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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCBP3_chr21_45638725_45947450 | 45746672 | G | GGTGGTGT others(40): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02615.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0003g0029others(4): Show | 7 | 292 | 0.0240 | 47 | c.-16 others(66): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45746675 | G | GGTGTCAG others(40): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 292 | 0.0034 | 47 | c.-16 others(66): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45746805 | G | GCACACGG others(40): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217a0001c0001t0002g0218 | 2 | 292 | 0.0069 | 47 | c.-16 others(66): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92331291 | C | CTTCTTCT others(40): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0110 | 2 | 154 | 0.0130 | 47 | c.314 others(68): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5522241 | T | TTAACATA others(40): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 115 | 0.0087 | 47 | c.305 others(68): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCGF5_chr10_91215663_91289337 | 91238602 | T | TTTCTTTC others(40): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0200 | 1 | 318 | 0.0031 | 47 | c.113 others(64): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PCMT1_chr6_149744741_149816419 | 149762550 | T | TATATATA others(40): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0072 | 1 | 334 | 0.0030 | 47 | c.56- others(62): 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(40): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0033a0001c0001t0001g0052others(7): Show | 17 | 424 | 0.0401 | 47 | c.354 others(64): 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(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG03017.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0094others(5): Show | 10 | 424 | 0.0236 | 47 | c.354 others(64): 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(40): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 424 | 0.0024 | 47 | c.354 others(64): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
PCP4L1_chr1_161253745_161290450 | 161281492 | T | TGGGCGGC others(40): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01433.hp2 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043a0001c0001t0003g0116a0001c0001t0003g0131others(3): Show | 6 | 402 | 0.0149 | 47 | c.10- others(62): Show |
PCP4L1 | ENSG00000248485.2 | transcript | ENST00000504449.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PCSK6_chr15_101298933_101494707 | 101426740 | C | CGGCTGCA others(40): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18906.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0002t0005a0002c0008t0001 | a0001c0001t0002g0248a0001c0002t0005g0187a0002c0008t0001g0020 | 3 | 336 | 0.0089 | 47 | c.823 others(64): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 511336 | T | TGGCAGGG others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(25): Show | a0001c0001t0001g0005a0001c0001t0001g0166a0001c0001t0001g0189others(45): Show | 49 | 302 | 0.1623 | 47 | c.266 others(62): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 511336 | T | TGGCAGGG others(40): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0001t0048a0001c0001t0061others(1): Show | a0001c0001t0033g0154a0001c0001t0048g0009a0001c0001t0061g0020others(1): Show | 4 | 302 | 0.0133 | 47 | c.266 others(62): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 511336 | T | TGGCGGGG others(40): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01361.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0031a0001c0002t0035a0001c0002t0045others(3): Show | a0001c0002t0031g0178a0001c0002t0031g0179a0001c0002t0035g0152others(4): Show | 7 | 302 | 0.0232 | 47 | c.266 others(62): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 511336 | T | TGGCGGGG others(40): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0260 | 1 | 302 | 0.0033 | 47 | c.266 others(62): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 511383 | C | CGGGGGGA others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG02129.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0014a0001c0001t0095others(6): Show | a0001c0001t0007g0197a0001c0001t0007g0199a0001c0001t0014g0198others(7): Show | 10 | 302 | 0.0331 | 47 | c.266 others(62): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104084812 | T | TTATAAAA others(40): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0001 | a0001c0001t0010g0129a0001c0002t0001g0111 | 2 | 200 | 0.0100 | 47 | c.124 others(66): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285925 | T | TCCCAACC others(40): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG01346.hp2 |
a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0046a0008c0007t0001g0141 | 3 | 436 | 0.0069 | 47 | c.111 others(64): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDLIM1_chr10_95232572_95296003 | 95256976 | A | AGAAAGAA others(40): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0257a0001c0002t0002g0258a0001c0002t0002g0285others(1): Show | 4 | 338 | 0.0118 | 47 | c.533 others(64): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177486931 | C | CAGCCTGG others(40): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 | 1 | 440 | 0.0023 | 47 | c.105 others(66): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
PDPN_chr1_13578832_13622957 | 13588571 | T | TATATATA others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00738.hp1 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(61): Show | 69 | 446 | 0.1547 | 47 | c.67+ others(62): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDPN_chr1_13578832_13622957 | 13588612 | A | ATATATAA others(40): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0059 | a0001c0001t0001g0111a0001c0001t0059g0110 | 2 | 446 | 0.0045 | 47 | c.67+ others(62): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741151 | G | GGCGGGGG others(40): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0229 | 1 | 358 | 0.0028 | 47 | c.143 others(62): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741211 | C | CGGGGGGC others(40): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0028 | 1 | 358 | 0.0028 | 47 | c.143 others(62): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741211 | C | CGGGGGGG others(40): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0357 | 1 | 358 | 0.0028 | 47 | c.143 others(62): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741211 | C | CGGGGGGG others(40): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 358 | 0.0028 | 47 | c.143 others(62): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741280 | G | GGGGGGGC others(40): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 358 | 0.0028 | 47 | c.143 others(62): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7196626 | A | AATAATTA others(40): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01346.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0005 | a0001c0001t0005g0208a0002c0002t0005g0322 | 2 | 428 | 0.0047 | 47 | c.449 others(64): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7196653 | A | AATAATTA others(40): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0318 | 1 | 428 | 0.0023 | 47 | c.449 others(64): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7196680 | A | AATAATTA others(40): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0310 | 1 | 428 | 0.0023 | 47 | c.449 others(64): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7197365 | T | TATATGTC others(40): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0322 | 1 | 428 | 0.0023 | 47 | c.449 others(64): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085283 | C | CCCCCTCC others(40): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0258 | 1 | 402 | 0.0025 | 47 | c.186 others(64): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085308 | C | CCCCCTCC others(40): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(62): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0002g0266a0001c0001t0002g0298a0001c0001t0002g0338others(62): Show | 65 | 402 | 0.1617 | 47 | c.186 others(64): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085333 | C | CCCCCTCC others(40): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0316 | 1 | 402 | 0.0025 | 47 | c.186 others(64): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085455 | A | ACCCCTTC others(40): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 402 | 0.0025 | 47 | c.186 others(64): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085697 | C | CCCCTTCC others(40): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18950.hp1 |
a0001 | a0001c0002a0001c0039 | a0001c0002t0002a0001c0039t0005 | a0001c0002t0002g0345a0001c0039t0005g0372 | 2 | 402 | 0.0050 | 47 | c.186 others(64): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085757 | C | CAGCACAG others(40): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0033 | a0001c0033t0003 | a0001c0033t0003g0077 | 1 | 402 | 0.0025 | 47 | c.186 others(64): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3115259 | T | TGGGGTGA others(40): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0396 | 1 | 402 | 0.0025 | 47 | c.137 others(66): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3115284 | C | CGGAGGAC others(40): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02717.hp2 NA18612.hp1 |
a0001 | a0001c0002a0001c0026a0001c0029 | a0001c0002t0010a0001c0026t0001a0001c0029t0001 | a0001c0002t0010g0023a0001c0026t0001g0400a0001c0029t0001g0304 | 3 | 402 | 0.0075 | 47 | c.137 others(66): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3115374 | G | GCGGTGGA others(40): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0065 | a0001c0065t0001 | a0001c0065t0001g0165 | 1 | 402 | 0.0025 | 47 | c.137 others(66): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3115403 | G | GGTGAAGG others(40): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02257.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0011a0001c0014 | a0001c0011t0004a0001c0011t0006a0001c0014t0002others(2): Show | a0001c0011t0004g0196a0001c0011t0006g0188a0001c0014t0002g0272others(2): Show | 5 | 402 | 0.0124 | 47 | c.137 others(66): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3115430 | G | GACAGGAC others(40): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01243.hp1 others(12): Show |
a0001a0002 | a0001c0004a0001c0011a0001c0014others(5): Show | a0001c0004t0004a0001c0011t0004a0001c0014t0004others(6): Show | a0001c0004t0004g0234a0001c0011t0004g0391a0001c0014t0004g0162others(12): Show | 15 | 402 | 0.0373 | 47 | c.137 others(66): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3115561 | C | CGCCACGG others(40): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18906.hp1 NA19030.hp2 |
a0001 | a0001c0044a0001c0045a0001c0058 | a0001c0044t0009a0001c0045t0003a0001c0058t0010 | a0001c0044t0009g0181a0001c0045t0003g0364a0001c0058t0010g0215 | 3 | 402 | 0.0075 | 47 | c.137 others(66): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 13/21 | chr10 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39685945 | T | TGGGGGGG others(40): Show |
frameshift_variant | HIGH | HG00609.hp1 | a0008 | a0008c0005 | a0008c0005t0001 | a0008c0005t0001g0122 | 1 | 376 | 0.0027 | 47 | c.255 others(54): Show |
p.Lys others(4): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 2/8 | 298/2687 | 255/963 | 85/320 | chr17 | TogoVar | ||
PGBD5_chr1_230309490_230431332 | 230419276 | A | AGGTCATT others(40): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01069.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0006a0001c0001t0010a0001c0001t0017others(36): Show | a0001c0001t0006g0023a0001c0001t0010g0019a0001c0001t0010g0024others(54): Show | 57 | 288 | 0.1979 | 47 | c.331 others(64): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230419276 | A | AGGTCATT others(40): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01169.hp1 HG02735.hp2 others(4): Show |
a0002 | a0002c0003a0002c0012 | a0002c0003t0002a0002c0003t0013a0002c0003t0021others(2): Show | a0002c0003t0002g0237a0002c0003t0013g0241a0002c0003t0021g0236others(4): Show | 7 | 288 | 0.0243 | 47 | c.331 others(64): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18364103 | T | TCTTTCTT others(40): Show |
3_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0144 | a0001c0001t0144g0135 | 1 | 412 | 0.0024 | 47 | c.*53 others(56): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 532 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
PHF2_chr9_93571584_93684587 | 93587487 | T | TGATGGAG others(40): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01069.hp1 others(12): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0002 | a0001c0003t0003a0001c0004t0005a0001c0004t0010others(1): Show | a0001c0003t0003g0065a0001c0004t0005g0002a0001c0004t0005g0066others(9): Show | 15 | 350 | 0.0429 | 47 | c.98+ others(64): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHF2_chr9_93571584_93684587 | 93587487 | T | TGATGGAG others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(35): Show | a0001c0001t0001g0023a0001c0001t0001g0029a0001c0001t0001g0273others(264): Show | 275 | 350 | 0.7857 | 47 | c.98+ others(64): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |