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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVI2A_chr17_31311410_31326622 | 31322501 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02809.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0023a0003c0003t0002 | a0001c0001t0002g0001a0001c0001t0023g0028a0003c0003t0002g0029 | 6 | 378 | 0.0159 | -15 | c.-10 others(26): Show |
EVI2A | ENSG00000126860.12 | transcript | ENST00000462804.3 | protein_coding | 880 | chr17 | TogoVar | ||||||
EVI2B_chr17_31298770_31319054 | 31309929 | TAGGATCT others(8): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 372 | 0.0027 | -15 | c.-22 others(32): Show |
EVI2B | ENSG00000185862.7 | transcript | ENST00000330927.5 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
EVI5L_chr19_7825218_7869976 | 7830653 | CCCCGTCC others(8): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 | 1 | 396 | 0.0025 | -15 | c.-48 others(30): Show |
EVI5L | ENSG00000142459.9 | transcript | ENST00000538904.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EVI5L_chr19_7825218_7869976 | 7831225 | AAACACAC others(8): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 396 | 0.0025 | -15 | c.-48 others(30): Show |
EVI5L | ENSG00000142459.9 | transcript | ENST00000538904.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EVI5_chr1_92503696_92790108 | 92508163 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 168 | 0.0060 | -15 | c.*54 others(26): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 532 | chr1 | TogoVar | ||||||
EVI5_chr1_92503696_92790108 | 92550770 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0135 | 1 | 168 | 0.0060 | -15 | c.216 others(36): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 19/19 | chr1 | TogoVar | ||||||
EVI5_chr1_92503696_92790108 | 92612711 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 168 | 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(123): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0043a0001c0001t0001g0047a0001c0001t0001g0059others(123): Show | 126 | 168 | 0.7500 | -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 | a0001c0001t0001g0057a0001c0001t0001g0063a0001c0001t0001g0068others(26): Show | 30 | 354 | 0.0848 | -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 |
a0010a0011 | a0010c0013a0011c0019a0011c0044 | a0010c0013t0001a0011c0019t0001a0011c0044t0001 | a0010c0013t0001g0017a0011c0019t0001g0222a0011c0019t0001g0227others(1): Show | 6 | 404 | 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 | a0028 | a0028c0041 | a0028c0041t0001 | a0028c0041t0001g0155 | 1 | 404 | 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 | 404 | 0.0025 | -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 | a0001c0001t0002g0084 | 1 | 234 | 0.0043 | -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 | a0001c0001t0006g0217 | 1 | 234 | 0.0043 | -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 | a0002c0002t0001g0212a0002c0002t0004g0189 | 2 | 234 | 0.0086 | -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 | a0002c0041t0014g0246a0003c0003t0003g0006a0003c0003t0003g0020others(49): Show | 60 | 416 | 0.1442 | -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 | a0001c0001t0001g0098 | 1 | 376 | 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(86): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0021others(86): Show | 89 | 272 | 0.3272 | -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 |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0063a0001c0001t0001g0077a0001c0001t0001g0080others(48): Show | 51 | 272 | 0.1875 | -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 | 272 | 0.0037 | -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 | 272 | 0.0037 | -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 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0026 | 1 | 356 | 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 |
a0000a0001a0003others(10): Show | a0000c0043a0001c0020a0003c0001others(15): Show | a0000c0043t0005a0001c0020t0002a0003c0001t0001others(18): Show | a0000c0043t0005g0180a0001c0020t0002g0182a0003c0001t0001g0016others(83): Show | 88 | 404 | 0.2178 | -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 | a0043 | a0043c0067 | a0043c0067t0001 | a0043c0067t0001g0016 | 1 | 404 | 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 |
a0002a0004 | a0002c0006a0004c0010 | a0002c0006t0001a0002c0006t0002a0004c0010t0001 | a0002c0006t0001g0285a0002c0006t0002g0255a0002c0006t0002g0288others(1): Show | 4 | 404 | 0.0099 | -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 | a0001c0001t0001g0054a0001c0001t0001g0120a0001c0001t0001g0130others(1): Show | 5 | 418 | 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 | a0001c0001t0001g0001a0001c0001t0001g0110a0001c0001t0001g0160others(1): Show | 5 | 418 | 0.0120 | -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 | a0001c0001t0005a0001c0002t0005a0001c0006t0005others(1): Show | a0001c0001t0005g0001a0001c0001t0005g0044a0001c0002t0005g0006others(11): Show | 23 | 418 | 0.0550 | -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 | a0001c0001t0001g0061a0001c0002t0001g0102 | 2 | 102 | 0.0196 | -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 | a0001c0001t0001g0075a0001c0001t0001g0077a0001c0004t0001g0062others(1): Show | 4 | 102 | 0.0392 | -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 | a0001c0001t0001g0066a0001c0001t0001g0068 | 2 | 102 | 0.0196 | -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 | a0001c0001t0003g0004a0001c0001t0003g0070a0001c0001t0009g0001others(3): Show | 6 | 102 | 0.0588 | -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 | a0001c0003t0001g0006 | 1 | 102 | 0.0098 | -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 | 102 | 0.0098 | -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(72): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0026a0001c0001t0002g0027a0001c0001t0002g0030others(72): Show | 75 | 104 | 0.7212 | -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 | a0001c0001t0002g0048 | 1 | 104 | 0.0096 | -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 | a0001c0001t0001g0026 | 1 | 104 | 0.0096 | -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 | 288 | 0.0035 | -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 | a0001c0001t0001g0048a0001c0001t0010g0250 | 2 | 288 | 0.0069 | -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 | 288 | 0.0035 | -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 | a0001c0001t0001g0135 | 1 | 288 | 0.0035 | -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 | a0001c0002t0008g0271 | 1 | 366 | 0.0027 | -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 | 432 | 0.0023 | -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 |
a0022 | a0022c0018 | a0022c0018t0019 | a0022c0018t0019g0022a0022c0018t0019g0023 | 2 | 314 | 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 | a0001c0001t0002g0115a0001c0001t0002g0136 | 2 | 314 | 0.0064 | -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 | a0002c0028t0033g0177 | 1 | 314 | 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 | a0001c0001t0016g0076 | 1 | 190 | 0.0053 | -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 | a0001c0002t0002g0103a0001c0002t0003g0064a0001c0002t0007g0121others(8): Show | 11 | 190 | 0.0579 | -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 | a0001c0002t0022g0122 | 1 | 190 | 0.0053 | -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 | a0001c0001t0009g0088a0001c0001t0015g0089a0001c0001t0034g0016others(2): Show | 5 | 190 | 0.0263 | -15 | c.962 others(34): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar |