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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A3GALT2_chr1_33301766_33326098 | 33319775 | CCAGGCTT others(2551): Show |
C | exon_loss_variant others(3): Show |
HIGH | HG00735.hp1 NA19007.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0056 a0004c0008t0001g0057 |
2 | 416 | 0.0048 | -2558 | c.-12 others(13): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69222531 | A | G | splice_donor_variant others(1): Show |
HIGH | HG01243.hp1 | a0015 | a0015c0029 | a0015c0029t0014 | a0015c0029t0014g0198 | 1 | 346 | 0.0029 | 0 | c.199 others(5): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4/38 | chr17 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48352125 | GTTTGAGC others(10142): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02055.hp1 HG02922.hp1 HG02965.hp1 |
a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 |
3 | 176 | 0.0170 | -10149 | c.103 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/62 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48412584 | G | T | splice_donor_variant others(1): Show |
HIGH | NA18959.hp2 NA18992.hp1 NA18998.hp1 others(1): Show |
a0005a0009a0011others(1): Show | a0005c0007a0009c0017a0011c0031others(1): Show | a0005c0007t0002a0009c0017t0002a0011c0031t0003others(1): Show | a0005c0007t0002g0129 a0009c0017t0002g0052 a0011c0031t0003g0112 others(1): Show |
4 | 176 | 0.0227 | 0 | c.124 others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | chr7 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69083211 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0223 | 1 | 324 | 0.0031 | 0 | c.447 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 35/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69102834 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 324 | 0.0031 | 0 | c.287 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 21/38 | chr17 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20626612 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(67): Show |
a0002a0003a0005others(10): Show | a0002c0003a0003c0002a0003c0010others(13): Show | a0002c0003t0001a0003c0002t0001a0003c0002t0002others(19): Show | a0002c0003t0001g0347 a0003c0002t0001g0119 a0003c0002t0001g0148 others(67): Show |
70 | 358 | 0.1955 | 0 | c.108 others(5): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCC2_chr10_99777640_99857594 | 99818959 | T | C | splice_donor_variant others(1): Show |
HIGH | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 334 | 0.0030 | 0 | c.243 others(6): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 18/31 | chr10 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184189906 | AGTAAACT others(36): Show |
A | splice_donor_variant others(3): Show |
HIGH | NA18961.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0027 | 1 | 414 | 0.0024 | -43 | c.136 others(55): Show |
p.Ser others(19): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 14/21 | 1377/2446 | 1368/2130 | 456/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ABCG8_chr2_43833971_43887988 | 43877689 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01168.hp1 HG01169.hp1 |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0055 a0005c0007t0006g0127 |
2 | 316 | 0.0063 | 0 | c.188 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50881627 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 374 | 0.0027 | 0 | c.486 others(5): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | chr14 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127983049 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00609.hp1 NA18977.hp2 NA19005.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0020a0002c0002t0053 | a0002c0002t0001g0286 a0002c0002t0001g0322 a0002c0002t0020g0308 others(1): Show |
4 | 342 | 0.0117 | 0 | c.92+ others(4): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132618633 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00673.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0291 a0001c0001t0001g0292 others(13): Show |
19 | 314 | 0.0605 | 0 | c.141 others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 11/19 | chr3 | TogoVar | |||||||
ACE_chr17_63472061_63503373 | 63479913 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 372 | 0.0027 | 0 | c.655 others(5): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 4/24 | chr17 | TogoVar | |||||||
ACOXL_chr2_110727573_111123548 | 110995965 | GGTTCTTC others(47): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(8): Show |
a0004a0008 | a0004c0005a0008c0008 | a0004c0005t0001a0004c0005t0002a0004c0005t0005others(2): Show | a0004c0005t0001g0069 a0004c0005t0001g0134 a0004c0005t0002g0003 others(8): Show |
11 | 148 | 0.0743 | -54 | c.124 others(66): Show |
p.Leu others(13): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/18 | 1470/2699 | 1246/1743 | 416/580 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ACP4_chr19_50785415_50800219 | 50794966 | T | G | splice_donor_variant others(1): Show |
HIGH | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 378 | 0.0026 | 0 | c.116 others(6): Show |
ACP4 | ENSG00000142513.6 | transcript | ENST00000270593.2 | protein_coding | 10/10 | chr19 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112426860 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0142 | 1 | 362 | 0.0028 | 0 | c.191 others(6): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 20/20 | chr10 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39706905 | G | T | splice_donor_variant others(1): Show |
HIGH | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 346 | 0.0029 | 0 | c.201 others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 18/19 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39749311 | C | G | splice_donor_variant others(1): Show |
HIGH | HG02922.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0141 |
2 | 328 | 0.0061 | 0 | c.201 others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 18/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39774918 | TACTCTAA others(11035): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02080.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0121 | 1 | 328 | 0.0030 | -11042 | c.891 others(18): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 11/21 | chr8 | TogoVar | |||||||
ADAM8_chr10_133257423_133281868 | 133271804 | A | C | splice_donor_variant others(1): Show |
HIGH | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 384 | 0.0026 | 0 | c.110 others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70734029 | G | A | splice_donor_variant others(1): Show |
HIGH | HG03041.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0220 | 1 | 352 | 0.0028 | 0 | c.135 others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 8/21 | chr10 | TogoVar | |||||||
ADGRD2_chr9_124445451_124483580 | 124451704 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01884.hp1 HG02572.hp1 HG03139.hp2 others(1): Show |
a0001a0005a0031others(1): Show | a0001c0001a0005c0086a0031c0044others(1): Show | a0001c0001t0002a0005c0086t0002a0031c0044t0002others(1): Show | a0001c0001t0002g0051 a0005c0086t0002g0050 a0031c0044t0002g0134 others(1): Show |
4 | 402 | 0.0100 | 0 | c.36+ others(4): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 3/24 | chr9 | TogoVar | |||||||
ADH4_chr4_99118658_99149297 | 99131503 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 336 | 0.0030 | 0 | c.843 others(5): Show |
ADH4 | ENSG00000198099.10 | transcript | ENST00000265512.12 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113431936 | TGAACTCC others(8731): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02083.hp2 | a0014 | a0014c0054 | a0014c0054t0001 | a0014c0054t0001g0091 | 1 | 260 | 0.0038 | -8738 | c.379 others(17): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
AFP_chr4_73431221_73461174 | 73447055 | CGGACACT others(1268): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00642.hp1 NA18955.hp2 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0076 a0005c0008t0002g0083 |
2 | 387 | 0.0052 | -1275 | c.844 others(16): Show |
AFP | ENSG00000081051.8 | transcript | ENST00000395792.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFP_chr4_73431221_73461174 | 73455292 | T | C | splice_donor_variant others(1): Show |
HIGH | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 388 | 0.0026 | 0 | c.*10 others(5): Show |
AFP | ENSG00000081051.8 | transcript | ENST00000395792.7 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AGAP4_chr10_45820594_45852500 | 45834015 | C | T | splice_donor_variant others(1): Show |
HIGH | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 380 | 0.0026 | 0 | c.497 others(5): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
AGAP6_chr10_49983406_50015499 | 50002097 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00639.hp2 HG01109.hp2 HG02630.hp2 others(4): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0004c0026others(1): Show | a0001c0001t0001a0004c0004t0004a0004c0026t0004others(1): Show | a0001c0001t0001g0143 a0004c0004t0004g0121 a0004c0026t0004g0124 others(4): Show |
7 | 404 | 0.0173 | 0 | c.497 others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135497187 | C | A | splice_donor_variant others(1): Show |
HIGH | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0219 | 1 | 218 | 0.0046 | 0 | c.-14 others(6): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 2/28 | chr6 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44288459 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00438.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0188 | 1 | 424 | 0.0024 | 0 | c.652 others(5): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 5/13 | chr21 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4718417 | A | G | splice_donor_variant others(1): Show |
HIGH | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047 | 1 | 460 | 0.0022 | 0 | c.563 others(5): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108823369 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18944.hp2 NA19005.hp1 NA19057.hp2 |
a0001a0005a0011 | a0001c0005a0005c0026a0011c0023 | a0001c0005t0002a0005c0026t0004a0011c0023t0004 | a0001c0005t0002g0310 a0005c0026t0004g0106 a0011c0023t0004g0068 |
3 | 396 | 0.0076 | 0 | c.216 others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 13/15 | chr1 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108825266 | AAGATGAT others(4064): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(29): Show |
a0004a0025 | a0004c0004a0004c0008a0004c0036others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0008t0002others(3): Show | a0004c0004t0001g0020 a0004c0004t0001g0031 a0004c0004t0001g0034 others(23): Show |
32 | 396 | 0.0808 | -4071 | c.183 others(19): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/16 | chr1 | TogoVar | |||||||
AKR1C1_chr10_4958415_4988283 | 4967044 | G | T | splice_donor_variant others(1): Show |
HIGH | NA18985.hp1 | a0004 | a0004c0015 | a0004c0015t0164 | a0004c0015t0164g0064 | 1 | 424 | 0.0024 | 0 | c.369 others(5): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
AKR1C1_chr10_4958415_4988283 | 4967045 | T | A | splice_donor_variant others(1): Show |
HIGH | NA18985.hp1 | a0004 | a0004c0015 | a0004c0015t0164 | a0004c0015t0164g0064 | 1 | 424 | 0.0024 | 0 | c.369 others(5): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
AKR1D1_chr7_138071459_138123305 | 138106718 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0069 | 1 | 424 | 0.0024 | 0 | c.689 others(5): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
ALDH1L1_chr3_126098570_126185586 | 126155400 | A | T | splice_donor_variant others(1): Show |
HIGH | NA18995.hp1 | a0026 | a0026c0025 | a0026c0025t0001 | a0026c0025t0001g0151 | 1 | 336 | 0.0030 | 0 | c.630 others(5): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show |
372 | 388 | 0.9588 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ALDOC_chr17_28568120_28581895 | 28575419 | A | G | splice_donor_variant others(1): Show |
HIGH | NA18989.hp2 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0012 | 1 | 350 | 0.0029 | 0 | c.112 others(5): Show |
ALDOC | ENSG00000109107.14 | transcript | ENST00000226253.9 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45412314 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0149 | 1 | 344 | 0.0029 | 0 | c.554 others(5): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 4/13 | chr10 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8118485 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 420 | 0.0024 | 0 | c.-31 others(6): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
AMH_chr19_2244323_2257073 | 2249743 | A | AGGGGGGG others(4): Show |
splice_donor_variant others(1): Show |
HIGH | NA19012.hp2 | a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0007 | 1 | 430 | 0.0023 | 11 | c.412 others(22): Show |
AMH | ENSG00000104899.8 | transcript | ENST00000221496.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178869106 | ATACTTAC others(30): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0292 | 1 | 422 | 0.0024 | -37 | c.-56 others(46): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 2/6 | 3331 | chr1 | TogoVar | ||||||
ANGPTL6_chr19_10087338_10107678 | 10101606 | AAGACCAG others(2278): Show |
A | splice_donor_variant others(4): Show |
HIGH | HG00099.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 a0001c0001t0003g0134 |
2 | 460 | 0.0043 | -2285 | c.-13 others(13): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
ANKRD13D_chr11_67284303_67307484 | 67301149 | T | G | splice_donor_variant others(1): Show |
HIGH | HG02132.hp2 | a0004 | a0004c0016 | a0004c0016t0001 | a0004c0016t0001g0136 | 1 | 332 | 0.0030 | 0 | c.123 others(6): Show |
ANKRD13D | ENSG00000172932.16 | transcript | ENST00000511455.7 | protein_coding | 11/14 | chr11 | TogoVar | |||||||
ANKRD27_chr19_32592006_32680180 | 32643571 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18950.hp1 NA19070.hp1 |
a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0106 a0002c0012t0002g0107 |
2 | 346 | 0.0058 | 0 | c.585 others(5): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 6/28 | chr19 | TogoVar | |||||||
ANKRD30A_chr10_37120598_37237567 | 37177714 | GCGCATCA others(11794): Show |
G | exon_loss_variant others(4): Show |
HIGH | NA18983.hp2 | a0031 | a0031c0018 | a0031c0018t0001 | a0031c0018t0001g0095 | 1 | 198 | 0.0051 | -11801 | c.242 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37189558 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp1 HG02698.hp2 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0142 a0001c0012t0001g0193 |
2 | 284 | 0.0070 | 0 | c.251 others(6): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/35 | chr10 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97147001 | TTAAACCA others(3856): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA19056.hp2 | a0033 | a0033c0025 | a0033c0025t0001 | a0033c0025t0001g0123 | 1 | 210 | 0.0048 | -3863 | c.103 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 12/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |