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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFA_chr7_492258_524846 | 511336 | T | TGGCGGGG others(40): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01361.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0022a0001c0002t0043others(2): Show | a0001c0002t0011g0152 a0001c0002t0022g0005 a0001c0002t0022g0178 others(3): Show |
7 | 92 | 0.0761 | 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 | a0001c0001t0011 | a0001c0001t0011g0257 | 1 | 86 | 0.0116 | 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 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(6): Show | a0001c0001t0001g0227 a0001c0001t0008g0194 a0001c0001t0009g0195 others(7): Show |
10 | 293 | 0.0341 | 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 | a0001c0001t0010g0129 a0001c0002t0001g0111 |
2 | 198 | 0.0101 | 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 |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0034 a0007c0007t0001g0080 |
3 | 408 | 0.0074 | 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 | a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0284 others(1): Show |
4 | 336 | 0.0119 | 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 | a0001c0002t0001g0155 | 1 | 32 | 0.0313 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(61): Show |
69 | 443 | 0.1558 | 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 | a0001c0001t0001g0116 a0001c0001t0059g0115 |
2 | 444 | 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 | a0001c0003t0008g0231 | 1 | 305 | 0.0033 | 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 | a0001c0002t0003g0036 | 1 | 278 | 0.0036 | 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 | a0001c0001t0007g0347 | 1 | 278 | 0.0036 | 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 | a0001c0001t0001g0160 | 1 | 278 | 0.0036 | 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 | a0001c0001t0002g0109 | 1 | 299 | 0.0033 | 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 | a0001c0001t0005g0199 a0002c0002t0005g0287 |
2 | 426 | 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 | a0002c0002t0005g0289 | 1 | 426 | 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 | a0002c0002t0005g0288 | 1 | 426 | 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 | a0002c0002t0005g0287 | 1 | 406 | 0.0025 | 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 | a0001c0009t0001g0259 | 1 | 246 | 0.0041 | 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 |
a0001a0008a0010 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0002g0267 a0001c0001t0002g0296 a0001c0001t0002g0337 others(61): Show |
65 | 356 | 0.1826 | 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 | a0001c0003t0001g0314 | 1 | 369 | 0.0027 | 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 | a0001c0002t0002g0030 | 1 | 377 | 0.0027 | 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 | a0001c0002t0002g0344 a0001c0039t0005g0371 |
2 | 391 | 0.0051 | 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 | 209 | 0.0048 | 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 | a0001c0017t0010 | a0001c0017t0010g0395 | 1 | 276 | 0.0036 | 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 | a0001c0002t0009a0001c0026t0001a0001c0029t0001 | a0001c0002t0009g0024 a0001c0026t0001g0399 a0001c0029t0001g0302 |
3 | 386 | 0.0078 | 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 | a0001c0065t0001g0166 | 1 | 397 | 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 | a0001c0011t0004g0197 a0001c0011t0006g0189 a0001c0014t0002g0270 others(2): Show |
5 | 383 | 0.0131 | 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 | a0001c0004t0004g0235 a0001c0011t0004g0390 a0001c0014t0004g0163 others(12): Show |
15 | 389 | 0.0386 | 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 | a0001c0044t0001a0001c0045t0003a0001c0058t0009 | a0001c0044t0001g0185 a0001c0045t0003g0363 a0001c0058t0009g0214 |
3 | 400 | 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 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0122 | 1 | 374 | 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 | a0001c0001t0005a0001c0001t0007a0001c0001t0012others(27): Show | a0001c0001t0005g0022 a0001c0001t0007g0018 a0001c0001t0007g0023 others(53): Show |
57 | 279 | 0.2043 | 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 | a0002c0003t0002a0002c0003t0014a0002c0003t0023others(2): Show | a0002c0003t0002g0236 a0002c0003t0014g0240 a0002c0003t0023g0235 others(4): Show |
7 | 229 | 0.0306 | 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 | a0001c0001t0080 | a0001c0001t0080g0130 | 1 | 296 | 0.0034 | 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(11): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0002 | a0001c0003t0003a0001c0004t0005a0001c0004t0010others(1): Show | a0001c0003t0003g0056 a0001c0004t0005g0003 a0001c0004t0005g0057 others(9): Show |
14 | 73 | 0.1918 | 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 | a0001c0001t0001g0019 a0001c0001t0001g0271 a0001c0001t0001g0272 others(263): Show |
275 | 334 | 0.8234 | 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 | 93587521 | A | AGTCCCAG others(40): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03927.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0223 a0002c0002t0001g0224 |
2 | 348 | 0.0057 | 47 | c.98+ others(64): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PHKA1_chrX_72573814_72719306 | 72681897 | G | GGGGGGTC others(40): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 231 | 0.0043 | 47 | c.537 others(64): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
PHLDB2_chr3_111854265_111981517 | 111866014 | A | ATTTTTTT others(40): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0210 | 1 | 27 | 0.0370 | 47 | c.-15 others(64): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 589968 | A | AATGTCTG others(40): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0020 | a0003c0020t0006 | a0003c0020t0006g0248 | 1 | 266 | 0.0038 | 47 | c.421 others(64): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 4/17 | chr11 | TogoVar | |||||||
PHTF2_chr7_77793773_77962225 | 77938557 | C | CGTCTCTA others(40): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0306 | 1 | 312 | 0.0032 | 47 | c.136 others(64): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4012007 | T | TGTGGGGT others(40): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02280.hp2 others(18): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0004a0001c0004t0008others(2): Show | a0001c0004t0003g0007 a0001c0004t0003g0235 a0001c0004t0003g0236 others(15): Show |
21 | 325 | 0.0646 | 47 | c.28- others(60): 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(40): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02965.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0002g0098 a0001c0001t0002g0172 others(1): Show |
4 | 65 | 0.0615 | 47 | c.31- others(64): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886487 | C | CATATATA others(40): Show |
intron_variant | MODIFIER | HG03017.hp2 NA20805.hp1 |
a0001a0012 | a0001c0088a0012c0079 | a0001c0088t0001a0012c0079t0002 | a0001c0088t0001g0123 a0012c0079t0002g0125 |
2 | 6 | 0.3333 | 47 | c.330 others(66): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34623256 | A | AACAAGTG others(40): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 a0001c0001t0001g0281 |
2 | 318 | 0.0063 | 47 | c.530 others(64): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(40): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 91 | 0.0110 | 47 | c.*18 others(56): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIWIL2_chr8_22270316_22362568 | 22290974 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 1 | 285 | 0.0035 | 47 | c.118 others(64): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104211 | A | AAGGGGGA others(40): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0032 | a0006c0032t0016 | a0006c0032t0016g0080 | 1 | 190 | 0.0053 | 47 | c.816 others(64): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314991 | G | GGAAGGGA others(40): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 187 | 0.0053 | 47 | c.349 others(66): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109380202 | A | ATCTCAGC others(40): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0064 | a0064c0060 | a0064c0060t0005 | a0064c0060t0005g0036 | 1 | 280 | 0.0036 | 47 | c.164 others(64): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |