hp1 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0058 a0001c0001t0002g0009 a0001c0001t0002g0010 others(71): Show |
74 | 102 | 0.7255 | -15 | c.219 others(36): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72496948 | CATTATTA others(8): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 13 | 0.0769 | -15 | c.133 others(32): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72823471 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 102 | 0.0098 | -15 | c.113 others(32): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
EXOC6_chr10_92843520_93064490 | 92860265 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 53 | 0.0189 | -15 | c.101 others(34): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896177 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG02622.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0047 a0001c0001t0010g0250 |
2 | 248 | 0.0081 | -15 | c.412 others(32): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896179 | ATATTTTT others(8): Show |
A | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 238 | 0.0042 | -15 | c.412 others(32): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896181 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 134 | 0.0075 | -15 | c.412 others(32): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76097703 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0268 | 1 | 103 | 0.0097 | -15 | c.640 others(28): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 5/18 | chr17 | TogoVar | |||||||
EXOSC3_chr9_37774714_37790064 | 37777194 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 68 | 0.0147 | -15 | c.*34 others(26): Show |
EXOSC3 | ENSG00000107371.14 | transcript | ENST00000327304.10 | protein_coding | 2519 | chr9 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108517636 | ACAAGGTT others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03209.hp2 |
a0021 | a0021c0018 | a0021c0018t0019 | a0021c0018t0019g0022 a0021c0018t0019g0031 |
2 | 312 | 0.0064 | -15 | c.631 others(30): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 5/5 | chr11 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108532354 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02698.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 a0001c0001t0002g0135 |
2 | 301 | 0.0066 | -15 | c.444 others(32): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108596960 | GTAATCCT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0028 | a0002c0028t0033 | a0002c0028t0033g0173 | 1 | 312 | 0.0032 | -15 | c.-34 others(26): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3193 | chr11 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117827784 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0075 | 1 | 70 | 0.0143 | -15 | c.128 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 4/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117973800 | AGAAAGGA others(8): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0002t0002g0103 a0001c0002t0003g0063 a0001c0002t0007g0119 others(8): Show |
11 | 109 | 0.1009 | -15 | c.962 others(36): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118022326 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0120 | 1 | 61 | 0.0164 | -15 | c.962 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118073627 | AGAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008a0001c0013 | a0001c0001t0009a0001c0001t0015a0001c0001t0034others(2): Show | a0001c0001t0009g0083 a0001c0001t0015g0084 a0001c0001t0034g0016 others(2): Show |
5 | 188 | 0.0266 | -15 | c.962 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118073632 | AAGAAGAG others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01496.hp2 HG02257.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0016a0001c0001t0031others(8): Show | a0001c0001t0008g0102 a0001c0001t0016g0075 a0001c0001t0031g0006 others(8): Show |
11 | 87 | 0.1264 | -15 | c.962 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118090778 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0119 | 1 | 22 | 0.0455 | -15 | c.962 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXTL1_chr1_26016775_26041464 | 26037494 | AAGGTGCT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02280.hp2 HG02559.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0015 a0002c0003t0008g0045 |
6 | 370 | 0.0162 | -15 | c.*21 others(26): Show |
EXTL1 | ENSG00000158008.10 | transcript | ENST00000374280.4 | protein_coding | 1031 | chr1 | TogoVar | |||||||
EXTL3_chr8_28696501_28760599 | 28723747 | TTCTTGTA others(8): Show |
T | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 378 | 0.0026 | -15 | c.214 others(34): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47166393 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 18 | 0.0556 | -15 | c.979 others(32): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 27971599 | CAACAACA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 |
3 | 243 | 0.0123 | -15 | c.*28 others(26): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 18/18 | 2852 | chr1 | TogoVar |