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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCBP1_chr2_70082477_70094203 | 70091264 | C | CCTCAGAC others(42): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 402 | 0.0025 | 49 | c.*24 others(60): Show |
PCBP1 | ENSG00000169564.7 | transcript | ENST00000303577.7 | protein_coding | 2062 | chr2 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45746675 | G | GTTGTGTC others(42): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0006 | 1 | 169 | 0.0059 | 49 | c.-16 others(68): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | chr21 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 731651 | C | CTCCTCCC others(42): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 | 1 | 208 | 0.0048 | 49 | c.-10 others(64): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 731948 | C | CCCCCTCC others(42): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0271 | 1 | 322 | 0.0031 | 49 | c.-10 others(64): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 731971 | T | TGGTCCTC others(42): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02965.hp2 HG03490.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0027 | a0001c0001t0003g0031 a0001c0001t0003g0051 a0001c0001t0014g0062 others(2): Show |
5 | 187 | 0.0267 | 49 | c.-10 others(64): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762550 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03688.hp2 HG03831.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 a0002c0002t0002g0103 a0002c0002t0002g0104 |
3 | 326 | 0.0092 | 49 | c.56- others(64): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(42): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 208 | 0.0048 | 49 | c.354 others(66): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(42): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0095 |
2 | 209 | 0.0096 | 49 | c.354 others(66): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586572 | G | GTGTGTGT others(42): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0035 |
5 | 379 | 0.0132 | 49 | c.354 others(66): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46423697 | G | GGAGGAGG others(42): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02723.hp2 |
a0020 | a0020c0029 | a0020c0029t0001 | a0020c0029t0001g0110 a0020c0029t0001g0121 |
2 | 329 | 0.0061 | 49 | c.717 others(68): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311936 | C | CCCCTCAC others(42): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0072 | 1 | 189 | 0.0053 | 49 | c.269 others(68): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101312088 | C | CCCCTCAC others(42): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01346.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0002others(2): Show | a0001c0001t0002g0180 a0001c0001t0002g0255 a0001c0001t0005g0285 others(5): Show |
8 | 214 | 0.0374 | 49 | c.269 others(68): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101312088 | C | CCCCTCAC others(42): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18945.hp1 NA18986.hp1 |
a0001a0014 | a0001c0001a0014c0046 | a0001c0001t0002a0014c0046t0001 | a0001c0001t0002g0147 a0001c0001t0002g0161 a0014c0046t0001g0242 |
3 | 209 | 0.0144 | 49 | c.269 others(68): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCTP_chr17_55746051_55782374 | 55769593 | T | TGGGGGGG others(42): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 288 | 0.0035 | 49 | c.260 others(66): Show |
PCTP | ENSG00000141179.14 | transcript | ENST00000268896.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PCYOX1_chr2_70253137_70286185 | 70275327 | T | TGGGGGGG others(42): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0121 | 1 | 422 | 0.0024 | 49 | c.706 others(64): Show |
PCYOX1 | ENSG00000116005.12 | transcript | ENST00000433351.7 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAATAT others(42): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 119 | 0.0084 | 49 | c.117 others(66): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66873521 | T | TATAATAT others(42): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | 3 | 0.6667 | 49 | c.1-1 others(62): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177946425 | G | GCCCGGCC others(42): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0004 | a0002c0004t0043 | a0002c0004t0043g0137 | 1 | 168 | 0.0060 | 49 | c.107 others(70): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 651173 | A | AGCAGTGG others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19240.hp1 |
a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0251 a0005c0011t0001g0252 |
2 | 224 | 0.0089 | 49 | c.712 others(66): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42778563 | G | GCCCCCGC others(42): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01109.hp2 others(40): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0040 others(40): Show |
43 | 225 | 0.1911 | 49 | c.*32 others(60): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3055 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42778581 | G | GCCCCGTC others(42): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0172 a0001c0002t0001g0159 a0001c0002t0001g0162 others(4): Show |
7 | 277 | 0.0253 | 49 | c.*32 others(60): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3073 | chr21 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511336 | T | TGGCAGGG others(42): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0201 | 1 | 86 | 0.0116 | 49 | c.266 others(64): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 117 | 0.0085 | 49 | c.313 others(66): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741245 | C | CGGGGGGG others(42): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0342 | 1 | 285 | 0.0035 | 49 | c.143 others(64): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(42): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 39 | 0.0256 | 49 | c.-26 others(60): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7197071 | G | GTAATTAT others(42): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 330 | 0.0030 | 49 | c.449 others(66): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084904 | T | TCCAGCAC others(42): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02922.hp1 |
a0001 | a0001c0005a0001c0044 | a0001c0005t0003a0001c0044t0001 | a0001c0005t0003g0187 a0001c0044t0001g0185 |
2 | 388 | 0.0052 | 49 | c.186 others(66): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085048 | C | CCCAGCAC others(42): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0162 | 1 | 294 | 0.0034 | 49 | c.186 others(66): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085208 | T | TCACCCCC others(42): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0279 | 1 | 353 | 0.0028 | 49 | c.186 others(66): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085757 | C | CAGCACAG others(42): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0091 | 1 | 209 | 0.0048 | 49 | c.186 others(66): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGAM1_chr10_97421191_97438444 | 97425919 | G | GCCGCCCT others(42): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 389 | 0.0026 | 49 | c.-38 others(58): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 271 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425926 | G | GCCGCCCG others(42): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 203 | 0.0049 | 49 | c.-38 others(58): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425926 | G | GCCGCCCG others(42): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 203 | 0.0049 | 49 | c.-38 others(58): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425926 | G | GCCGCCCG others(42): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 NA19063.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0004 a0001c0005t0001g0003 |
2 | 204 | 0.0098 | 49 | c.-38 others(58): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425926 | G | GCCGCCCG others(42): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 203 | 0.0049 | 49 | c.-38 others(58): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | |||||||
PGBD2_chr1_248901235_248924146 | 248911714 | A | ACCTCCCG others(42): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0210 | 1 | 408 | 0.0025 | 49 | c.-47 others(66): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911740 | G | GCGGGGGG others(42): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0205 | 1 | 420 | 0.0024 | 49 | c.-47 others(66): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78425756 | C | CTTTTTTT others(42): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 5 | 0.2000 | 49 | c.*17 others(60): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1098 | chr17 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(42): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 117 | 0.0085 | 49 | c.118 others(68): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(42): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0209 | 1 | 117 | 0.0085 | 49 | c.118 others(68): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(42): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 117 | 0.0085 | 49 | c.118 others(68): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF11_chr13_49490953_49533976 | 49504591 | T | TGGGGGGT others(42): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(124): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0024 others(102): Show |
127 | 412 | 0.3083 | 49 | c.95- others(64): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PHF11_chr13_49490953_49533976 | 49504627 | C | CCGGGAGG others(42): Show |
intron_variant | MODIFIER | HG01192.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 a0001c0001t0001g0321 |
2 | 412 | 0.0049 | 49 | c.95- others(64): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PHKA1_chrX_72573814_72719306 | 72681993 | T | TCTGCCCG others(42): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0026 |
2 | 234 | 0.0085 | 49 | c.537 others(66): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
PHLDB2_chr3_111854265_111981517 | 111972575 | A | ATGTTTTC others(42): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 229 | 0.0044 | 49 | c.353 others(68): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(42): Show |
3_prime_UTR_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 | 1 | 41 | 0.0244 | 49 | c.*50 others(60): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011792 | T | TGGGGTGT others(42): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 a0001c0002t0001g0167 |
3 | 330 | 0.0091 | 49 | c.28- others(64): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011809 | T | TGGGGTGT others(42): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0183 | 1 | 327 | 0.0031 | 49 | c.28- others(64): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229184803 | G | GTATATAT others(42): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 62 | 0.0161 | 49 | c.31- others(66): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88789331 | A | ATAATTTC others(42): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0017 | a0003c0017t0006 | a0003c0017t0006g0016 | 1 | 280 | 0.0036 | 49 | c.-43 others(60): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 4112 | chr16 | TogoVar |