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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE7A_chr8_65709334_65847064 | 65728639 | ATAAAGCA others(21): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019a0001c0001t0020others(5): Show | a0001c0001t0004g0200a0001c0001t0004g0202a0001c0001t0004g0203others(23): Show | 26 | 248 | 0.1048 | -28 | c.697 others(45): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 7/12 | chr8 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85066583 | AACACACA others(21): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG01891.hp2 others(35): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0002t0001a0006c0008t0001 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0179others(35): Show | 38 | 344 | 0.1105 | -28 | c.244 others(43): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42670647 | TCATTCAC others(21): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02818.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(3): Show | a0001c0001t0001g0177a0001c0001t0001g0179a0001c0001t0001g0180others(5): Show | 8 | 324 | 0.0247 | -28 | c.70- others(45): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDGFA_chr7_492258_524846 | 502783 | CACACACA others(21): Show |
C | intron_variant | MODIFIER | HG02738.hp2 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0024a0001c0002t0028g0121 | 2 | 302 | 0.0066 | -28 | c.454 others(45): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247873 | AAAAAAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 386 | 0.0026 | -28 | c.-39 others(39): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2892 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247875 | AAAAAAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01074.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0036others(13): Show | 21 | 386 | 0.0544 | -28 | c.-39 others(39): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2894 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247877 | AAAAAAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0017others(35): Show | 64 | 386 | 0.1658 | -28 | c.-39 others(39): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2896 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247879 | AAAAAAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02109.hp2 HG02165.hp2 others(9): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0033others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0029others(7): Show | 12 | 386 | 0.0311 | -28 | c.-39 others(39): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2898 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247881 | AAAAAAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0134a0001c0001t0010g0180a0001c0001t0010g0181others(2): Show | 5 | 386 | 0.0130 | -28 | c.-39 others(39): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2900 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247883 | AAAAAAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 386 | 0.0026 | -28 | c.-39 others(39): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2902 | chr22 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156945342 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG02080.hp1 NA18612.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0034others(1): Show | a0001c0001t0003g0189a0001c0001t0003g0190a0001c0001t0003g0191others(19): Show | 22 | 208 | 0.1058 | -28 | c.118 others(47): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156974933 | AATATATA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0022others(33): Show | 36 | 208 | 0.1731 | -28 | c.-40 others(39): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3135 | chr4 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 103955163 | CAAAAAAA others(21): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG00741.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(1): Show | a0001c0001t0002g0127a0001c0001t0002g0177a0001c0001t0002g0178others(10): Show | 13 | 200 | 0.0650 | -28 | c.511 others(45): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17638738 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0230a0001c0002t0001g0231 | 2 | 400 | 0.0050 | -28 | c.940 others(45): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDIA5_chr3_123062025_123167104 | 123151975 | GCCTTCCT others(21): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02293.hp2 HG03927.hp1 others(4): Show |
a0001a0009 | a0001c0001a0001c0003a0009c0019 | a0001c0001t0001a0001c0003t0001a0009c0019t0001 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0115others(4): Show | 7 | 332 | 0.0211 | -28 | c.127 others(47): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDILT_chr16_20354175_20409737 | 20367024 | CTTCTTTC others(21): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01255.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0005others(3): Show | a0001c0001t0001a0001c0009t0001a0002c0005t0001others(3): Show | a0001c0001t0001g0204a0001c0009t0001g0281a0001c0009t0001g0283others(13): Show | 16 | 406 | 0.0394 | -28 | c.111 others(47): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 8/11 | chr16 | TogoVar | ||||||
PDILT_chr16_20354175_20409737 | 20408194 | TCCAGAGT others(21): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp1 HG02145.hp1 HG02486.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0168a0002c0003t0001g0335a0002c0003t0001g0338 | 3 | 406 | 0.0074 | -28 | c.-37 others(39): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 3458 | chr16 | TogoVar | ||||||
PDK4_chr7_95578499_95601516 | 95580039 | TTATATAT others(21): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0076 | 1 | 384 | 0.0026 | -28 | c.*55 others(39): Show |
PDK4 | ENSG00000004799.8 | transcript | ENST00000005178.6 | protein_coding | 3459 | chr7 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94543778 | CTGTGTGT others(21): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG02129.hp2 HG02602.hp2 others(12): Show |
a0001a0003a0010 | a0001c0002a0001c0006a0003c0007others(1): Show | a0001c0002t0002a0001c0006t0006a0001c0006t0013others(4): Show | a0001c0002t0002g0091a0001c0006t0006g0041a0001c0006t0006g0042others(12): Show | 15 | 218 | 0.0688 | -28 | c.248 others(47): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDP2_chr16_66875515_66896101 | 66887991 | GTCCTTCC others(21): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02717.hp2 HG02976.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0028 | a0001c0001t0025g0017a0001c0001t0028g0004a0001c0001t0028g0019 | 4 | 356 | 0.0112 | -28 | c.*21 others(39): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2/2 | 2158 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
PDS5A_chr4_39817863_39982911 | 39817880 | CTATATAT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0072 | 2 | 356 | 0.0056 | -28 | c.*75 others(39): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 4982 | chr4 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(21): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02723.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0017others(1): Show | a0001c0001t0002g0184a0001c0001t0008g0297a0001c0001t0008g0304others(8): Show | 11 | 334 | 0.0329 | -28 | c.-19 others(47): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDXP_chr22_37653723_37671932 | 37661330 | CAGTGTGG others(21): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp1 others(93): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0100a0001c0001t0002g0001a0001c0001t0002g0011others(25): Show | 96 | 418 | 0.2297 | -28 | c.574 others(45): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | chr22 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31651179 | ATGTCCAA others(21): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG01175.hp1 others(14): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0007a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0107a0001c0001t0001g0165a0001c0001t0002g0056others(14): Show | 17 | 216 | 0.0787 | -28 | c.-36 others(49): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31691451 | GCCTGCTT others(21): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0184 | 1 | 216 | 0.0046 | -28 | c.-36 others(49): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31691470 | CCTGGCGC others(21): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(83): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0007others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(54): Show | a0001c0001t0001g0038a0001c0001t0001g0047a0001c0001t0001g0059others(83): Show | 86 | 216 | 0.3982 | -28 | c.-36 others(49): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31840396 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0106 | 1 | 216 | 0.0046 | -28 | c.476 others(47): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD8_chr10_117272274_117380440 | 117357765 | CCAAAAAA others(21): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02717.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0044a0001c0002t0008a0001c0002t0009others(3): Show | a0001c0001t0044g0014a0001c0002t0008g0076a0001c0002t0008g0095others(9): Show | 12 | 322 | 0.0373 | -28 | c.872 others(47): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(21): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 322 | 0.0031 | -28 | c.872 others(47): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(21): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp2 HG01169.hp2 others(5): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0024a0006c0007others(3): Show | a0001c0001t0001a0002c0024t0002a0006c0007t0003others(3): Show | a0001c0001t0001g0151a0002c0024t0002g0133a0006c0007t0003g0024others(5): Show | 8 | 206 | 0.0388 | -28 | c.844 others(49): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41540875 | TGTTGTTG others(21): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01243.hp2 HG02895.hp2 others(2): Show |
a0004a0006a0010others(1): Show | a0004c0003a0006c0007a0006c0049others(2): Show | a0004c0003t0002a0006c0007t0003a0006c0049t0002others(2): Show | a0004c0003t0002g0057a0006c0007t0003g0024a0006c0049t0002g0028others(2): Show | 5 | 206 | 0.0243 | -28 | c.120 others(49): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEAK3_chr19_2269631_2287175 | 2275867 | GGTGCTCC others(21): Show |
G | frameshift_variant | HIGH | HG03669.hp1 | a0007 | a0007c0012 | a0007c0012t0002 | a0007c0012t0002g0075 | 1 | 454 | 0.0022 | -28 | c.120 others(37): Show |
p.Gly others(5): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 4/4 | 1327/2564 | 1207/1422 | 403/473 | chr19 | TogoVar | ||
PELP1_chr17_4664774_4709137 | 4680750 | TCAAACCA others(21): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 316 | 0.0032 | -28 | c.642 others(45): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 5/16 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586264 | GAAAGAAA others(21): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0119a0001c0001t0001g0146a0001c0001t0001g0147others(1): Show | 4 | 348 | 0.0115 | -28 | c.96+ others(43): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977724 | ACCGACCA others(21): Show |
A | intron_variant | MODIFIER | NA19070.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0063 | 1 | 408 | 0.0025 | -28 | c.215 others(47): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977987 | AATCCCCC others(21): Show |
A | intron_variant | MODIFIER | NA19009.hp1 NA20300.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0004c0004t0002 | a0001c0001t0003g0102a0004c0004t0002g0191 | 2 | 408 | 0.0049 | -28 | c.214 others(45): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PET117_chr20_18132863_18148169 | 18139648 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | HG00621.hp2 NA18941.hp2 NA18950.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0026a0001c0001t0001g0039others(2): Show | 14 | 424 | 0.0330 | -28 | c.96+ others(43): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02129.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0244 | 2 | 258 | 0.0078 | -28 | c.170 others(47): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577550 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG03492.hp2 HG03654.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0132a0001c0001t0001g0220a0001c0003t0001g0063others(2): Show | 5 | 258 | 0.0194 | -28 | c.170 others(47): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577554 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 258 | 0.0039 | -28 | c.170 others(47): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX1_chr7_92482025_92533520 | 92515067 | CTATATAT others(21): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0001a0001c0006t0001a0001c0009t0003 | a0001c0001t0001g0228a0001c0006t0001g0056a0001c0009t0003g0041 | 3 | 310 | 0.0097 | -28 | c.124 others(47): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7201148 | CGCACACA others(21): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(166): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(137): Show | 169 | 428 | 0.3949 | -28 | c.552 others(43): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 6/15 | chr12 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855056 | GATATATA others(21): Show |
G | downstream_gene_variant | MODIFIER | HG03654.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 448 | 0.0045 | -28 | c.*93 others(37): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 574 | chr4 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855079 | ATATATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0004g0001 | 25 | 448 | 0.0558 | -28 | c.*95 others(37): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 597 | chr4 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855081 | ATATATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(141): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0004t0001g0001 | 144 | 448 | 0.3214 | -28 | c.*96 others(37): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 599 | chr4 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855083 | ATATATAT others(21): Show |
A | downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG01928.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 448 | 0.0223 | -28 | c.*96 others(37): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 601 | chr4 | TogoVar | ||||||
PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01069.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0002g0003 | 43 | 366 | 0.1175 | -28 | c.-23 others(37): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | ||||||
PFDN2_chr1_161095561_161123037 | 161097716 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | -28 | c.*29 others(39): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2844 | chr1 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3062821 | ATTCACTC others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(48): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(89): Show | a0001c0001t0002g0006a0001c0001t0002g0022a0001c0001t0002g0036others(260): Show | 263 | 402 | 0.6542 | -28 | c.-47 others(39): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 4726 | chr10 | TogoVar | ||||||
PGAM1_chr10_97421191_97438444 | 97425926 | GCCGCCCT others(21): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 438 | 0.0023 | -28 | c.-38 others(37): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar |