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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ORM1_chr9_114318098_114331479 | 114323116 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18976.hp1 NA19005.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 | 2 | 464 | 0.0043 | 0 | c.-18 others(3): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
ORMDL2_chr12_55813041_55826879 | 55818094 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0001 | 1 | 418 | 0.0024 | 0 | c.-20 others(3): Show |
ORMDL2 | ENSG00000123353.10 | transcript | ENST00000243045.10 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
OSBPL3_chr7_24791540_24985178 | 24980070 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03209.hp2 HG03225.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0324a0001c0001t0008g0325a0001c0001t0008g0326 | 3 | 326 | 0.0092 | 0 | c.-33 others(4): Show |
OSBPL3 | ENSG00000070882.13 | transcript | ENST00000313367.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
OSBPL6_chr2_178189512_178407893 | 178194574 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01358.hp2 HG01978.hp1 HG03942.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0034a0001c0001t0088a0002c0003t0033 | a0001c0001t0034g0004a0001c0001t0034g0005a0001c0001t0088g0006others(2): Show | 5 | 200 | 0.0250 | 0 | c.-45 others(4): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 1/25 | chr2 | TogoVar | ||||||
OSBPL8_chr12_76346797_76564771 | 76559594 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00423.hp2 HG00738.hp2 HG01069.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0030a0001c0001t0031others(2): Show | a0001c0001t0005g0208a0001c0001t0005g0209a0001c0001t0005g0210others(21): Show | 24 | 238 | 0.1008 | 0 | c.-26 others(4): Show |
OSBPL8 | ENSG00000091039.17 | transcript | ENST00000261183.8 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
OSBPL8_chr12_76346797_76564771 | 76559638 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0238 | 1 | 238 | 0.0042 | 0 | c.-30 others(4): Show |
OSBPL8 | ENSG00000091039.17 | transcript | ENST00000261183.8 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
OSBP_chr11_59569398_59620774 | 59615735 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01261.hp2 NA20300.hp1 |
a0002 | a0002c0005 | a0002c0005t0012 | a0002c0005t0012g0264a0002c0005t0012g0265 | 2 | 320 | 0.0063 | 0 | c.-71 others(3): Show |
OSBP | ENSG00000110048.12 | transcript | ENST00000263847.6 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83953280 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(204): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(141): Show | 207 | 350 | 0.5914 | 0 | c.-12 others(4): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
OSR1_chr2_19346485_19363623 | 19358537 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0083 | 1 | 422 | 0.0024 | 0 | c.-22 others(4): Show |
OSR1 | ENSG00000143867.7 | transcript | ENST00000272223.3 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
OSR1_chr2_19346485_19363623 | 19358607 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18953.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034 | 2 | 422 | 0.0047 | 0 | c.-29 others(4): Show |
OSR1 | ENSG00000143867.7 | transcript | ENST00000272223.3 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
OSR2_chr8_98939442_98957100 | 98944456 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03453.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0011 | 2 | 298 | 0.0067 | 0 | c.-48 others(4): Show |
OSR2 | ENSG00000164920.10 | transcript | ENST00000297565.9 | protein_coding | 1/4 | chr8 | TogoVar | ||||||
OTC_chrX_38347604_38426446 | 38352649 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 308 | 0.0033 | 0 | c.-48 others(3): Show |
OTC | ENSG00000036473.8 | transcript | ENST00000039007.5 | protein_coding | 1/10 | chrX | TogoVar | ||||||
OTOF_chr2_26452203_26483124 | 26478040 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(261): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(42): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(175): Show | 264 | 330 | 0.8000 | 0 | c.-22 others(4): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 1/29 | chr2 | TogoVar | ||||||
OTOF_chr2_26452203_26563756 | 26558750 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02300.hp2 | a0001 | a0001c0014 | a0001c0014t0022 | a0001c0014t0022g0277 | 1 | 284 | 0.0035 | 0 | c.-17 others(4): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 1/47 | chr2 | TogoVar | ||||||
OTOS_chr2_240134026_240145658 | 240140390 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01243.hp2 HG02258.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0012a0001c0001t0007g0019 | 8 | 436 | 0.0184 | 0 | c.-64 others(3): Show |
OTOS | ENSG00000178602.8 | transcript | ENST00000319460.2 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
OTUB2_chr14_94021340_94053930 | 94026436 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0155 | 1 | 395 | 0.0025 | 0 | c.-10 others(4): Show |
OTUB2 | ENSG00000089723.10 | transcript | ENST00000203664.10 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
OTUD1_chr10_23434075_23447377 | 23439287 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02735.hp2 HG03688.hp2 HG03942.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 4 | 434 | 0.0092 | 0 | c.-17 others(4): Show |
OTUD1 | ENSG00000165312.7 | transcript | ENST00000376495.5 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
OTUD1_chr10_23434075_23447377 | 23439371 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0000 | 1 | 434 | 0.0023 | 0 | c.-87 others(3): Show |
OTUD1 | ENSG00000165312.7 | transcript | ENST00000376495.5 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
OTULIN_chr5_14659718_14704850 | 14664724 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18961.hp1 NA18983.hp1 NA19001.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0061 | a0001c0001t0007g0012a0001c0001t0007g0026a0001c0001t0007g0058others(2): Show | 10 | 354 | 0.0283 | 0 | c.-10 others(4): Show |
OTULIN | ENSG00000154124.6 | transcript | ENST00000284274.5 | protein_coding | 1/7 | chr5 | TogoVar | ||||||
OTX2_chr14_56794905_56815479 | 56810380 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0088 | 1 | 404 | 0.0025 | 0 | c.-18 others(4): Show |
OTX2 | ENSG00000165588.19 | transcript | ENST00000672264.2 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
OVOL1_chr11_65782063_65802214 | 65787369 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00438.hp1 HG00733.hp1 HG01192.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017a0001c0001t0031 | a0001c0001t0007g0002a0001c0001t0007g0005a0001c0001t0007g0077others(2): Show | 17 | 444 | 0.0383 | 0 | c.-5C others(2): Show |
OVOL1 | ENSG00000172818.10 | transcript | ENST00000335987.8 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
OVOL3_chr19_36106143_36118711 | 36111195 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp2 HG00544.hp1 HG00544.hp2 others(57): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002a0001c0002t0002g0018 | 60 | 450 | 0.1333 | 0 | c.-8C others(2): Show |
OVOL3 | ENSG00000105261.8 | transcript | ENST00000633214.2 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
OXCT2_chr1_39764523_39776348 | 39771309 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00609.hp1 HG00621.hp1 HG00673.hp2 others(37): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0011others(1): Show | a0001c0001t0003a0002c0002t0003a0008c0011t0003others(1): Show | a0001c0001t0003g0000a0002c0002t0003g0000a0008c0011t0003g0000others(1): Show | 40 | 454 | 0.0881 | 0 | c.-54 others(3): Show |
OXCT2 | ENSG00000198754.5 | transcript | ENST00000327582.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
OXGR1_chr13_96980713_96999476 | 96992475 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0090 | 1 | 462 | 0.0022 | 0 | c.-18 others(4): Show |
OXGR1 | ENSG00000165621.9 | transcript | ENST00000541038.2 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
OXGR1_chr13_96980713_96999476 | 96992509 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01256.hp2 HG01257.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0044 | 2 | 462 | 0.0043 | 0 | c.-21 others(4): Show |
OXGR1 | ENSG00000165621.9 | transcript | ENST00000541038.2 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
OXGR1_chr13_96980713_96999476 | 96992554 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0091 | 1 | 462 | 0.0022 | 0 | c.-25 others(4): Show |
OXGR1 | ENSG00000165621.9 | transcript | ENST00000541038.2 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
OXSR1_chr3_38160537_38260484 | 38165648 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0080 | 1 | 248 | 0.0040 | 0 | c.-22 others(4): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 1/18 | chr3 | TogoVar | ||||||
OXSR1_chr3_38160537_38260484 | 38165683 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02630.hp1 HG02965.hp1 HG03130.hp2 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0040a0002c0002t0007g0179a0002c0002t0007g0180 | 3 | 248 | 0.0121 | 0 | c.-19 others(4): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 1/18 | chr3 | TogoVar | ||||||
OXTR_chr3_8745381_8774613 | 8769543 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01069.hp1 HG01070.hp2 HG01358.hp2 others(47): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0012others(1): Show | a0001c0001t0004a0001c0004t0004a0001c0004t0013others(13): Show | a0001c0001t0004g0071a0001c0004t0004g0017a0001c0004t0004g0032others(37): Show | 50 | 474 | 0.1055 | 0 | c.-55 others(4): Show |
OXTR | ENSG00000180914.11 | transcript | ENST00000316793.8 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
P2RX1_chr17_3891592_3921465 | 3916354 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0302 | 1 | 378 | 0.0027 | 0 | c.-12 others(4): Show |
P2RX1 | ENSG00000108405.4 | transcript | ENST00000225538.4 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
P2RX3_chr11_57333352_57377396 | 57338462 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0042 | 1 | 354 | 0.0028 | 0 | c.-89 others(3): Show |
P2RX3 | ENSG00000109991.10 | transcript | ENST00000263314.3 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151340653 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(324): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0013others(281): Show | 327 | 396 | 0.8258 | 0 | c.-72 others(3): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
P2RY14_chr3_151207117_151283542 | 151219558 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01069.hp2 HG02055.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016 | a0001c0001t0010g0032a0001c0001t0010g0033a0001c0001t0010g0040others(1): Show | 4 | 404 | 0.0099 | 0 | c.-48 others(3): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1537018 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02451.hp2 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0012 | a0001c0003t0011g0002a0001c0003t0012g0001 | 2 | 114 | 0.0175 | 0 | c.-12 others(4): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/2 | chrX | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73096818 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(56): Show | 59 | 234 | 0.2521 | 0 | c.-85 others(3): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/15 | chr10 | TogoVar | ||||||
PABPC4L_chr4_134191333_134206789 | 134201749 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp1 HG02132.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0016a0001c0001t0014g0043 | 4 | 364 | 0.0110 | 0 | c.-25 others(4): Show |
PABPC4L | ENSG00000254535.4 | transcript | ENST00000421491.4 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
PABPC4_chr1_39555816_39581790 | 39576399 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0109 | 1 | 374 | 0.0027 | 0 | c.-44 others(4): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
PACRGL_chr4_20695458_20737557 | 20700480 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp2 HG00408.hp1 HG00609.hp1 others(36): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0005a0001c0001t0007a0001c0001t0029others(5): Show | a0001c0001t0005g0004a0001c0001t0005g0031a0001c0001t0005g0055others(19): Show | 39 | 412 | 0.0947 | 0 | c.-32 others(4): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
PACRGL_chr4_20695458_20737557 | 20700623 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00280.hp2 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0027a0001c0001t0028 | a0001c0001t0008g0139a0001c0001t0008g0140a0001c0001t0008g0141others(4): Show | 9 | 412 | 0.0218 | 0 | c.-18 others(4): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162728210 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016 | a0001c0001t0015g0062a0001c0001t0016g0059 | 2 | 130 | 0.0154 | 0 | c.-26 others(3): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66070457 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01361.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0072a0001c0001t0007g0075 | 2 | 322 | 0.0062 | 0 | c.-30 others(3): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 42912106 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01884.hp1 HG02055.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0023 | a0001c0005t0005g0282a0001c0005t0005g0283a0001c0005t0005g0284others(3): Show | 6 | 294 | 0.0204 | 0 | c.-26 others(3): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 2/11 | chr22 | TogoVar | ||||||
PACSIN3_chr11_47172522_47191434 | 47183060 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00544.hp1 HG01192.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 3 | 364 | 0.0082 | 0 | c.-94 others(3): Show |
PACSIN3 | ENSG00000165912.16 | transcript | ENST00000298838.11 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
PADI1_chr1_17200128_17251007 | 17205166 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03098.hp2 HG03516.hp2 NA21309.hp2 |
a0012a0013a0014 | a0012c0021a0013c0019a0014c0020 | a0012c0021t0022a0013c0019t0024a0014c0020t0023 | a0012c0021t0022g0390a0013c0019t0024g0392a0014c0020t0023g0391 | 3 | 406 | 0.0074 | 0 | c.-52 others(3): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
PADI4_chr1_17303197_17369004 | 17308208 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01167.hp1 | a0017 | a0017c0029 | a0017c0029t0006 | a0017c0029t0006g0015 | 1 | 372 | 0.0027 | 0 | c.-15 others(3): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
PAEP_chr9_135556756_135571955 | 135561795 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(168): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002a0002c0002t0009others(1): Show | a0001c0001t0003g0008a0001c0001t0003g0009a0001c0001t0003g0012others(20): Show | 171 | 464 | 0.3685 | 0 | c.-7C others(2): Show |
PAEP | ENSG00000122133.17 | transcript | ENST00000479141.6 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
PAF1_chr19_39380629_39396106 | 39391058 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19087.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0022 | 1 | 368 | 0.0027 | 0 | c.-19 others(4): Show |
PAF1 | ENSG00000006712.15 | transcript | ENST00000221265.8 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2593717 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0238 | 1 | 280 | 0.0036 | 0 | c.-48 others(4): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 1/11 | chr17 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117144294 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0001 | 1 | 432 | 0.0023 | 0 | c.-13 others(4): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PAGE1_chrX_49682447_49700984 | 49695897 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02896.hp1 HG02897.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031a0001c0001t0003g0032 | 4 | 322 | 0.0124 | 0 | c.-37 others(3): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 1/6 | chrX | TogoVar |