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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1CF_chr10_50794409_50890627 | 50864082 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG02451.hp2 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0053 | 1 | 336 | 0.0030 | 0 | c.-93 others(5): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8857942 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG01928.hp2 HG02080.hp2 others(10): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0005t0002others(1): Show | a0001c0001t0002g0177 a0001c0001t0002g0288 a0001c0002t0002g0159 others(10): Show |
13 | 366 | 0.0355 | 1 | c.310 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 25/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9093580 | CTATGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0013a0014 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(38): Show |
50 | 330 | 0.1515 | -5 | c.212 others(18): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69154010 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA18963.hp2 NA19001.hp1 NA19078.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0127 |
3 | 346 | 0.0087 | 0 | c.378 others(6): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 31/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69174778 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 346 | 0.0029 | 0 | c.287 others(6): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 23/38 | 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 | ||||||
ABCA8_chr17_68862289_68960392 | 68876704 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 272 | 0.0037 | 0 | c.420 others(6): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 33/39 | chr17 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48170219 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 |
2 | 156 | 0.0128 | 0 | c.377 others(6): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 27/29 | chr16 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100833158 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG02486.hp2 HG02922.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0007a0003c0003t0007 | a0002c0002t0007g0155 a0003c0003t0007g0150 |
2 | 236 | 0.0085 | 0 | c.228 others(6): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 29/67 | chr3 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8029777 | C | A | splice_acceptor_variant others(1): Show |
HIGH | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0246 | 1 | 320 | 0.0031 | 0 | c.104 others(6): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 10/20 | chr4 | TogoVar | |||||||
ACBD7_chr10_15070475_15093776 | 15078605 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0145 |
2 | 424 | 0.0047 | 0 | c.194 others(5): Show |
ACBD7 | ENSG00000176244.7 | transcript | ENST00000356189.6 | protein_coding | 3/3 | chr10 | TogoVar | |||||||
ACD_chr16_67652512_67665260 | 67660047 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 266 | 0.0038 | 0 | c.100 others(5): Show |
ACD | ENSG00000102977.18 | transcript | ENST00000620761.6 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
ACOT13_chr6_24662077_24710046 | 24701457 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 400 | 0.0025 | 0 | c.267 others(5): Show |
ACOT13 | ENSG00000112304.11 | transcript | ENST00000230048.5 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6183037 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp1 HG02723.hp1 |
a0002a0015 | a0002c0002a0015c0021 | a0002c0002t0001a0015c0021t0001 | a0002c0002t0001g0103 a0015c0021t0001g0101 |
2 | 260 | 0.0077 | 0 | c.108 others(6): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20460105 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 434 | 0.0023 | 0 | c.-8- others(4): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20480572 | G | T | splice_acceptor_variant others(1): Show |
HIGH | NA19062.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0280 | 1 | 434 | 0.0023 | 0 | c.128 others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67645888 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 394 | 0.0025 | 0 | c.237 others(5): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17188382 | CTTGGCGG others(246): Show |
C | frameshift_variant others(3): Show |
HIGH | HG02486.hp1 | a0003 | a0003c0011 | a0003c0011t0045 | a0003c0011t0045g0337 | 1 | 406 | 0.0025 | -253 | c.973 others(12): Show |
p.Val others(5): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/10 | 1163/4355 | 973/1536 | 325/511 | chr22 | TogoVar | |||
ADAM11_chr17_44753988_44786846 | 44777694 | G | A | splice_acceptor_variant others(1): Show |
HIGH | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 334 | 0.0030 | 0 | c.190 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 22/26 | chr17 | 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 | |||||||
ADAM2_chr8_39738735_39843227 | 39788742 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG03239.hp2 NA19030.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0200 a0001c0001t0001g0205 |
3 | 328 | 0.0091 | 0 | c.571 others(5): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 7/20 | chr8 | TogoVar | |||||||
ADAM33_chr20_3662975_3687010 | 3674286 | T | G | splice_acceptor_variant others(1): Show |
HIGH | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0343 | 1 | 460 | 0.0022 | 0 | c.601 others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 6/21 | chr20 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133566935 | G | T | splice_acceptor_variant others(1): Show |
HIGH | HG02896.hp2 | a0001 | a0001c0021 | a0001c0021t0016 | a0001c0021t0016g0129 | 1 | 150 | 0.0067 | 0 | c.174 others(6): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | chr9 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167834079 | T | A | splice_acceptor_variant others(1): Show |
HIGH | NA19078.hp1 | a0022 | a0022c0027 | a0022c0027t0001 | a0022c0027t0001g0038 | 1 | 324 | 0.0031 | 0 | c.331 others(6): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 23/32 | chr1 | TogoVar | |||||||
ADGRD2_chr9_124445451_124483580 | 124456620 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG03041.hp1 NA18522.hp2 |
a0046a0052 | a0046c0094a0052c0066 | a0046c0094t0002a0052c0066t0002 | a0046c0094t0002g0218 a0052c0066t0002g0086 |
2 | 402 | 0.0050 | 0 | c.142 others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 9/24 | chr9 | TogoVar | |||||||
ADGRE1_chr19_6882579_6945450 | 6921702 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show |
a0004a0006a0007others(24): Show | a0004c0004a0006c0006a0007c0007others(24): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(40): Show | a0004c0004t0001g0003 a0004c0004t0001g0034 a0004c0004t0001g0050 others(86): Show |
91 | 336 | 0.2708 | 1 | c.162 others(7): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADGRF3_chr2_26303175_26351789 | 26314624 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 320 | 0.0031 | 0 | c.719 others(5): Show |
ADGRF3 | ENSG00000173567.16 | transcript | ENST00000651242.2 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
ADGRV1_chr5_90553797_91169437 | 90756446 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00621.hp1 HG01167.hp1 HG01192.hp1 others(41): Show |
a0001a0005a0014others(16): Show | a0001c0001a0001c0008a0005c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(20): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(41): Show |
44 | 156 | 0.2821 | 1 | c.115 others(8): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 55/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADHFE1_chr8_66427504_66473907 | 66445216 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 400 | 0.0025 | 0 | c.354 others(5): Show |
ADHFE1 | ENSG00000147576.17 | transcript | ENST00000396623.8 | protein_coding | 5/13 | chr8 | 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 | |||||||
ADSS1_chr14_104719229_104752310 | 104744811 | G | C | splice_acceptor_variant others(1): Show |
HIGH | NA18982.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0096 | 1 | 400 | 0.0025 | 0 | c.107 others(6): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 10/12 | chr14 | TogoVar | |||||||
AEBP1_chr7_44099345_44119560 | 44112970 | TCTGTATC others(14): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19082.hp2 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0042 | 1 | 424 | 0.0024 | -21 | c.257 others(33): Show |
p.Thr others(5): Show |
AEBP1 | ENSG00000106624.11 | transcript | ENST00000223357.8 | protein_coding | 19/21 | 2570/3477 | 857/1158 | chr7 | 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 | ||||||
AGAP4_chr10_45820594_45852500 | 45828081 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 380 | 0.0026 | 0 | c.534 others(5): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 6/7 | chr10 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15385563 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0006 a0001c0005t0001g0007 |
2 | 234 | 0.0085 | 0 | c.958 others(5): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
AHSG_chr3_186608060_186626318 | 186617185 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG02615.hp1 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 2 | 438 | 0.0046 | 0 | c.410 others(5): Show |
AHSG | ENSG00000145192.13 | transcript | ENST00000411641.7 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
AIF1_chr6_31610234_31622015 | 31616342 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 436 | 0.0023 | 0 | c.197 others(5): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 4/5 | chr6 | 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 | |||||||
AKR1C2_chr10_4982775_5008857 | 5001682 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0090 | 1 | 410 | 0.0024 | 0 | c.85- others(4): Show |
AKR1C2 | ENSG00000151632.18 | transcript | ENST00000380753.9 | protein_coding | 1/8 | 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 | |||
AKT2_chr19_40225317_40290345 | 40242688 | C | G | splice_acceptor_variant others(1): Show |
HIGH | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 358 | 0.0028 | 0 | c.288 others(5): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4/13 | chr19 | TogoVar | |||||||
ALB_chr4_73399287_73426482 | 73418086 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 390 | 0.0026 | 0 | c.142 others(6): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 11/14 | chr4 | TogoVar | |||||||
ALDH6A1_chr14_74051847_74089453 | 74053659 | GGCCTCCC others(9771): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG02602.hp1 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0200 | 1 | 400 | 0.0025 | -9778 | c.150 others(15): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 12/12 | chr14 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126559319 | TCTGCATC others(18): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA18967.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0328 | 1 | 378 | 0.0026 | -25 | c.914 others(35): Show |
p.Ala others(13): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 11/18 | 949/4765 | 914/1620 | 305/539 | chr5 | TogoVar | |||
ALG1_chr16_5066843_5092379 | 5078734 | AGGCTTTT others(28): Show |
A | frameshift_variant others(3): Show |
HIGH | NA19063.hp1 | a0009 | a0009c0016 | a0009c0016t0003 | a0009c0016t0003g0096 | 1 | 442 | 0.0023 | -35 | c.741 others(45): Show |
p.Ser others(5): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 7/13 | 741/1395 | 247/464 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||
ALKBH2_chr12_109083189_109098472 | 109092924 | TTTAAAAC others(24): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 468 | 0.0021 | -31 | c.-15 others(43): Show |
ALKBH2 | ENSG00000189046.11 | transcript | ENST00000429722.3 | protein_coding | 2/4 | 139 | chr12 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006484 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA19086.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0063 | 1 | 402 | 0.0025 | 0 | c.141 others(6): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8044762 | GTGTCCCC others(40): Show |
G | splice_acceptor_variant others(2): Show |
HIGH | HG02738.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0195 |
2 | 468 | 0.0043 | -47 | c.677 others(59): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45443652 | ATCCGGGC others(79): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18960.hp1 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0226 | 1 | 344 | 0.0029 | -86 | c.157 others(98): Show |
p.Phe others(5): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 12/14 | 1574/2025 | 525/674 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show |
208 | 378 | 0.5503 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |