| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PDE6A_chr5_149852953_149949793 | 149923503 | AATAACAT others(18): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01167.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0021a0001c0001t0001g0060a0001c0001t0001g0061others(23): Show | 26 | 328 | 0.0793 | -25 | c.859 others(42): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
| PDE9A_chr21_42648621_42780509 | 42650124 | CCCAGCCT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 NA18940.hp1 NA18985.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0196a0001c0003t0001g0149a0001c0003t0001g0197others(2): Show | 5 | 324 | 0.0154 | -25 | c.-36 others(36): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3496 | chr21 | TogoVar | ||||||
| PDE9A_chr21_42648621_42780509 | 42769473 | TGCAGGTA others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(244): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0033a0001c0001t0001g0038others(243): Show | 247 | 324 | 0.7624 | -25 | c.159 others(42): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PDGFA_chr7_492258_524846 | 510747 | AGGAGGGG others(18): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0281a0001c0001t0017g0138 | 2 | 302 | 0.0066 | -25 | c.453 others(38): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
| PDGFB_chr22_39218359_39249982 | 39247876 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0154a0001c0001t0002g0023others(4): Show | 7 | 386 | 0.0181 | -25 | c.-39 others(36): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2895 | chr22 | TogoVar | ||||||
| PDGFB_chr22_39218359_39249982 | 39247878 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | -25 | c.-39 others(36): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2897 | chr22 | TogoVar | ||||||
| PDGFB_chr22_39218359_39249982 | 39247880 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG03516.hp2 NA19030.hp1 |
a0001 | a0001c0003 | a0001c0003t0017a0001c0003t0023 | a0001c0003t0017g0043a0001c0003t0023g0075 | 2 | 386 | 0.0052 | -25 | c.-39 others(36): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2899 | chr22 | TogoVar | ||||||
| PDGFB_chr22_39218359_39249982 | 39247882 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0042 | a0001c0003t0042g0200 | 1 | 386 | 0.0026 | -25 | c.-39 others(36): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2901 | chr22 | TogoVar | ||||||
| PDGFC_chr4_156755454_156976799 | 156891279 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01069.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0044others(76): Show | 79 | 208 | 0.3798 | -25 | c.119 others(44): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
| PDGFRL_chr8_17572216_17648144 | 17579098 | TGAGGCAG others(18): Show |
T | intron_variant | MODIFIER | NA18612.hp1 NA18947.hp1 NA18969.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0052a0001c0001t0001g0359a0001c0001t0001g0360others(3): Show | 6 | 400 | 0.0150 | -25 | c.55+ others(40): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PDIA4_chr7_148998062_149033505 | 149017694 | AAAATAAA others(18): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0020 | a0001c0020t0017 | a0001c0020t0017g0234 | 1 | 352 | 0.0028 | -25 | c.475 others(42): Show |
PDIA4 | ENSG00000155660.11 | transcript | ENST00000652332.1 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
| PDLIM1_chr10_95232572_95296003 | 95256985 | AAAAAGAA others(18): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 338 | 0.0030 | -25 | c.533 others(42): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39909040 | AAAAATAA others(18): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 356 | 0.0028 | -25 | c.108 others(42): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 10/32 | chr4 | TogoVar | ||||||
| PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG02257.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0035 | a0001c0001t0006g0173a0001c0001t0035g0300 | 2 | 334 | 0.0060 | -25 | c.-19 others(44): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PDSS1_chr10_26692701_26751798 | 26696732 | ATTTCCTC others(18): Show |
A | upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 416 | 0.0024 | -25 | c.-97 others(34): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 968 | chr10 | TogoVar | ||||||
| PDXK_chr21_43714129_43767299 | 43734160 | CTGTGGGT others(18): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02486.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0037a0001c0001t0052a0001c0003t0008others(3): Show | a0001c0001t0037g0336a0001c0001t0052g0358a0001c0003t0008g0003others(5): Show | 8 | 358 | 0.0224 | -25 | c.142 others(39): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PDXK_chr21_43714129_43767299 | 43741267 | CGGGGGGG others(18): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03098.hp2 NA19067.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0014a0001c0002t0003 | a0001c0001t0013g0223a0001c0001t0014g0173a0001c0002t0003g0101 | 3 | 358 | 0.0084 | -25 | c.143 others(40): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PDXK_chr21_43714129_43767299 | 43741394 | CGGGGGGG others(18): Show |
C | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 358 | 0.0028 | -25 | c.143 others(40): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PDXP_chr22_37653723_37671932 | 37661917 | ATTTTTTT others(18): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0068a0001c0001t0001g0069 | 6 | 418 | 0.0144 | -25 | c.574 others(42): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31988453 | ATCACCCT others(18): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02257.hp2 others(14): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0005a0001c0034others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(12): Show | a0001c0001t0001g0045a0001c0001t0001g0195a0001c0001t0008g0181others(14): Show | 17 | 216 | 0.0787 | -25 | c.978 others(42): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 32003127 | ACACACAC others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(103): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0007others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(103): Show | 106 | 216 | 0.4907 | -25 | c.125 others(44): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD8_chr10_117272274_117380440 | 117281351 | CAAAAAAA others(18): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18977.hp2 NA18984.hp2 NA18990.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0064 | a0001c0001t0010g0206a0001c0001t0010g0215a0001c0001t0010g0229others(4): Show | 7 | 322 | 0.0217 | -25 | c.*18 others(36): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 5/5 | 1892 | chr10 | TogoVar | |||||
| PDZD8_chr10_117272274_117380440 | 117357765 | CCAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG02083.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0003g0167a0001c0001t0006g0015a0001c0001t0007g0154others(12): Show | 15 | 322 | 0.0466 | -25 | c.872 others(44): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| PDZK1IP1_chr1_47178582_47195036 | 47191410 | TGTGTGTG others(18): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0017a0001c0001t0004g0013 | 6 | 426 | 0.0141 | -25 | c.-15 others(36): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 1375 | chr1 | TogoVar | ||||||
| PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(18): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02148.hp1 others(26): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0010a0001c0013others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(14): Show | a0001c0001t0001g0042a0001c0001t0001g0064a0001c0001t0002g0014others(26): Show | 29 | 206 | 0.1408 | -25 | c.844 others(46): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41402184 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | NA18978.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0073 | 1 | 206 | 0.0049 | -25 | c.844 others(46): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41402211 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp2 HG06807.hp1 |
a0001a0020 | a0001c0001a0001c0013a0020c0033 | a0001c0001t0002a0001c0013t0001a0020c0033t0006 | a0001c0001t0002g0154a0001c0013t0001g0085a0020c0033t0006g0093 | 3 | 206 | 0.0146 | -25 | c.844 others(46): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PEAK1_chr15_77103158_77425104 | 77193803 | TAACTAAA others(18): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0293 | 1 | 326 | 0.0031 | -25 | c.-11 others(46): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
| PEMT_chr17_17500563_17596708 | 17586264 | GAAAGAAA others(18): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 348 | 0.0029 | -25 | c.96+ others(40): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
| PER2_chr2_238239044_238293610 | 238285676 | ACCAGAGG others(18): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0014 | a0014c0029 | a0014c0029t0020 | a0014c0029t0020g0032 | 1 | 370 | 0.0027 | -25 | c.-20 others(42): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 977724 | ACCGACCA others(18): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01361.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0002a0001c0001t0003a0001c0020t0002 | a0001c0001t0002g0008a0001c0001t0002g0106a0001c0001t0003g0001others(4): Show | 11 | 408 | 0.0270 | -25 | c.215 others(44): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PEX12_chr17_35569795_35583571 | 35570854 | CTTTTTCT others(18): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01433.hp2 HG01975.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0033 | 14 | 436 | 0.0321 | -25 | c.*49 others(36): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 3940 | chr17 | TogoVar | ||||||
| PEX12_chr17_35569795_35583571 | 35583115 | CTTTTTTT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 1 | 436 | 0.0023 | -25 | c.-51 others(36): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4545 | chr17 | TogoVar | ||||||
| PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01070.hp1 HG01175.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0106a0001c0001t0001g0141a0001c0001t0001g0143others(4): Show | 7 | 258 | 0.0271 | -25 | c.170 others(44): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PEX14_chr1_10469950_10635758 | 10577550 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02738.hp2 HG03942.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0137a0001c0001t0001g0165a0001c0003t0001g0149others(1): Show | 4 | 258 | 0.0155 | -25 | c.170 others(44): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PEX14_chr1_10469950_10635758 | 10577552 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18939.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0243 | 2 | 258 | 0.0078 | -25 | c.170 others(44): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PEX14_chr1_10469950_10635758 | 10620291 | CAATAAAA others(18): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0248a0001c0002t0001g0177 | 2 | 258 | 0.0078 | -25 | c.384 others(42): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PEX1_chr7_92482025_92533520 | 92516040 | AGAGAAGA others(18): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 310 | 0.0032 | -25 | c.123 others(44): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
| PEX1_chr7_92482025_92533520 | 92516045 | AGAGAAGA others(18): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 310 | 0.0032 | -25 | c.123 others(44): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
| PF4V1_chr4_73848296_73859483 | 73855081 | ATATATAT others(18): Show |
A | downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -25 | c.*96 others(34): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 599 | chr4 | TogoVar | ||||||
| PF4V1_chr4_73848296_73859483 | 73855083 | ATATATAT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 448 | 0.0045 | -25 | c.*96 others(34): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 601 | chr4 | TogoVar | ||||||
| PF4V1_chr4_73848296_73859483 | 73855087 | ATATATAT others(18): Show |
A | downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -25 | c.*96 others(34): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 605 | chr4 | TogoVar | ||||||
| PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(18): Show |
C | upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | -25 | c.-23 others(34): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | ||||||
| PFKP_chr10_3062548_3141802 | 3078241 | TCATTGCA others(18): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG03471.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0005 | a0001c0002t0002g0101a0001c0008t0005g0401 | 2 | 402 | 0.0050 | -25 | c.113 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3084750 | AGCCCCTC others(18): Show |
A | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0140 | 1 | 402 | 0.0025 | -25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | ||||||
| PFKP_chr10_3062548_3141802 | 3085145 | CCCAGCAC others(18): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0220 | 1 | 402 | 0.0025 | -25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3085266 | CCCAGCAC others(18): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG03098.hp2 NA18522.hp1 |
a0001a0010 | a0001c0010a0001c0014a0010c0048 | a0001c0010t0001a0001c0014t0006a0010c0048t0015 | a0001c0010t0001g0236a0001c0014t0006g0353a0010c0048t0015g0354 | 3 | 402 | 0.0075 | -25 | c.186 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PGAP6_chr16_365788_386978 | 381313 | AGGCCGGA others(18): Show |
A | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 376 | 0.0027 | -25 | c.121 others(40): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| PGBD1_chr6_28276572_28307549 | 28281635 | GCTCTGGG others(18): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02622.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0004a0002c0003t0005g0035a0002c0003t0005g0107others(2): Show | 7 | 408 | 0.0172 | -25 | c.-32 others(34): Show |
PGBD1 | ENSG00000137338.6 | transcript | ENST00000682144.1 | protein_coding | 1/7 | 2154 | chr6 | TogoVar | |||||
| PGLS_chr19_17506649_17526288 | 17514033 | CCGGTTCT others(18): Show |
C | intron_variant | MODIFIER | HG03927.hp2 HG04184.hp1 HG04228.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0004t0001g0123 | 3 | 442 | 0.0068 | -25 | c.288 others(42): Show |
PGLS | ENSG00000130313.7 | transcript | ENST00000252603.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |