| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PLEKHF2_chr8_95128785_95161685 | 95133664 | CGCGAGGG others(34): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 384 | 0.0026 | -41 | c.-38 others(50): Show |
PLEKHF2 | ENSG00000175895.5 | transcript | ENST00000315367.4 | protein_coding | 120 | chr8 | TogoVar | ||||||
| PLEKHG3_chr14_64699424_64755249 | 64716481 | AACACACA others(34): Show |
A | intron_variant | MODIFIER | HG02622.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0072a0001c0002t0073 | a0001c0002t0072g0065a0001c0002t0073g0067 | 2 | 248 | 0.0081 | -41 | c.-39 others(60): Show |
PLEKHG3 | ENSG00000126822.18 | transcript | ENST00000247226.13 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PLEKHS1_chr10_113746682_113788429 | 113785331 | TATATATA others(34): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02896.hp2 HG02897.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0023a0002c0002t0002 | a0001c0001t0013g0056a0001c0001t0013g0057a0001c0001t0013g0140others(3): Show | 7 | 402 | 0.0174 | -41 | c.*45 others(52): Show |
PLEKHS1 | ENSG00000148735.16 | transcript | ENST00000694986.1 | protein_coding | 1903 | chr10 | TogoVar | ||||||
| PLGRKT_chr9_5352971_5442925 | 5424417 | TATAATAT others(34): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229a0001c0001t0001g0255 | 2 | 414 | 0.0048 | -41 | c.81+ others(56): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 3/5 | chr9 | TogoVar | ||||||
| PLOD3_chr7_101200984_101222581 | 101217002 | CAGGGTAG others(34): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 428 | 0.0023 | -41 | c.109 others(56): Show |
PLOD3 | ENSG00000106397.12 | transcript | ENST00000223127.8 | protein_coding | 1/18 | chr7 | TogoVar | ||||||
| PLXNA4_chr7_132118340_132581470 | 132188989 | GAAAGGAG others(34): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0015 | 1 | 88 | 0.0114 | -41 | c.285 others(60): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | ||||||
| PLXNB2_chr22_50269979_50312646 | 50285573 | AGCCGGCA others(34): Show |
A | intron_variant | MODIFIER | HG00621.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0075 | 1 | 302 | 0.0033 | -41 | c.208 others(58): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | ||||||
| PNMA8B_chr19_46486191_46500867 | 46488499 | TCATCCTG others(34): Show |
T | downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0000 | 1 | 426 | 0.0024 | -41 | c.*50 others(52): Show |
PNMA8B | ENSG00000204851.7 | transcript | ENST00000599531.2 | protein_coding | 2691 | chr19 | TogoVar | ||||||
| POF1B_chrX_85272396_85384665 | 85380006 | GCAAAGGT others(34): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0186a0001c0001t0003g0187a0001c0001t0013g0170others(7): Show | 11 | 227 | 0.0485 | -41 | c.-45 others(50): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 342 | chrX | TogoVar | ||||||
| POLRMT_chr19_612221_638537 | 620882 | TGGGGGCG others(34): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01109.hp1 HG01168.hp2 others(61): Show |
a0002a0003a0004others(6): Show | a0002c0003a0002c0006a0002c0013others(14): Show | a0002c0003t0001a0002c0006t0003a0002c0013t0002others(20): Show | a0002c0003t0001g0030a0002c0006t0003g0295a0002c0006t0003g0296others(61): Show | 64 | 422 | 0.1517 | -41 | c.264 others(58): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 10/20 | chr19 | TogoVar | ||||||
| POM121L12_chr7_53030633_53041925 | 53039390 | TGGAAACA others(34): Show |
T | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 1 | 432 | 0.0023 | -41 | c.*28 others(52): Show |
POM121L12 | ENSG00000221900.6 | transcript | ENST00000408890.6 | protein_coding | 2466 | chr7 | TogoVar | ||||||
| PPARGC1B_chr5_149725310_149860022 | 149809134 | GATAGATA others(34): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0283a0001c0001t0015g0180 | 2 | 320 | 0.0063 | -41 | c.79- others(58): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PPARGC1B_chr5_149725310_149860022 | 149809191 | GATAGATA others(34): Show |
G | intron_variant | MODIFIER | HG02165.hp1 HG03491.hp2 NA18522.hp1 others(1): Show |
a0001a0002a0014 | a0001c0001a0002c0014a0014c0029 | a0001c0001t0044a0002c0014t0005a0014c0029t0008 | a0001c0001t0044g0064a0002c0014t0005g0259a0002c0014t0005g0260others(1): Show | 4 | 320 | 0.0125 | -41 | c.79- others(58): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PPARGC1B_chr5_149725310_149860022 | 149809362 | GATAGATA others(34): Show |
G | intron_variant | MODIFIER | HG02293.hp2 HG02738.hp1 HG02965.hp2 others(1): Show |
a0001a0005 | a0001c0004a0001c0006a0005c0026 | a0001c0004t0006a0001c0006t0001a0005c0026t0034 | a0001c0004t0006g0113a0001c0004t0006g0193a0001c0006t0001g0099others(1): Show | 4 | 320 | 0.0125 | -41 | c.79- others(58): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PPARGC1B_chr5_149725310_149860022 | 149809440 | CATAGATA others(34): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0100 | 1 | 320 | 0.0031 | -41 | c.79- others(58): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PPIAL4A_chr1_120884771_120895530 | 120889446 | GAAAGAAA others(34): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01167.hp1 HG01169.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000 | 38 | 280 | 0.1357 | -41 | c.-37 others(50): Show |
PPIAL4A | ENSG00000263353.4 | transcript | ENST00000577856.3 | protein_coding | 324 | chr1 | TogoVar | ||||||
| PPM1H_chr12_62638994_62940150 | 62728682 | CCCTGAGC others(34): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0240 | 1 | 252 | 0.0040 | -41 | c.955 others(58): Show |
PPM1H | ENSG00000111110.12 | transcript | ENST00000228705.7 | protein_coding | 5/9 | chr12 | TogoVar | ||||||
| PPM1J_chr1_112704998_112720332 | 112706430 | TACACACA others(34): Show |
T | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 422 | 0.0024 | -41 | c.*36 others(52): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3567 | chr1 | TogoVar | ||||||
| PPP1R16A_chr8_144472982_144507121 | 144505665 | CCCCGCCG others(34): Show |
C | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 356 | 0.0028 | -41 | c.*37 others(52): Show |
PPP1R16A | ENSG00000160972.10 | transcript | ENST00000435887.2 | protein_coding | 3545 | chr8 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3114451 | ACACACAC others(34): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG03195.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0006a0001c0017 | a0001c0001t0014a0001c0006t0013a0001c0017t0054 | a0001c0001t0014g0132a0001c0006t0013g0133a0001c0017t0054g0134 | 3 | 210 | 0.0143 | -41 | c.37+ others(58): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRELID3B_chr20_59028145_59047786 | 59045057 | TAACTCTT others(34): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 412 | 0.0024 | -41 | c.-23 others(52): Show |
PRELID3B | ENSG00000101166.16 | transcript | ENST00000355937.9 | protein_coding | 2272 | chr20 | TogoVar | ||||||
| PREPL_chr2_44312607_44366494 | 44317667 | TATTTTCA others(34): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0287 | 1 | 382 | 0.0026 | -41 | c.*36 others(52): Show |
PREPL | ENSG00000138078.16 | transcript | ENST00000409411.6 | protein_coding | 14/14 | 3648 | chr2 | TogoVar | |||||
| PRKAR1A_chr17_68507430_68538431 | 68537244 | AAGCCAGT others(34): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 412 | 0.0024 | -41 | c.*67 others(52): Show |
PRKAR1A | ENSG00000108946.17 | transcript | ENST00000589228.6 | protein_coding | 3814 | chr17 | TogoVar | ||||||
| PRKCE_chr2_45646675_46192990 | 45744471 | TTCTTTCT others(34): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011 | a0001c0001t0002g0092a0001c0001t0004g0030a0001c0001t0004g0099others(1): Show | 4 | 168 | 0.0238 | -41 | c.348 others(60): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PRKCE_chr2_45646675_46192990 | 45744475 | TTCTTTCT others(34): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0009 | a0001c0009t0016 | a0001c0009t0016g0094 | 1 | 168 | 0.0060 | -41 | c.348 others(60): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PRKCSH_chr19_11430635_11455968 | 11434252 | TGGCTCAC others(34): Show |
T | upstream_gene_variant | MODIFIER | HG02602.hp1 HG03831.hp1 NA19080.hp2 |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0033a0006c0006t0002g0110 | 3 | 346 | 0.0087 | -41 | c.-15 others(52): Show |
PRKCSH | ENSG00000130175.10 | transcript | ENST00000677123.1 | protein_coding | 1382 | chr19 | TogoVar | ||||||
| PRMT3_chr11_20382716_20514338 | 20472617 | TTGGCCTG others(34): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00738.hp1 others(49): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0178a0001c0001t0001g0199others(48): Show | 52 | 380 | 0.1368 | -41 | c.134 others(60): Show |
PRMT3 | ENSG00000185238.13 | transcript | ENST00000331079.11 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162904 | TCCTCCTC others(34): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG01169.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0007 | a0001c0001t0001a0001c0008t0005a0005c0007t0002 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0063others(5): Show | 10 | 378 | 0.0265 | -41 | c.260 others(54): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113162926 | ATTCCTGT others(34): Show |
A | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 378 | 0.0027 | -41 | c.260 others(54): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PRRG3_chrX_151690458_151710924 | 151703877 | TTTTTTTT others(34): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0013 | 1 | 336 | 0.0030 | -41 | c.*28 others(52): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2846 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| PRRG3_chrX_151690458_151710924 | 151703879 | TTTTTTTT others(34): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0001c0001t0038a0001c0001t0059others(2): Show | a0001c0001t0020g0065a0001c0001t0038g0005a0001c0001t0059g0004others(2): Show | 6 | 336 | 0.0179 | -41 | c.*28 others(52): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2848 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| PRRG3_chrX_151690458_151710924 | 151703881 | TTTTTTTT others(34): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0001 | 1 | 336 | 0.0030 | -41 | c.*28 others(52): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2850 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| PSD3_chr8_18522303_19018703 | 18865256 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0030 | a0002c0030t0021 | a0002c0030t0021g0183 | 1 | 228 | 0.0044 | -41 | c.163 others(60): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
| PSEN1_chr14_73131507_73228691 | 73184316 | CCCTCCCG others(34): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0063a0001c0001t0001g0072 | 3 | 378 | 0.0079 | -41 | c.481 others(58): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PSEN1_chr14_73131507_73228691 | 73202438 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02155.hp1 NA18954.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123a0001c0001t0003g0124a0001c0001t0003g0125others(1): Show | 4 | 378 | 0.0106 | -41 | c.869 others(58): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PSKH2_chr8_86042109_86074668 | 86049709 | AGAAAGAA others(34): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0276 | 1 | 420 | 0.0024 | -41 | c.853 others(56): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
| PSMA7_chr20_62131733_62148394 | 62143081 | GCCCGCGC others(34): Show |
G | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 362 | 0.0028 | -41 | c.96+ others(53): Show |
PSMA7 | ENSG00000101182.15 | transcript | ENST00000370873.9 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
| PTCHD4_chr6_47851673_48116197 | 47931742 | ACAAGTGT others(34): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0033 | 1 | 182 | 0.0055 | -41 | c.899 others(60): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
| PTK7_chr6_43071314_43166715 | 43079410 | TGATCGTG others(34): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00639.hp2 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0013others(56): Show | 59 | 272 | 0.2169 | -41 | c.79+ others(56): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PTPN12_chr7_77532295_77645069 | 77641210 | ATTTTTTT others(34): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(43): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0105a0001c0001t0001g0109a0001c0001t0001g0127others(43): Show | 46 | 310 | 0.1484 | -41 | c.*19 others(52): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 1142 | chr7 | TogoVar | ||||||
| PTPN14_chr1_214343700_214556602 | 214436801 | AAAAAAAA others(34): Show |
A | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0131 | a0001c0001t0131g0219 | 1 | 272 | 0.0037 | -41 | c.344 others(60): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| PTPRR_chr12_70633079_70925738 | 70733441 | AAAAAGAA others(34): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG02486.hp2 others(8): Show |
a0001a0003a0014 | a0001c0001a0003c0003a0014c0017 | a0001c0001t0001a0003c0003t0001a0014c0017t0001 | a0001c0001t0001g0001a0001c0001t0001g0029a0001c0001t0001g0031others(8): Show | 11 | 204 | 0.0539 | -41 | c.100 others(62): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 6/13 | chr12 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42634026 | TATATATT others(34): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 HG03471.hp1 |
a0002a0004 | a0002c0001a0002c0004a0004c0020 | a0002c0001t0025a0002c0004t0002a0004c0020t0016 | a0002c0001t0025g0002a0002c0004t0002g0005a0004c0020t0016g0029 | 3 | 62 | 0.0484 | -41 | c.115 others(62): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 42907811 | CTGGAAGG others(34): Show |
C | intron_variant | MODIFIER | HG03471.hp2 HG03540.hp1 NA19240.hp1 others(1): Show |
a0001a0003 | a0001c0003a0001c0022a0001c0027others(1): Show | a0001c0003t0029a0001c0022t0021a0001c0027t0028others(1): Show | a0001c0003t0029g0048a0001c0022t0021g0045a0001c0027t0028g0049others(1): Show | 4 | 62 | 0.0645 | -41 | c.89- others(58): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
| PTTG1IP_chr21_44844598_44878690 | 44866382 | CACACACA others(34): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01952.hp2 HG02129.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0018others(1): Show | a0001c0001t0003g0152a0001c0001t0003g0216a0001c0001t0003g0217others(4): Show | 7 | 444 | 0.0158 | -41 | c.116 others(56): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 1/5 | chr21 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 30972260 | AAAGAAAA others(34): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 334 | 0.0030 | -41 | c.150 others(60): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
| PUS1_chr12_131924276_131950896 | 131934998 | GGAGAACA others(34): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01074.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0006a0001c0001t0001g0034a0001c0001t0001g0092others(4): Show | 16 | 382 | 0.0419 | -41 | c.441 others(58): Show |
PUS1 | ENSG00000177192.14 | transcript | ENST00000376649.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PVR_chr19_44638910_44671162 | 44645004 | AAAAATAT others(34): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0219 | 1 | 412 | 0.0024 | -41 | c.79+ others(54): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PXMP2_chr12_132682587_132709985 | 132692933 | TAGTGAGC others(34): Show |
T | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0157 | 1 | 350 | 0.0029 | -41 | c.236 others(58): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(34): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0022others(2): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0004others(77): Show | 81 | 358 | 0.2263 | -41 | c.119 others(58): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |