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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRTN3_chr19_835999_853175 | 844220 | C | CCGCCTCT others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02886.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082a0002c0002t0001g0084a0002c0002t0001g0085others(1): Show | 4 | 415 | 0.0096 | 17 | c.369 others(32): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRTN3_chr19_835999_853175 | 844267 | G | GCGCGCCT others(10): Show |
intron_variant | MODIFIER | HG03927.hp2 NA19077.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074a0002c0002t0001g0127 | 2 | 415 | 0.0048 | 17 | c.369 others(32): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRUNE2_chr9_76606376_76911114 | 76774453 | T | TATTTATG others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0016 | a0016c0017 | a0016c0017t0009 | a0016c0017t0009g0175 | 1 | 240 | 0.0042 | 17 | c.756 others(36): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76774453 | T | TATTTATT others(10): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01256.hp2 HG01258.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0025others(3): Show | a0001c0001t0003a0002c0002t0001a0002c0025t0001others(4): Show | a0001c0001t0003g0192a0001c0001t0003g0217a0002c0002t0001g0046others(9): Show | 12 | 240 | 0.0500 | 17 | c.756 others(36): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76894716 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01106.hp1 HG02027.hp1 others(1): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0026 | a0001c0001t0001a0001c0001t0007a0004c0004t0001others(1): Show | a0001c0001t0001g0216a0001c0001t0007g0213a0004c0004t0001g0214others(1): Show | 4 | 240 | 0.0167 | 17 | c.36+ others(34): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
PRXL2A_chr10_80403551_80442115 | 80406763 | T | TATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0033 | 1 | 300 | 0.0033 | 17 | c.-18 others(28): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1787 | chr10 | TogoVar | ||||||
PRXL2A_chr10_80403551_80442115 | 80410481 | T | TGTGCAGT others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0173 | 1 | 300 | 0.0033 | 17 | c.-3+ others(32): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
PSAP_chr10_71811298_71856251 | 71853204 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG02280.hp1 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(1): Show | a0001c0001t0001g0101a0001c0001t0001g0227a0001c0001t0002g0010others(5): Show | 9 | 430 | 0.0209 | 17 | c.-19 others(28): Show |
PSAP | ENSG00000197746.15 | transcript | ENST00000394936.8 | protein_coding | 1954 | chr10 | TogoVar | ||||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18960.hp1 NA19079.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0166a0001c0001t0001g0340a0001c0002t0002g0086 | 3 | 416 | 0.0072 | 17 | c.870 others(34): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18747.hp2 NA18952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024a0001c0001t0001g0264a0001c0001t0001g0265others(1): Show | 5 | 416 | 0.0120 | 17 | c.870 others(34): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02074.hp1 HG02129.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0095a0001c0001t0001g0159a0001c0001t0001g0171others(7): Show | 10 | 416 | 0.0240 | 17 | c.870 others(34): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18524782 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0158 | 1 | 228 | 0.0044 | 17 | c.*10 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2520 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18594254 | T | TAATATAT others(10): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0028 | a0001c0001t0052a0001c0028t0006 | a0001c0001t0052g0203a0001c0028t0006g0195 | 2 | 228 | 0.0088 | 17 | c.248 others(36): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18949244 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 |
a0003 | a0003c0004a0003c0008 | a0003c0004t0004a0003c0008t0007 | a0003c0004t0004g0218a0003c0008t0007g0122 | 2 | 228 | 0.0088 | 17 | c.22- others(34): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73151895 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0310 | 1 | 378 | 0.0027 | 17 | c.87+ others(32): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73202462 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0243 | 1 | 378 | 0.0027 | 17 | c.869 others(34): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSEN1_chr14_73131507_73228691 | 73212088 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0136a0001c0001t0002g0141 | 2 | 378 | 0.0053 | 17 | c.112 others(34): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSG2_chr19_43059209_43087701 | 43082913 | A | ACACACAC others(10): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 17 | c.-34 others(26): Show |
PSG2 | ENSG00000242221.9 | transcript | ENST00000406487.6 | protein_coding | 213 | chr19 | TogoVar | ||||||
PSG4_chr19_43187702_43210638 | 43200898 | A | ACTTTTGA others(10): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show |
a0002a0014a0018others(1): Show | a0002c0002a0014c0020a0018c0038others(1): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0017others(4): Show | a0002c0002t0003g0001a0002c0002t0003g0021a0002c0002t0003g0162others(22): Show | 42 | 300 | 0.1400 | 17 | c.431 others(34): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG4_chr19_43187702_43210638 | 43203254 | C | CTCCCAAG others(10): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show |
a0002a0014a0018others(1): Show | a0002c0002a0014c0020a0018c0038others(1): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0017others(4): Show | a0002c0002t0003g0001a0002c0002t0003g0021a0002c0002t0003g0162others(22): Show | 42 | 300 | 0.1400 | 17 | c.430 others(32): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG4_chr19_43187702_43210638 | 43205111 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 |
a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0027 | 2 | 300 | 0.0067 | 17 | c.64+ others(30): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
PSG5_chr19_43162743_43191536 | 43182705 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03834.hp2 NA18956.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0164a0001c0001t0001g0165a0004c0004t0003g0100 | 3 | 430 | 0.0070 | 17 | c.430 others(34): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 NA19011.hp2 NA19079.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0174a0001c0001t0001g0243a0001c0001t0001g0310others(1): Show | 4 | 416 | 0.0096 | 17 | c.430 others(34): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02273.hp1 NA19091.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0003 | a0001c0002t0002g0108a0002c0003t0003g0321 | 2 | 416 | 0.0048 | 17 | c.430 others(34): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03540.hp2 NA18965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0285a0001c0002t0002g0106 | 2 | 416 | 0.0048 | 17 | c.430 others(34): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0212 | 1 | 416 | 0.0024 | 17 | c.430 others(34): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 416 | 0.0024 | 17 | c.430 others(34): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATTTTT others(10): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18970.hp2 NA18988.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0002 | a0001c0002t0002g0088a0001c0002t0002g0120a0001c0005t0002g0113 | 3 | 416 | 0.0072 | 17 | c.430 others(34): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933308 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02071.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0033a0001c0001t0001g0213a0001c0001t0001g0214others(2): Show | 6 | 416 | 0.0144 | 17 | c.430 others(34): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG8_chr19_42749233_42770678 | 42752943 | G | GGGTTGAG others(10): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00738.hp2 others(22): Show |
a0003a0009a0011others(1): Show | a0003c0003a0003c0013a0003c0031others(3): Show | a0003c0003t0001a0003c0013t0001a0003c0031t0001others(3): Show | a0003c0003t0001g0008a0003c0003t0001g0024a0003c0003t0001g0158others(8): Show | 25 | 438 | 0.0571 | 17 | c.*13 others(28): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 1289 | chr19 | TogoVar | ||||||
PSKH2_chr8_86042109_86074668 | 86057314 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0267 | 1 | 420 | 0.0024 | 17 | c.852 others(34): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
PSMA1_chr11_14499876_14525386 | 14508561 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG02273.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0114a0001c0001t0001g0121others(1): Show | 6 | 412 | 0.0146 | 17 | c.625 others(32): Show |
PSMA1 | ENSG00000129084.18 | transcript | ENST00000396394.7 | protein_coding | 8/9 | chr11 | TogoVar | ||||||
PSMA2_chr7_42911861_42937174 | 42912007 | C | CGCTCGAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 2 | 336 | 0.0060 | 17 | c.*55 others(28): Show |
PSMA2 | ENSG00000106588.12 | transcript | ENST00000223321.9 | protein_coding | 4853 | chr7 | TogoVar | ||||||
PSMA6_chr14_35287382_35322493 | 35299327 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01109.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020a0001c0001t0001g0032a0001c0001t0001g0046others(10): Show | 15 | 380 | 0.0395 | 17 | c.76+ others(32): Show |
PSMA6 | ENSG00000100902.11 | transcript | ENST00000261479.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMA7_chr20_62131733_62148394 | 62146605 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG02280.hp2 HG02922.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006a0001c0002t0002g0007a0001c0002t0002g0012 | 8 | 362 | 0.0221 | 17 | c.-33 others(28): Show |
PSMA7 | ENSG00000101182.15 | transcript | ENST00000370873.9 | protein_coding | 3212 | chr20 | TogoVar | ||||||
PSMB2_chr1_35594541_35646526 | 35628596 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 NA18970.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064a0001c0001t0002g0065a0001c0001t0002g0099 | 3 | 300 | 0.0100 | 17 | c.285 others(34): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PSMB2_chr1_35594541_35646526 | 35628596 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02976.hp1 HG06807.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0023a0001c0001t0002g0058a0001c0001t0002g0068others(1): Show | 4 | 300 | 0.0133 | 17 | c.285 others(34): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PSMB2_chr1_35594541_35646526 | 35628596 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 300 | 0.0033 | 17 | c.285 others(34): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PSMB5_chr14_23020856_23039900 | 23025672 | T | TGCCTCTC others(10): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 404 | 0.0074 | 17 | c.*40 others(26): Show |
PSMB5 | ENSG00000100804.19 | transcript | ENST00000361611.11 | protein_coding | 183 | chr14 | TogoVar | ||||||
PSMC2_chr7_103342643_103374395 | 103364984 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02165.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0112a0001c0001t0002g0192 | 2 | 382 | 0.0052 | 17 | c.756 others(32): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
PSMD11_chr17_32439510_32488319 | 32465777 | C | CTGAGCTC others(10): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0085 | 1 | 290 | 0.0035 | 17 | c.448 others(34): Show |
PSMD11 | ENSG00000108671.11 | transcript | ENST00000261712.8 | protein_coding | 5/13 | chr17 | TogoVar | ||||||
PSMD13_chr11_231976_257984 | 240101 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02015.hp1 NA19009.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 2 | 450 | 0.0044 | 17 | c.174 others(34): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTGT others(10): Show |
intron_variant | MODIFIER | HG02040.hp2 NA19004.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0207a0001c0001t0001g0208 | 3 | 268 | 0.0112 | 17 | c.571 others(34): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01192.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0206a0001c0001t0001g0209others(12): Show | 16 | 268 | 0.0597 | 17 | c.571 others(34): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD1_chr2_231051867_231177827 | 231065261 | G | GTTTTTTG others(10): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 364 | 0.0028 | 17 | c.305 others(34): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD4_chr1_151249734_151272479 | 151251260 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01358.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(25): Show | 33 | 420 | 0.0786 | 17 | c.-35 others(28): Show |
PSMD4 | ENSG00000159352.16 | transcript | ENST00000368884.8 | protein_coding | 3473 | chr1 | TogoVar | ||||||
PSMD9_chr12_121883790_121923297 | 121901666 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0234 | 1 | 398 | 0.0025 | 17 | c.454 others(34): Show |
PSMD9 | ENSG00000110801.14 | transcript | ENST00000541212.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PSMD9_chr12_121883790_121923297 | 121904639 | T | TTATTATT others(10): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 398 | 0.0025 | 17 | c.555 others(34): Show |
PSMD9 | ENSG00000110801.14 | transcript | ENST00000541212.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PSME4_chr2_53859069_53975993 | 53873238 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02145.hp1 HG02683.hp2 others(6): Show |
a0001a0010 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0003a0001c0005t0001a0001c0005t0007others(4): Show | a0001c0001t0003g0204a0001c0005t0001g0311a0001c0005t0001g0319others(6): Show | 9 | 384 | 0.0234 | 17 | c.510 others(36): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 43/46 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53873243 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0009 | a0001c0009t0013 | a0001c0009t0013g0292 | 1 | 384 | 0.0026 | 17 | c.510 others(36): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 43/46 | chr2 | TogoVar |