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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COPS7A_chr12_6719046_6736865 | 6733399 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 NA18945.hp1 NA18956.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0017 | a0001c0002t0003g0008a0001c0002t0003g0013a0001c0002t0003g0038others(5): Show | 12 | 474 | 0.0253 | 11 | c.*23 others(22): Show |
COPS7A | ENSG00000111652.10 | transcript | ENST00000543155.6 | protein_coding | 1535 | chr12 | TogoVar | ||||||
COPZ1_chr12_54320131_54356846 | 54323668 | C | CTTTCTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 368 | 0.0027 | 11 | c.-14 others(22): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1462 | chr12 | TogoVar | ||||||
COPZ2_chr17_48021167_48042797 | 48021893 | A | ACTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG02258.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029a0001c0001t0001g0091a0001c0001t0002g0090 | 4 | 396 | 0.0101 | 11 | c.*45 others(22): Show |
COPZ2 | ENSG00000005243.10 | transcript | ENST00000621465.5 | protein_coding | 4273 | chr17 | TogoVar | ||||||
COPZ2_chr17_48021167_48042797 | 48021893 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0046others(1): Show | 8 | 396 | 0.0202 | 11 | c.*45 others(22): Show |
COPZ2 | ENSG00000005243.10 | transcript | ENST00000621465.5 | protein_coding | 4273 | chr17 | TogoVar | ||||||
COPZ2_chr17_48021167_48042797 | 48025400 | G | GCCATGAT others(4): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 396 | 0.0025 | 11 | c.*10 others(22): Show |
COPZ2 | ENSG00000005243.10 | transcript | ENST00000621465.5 | protein_coding | 766 | chr17 | TogoVar | ||||||
COPZ2_chr17_48021167_48042797 | 48025483 | G | GACGATGT others(4): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 396 | 0.0025 | 11 | c.*94 others(20): Show |
COPZ2 | ENSG00000005243.10 | transcript | ENST00000621465.5 | protein_coding | 683 | chr17 | TogoVar | ||||||
COQ5_chr12_120498279_120534158 | 120527988 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 388 | 0.0026 | 11 | c.202 others(26): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
COQ7_chr16_19062614_19085095 | 19064374 | T | TGTGTGTG others(4): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 | 1 | 372 | 0.0027 | 11 | c.-32 others(22): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3239 | chr16 | TogoVar | ||||||
COQ7_chr16_19062614_19085095 | 19073308 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 372 | 0.0027 | 11 | c.253 others(26): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
COQ7_chr16_19062614_19085095 | 19073316 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01069.hp1 others(61): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0007 | a0001c0001t0001a0001c0001t0004a0002c0003t0002others(3): Show | a0001c0001t0001g0090a0001c0001t0004g0102a0002c0003t0002g0006others(30): Show | 64 | 372 | 0.1720 | 11 | c.253 others(26): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
COQ7_chr16_19062614_19085095 | 19073325 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01358.hp1 others(30): Show |
a0002a0006 | a0002c0002a0006c0011 | a0002c0002t0003a0002c0002t0008a0002c0002t0019others(1): Show | a0002c0002t0003g0011a0002c0002t0003g0014a0002c0002t0003g0020others(17): Show | 33 | 372 | 0.0887 | 11 | c.253 others(26): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 2/5 | chr16 | TogoVar | ||||||
COQ7_chr16_19062614_19085095 | 19077590 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03453.hp2 |
a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0163a0002c0006t0009g0164 | 2 | 372 | 0.0054 | 11 | c.576 others(26): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
COQ8B_chr19_40686530_40721886 | 40713701 | G | GACTCTGT others(4): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02257.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0015a0001c0002t0001g0055a0001c0002t0001g0057others(5): Show | 9 | 410 | 0.0220 | 11 | c.289 others(26): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 4/14 | chr19 | TogoVar | ||||||
COQ9_chr16_57442479_57466270 | 57449682 | G | GCTTTACT others(4): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0091 | 1 | 404 | 0.0025 | 11 | c.74- others(26): Show |
COQ9 | ENSG00000088682.14 | transcript | ENST00000262507.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CORIN_chr4_47589001_47843067 | 47599449 | A | AAGCAGTA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(75): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0002a0001c0021others(7): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0054a0001c0001t0001g0062others(75): Show | 78 | 264 | 0.2955 | 11 | c.294 others(28): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 21/21 | chr4 | TogoVar | ||||||
CORIN_chr4_47589001_47843067 | 47632753 | A | AGATAGAT others(4): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0223 | 1 | 264 | 0.0038 | 11 | c.219 others(30): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | ||||||
CORIN_chr4_47589001_47843067 | 47632757 | A | AGATAGAT others(4): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 264 | 0.0038 | 11 | c.219 others(30): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | ||||||
CORO1B_chr11_67430510_67448476 | 67443725 | G | GGCGCCGC others(4): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 354 | 0.0028 | 11 | c.-33 others(20): Show |
CORO1B | ENSG00000172725.14 | transcript | ENST00000341356.10 | protein_coding | 250 | chr11 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98119798 | G | GTTTTTGT others(4): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01261.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0037others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0022a0001c0001t0002g0061others(13): Show | 16 | 342 | 0.0468 | 11 | c.*49 others(22): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1176 | chr9 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98119798 | G | GTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 HG06807.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0046 | a0001c0001t0002g0288a0001c0001t0006g0335a0001c0001t0046g0278 | 3 | 342 | 0.0088 | 11 | c.*49 others(22): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1176 | chr9 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98119802 | G | GTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0338 | 1 | 342 | 0.0029 | 11 | c.*49 others(22): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1172 | chr9 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68575577 | G | GCCCCCCC others(4): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0180a0001c0001t0002g0089others(2): Show | 5 | 256 | 0.0195 | 11 | c.-36 others(22): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 3415 | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68576169 | A | AAAGAAAG others(4): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0238 | 1 | 256 | 0.0039 | 11 | c.-30 others(22): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2823 | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68705436 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02615.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0132a0001c0001t0001g0182a0001c0001t0001g0228others(6): Show | 9 | 256 | 0.0352 | 11 | c.334 others(28): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CORO7_chr16_4349542_4421596 | 4395996 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG02145.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0023others(4): Show | a0001c0002t0001a0001c0004t0001a0001c0023t0001others(4): Show | a0001c0002t0001g0039a0001c0004t0001g0001a0001c0004t0001g0041others(7): Show | 12 | 297 | 0.0404 | 11 | c.565 others(26): Show |
CORO7 | ENSG00000262246.6 | transcript | ENST00000251166.9 | protein_coding | 6/27 | chr16 | TogoVar | ||||||
COX10_chr17_14064504_14213677 | 14175083 | C | CGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03516.hp1 NA18999.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0002a0002c0002t0005 | a0001c0003t0002g0007a0001c0003t0002g0009a0001c0003t0002g0023others(2): Show | 5 | 322 | 0.0155 | 11 | c.695 others(30): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COX11_chr17_54955422_54973654 | 54958748 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0014 | a0001c0001t0003g0004a0001c0001t0003g0013a0001c0001t0003g0021others(11): Show | 37 | 436 | 0.0849 | 11 | c.*39 others(22): Show |
COX11 | ENSG00000166260.13 | transcript | ENST00000299335.8 | protein_coding | 1673 | chr17 | TogoVar | ||||||
COX16_chr14_70320081_70364683 | 70328072 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(27): Show | 39 | 376 | 0.1037 | 11 | c.204 others(28): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
COX16_chr14_70320081_70364683 | 70328855 | A | ATGTATGA others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 376 | 0.0027 | 11 | c.204 others(26): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
COX16_chr14_70320081_70364683 | 70357158 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0278 | 1 | 376 | 0.0027 | 11 | c.69+ others(26): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0212 | 1 | 384 | 0.0026 | 11 | c.434 others(26): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
COX4I2_chr20_31632912_31650006 | 31633906 | T | TAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG02976.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0086others(4): Show | 8 | 300 | 0.0267 | 11 | c.-40 others(22): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 4005 | chr20 | TogoVar | ||||||
COX4I2_chr20_31632912_31650006 | 31648468 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0117 | 2 | 300 | 0.0067 | 11 | c.*35 others(22): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 3463 | chr20 | TogoVar | ||||||
COX5A_chr15_74914791_74943073 | 74933418 | A | ATATCTAT others(4): Show |
intron_variant | MODIFIER | HG01167.hp2 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253a0001c0001t0002g0277 | 2 | 428 | 0.0047 | 11 | c.101 others(28): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
COX5A_chr15_74914791_74943073 | 74939066 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0038 | 2 | 428 | 0.0047 | 11 | c.-10 others(22): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 994 | chr15 | TogoVar | ||||||
COX6A1_chr12_120433113_120445730 | 120438788 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02015.hp2 HG02698.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 10 | 426 | 0.0235 | 11 | c.246 others(26): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COX6A2_chr16_31422731_31433360 | 31427909 | C | CCGCGCCC others(4): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 412 | 0.0024 | 11 | c.211 others(24): Show |
COX6A2 | ENSG00000156885.6 | transcript | ENST00000287490.5 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
COX6A2_chr16_31422731_31433360 | 31427925 | C | CCGCGCGC others(4): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18948.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 3 | 412 | 0.0073 | 11 | c.211 others(24): Show |
COX6A2 | ENSG00000156885.6 | transcript | ENST00000287490.5 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
COX6A2_chr16_31422731_31433360 | 31427926 | C | CGCGCGCA others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 412 | 0.0024 | 11 | c.211 others(24): Show |
COX6A2 | ENSG00000156885.6 | transcript | ENST00000287490.5 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
COX6B1_chr19_35643323_35663782 | 35647250 | G | GAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 440 | 0.0023 | 11 | c.-11 others(22): Show |
COX6B1 | ENSG00000126267.11 | transcript | ENST00000649813.2 | protein_coding | 1072 | chr19 | TogoVar | ||||||
COX6B1_chr19_35643323_35663782 | 35655788 | T | TCTCTCTC others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 440 | 0.0023 | 11 | c.207 others(28): Show |
COX6B1 | ENSG00000126267.11 | transcript | ENST00000649813.2 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
COX7A2L_chr2_42344338_42366217 | 42355717 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 | 2 | 406 | 0.0049 | 11 | c.73- others(26): Show |
COX7A2L | ENSG00000115944.15 | transcript | ENST00000234301.3 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
COX7A2L_chr2_42344338_42366217 | 42364250 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0003a0001c0001t0005g0054 | 2 | 406 | 0.0049 | 11 | c.-31 others(22): Show |
COX7A2L | ENSG00000115944.15 | transcript | ENST00000234301.3 | protein_coding | 3034 | chr2 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46880993 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG01934.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0079a0001c0001t0001g0226a0001c0001t0001g0243others(9): Show | 12 | 300 | 0.0400 | 11 | c.-10 others(32): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46905814 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18945.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0063a0001c0001t0002g0064 | 3 | 300 | 0.0100 | 11 | c.-10 others(30): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46908738 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01358.hp2 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0070a0001c0001t0002g0071others(2): Show | 5 | 300 | 0.0167 | 11 | c.-10 others(28): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
COX8C_chr14_93342182_93353356 | 93347347 | C | CACGCAGG others(4): Show |
frameshift_variant | HIGH | NA19043.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0013 | 1 | 427 | 0.0023 | 11 | c.79_ others(16): Show |
p.Arg others(4): Show |
COX8C | ENSG00000187581.3 | transcript | ENST00000342144.3 | protein_coding | 1/2 | 167/542 | 80/219 | 27/72 | chr14 | TogoVar | ||
CPA1_chr7_130375494_130393108 | 130392366 | A | ACACACAC others(4): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 434 | 0.0023 | 11 | c.*43 others(22): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 4259 | chr7 | TogoVar | ||||||
CPA1_chr7_130375494_130393108 | 130392391 | C | CACACACA others(4): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 434 | 0.0023 | 11 | c.*43 others(22): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 4284 | chr7 | TogoVar | ||||||
CPA2_chr7_130261863_130294798 | 130267771 | T | TCTCTTTC others(4): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 400 | 0.0025 | 11 | c.71+ others(24): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 1/10 | chr7 | TogoVar |