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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE6G_chr17_81645459_81661542 | 81652798 | TCGCGATC others(46): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(333): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(66): Show | 336 | 434 | 0.7742 | -53 | c.146 others(68): Show |
PDE6G | ENSG00000185527.12 | transcript | ENST00000331056.10 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10782060 | AATTCTAG others(46): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0016 | a0001c0003t0008g0022a0001c0003t0008g0252a0001c0003t0016g0297 | 4 | 342 | 0.0117 | -53 | c.*21 others(64): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1330 | chr2 | TogoVar | ||||||
PES1_chr22_30571625_30596910 | 30589688 | CACACAGC others(46): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02886.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0021a0002c0002t0003g0057a0002c0002t0003g0058others(1): Show | 7 | 432 | 0.0162 | -53 | c.25- others(66): Show |
PES1 | ENSG00000100029.18 | transcript | ENST00000354694.12 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7201307 | ATACACAT others(46): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0187 | 1 | 428 | 0.0023 | -53 | c.552 others(68): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIGL_chr17_16212210_16331411 | 16312089 | CCCCCCCA others(46): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01433.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124a0001c0001t0003g0132a0001c0001t0003g0133others(5): Show | 8 | 246 | 0.0325 | -53 | c.427 others(70): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIGM_chr1_160019953_160036990 | 160036878 | TGGTAAGA others(46): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 432 | 0.0023 | -53 | c.-51 others(64): Show |
PIGM | ENSG00000143315.8 | transcript | ENST00000368090.5 | protein_coding | 4889 | chr1 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631741 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 320 | 0.0031 | -53 | c.529 others(70): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PITPNA_chr17_1512718_1567792 | 1551005 | GTTGCGGG others(46): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(60): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(57): Show | 63 | 368 | 0.1712 | -53 | c.197 others(70): Show |
PITPNA | ENSG00000174238.16 | transcript | ENST00000313486.12 | protein_coding | 3/11 | chr17 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123027476 | GACTGGTA others(46): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0011 | 1 | 230 | 0.0044 | -53 | c.78+ others(68): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2128037 | CAGGGAGG others(46): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 216 | 0.0046 | -53 | c.215 others(70): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 1/45 | chr16 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51788711 | TACCTCAT others(46): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG02717.hp1 others(3): Show |
a0026a0028a0029others(3): Show | a0026c0073a0028c0071a0029c0070others(3): Show | a0026c0073t0005a0028c0071t0012a0029c0070t0008others(3): Show | a0026c0073t0005g0094a0028c0071t0012g0093a0029c0070t0008g0090others(3): Show | 6 | 134 | 0.0448 | -53 | c.844 others(72): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 53/66 | chr6 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402106 | CCCCCGAC others(46): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0051 | 1 | 216 | 0.0046 | -53 | c.173 others(70): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 402577 | CCCCGCTC others(46): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02027.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0004 | a0001c0001t0001g0066a0001c0005t0001g0090a0001c0005t0001g0091others(1): Show | 4 | 216 | 0.0185 | -53 | c.173 others(70): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLCB4_chr20_9064087_9485808 | 9168922 | CCAAGCAG others(46): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01175.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(23): Show | 26 | 140 | 0.1857 | -53 | c.-78 others(72): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298152 | TCTATCAC others(46): Show |
T | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0143 | 1 | 176 | 0.0057 | -53 | c.734 others(68): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 306222 | GCAGATTA others(46): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp2 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0051a0001c0003t0104 | a0001c0003t0051g0071a0001c0003t0104g0093 | 2 | 176 | 0.0114 | -53 | c.*68 others(64): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 2867 | chrX | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16884000 | TCTTTTTA others(46): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(45): Show |
a0001a0013a0014 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0021others(45): Show | 48 | 244 | 0.1967 | -53 | c.222 others(72): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101008 | AAATCCAT others(46): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0048 | a0001c0048t0013 | a0001c0048t0013g0055 | 1 | 210 | 0.0048 | -53 | c.45+ others(68): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 101498 | CCTGGGAA others(46): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0081 | a0001c0002t0081g0034 | 1 | 210 | 0.0048 | -53 | c.45+ others(68): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLXNA4_chr7_132118340_132581470 | 132563818 | CTCCTCCT others(46): Show |
C | intron_variant | MODIFIER | HG03831.hp2 HG03927.hp2 |
a0001a0004 | a0001c0031a0004c0015 | a0001c0031t0002a0004c0015t0001 | a0001c0031t0002g0083a0004c0015t0001g0084 | 2 | 88 | 0.0227 | -53 | c.-87 others(72): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137511126 | TGCCTGGG others(46): Show |
T | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 188 | 0.0053 | -53 | c.122 others(72): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 12/34 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137511174 | ACCAGCGC others(46): Show |
A | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 188 | 0.0053 | -53 | c.122 others(72): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 12/34 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137550712 | GCCGCTGG others(46): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03098.hp2 NA18522.hp1 |
a0001a0003a0013 | a0001c0047a0003c0058a0013c0023 | a0001c0047t0002a0003c0058t0001a0013c0023t0001 | a0001c0047t0002g0175a0003c0058t0001g0176a0013c0023t0001g0174 | 3 | 188 | 0.0160 | -53 | c.-56 others(62): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 311 | chr9 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75988712 | GGAAGGCC others(46): Show |
G | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02738.hp1 HG04204.hp2 others(2): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0001 | a0001c0004t0001g0231a0001c0004t0001g0264a0001c0006t0001g0184others(2): Show | 5 | 278 | 0.0180 | -53 | c.*22 others(64): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1858 | chr7 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809122 | GATAGATA others(46): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01106.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(18): Show | a0001c0001t0001g0053a0001c0001t0001g0147a0001c0001t0001g0240others(35): Show | 38 | 320 | 0.1188 | -53 | c.79- others(70): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149809179 | GATAGATA others(46): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01074.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0018a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0018a0001c0001t0001g0075a0001c0001t0001g0149others(17): Show | 20 | 320 | 0.0625 | -53 | c.79- others(70): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149809236 | GATAGATA others(46): Show |
G | intron_variant | MODIFIER | HG02523.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0003a0002c0008t0008 | a0001c0001t0003g0123a0002c0008t0008g0191 | 2 | 320 | 0.0063 | -53 | c.79- others(70): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPIAL4C_chr1_149578848_149589607 | 149583474 | GAAAGAAA others(46): Show |
G | upstream_gene_variant | MODIFIER | HG01516.hp1 HG02257.hp2 HG03516.hp2 others(3): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0005 | a0002c0002t0002a0003c0003t0002a0005c0005t0005 | a0002c0002t0002g0000a0003c0003t0002g0000a0005c0005t0005g0000 | 6 | 448 | 0.0134 | -53 | c.-42 others(62): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 373 | chr1 | TogoVar | ||||||
PPM1J_chr1_112704998_112720332 | 112720244 | GCTCCCTC others(46): Show |
G | upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | -53 | c.-49 others(64): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 4913 | chr1 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38895779 | TCTCCTCC others(46): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0184a0001c0001t0006g0194 | 2 | 244 | 0.0082 | -53 | c.467 others(67): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | chr20 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38895793 | CCTTCCTT others(46): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02280.hp1 NA18990.hp2 |
a0001a0003 | a0001c0002a0003c0010 | a0001c0002t0003a0001c0002t0004a0003c0010t0004 | a0001c0002t0003g0078a0001c0002t0004g0181a0003c0010t0004g0014 | 3 | 244 | 0.0123 | -53 | c.467 others(67): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38895901 | CCTTCCTT others(46): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0211 | 1 | 244 | 0.0041 | -53 | c.467 others(68): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38895928 | CCTTCCTT others(46): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0228 | 1 | 244 | 0.0041 | -53 | c.467 others(68): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP2R3B_chrX_328933_391907 | 343746 | GAGACGCG others(46): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0009 | 1 | 25 | 0.0400 | -53 | c.103 others(72): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46391946 | CTAGGGAA others(46): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0355a0001c0001t0003g0356a0001c0001t0003g0357others(7): Show | 10 | 394 | 0.0254 | -53 | c.*16 others(64): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 972 | chr19 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151841654 | TGATGGTA others(46): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(93): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0001g0029others(93): Show | 96 | 252 | 0.3810 | -53 | c.114 others(72): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151863004 | TGCTGGTA others(46): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 252 | 0.0040 | -53 | c.114 others(72): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744482 | TTTCTTTT others(46): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02698.hp1 NA19240.hp2 |
a0001 | a0001c0002a0001c0006a0001c0010 | a0001c0002t0001a0001c0006t0001a0001c0010t0001 | a0001c0002t0001g0054a0001c0006t0001g0048a0001c0010t0001g0129 | 3 | 168 | 0.0179 | -53 | c.348 others(72): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2122146 | TTAGGGTC others(46): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 286 | 0.0035 | -53 | c.335 others(72): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRPF6_chr20_63976132_64038100 | 64021645 | ATATGCAT others(46): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052 | 1 | 294 | 0.0034 | -53 | c.164 others(72): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PRPF6_chr20_63976132_64038100 | 64021883 | CGTGTCTG others(46): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 294 | 0.0034 | -53 | c.164 others(70): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PRPF8_chr17_1645629_1689867 | 1689454 | GGGGGCTG others(46): Show |
G | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 291 | 0.0034 | -53 | c.-47 others(64): Show |
PRPF8 | ENSG00000174231.18 | transcript | ENST00000304992.11 | protein_coding | 4588 | chr17 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 851270 | CCGACACA others(46): Show |
C | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 415 | 0.0024 | -53 | c.*33 others(64): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3096 | chr19 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 851473 | TGAGGCAG others(46): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0169 | 1 | 415 | 0.0024 | -53 | c.*35 others(64): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3299 | chr19 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865240 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0174 | 1 | 228 | 0.0044 | -53 | c.163 others(72): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865242 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0148 | 1 | 228 | 0.0044 | -53 | c.163 others(72): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSORS1C1_chr6_31109800_31145092 | 31132407 | AGCTACTC others(46): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp2 HG00741.hp2 others(16): Show |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0003 | a0004c0005t0001g0205a0004c0005t0003g0011a0004c0005t0003g0016others(8): Show | 19 | 449 | 0.0423 | -53 | c.13+ others(68): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PSPC1_chr13_19697500_19787945 | 19766011 | ATAGGAAA others(46): Show |
A | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 258 | 0.0039 | -53 | c.674 others(70): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 2/8 | chr13 | TogoVar | ||||||
PTGS1_chr9_122366024_122400703 | 122391309 | CATATACA others(46): Show |
C | intron_variant | MODIFIER | HG01109.hp1 NA19240.hp2 |
a0001 | a0001c0013 | a0001c0013t0010 | a0001c0013t0010g0136a0001c0013t0010g0215 | 2 | 332 | 0.0060 | -53 | c.144 others(70): Show |
PTGS1 | ENSG00000095303.17 | transcript | ENST00000362012.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PTP4A2_chr1_31901421_31943368 | 31908135 | TTATATTA others(46): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG01255.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0093a0001c0001t0094a0001c0001t0161 | a0001c0001t0093g0308a0001c0001t0094g0254a0001c0001t0161g0260 | 3 | 354 | 0.0085 | -53 | c.*66 others(62): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 664 | chr1 | TogoVar |