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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP9_chr7_91935862_92115673 | 92083164 | T | A | splice_region_variant others(1): Show |
LOW | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 304 | 0.0033 | 0 | c.816 others(6): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 32/49 | chr7 | TogoVar | |||||||
AKAP9_chr7_91935862_92115673 | 92084811 | T | C | splice_region_variant others(1): Show |
LOW | HG02896.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0205 | 1 | 304 | 0.0033 | 0 | c.871 others(6): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 34/49 | chr7 | TogoVar | |||||||
AKIP1_chr11_8906189_8925079 | 8914934 | A | G | splice_region_variant others(1): Show |
LOW | HG02258.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0148 | 1 | 418 | 0.0024 | 0 | c.408 others(5): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
AKIRIN1_chr1_38986276_39011059 | 38991608 | G | C | splice_region_variant others(1): Show |
LOW | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0067 | 1 | 424 | 0.0024 | 0 | c.220 others(5): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
AKIRIN1_chr1_38986276_39011059 | 39001114 | C | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(8): Show | a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0016 others(35): Show |
78 | 424 | 0.1840 | 0 | c.496 others(5): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
AKIRIN2_chr6_87669860_87707233 | 87675861 | G | A | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG02258.hp1 HG02486.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0007 | a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0053 others(10): Show |
13 | 404 | 0.0322 | 0 | c.600 others(3): Show |
p.Ser others(6): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 4/5 | 1149/1898 | 600/612 | 200/203 | chr6 | TogoVar | |||
AKNAD1_chr1_108810901_108862094 | 108816306 | C | T | splice_region_variant others(1): Show |
LOW | HG03139.hp2 NA20300.hp2 |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0003c0003t0001 | a0001c0002t0001g0201 a0003c0003t0001g0119 |
2 | 396 | 0.0051 | 0 | c.238 others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 15/15 | chr1 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108817181 | G | T | splice_region_variant others(1): Show |
LOW | HG01943.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0298 | 1 | 396 | 0.0025 | 0 | c.225 others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 14/15 | chr1 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108823362 | G | T | splice_region_variant others(1): Show |
LOW | 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 | |||||||
AKNAD1_chr1_108810901_108862094 | 108834448 | C | A | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00408.hp2 HG00642.hp1 others(62): Show |
a0002a0006a0010others(4): Show | a0002c0007a0002c0009a0002c0010others(13): Show | a0002c0007t0001a0002c0009t0003a0002c0009t0004others(16): Show | a0002c0007t0001g0154 a0002c0007t0001g0155 a0002c0007t0001g0167 others(55): Show |
65 | 396 | 0.1641 | 0 | c.174 others(4): Show |
p.Gly others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 9/16 | 2014/3050 | 1745/2511 | 582/836 | chr1 | TogoVar | |||
AKNAD1_chr1_108810901_108862094 | 108834535 | T | TA | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00408.hp2 HG00642.hp1 others(61): Show |
a0002a0006a0010others(4): Show | a0002c0007a0002c0009a0002c0010others(13): Show | a0002c0007t0001a0002c0009t0003a0002c0009t0004others(16): Show | a0002c0007t0001g0154 a0002c0007t0001g0155 a0002c0007t0001g0167 others(54): Show |
64 | 122 | 0.5246 | 1 | c.166 others(7): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108834535 | TA | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(269): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0002a0001c0005others(35): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(51): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(225): Show |
272 | 330 | 0.8242 | -1 | c.166 others(7): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108843128 | T | C | splice_region_variant others(1): Show |
LOW | HG03041.hp2 HG03579.hp1 HG03654.hp2 others(1): Show |
a0001a0020a0021 | a0001c0001a0001c0002a0020c0035others(1): Show | a0001c0001t0003a0001c0002t0001a0020c0035t0003others(1): Show | a0001c0001t0003g0096 a0001c0002t0001g0325 a0020c0035t0003g0080 others(1): Show |
4 | 396 | 0.0101 | 0 | c.137 others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 6/15 | chr1 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108843275 | G | A | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG02622.hp2 |
a0002a0017 | a0002c0007a0017c0059 | a0002c0007t0001a0017c0059t0003 | a0002c0007t0001g0199 a0017c0059t0003g0063 |
2 | 396 | 0.0051 | 0 | c.124 others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108856921 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG01243.hp1 HG01884.hp1 others(6): Show |
a0006a0009 | a0006c0019a0009c0014 | a0006c0019t0005a0009c0014t0005a0009c0014t0008 | a0006c0019t0005g0040 a0006c0019t0005g0041 a0006c0019t0005g0042 others(6): Show |
9 | 396 | 0.0227 | 0 | c.-10 others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
AKNA_chr9_114329156_114392982 | 114347900 | G | A | splice_region_variant others(1): Show |
LOW | HG02132.hp1 HG02257.hp2 HG02258.hp2 others(19): Show |
a0003a0016 | a0003c0006a0003c0011a0016c0016 | a0003c0006t0001a0003c0006t0010a0003c0006t0015others(7): Show | a0003c0006t0001g0018 a0003c0006t0010g0094 a0003c0006t0010g0237 others(18): Show |
22 | 386 | 0.0570 | 0 | c.322 others(4): Show |
p.Asp others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 16/22 | 3458/7454 | 3222/4320 | 1074/1439 | chr9 | TogoVar | |||
AKNA_chr9_114329156_114392982 | 114359798 | C | T | splice_region_variant others(1): Show |
LOW | HG02083.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0068 | 1 | 386 | 0.0026 | 0 | c.229 others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 10/21 | chr9 | TogoVar | |||||||
AKNA_chr9_114329156_114392982 | 114362399 | C | CA | splice_region_variant others(1): Show |
LOW | HG02698.hp1 HG03490.hp2 HG03492.hp2 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0001a0003c0006t0010 | a0003c0006t0001g0018 a0003c0006t0010g0094 a0003c0006t0010g0237 |
4 | 386 | 0.0104 | 1 | c.191 others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45561790 | G | A | splice_region_variant | LOW | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 350 | 0.0029 | 0 | c.-5G others(2): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45566871 | G | A | splice_region_variant others(1): Show |
LOW | HG02109.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0002 | 1 | 350 | 0.0029 | 0 | c.207 others(3): Show |
p.Ala others(5): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 4/9 | 543/1407 | 207/978 | 69/325 | chr1 | TogoVar | |||
AKR1A1_chr1_45545826_45575049 | 45569228 | C | T | missense_variant others(1): Show |
MODERATE | NA19074.hp1 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0130 | 1 | 350 | 0.0029 | 0 | c.911 others(3): Show |
p.Thr others(6): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 8/9 | 1247/1407 | 911/978 | 304/325 | chr1 | TogoVar | |||
AKR1B10_chr7_134522567_134546412 | 134530644 | C | T | missense_variant others(1): Show |
MODERATE | NA19075.hp2 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0001 | 1 | 446 | 0.0022 | 0 | c.68C others(2): Show |
p.Ser others(5): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 2/10 | 413/1619 | 68/951 | 23/316 | chr7 | TogoVar | |||
AKR1B10_chr7_134522567_134546412 | 134537576 | C | G | splice_region_variant others(1): Show |
LOW | HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0056 | 2 | 446 | 0.0045 | 0 | c.660 others(5): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
AKR1B10_chr7_134522567_134546412 | 134537661 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp1 HG02622.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0034 a0001c0008t0001g0062 a0001c0008t0001g0063 |
4 | 446 | 0.0090 | 0 | c.741 others(3): Show |
p.Gln others(6): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 7/10 | 1086/1619 | 741/951 | 247/316 | chr7 | TogoVar | |||
AKR1B10_chr7_134522567_134546412 | 134539017 | A | G | missense_variant others(1): Show |
MODERATE | HG02165.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0001 | 1 | 446 | 0.0022 | 0 | c.908 others(3): Show |
p.Gln others(6): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 9/10 | 1253/1619 | 908/951 | 303/316 | chr7 | TogoVar | |||
AKR1B15_chr7_134544110_134584869 | 134556863 | G | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(66): Show |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(33): Show |
69 | 402 | 0.1716 | 0 | c.-23 others(5): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
AKR1B15_chr7_134544110_134584869 | 134571685 | G | A | splice_region_variant others(1): Show |
LOW | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 402 | 0.0025 | 0 | c.513 others(5): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 6/11 | chr7 | TogoVar | |||||||
AKR1B15_chr7_134544110_134584869 | 134575934 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp2 HG00673.hp2 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0033 a0001c0001t0002g0079 a0001c0001t0005g0033 |
3 | 402 | 0.0075 | 0 | c.743 others(5): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 8/11 | chr7 | TogoVar | |||||||
AKR1B15_chr7_134544110_134584869 | 134576345 | C | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(197): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(122): Show |
200 | 402 | 0.4975 | 0 | c.744 others(5): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 8/11 | chr7 | TogoVar | |||||||
AKR1B15_chr7_134544110_134584869 | 134576433 | A | G | splice_region_variant others(1): Show |
LOW | HG01099.hp2 HG01891.hp2 HG02055.hp1 others(3): Show |
a0001a0009 | a0001c0004a0009c0007 | a0001c0004t0001a0009c0007t0001 | a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0092 others(2): Show |
6 | 402 | 0.0149 | 0 | c.825 others(5): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
AKR1B1_chr7_134437356_134464100 | 134449714 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 444 | 0.0023 | 0 | c.429 others(5): Show |
AKR1B1 | ENSG00000085662.14 | transcript | ENST00000285930.9 | protein_coding | 4/9 | chr7 | TogoVar | |||||||
AKR1B1_chr7_134437356_134464100 | 134449722 | C | T | missense_variant others(1): Show |
MODERATE | HG01981.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0141 | 1 | 444 | 0.0023 | 0 | c.427 others(3): Show |
p.Ala others(6): Show |
AKR1B1 | ENSG00000085662.14 | transcript | ENST00000285930.9 | protein_coding | 4/10 | 465/1361 | 427/951 | 143/316 | chr7 | TogoVar | |||
AKR1C1_chr10_4958415_4988283 | 4967043 | G | T | missense_variant others(1): Show |
MODERATE | NA18985.hp1 | a0004 | a0004c0015 | a0004c0015t0164 | a0004c0015t0164g0064 | 1 | 424 | 0.0024 | 0 | c.369 others(3): Show |
p.Lys others(6): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 3/9 | 399/6543 | 369/972 | 123/323 | chr10 | TogoVar | |||
AKR1C1_chr10_4958415_4988283 | 4967047 | G | A | splice_region_variant others(1): Show |
LOW | 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 | 4967048 | G | A | splice_region_variant others(1): Show |
LOW | 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 | 4967049 | C | A | splice_region_variant others(1): Show |
LOW | 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 | 4967051 | G | A | splice_region_variant others(1): Show |
LOW | 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 | 4968814 | T | G | splice_region_variant others(1): Show |
LOW | HG01255.hp2 HG02738.hp2 HG03017.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0114a0001c0001t0115 | a0001c0001t0039g0032 a0001c0001t0114g0072 a0001c0001t0115g0071 |
4 | 424 | 0.0094 | 0 | c.448 others(5): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 4/8 | chr10 | TogoVar | |||||||
AKR1C1_chr10_4958415_4988283 | 4975940 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(307): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(117): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(163): Show |
310 | 424 | 0.7311 | 0 | c.929 others(5): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
AKR1C2_chr10_4982775_5008857 | 4991824 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(153): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(55): Show |
156 | 410 | 0.3805 | 0 | c.929 others(5): Show |
AKR1C2 | ENSG00000151632.18 | transcript | ENST00000380753.9 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
AKR1C3_chr10_5089414_5112686 | 5102482 | C | T | splice_region_variant others(1): Show |
LOW | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 436 | 0.0023 | 0 | c.681 others(5): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
AKR1C3_chr10_5089414_5112686 | 5107457 | T | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0011a0004c0005 | a0001c0001t0001a0002c0011t0001a0004c0005t0001 | a0001c0001t0001g0108 a0002c0011t0001g0009 a0004c0005t0001g0009 others(2): Show |
17 | 436 | 0.0390 | 0 | c.930 others(5): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
AKR1C4_chr10_5191837_5223949 | 5218719 | C | G | missense_variant others(1): Show |
MODERATE | HG00408.hp2 HG01069.hp2 HG01070.hp2 others(46): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0003a0002c0005t0002 | a0002c0002t0002g0005 a0002c0002t0002g0016 a0002c0002t0002g0026 others(20): Show |
49 | 432 | 0.1134 | 0 | c.931 others(3): Show |
p.Leu others(6): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 9/9 | 962/1192 | 931/972 | 311/323 | chr10 | TogoVar | |||
AKR1C8_chr10_5148920_5190150 | 5157799 | C | T | missense_variant others(1): Show |
MODERATE | HG02109.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0159 | 1 | 406 | 0.0025 | 0 | c.691 others(3): Show |
p.Val others(6): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 7/9 | 737/1247 | 691/981 | 231/326 | chr10 | TogoVar | |||
AKR1C8_chr10_5148920_5190150 | 5159877 | G | A | splice_region_variant others(1): Show |
LOW | HG01069.hp1 HG01071.hp1 HG03927.hp1 |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0029 a0003c0006t0002g0064 |
3 | 406 | 0.0074 | 0 | c.579 others(5): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 5/8 | chr10 | TogoVar | |||||||
AKR1C8_chr10_5148920_5190150 | 5159943 | GTGATTGA others(229): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0002a0003c0006t0002 | a0003c0004t0002g0005 a0003c0004t0002g0009 a0003c0004t0002g0010 others(27): Show |
43 | 406 | 0.1059 | -236 | c.457 others(11): Show |
p.Ala others(5): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 5/9 | 564/1247 | 457/981 | 153/326 | chr10 | TogoVar | |||
AKR1C8_chr10_5148920_5190150 | 5163019 | G | C | missense_variant others(1): Show |
MODERATE | HG03209.hp1 | a0010 | a0010c0015 | a0010c0015t0003 | a0010c0015t0003g0068 | 1 | 406 | 0.0025 | 0 | c.95C others(2): Show |
p.Thr others(5): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 2/9 | 141/1247 | 95/981 | 32/326 | chr10 | TogoVar | |||
AKR1D1_chr7_138071459_138123305 | 138097847 | CT | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(342): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(291): Show |
345 | 360 | 0.9583 | -1 | c.379 others(6): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138097847 | CTT | C | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00621.hp2 HG00741.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0141 a0001c0001t0001g0318 a0001c0001t0002g0011 others(55): Show |
61 | 76 | 0.8026 | -2 | c.379 others(13): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |