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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE6B_chr4_620573_675782 | 669572 | C | GCCATGCT others(12): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 303 | 0.0033 | 19 | c.250 others(36): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | chr4 | TogoVar | |||||||
PDE6C_chr10_93607537_93671010 | 93610322 | C | CCCCGCTC others(12): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 382 | 0.0026 | 19 | c.-24 others(30): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 2214 | chr10 | TogoVar | |||||||
PDE6H_chr12_14968042_14986865 | 14982038 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 2 | 170 | 0.0118 | 19 | c.*56 others(28): Show |
PDE6H | ENSG00000139053.3 | transcript | ENST00000266395.3 | protein_coding | 174 | chr12 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65798206 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0085 | 1 | 87 | 0.0115 | 19 | c.139 others(38): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65798206 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0093 | 1 | 87 | 0.0115 | 19 | c.139 others(38): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
PDE7B_chr6_135846701_136200574 | 135906813 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0007 | a0003c0007t0014 | a0003c0007t0014g0068 | 1 | 128 | 0.0078 | 19 | c.22- others(36): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135906827 | T | TTTTTGTT others(12): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0032 | 1 | 133 | 0.0075 | 19 | c.22- others(36): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135906827 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 133 | 0.0075 | 19 | c.22- others(36): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135906829 | T | TTTGTTTT others(12): Show |
intron_variant | MODIFIER | HG02895.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024 | a0001c0001t0002g0095 a0001c0001t0024g0011 |
2 | 137 | 0.0146 | 19 | c.22- others(36): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 136191013 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0022 a0001c0001t0005g0020 a0001c0001t0005g0071 |
3 | 83 | 0.0361 | 19 | c.112 others(36): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85119468 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01975.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0002 | a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0194 others(8): Show |
11 | 75 | 0.1467 | 19 | c.173 others(38): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85123386 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0343 | 1 | 339 | 0.0029 | 19 | c.208 others(36): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 19/21 | chr15 | TogoVar | |||||||
PDE8B_chr5_77205680_77433256 | 77386865 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03209.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0024 | a0001c0001t0001g0003 a0001c0001t0001g0199 a0001c0001t0002g0303 others(1): Show |
4 | 57 | 0.0702 | 19 | c.116 others(40): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77397026 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 66 | 0.0152 | 19 | c.116 others(38): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77423632 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0091 | 1 | 73 | 0.0137 | 19 | c.241 others(38): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42653533 | G | GGGGGGAG others(12): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0169 a0001c0002t0001g0173 |
2 | 319 | 0.0063 | 19 | c.-28 others(28): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 87 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 81 | 0.0123 | 19 | c.263 others(36): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDF_chr16_69321913_69335588 | 69324706 | A | ACCCAGAC others(12): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 362 | 0.0028 | 19 | c.*42 others(30): Show |
ENSG00000258429.2 | transcript | ENST00000288022.2 | protein_coding | 2206 | chr16 | TogoVar | ||||||||
PDGFA_chr7_492258_524846 | 523569 | A | AGCCGTCA others(12): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0042 | 1 | 298 | 0.0034 | 19 | c.-45 others(30): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3724 | chr7 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39228893 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 275 | 0.0036 | 19 | c.601 others(36): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156891703 | A | ACTGTAAG others(12): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01069.hp2 others(70): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0072 a0001c0001t0001g0110 a0001c0001t0001g0111 others(70): Show |
73 | 206 | 0.3544 | 19 | c.119 others(38): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104082137 | C | CATTATAT others(12): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 91 | 0.0110 | 19 | c.124 others(38): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFRA_chr4_54224293_54303245 | 54277120 | C | CGCTCACA others(12): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0108 | 1 | 298 | 0.0034 | 19 | c.178 others(36): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17577082 | T | TAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0052 a0001c0004t0001g0382 |
2 | 12 | 0.1667 | 19 | c.-17 others(28): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 133 | chr8 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(12): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 40 | 0.0250 | 19 | c.940 others(34): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01074.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0101 a0001c0001t0001g0196 others(25): Show |
28 | 67 | 0.4179 | 19 | c.940 others(34): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0312 | 1 | 40 | 0.0250 | 19 | c.940 others(34): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(12): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 40 | 0.0250 | 19 | c.940 others(34): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDHA1_chrX_19338927_19366718 | 19358828 | A | ATCCAACC others(12): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0010 | a0001c0002t0001g0074 a0001c0002t0002g0066 a0001c0002t0002g0075 others(1): Show |
5 | 245 | 0.0204 | 19 | c.900 others(32): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PDHA1_chrX_19338927_19366718 | 19364973 | G | GCGGGAGG others(12): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0012 | 1 | 245 | 0.0041 | 19 | c.*53 others(30): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 3256 | chrX | TogoVar | |||||||
PDHX_chr11_34911618_35001128 | 34926749 | G | GAAGTATG others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02083.hp1 HG02723.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 a0001c0002t0002g0130 a0001c0002t0002g0131 others(7): Show |
11 | 312 | 0.0353 | 19 | c.161 others(36): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDIA4_chr7_148998062_149033505 | 149025085 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 2 | 316 | 0.0063 | 19 | c.88+ others(34): Show |
PDIA4 | ENSG00000155660.11 | transcript | ENST00000652332.1 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
PDIA5_chr3_123062025_123167104 | 123117374 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 11 | 0.0909 | 19 | c.609 others(36): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 8/16 | chr3 | TogoVar | |||||||
PDK1_chr2_172551090_172613669 | 172583281 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0078a0001c0001t0079 | a0001c0001t0078g0269 a0001c0001t0079g0266 |
2 | 104 | 0.0192 | 19 | c.946 others(36): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PDK3_chrX_24460286_24539422 | 24496568 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0062 a0001c0001t0003g0043 |
2 | 111 | 0.0180 | 19 | c.248 others(36): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95239017 | G | GACACATA others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(87): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(5): Show | a0001c0001t0001g0248 a0001c0001t0004g0002 a0001c0001t0004g0007 others(81): Show |
90 | 336 | 0.2679 | 19 | c.686 others(34): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
PDLIM1_chr10_95232572_95296003 | 95256986 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 87 | 0.0115 | 19 | c.533 others(36): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM2_chr8_22575475_22599298 | 22592077 | C | CTTTTCTT others(12): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 206 | 0.0049 | 19 | c.881 others(34): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDLIM3_chr4_185495660_185540507 | 185497978 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0265 | 1 | 24 | 0.0417 | 19 | c.*43 others(30): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 2681 | chr4 | TogoVar | |||||||
PDLIM3_chr4_185495660_185540507 | 185537939 | G | GGGGCAAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 19 | c.-25 others(30): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 2433 | chr4 | TogoVar | |||||||
PDLIM5_chr4_94446942_94673223 | 94494432 | G | GGTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0138 | 1 | 31 | 0.0323 | 19 | c.97- others(36): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
PDLIM5_chr4_94446942_94673223 | 94620971 | T | TGAGGCAG others(12): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp1 others(17): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 others(17): Show |
20 | 216 | 0.0926 | 19 | c.110 others(38): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177497008 | G | GGGGAGGG others(12): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 | 1 | 205 | 0.0049 | 19 | c.-11 others(34): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
PDPK1_chr16_2533021_2608188 | 2533430 | A | ATTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01175.hp2 HG01261.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(2): Show | a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0057 others(7): Show |
10 | 14 | 0.7143 | 19 | c.-46 others(30): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 4590 | chr16 | TogoVar | |||||||
PDPK1_chr16_2533021_2608188 | 2533460 | T | TTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 180 | 0.0056 | 19 | c.-46 others(30): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 4560 | chr16 | TogoVar | |||||||
PDPN_chr1_13578832_13622957 | 13599011 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01515.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0214 a0001c0001t0011g0202 |
2 | 234 | 0.0085 | 19 | c.68- others(34): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDPR_chr16_70109332_70167537 | 70138207 | A | ATGTTTTT others(12): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 26 | 0.0385 | 19 | c.119 others(36): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0158 | 1 | 284 | 0.0035 | 19 | c.139 others(36): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18747.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0140 a0001c0002t0003g0149 |
2 | 285 | 0.0070 | 19 | c.139 others(36): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0143 | 1 | 284 | 0.0035 | 19 | c.139 others(36): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar |