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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZK1_chr1_145665985_145712368 | 145689616 | AGAAGGCT others(20): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 322 | 0.0031 | -27 | c.-2- others(42): Show |
PDZK1 | ENSG00000174827.14 | transcript | ENST00000417171.6 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73396665 | TACATCCT others(20): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02976.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0009a0001c0010 | a0001c0009t0001a0001c0010t0002 | a0001c0009t0001g0038a0001c0009t0001g0047a0001c0009t0001g0075others(1): Show | 4 | 216 | 0.0185 | -27 | c.125 others(46): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 5/9 | chr3 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA18612.hp1 NA18942.hp2 others(9): Show |
a0001a0002a0006others(1): Show | a0001c0011a0002c0019a0006c0007others(1): Show | a0001c0011t0003a0002c0019t0003a0006c0007t0003others(1): Show | a0001c0011t0003g0034a0001c0011t0003g0038a0001c0011t0003g0052others(9): Show | 12 | 206 | 0.0583 | -27 | c.844 others(48): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41402089 | AATATATA others(20): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 |
a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0142a0009c0021t0001g0143 | 2 | 206 | 0.0097 | -27 | c.844 others(48): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41402296 | TATACACA others(20): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02647.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0010t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0113a0001c0010t0004g0118a0002c0002t0001g0199others(3): Show | 6 | 206 | 0.0291 | -27 | c.844 others(48): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41402514 | GTGTATAT others(20): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0010t0004a0002c0002t0001others(4): Show | a0001c0001t0001g0113a0001c0010t0004g0118a0002c0002t0001g0199others(4): Show | 7 | 206 | 0.0340 | -27 | c.844 others(48): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEBP4_chr8_22708251_22932914 | 22839854 | CCAAACCC others(20): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0076 | 1 | 278 | 0.0036 | -27 | c.259 others(46): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
PEG3_chr19_56805082_56845726 | 56845326 | TTGAAAGG others(20): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(106): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0003a0001c0039others(10): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(60): Show | 109 | 416 | 0.2620 | -27 | c.-50 others(38): Show |
PEG3 | ENSG00000198300.14 | transcript | ENST00000326441.15 | protein_coding | 4601 | chr19 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17547657 | CTCCTCCT others(20): Show |
C | intron_variant | MODIFIER | HG00423.hp2 NA18612.hp2 NA18952.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0101others(3): Show | 6 | 348 | 0.0172 | -27 | c.205 others(46): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
PER2_chr2_238239044_238293610 | 238288941 | CGCACATG others(20): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 370 | 0.0027 | -27 | c.-63 others(36): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 332 | chr2 | TogoVar | ||||||
PER2_chr2_238239044_238293610 | 238289519 | GAAAGAAA others(20): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0306 | 1 | 370 | 0.0027 | -27 | c.-12 others(38): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 910 | chr2 | TogoVar | ||||||
PER2_chr2_238239044_238293610 | 238290127 | GGTGTGTG others(20): Show |
G | upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 370 | 0.0027 | -27 | c.-18 others(38): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 1518 | chr2 | TogoVar | ||||||
PER2_chr2_238239044_238293610 | 238292519 | TAGAATGG others(20): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0196 | 1 | 370 | 0.0027 | -27 | c.-42 others(38): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 3910 | chr2 | TogoVar | ||||||
PER2_chr2_238239044_238293610 | 238292814 | TGCAACCT others(20): Show |
T | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 370 | 0.0027 | -27 | c.-45 others(38): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 4205 | chr2 | TogoVar | ||||||
PER2_chr2_238239044_238293610 | 238292981 | CCGCCTCG others(20): Show |
C | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0215 | 1 | 370 | 0.0027 | -27 | c.-46 others(38): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 4372 | chr2 | TogoVar | ||||||
PERCC1_chr16_1426078_1439441 | 1428251 | TGTCGGTG others(20): Show |
T | upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 378 | 0.0027 | -27 | c.-29 others(38): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2826 | chr16 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02723.hp1 NA19085.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0239a0001c0003t0001g0133 | 2 | 258 | 0.0078 | -27 | c.170 others(46): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577550 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA20905.hp2 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0001a0001c0017t0001 | a0001c0003t0001g0134a0001c0017t0001g0130 | 2 | 258 | 0.0078 | -27 | c.170 others(46): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7196451 | TATGTGTC others(20): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004a0001c0001t0008g0225a0001c0001t0008g0226 | 8 | 428 | 0.0187 | -27 | c.449 others(44): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PF4V1_chr4_73848296_73859483 | 73855079 | ATATATAT others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 448 | 0.0045 | -27 | c.*95 others(36): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 597 | chr4 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855081 | ATATATAT others(20): Show |
A | downstream_gene_variant | MODIFIER | NA18941.hp1 NA18968.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 448 | 0.0067 | -27 | c.*96 others(36): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 599 | chr4 | TogoVar | ||||||
PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(20): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02559.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0003 | 5 | 366 | 0.0137 | -27 | c.-23 others(36): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6215432 | ATAAGGCT others(20): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0380 | 1 | 432 | 0.0023 | -27 | c.299 others(42): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKL_chr21_44295053_44332373 | 44315933 | AGGGCCCA others(20): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0066 | 1 | 392 | 0.0026 | -27 | c.748 others(42): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3105600 | TTCTCTGT others(20): Show |
T | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0264 | 1 | 402 | 0.0025 | -27 | c.774 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFN3_chr5_177395109_177405661 | 177396461 | GCTCTCCC others(20): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp1 HG02630.hp1 HG02818.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 11 | 416 | 0.0264 | -27 | c.*36 others(38): Show |
PFN3 | ENSG00000196570.3 | transcript | ENST00000358571.3 | protein_coding | 3647 | chr5 | TogoVar | ||||||
PFN3_chr5_177395109_177405661 | 177396515 | TCTCTCCC others(20): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | -27 | c.*36 others(38): Show |
PFN3 | ENSG00000196570.3 | transcript | ENST00000358571.3 | protein_coding | 3593 | chr5 | TogoVar | ||||||
PFN3_chr5_177395109_177405661 | 177396542 | GCTCTCCC others(20): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03471.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 416 | 0.0072 | -27 | c.*35 others(38): Show |
PFN3 | ENSG00000196570.3 | transcript | ENST00000358571.3 | protein_coding | 3566 | chr5 | TogoVar | ||||||
PFN3_chr5_177395109_177405661 | 177396619 | ATCCGCTC others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | -27 | c.*35 others(38): Show |
PFN3 | ENSG00000196570.3 | transcript | ENST00000358571.3 | protein_coding | 3489 | chr5 | TogoVar | ||||||
PGLYRP4_chr1_153325120_153353841 | 153350628 | GAAAGGAA others(20): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0016a0001c0001t0002g0028others(3): Show | 15 | 392 | 0.0383 | -27 | c.-21 others(38): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1788 | chr1 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68482655 | TCCTCCAA others(20): Show |
T | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 246 | 0.0041 | -27 | c.129 others(46): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13224645 | CAGCAGGG others(20): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01993.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0074a0001c0001t0002g0075a0001c0001t0002g0078others(5): Show | 8 | 108 | 0.0741 | -27 | c.987 others(44): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143813794 | ATGTTGAG others(20): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0196 | 1 | 310 | 0.0032 | -27 | c.192 others(46): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22209726 | GCTCCCTC others(20): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0166 | 1 | 231 | 0.0043 | -27 | c.164 others(46): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22209735 | GCTCCCTC others(20): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0102a0001c0001t0103 | a0001c0001t0051g0171a0001c0001t0102g0039a0001c0001t0103g0043 | 3 | 231 | 0.0130 | -27 | c.164 others(46): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF11_chr13_49490953_49533976 | 49513403 | TCACTGCA others(20): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 414 | 0.0024 | -27 | c.324 others(42): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 3/9 | chr13 | TogoVar | ||||||
PHF13_chr1_6608731_6629030 | 6615072 | GGCTGCCG others(20): Show |
G | intron_variant | MODIFIER | NA18968.hp1 NA18993.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049 | 3 | 412 | 0.0073 | -27 | c.39+ others(40): Show |
PHF13 | ENSG00000116273.6 | transcript | ENST00000377648.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHF21B_chr22_44876162_45015005 | 44884245 | TCACCACC others(20): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 HG01943.hp2 others(16): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0002t0006a0001c0002t0014others(1): Show | a0001c0002t0005g0068a0001c0002t0005g0257a0001c0002t0005g0258others(16): Show | 19 | 300 | 0.0633 | -27 | c.137 others(44): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 12/12 | chr22 | TogoVar | ||||||
PHF23_chr17_7230038_7244457 | 7243271 | AGGTTTCT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0022a0001c0003t0001g0017a0001c0003t0001g0030 | 7 | 394 | 0.0178 | -27 | c.-40 others(38): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 3815 | chr17 | TogoVar | ||||||
PHKG2_chr16_30743425_30766176 | 30748999 | GGGTGGTG others(20): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0157 | 1 | 264 | 0.0038 | -27 | c.95+ others(40): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHKG2_chr16_30743425_30766176 | 30749070 | GTGGTGGT others(20): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 264 | 0.0038 | -27 | c.95+ others(40): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHOSPHO1_chr17_49218366_49235787 | 49228270 | TTCCTTCC others(20): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02717.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0132a0001c0001t0002g0040a0001c0001t0003g0134 | 5 | 420 | 0.0119 | -27 | c.-67 others(44): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678910 | TGTGTGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | HG03710.hp2 NA19090.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056a0001c0002t0002g0072 | 2 | 350 | 0.0057 | -27 | c.*51 others(38): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2477 | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678912 | TGTGTGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 350 | 0.0029 | -27 | c.*51 others(38): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2479 | chr10 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72790485 | CCCTTATA others(20): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0317 | 1 | 346 | 0.0029 | -27 | c.253 others(44): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 2/17 | chr13 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88714229 | TGTGGGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp2 |
a0029 | a0029c0028 | a0029c0028t0001a0029c0028t0010 | a0029c0028t0001g0221a0029c0028t0010g0004 | 2 | 282 | 0.0071 | -27 | c.*13 others(38): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 1108 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88735283 | GCCCAGCA others(20): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0032 | a0032c0034 | a0032c0034t0023 | a0032c0034t0023g0277 | 1 | 282 | 0.0036 | -27 | c.155 others(42): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 12/50 | chr16 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10731175 | GATTATAT others(20): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(60): Show |
a0001a0002a0004others(16): Show | a0001c0006a0001c0007a0002c0001others(34): Show | a0001c0006t0001a0001c0007t0001a0002c0001t0001others(38): Show | a0001c0006t0001g0099a0001c0006t0001g0138a0001c0007t0001g0113others(60): Show | 63 | 158 | 0.3987 | -27 | c.502 others(44): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10944490 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0063 | 1 | 158 | 0.0063 | -27 | c.287 others(46): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 3/55 | chr18 | TogoVar | ||||||
PIGK_chr1_77083989_77224430 | 77222556 | TGCACCCA others(20): Show |
T | upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 366 | 0.0027 | -27 | c.-31 others(38): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 3127 | chr1 | TogoVar |