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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRRG3_chrX_151690458_151710924 | 151703894 | TTTTTTTT others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0004 | a0004c0004t0098 | a0004c0004t0098g0070 | 1 | 336 | 0.0030 | -24 | c.*28 others(35): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2863 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PRRG3_chrX_151690458_151710924 | 151703902 | TTTTTTTT others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0018 | 1 | 336 | 0.0030 | -24 | c.*28 others(35): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2871 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PRRG4_chr11_32824927_32863120 | 32844467 | CTATTATT others(17): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0243 | 1 | 402 | 0.0025 | -24 | c.449 others(41): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRRT4_chr7_128345325_128366690 | 128346632 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0029 | 1 | 448 | 0.0022 | -24 | c.*42 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3692 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346636 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 NA18961.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0001 | a0001c0002t0003g0262a0002c0001t0001g0188 | 2 | 448 | 0.0045 | -24 | c.*41 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3688 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346638 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG03704.hp2 HG03834.hp1 HG04204.hp2 others(2): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0002c0015others(1): Show | a0001c0002t0002a0002c0001t0001a0002c0015t0002others(1): Show | a0001c0002t0002g0001a0002c0001t0001g0003a0002c0001t0001g0176others(2): Show | 5 | 448 | 0.0112 | -24 | c.*41 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3686 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346640 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02280.hp1 NA19067.hp1 |
a0001a0003a0004 | a0001c0003a0003c0004a0004c0006 | a0001c0003t0004a0003c0004t0001a0004c0006t0001 | a0001c0003t0004g0158a0003c0004t0001g0153a0004c0006t0001g0024 | 3 | 448 | 0.0067 | -24 | c.*41 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3684 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346642 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01515.hp1 HG03486.hp1 HG04115.hp1 others(3): Show |
a0001a0002a0004 | a0001c0003a0001c0005a0001c0008others(2): Show | a0001c0003t0003a0001c0003t0004a0001c0005t0008others(3): Show | a0001c0003t0003g0249a0001c0003t0004g0161a0001c0005t0008g0252others(3): Show | 6 | 448 | 0.0134 | -24 | c.*41 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3682 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346644 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp2 HG03098.hp1 NA18998.hp2 |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0003a0001c0003t0005a0002c0001t0001 | a0001c0002t0003g0259a0001c0003t0005g0082a0002c0001t0001g0018 | 3 | 448 | 0.0067 | -24 | c.*41 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3680 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346646 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02922.hp2 NA18939.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0002g0001a0001c0002t0002g0010a0001c0003t0001g0008others(2): Show | 5 | 448 | 0.0112 | -24 | c.*41 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3678 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346648 | CTCTCTAT others(17): Show |
C | downstream_gene_variant | MODIFIER | NA19004.hp1 NA19077.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0002 | a0001c0003t0001g0008a0002c0001t0002g0254 | 2 | 448 | 0.0045 | -24 | c.*41 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3676 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346650 | CTCTATAT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0073 | 1 | 448 | 0.0022 | -24 | c.*41 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3674 | chr7 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128346652 | CTATATAT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0202 | 1 | 448 | 0.0022 | -24 | c.*41 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3672 | chr7 | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129672882 | GTTCATTC others(17): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 358 | 0.0028 | -24 | c.259 others(41): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRSS22_chr16_2847730_2863170 | 2857212 | CTCCCCAG others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(98): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0078a0001c0001t0001g0081a0001c0001t0001g0084others(27): Show | 101 | 412 | 0.2452 | -24 | c.83- others(37): Show |
PRSS22 | ENSG00000005001.10 | transcript | ENST00000161006.8 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
PRSS57_chr19_680546_700452 | 682153 | TGTACGGA others(17): Show |
T | downstream_gene_variant | MODIFIER | NA18980.hp1 NA19012.hp2 NA20905.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0011a0002c0003t0001g0012a0002c0003t0001g0105 | 3 | 442 | 0.0068 | -24 | c.*35 others(35): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3392 | chr19 | TogoVar | ||||||
PRSS57_chr19_680546_700452 | 682259 | ATCTAGCC others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG02109.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0023 | 4 | 442 | 0.0091 | -24 | c.*34 others(35): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3286 | chr19 | TogoVar | ||||||
PRSS57_chr19_680546_700452 | 682297 | AGTATGGA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG01496.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0013 | a0001c0001t0001a0001c0002t0001a0005c0013t0001 | a0001c0001t0001g0171a0001c0001t0001g0180a0001c0001t0001g0181others(2): Show | 5 | 442 | 0.0113 | -24 | c.*33 others(35): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3248 | chr19 | TogoVar | ||||||
PRTFDC1_chr10_24843614_24957606 | 24880813 | CTCTTTCT others(17): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG03130.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0037a0001c0001t0001g0197a0001c0001t0011g0161 | 3 | 338 | 0.0089 | -24 | c.340 others(41): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55612697 | AATATATA others(17): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG02027.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0037a0001c0001t0041a0002c0002t0007others(3): Show | a0001c0001t0037g0169a0001c0001t0037g0172a0001c0001t0041g0135others(8): Show | 11 | 284 | 0.0387 | -24 | c.*72 others(35): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 20/20 | 7291 | chr15 | TogoVar | |||||
PRTG_chr15_55606544_55748152 | 55670902 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01106.hp2 others(7): Show |
a0001a0004a0009 | a0001c0001a0004c0005a0004c0006others(1): Show | a0001c0001t0023a0004c0005t0022a0004c0005t0045others(3): Show | a0001c0001t0023g0051a0001c0001t0023g0058a0004c0005t0022g0039others(7): Show | 10 | 284 | 0.0352 | -24 | c.204 others(43): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | ||||||
PRXL2B_chr1_2581777_2596468 | 2592283 | GCCCCCTC others(17): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0016 | 1 | 413 | 0.0024 | -24 | c.*28 others(35): Show |
PRXL2B | ENSG00000157870.17 | transcript | ENST00000419916.8 | protein_coding | 816 | chr1 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18594218 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00609.hp1 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0016others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0030others(78): Show | 81 | 228 | 0.3553 | -24 | c.248 others(43): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18594267 | ATTATATA others(17): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG01978.hp1 HG02257.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0006 | a0001c0001t0005a0003c0004t0001a0004c0006t0001others(1): Show | a0001c0001t0005g0059a0001c0001t0005g0097a0003c0004t0001g0043others(2): Show | 5 | 228 | 0.0219 | -24 | c.248 others(43): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865268 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0029 | a0002c0029t0017 | a0002c0029t0017g0176 | 1 | 228 | 0.0044 | -24 | c.163 others(43): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18916297 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | HG01258.hp2 HG01261.hp1 HG01496.hp1 others(6): Show |
a0002a0003a0006 | a0002c0003a0002c0005a0002c0011others(2): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0011others(6): Show | a0002c0003t0001g0104a0002c0003t0004g0219a0002c0003t0011g0115others(6): Show | 9 | 228 | 0.0395 | -24 | c.130 others(43): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18916333 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0137 | 1 | 228 | 0.0044 | -24 | c.130 others(43): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18991349 | CACATACA others(17): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG02040.hp1 HG03490.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001a0002c0003t0044 | a0001c0001t0001g0120a0002c0003t0001g0079a0002c0003t0044g0119 | 3 | 228 | 0.0132 | -24 | c.21+ others(41): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | ||||||
PSD4_chr2_113168971_113214391 | 113195534 | CGGATGGA others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0027a0001c0028others(10): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(57): Show | a0001c0003t0001g0009a0001c0003t0001g0014a0001c0003t0001g0047others(130): Show | 169 | 380 | 0.4447 | -24 | c.218 others(41): Show |
PSD4 | ENSG00000125637.16 | transcript | ENST00000245796.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSEN1_chr14_73131507_73228691 | 73134487 | CATTTATT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0248 | 1 | 378 | 0.0027 | -24 | c.-22 others(35): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 2019 | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73202444 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 378 | 0.0027 | -24 | c.869 others(41): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSEN2_chr1_226865616_226901098 | 226870318 | ACCCAAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 1 | 416 | 0.0024 | -24 | c.-68 others(33): Show |
PSEN2 | ENSG00000143801.18 | transcript | ENST00000366783.8 | protein_coding | 297 | chr1 | TogoVar | ||||||
PSG2_chr19_43059209_43087701 | 43081350 | GACACACA others(17): Show |
G | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 424 | 0.0024 | -24 | c.65- others(37): Show |
PSG2 | ENSG00000242221.9 | transcript | ENST00000406487.6 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
PSKH2_chr8_86042109_86074668 | 86049675 | GAAGAAAG others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00738.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0005t0008others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0235a0002c0002t0002g0021others(14): Show | 26 | 420 | 0.0619 | -24 | c.853 others(39): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
PSKH2_chr8_86042109_86074668 | 86049730 | GAAAGAAA others(17): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG03453.hp1 HG03491.hp1 others(2): Show |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0005a0004c0003t0001 | a0003c0004t0005g0264a0003c0004t0005g0277a0004c0003t0001g0081others(2): Show | 5 | 420 | 0.0119 | -24 | c.853 others(39): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
PSKH2_chr8_86042109_86074668 | 86049734 | GAAAGAAA others(17): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02976.hp1 HG03540.hp2 |
a0004a0007 | a0004c0003a0004c0013a0007c0009 | a0004c0003t0001a0004c0013t0001a0007c0009t0001 | a0004c0003t0001g0113a0004c0013t0001g0118a0007c0009t0001g0146 | 3 | 420 | 0.0071 | -24 | c.853 others(39): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
PSMA2_chr7_42911861_42937174 | 42930206 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 336 | 0.0030 | -24 | c.41+ others(39): Show |
PSMA2 | ENSG00000106588.12 | transcript | ENST00000223321.9 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
PSMA8_chr18_26128869_26198355 | 26163213 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 268 | 0.0037 | -24 | c.477 others(41): Show |
PSMA8 | ENSG00000154611.15 | transcript | ENST00000415576.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PSMB2_chr1_35594541_35646526 | 35624923 | TGGTGGTG others(17): Show |
T | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0269 | 1 | 300 | 0.0033 | -24 | c.285 others(41): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PSMB5_chr14_23020856_23039900 | 23036217 | TTGTGTGT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 404 | 0.0025 | -24 | c.-13 others(35): Show |
PSMB5 | ENSG00000100804.19 | transcript | ENST00000361611.11 | protein_coding | 1318 | chr14 | TogoVar | ||||||
PSMC1_chr14_90251553_90280429 | 90274787 | TACACACA others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0044a0001c0001t0045others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0036others(18): Show | 50 | 390 | 0.1282 | -24 | c.*24 others(35): Show |
PSMC1 | ENSG00000100764.14 | transcript | ENST00000261303.13 | protein_coding | 11/11 | 2409 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
PSMD13_chr11_231976_257984 | 245695 | CGTGTGTT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG01081.hp2 others(72): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011others(59): Show | 75 | 450 | 0.1667 | -24 | c.396 others(39): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PSMD13_chr11_231976_257984 | 249536 | TGGGTGCA others(17): Show |
T | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 450 | 0.0022 | -24 | c.774 others(39): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PSMD13_chr11_231976_257984 | 249597 | GGGGAGAG others(17): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp2 others(125): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0064a0001c0001t0001g0156a0001c0001t0001g0171others(100): Show | 128 | 450 | 0.2844 | -24 | c.774 others(39): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PSMD1_chr2_231051867_231177827 | 231165024 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 364 | 0.0028 | -24 | c.248 others(41): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD4_chr1_151249734_151272479 | 151253953 | CAAAAAAA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp1 HG03688.hp2 NA20805.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142a0001c0003t0001g0143a0001c0003t0001g0144 | 3 | 420 | 0.0071 | -24 | c.-82 others(33): Show |
PSMD4 | ENSG00000159352.16 | transcript | ENST00000368884.8 | protein_coding | 780 | chr1 | TogoVar | ||||||
PSMD9_chr12_121883790_121923297 | 121912006 | CTTATTTA others(17): Show |
C | intron_variant | MODIFIER | HG00597.hp1 NA18997.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0258a0002c0002t0002g0259 | 2 | 398 | 0.0050 | -24 | c.556 others(41): Show |
PSMD9 | ENSG00000110801.14 | transcript | ENST00000541212.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PSME4_chr2_53859069_53975993 | 53860624 | GGATATTG others(17): Show |
G | downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0317 | 1 | 384 | 0.0026 | -24 | c.*49 others(35): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 3444 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53940940 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(52): Show |
a0001a0002a0004others(1): Show | a0001c0005a0001c0009a0001c0017others(3): Show | a0001c0005t0001a0001c0005t0007a0001c0005t0009others(5): Show | a0001c0005t0001g0311a0001c0005t0001g0313a0001c0005t0001g0315others(52): Show | 55 | 384 | 0.1432 | -24 | c.501 others(39): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 3/46 | chr2 | TogoVar | ||||||
PSTPIP2_chr18_45978536_46077260 | 46038909 | GGCAGATC others(17): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0256a0002c0003t0002g0259 | 2 | 316 | 0.0063 | -24 | c.134 others(41): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 2/14 | chr18 | TogoVar |