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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDXK_chr21_43714129_43767299 | 43741337 | CGGGGGGG others(63): Show |
C | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 358 | 0.0028 | -70 | c.143 others(85): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PHF11_chr13_49490953_49533976 | 49498386 | AATCATTC others(63): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01257.hp2 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0014others(35): Show | 44 | 414 | 0.1063 | -70 | c.94+ others(85): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PHF21A_chr11_45924319_46126454 | 45947863 | CCCATCTA others(63): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0209 | 1 | 280 | 0.0036 | -70 | c.128 others(88): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 14/18 | chr11 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(63): Show |
G | downstream_gene_variant | MODIFIER | NA19084.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0028 | a0001c0001t0001g0265a0001c0002t0028g0308 | 2 | 350 | 0.0057 | -70 | c.*51 others(81): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100314989 | AGGAAGGA others(63): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG02683.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0045a0001c0001t0001g0169a0005c0006t0001g0276others(5): Show | 8 | 306 | 0.0261 | -70 | c.349 others(89): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402179 | AGACCCCC others(63): Show |
A | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0211 | 1 | 216 | 0.0046 | -70 | c.173 others(87): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLB1_chr2_28491060_28649142 | 28539953 | TCCAGGGA others(63): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0103 | 1 | 266 | 0.0038 | -70 | c.699 others(85): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 11/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLCXD3_chr5_41301952_41515601 | 41471783 | TTCCCTTC others(63): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02896.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0012 | a0001c0001t0008g0188a0001c0002t0012g0189a0001c0002t0012g0190 | 3 | 244 | 0.0123 | -70 | c.103 others(89): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242394613 | TATATATG others(63): Show |
T | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0018 | 1 | 188 | 0.0053 | -70 | c.190 others(89): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLPP1_chr5_55419854_55539964 | 55512478 | AAAAAAGA others(63): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp2 others(118): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(118): Show | 121 | 294 | 0.4116 | -70 | c.58+ others(87): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 1/5 | chr5 | TogoVar | ||||||
PLPPR3_chr19_807488_826955 | 815400 | AGTGCCCA others(63): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02135.hp1 others(32): Show |
a0000a0001a0002others(3): Show | a0000c0033a0001c0001a0002c0003others(4): Show | a0000c0033t0001a0001c0001t0001a0002c0003t0001others(6): Show | a0000c0033t0001g0158a0001c0001t0001g0039a0001c0001t0001g0110others(22): Show | 35 | 398 | 0.0879 | -70 | c.262 others(84): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
PLXNA4_chr7_132118340_132581470 | 132132398 | TTCTGTTC others(63): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG03654.hp2 HG03710.hp1 |
a0001 | a0001c0003a0001c0027 | a0001c0003t0002a0001c0027t0002 | a0001c0003t0002g0046a0001c0003t0002g0066a0001c0027t0002g0026 | 3 | 88 | 0.0341 | -70 | c.558 others(87): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 31/31 | chr7 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325073 | TGAGTGAG others(63): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 398 | 0.0025 | -70 | c.194 others(87): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75988713 | GAAGGCCG others(63): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp1 HG02109.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0002a0001c0025 | a0001c0002t0001a0001c0002t0007a0001c0025t0001 | a0001c0002t0001g0017a0001c0002t0001g0023a0001c0002t0001g0044others(4): Show | 7 | 278 | 0.0252 | -70 | c.*22 others(81): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1859 | chr7 | TogoVar | ||||||
POTED_chr21_13604777_13650823 | 13608281 | CATGGATA others(63): Show |
C | upstream_gene_variant | MODIFIER | NA19078.hp1 | a0003 | a0003c0004 | a0003c0004t0045 | a0003c0004t0045g0153 | 1 | 416 | 0.0024 | -70 | c.-19 others(81): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 1495 | chr21 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46181014 | GGTGAGAG others(63): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0196 | 1 | 200 | 0.0050 | -70 | c.-43 others(87): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131952858 | GGGGGGGG others(63): Show |
G | intron_variant | MODIFIER | HG02056.hp2 NA18994.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0042a0001c0001t0068 | a0001c0001t0004g0142a0001c0001t0042g0159a0001c0001t0068g0036 | 3 | 394 | 0.0076 | -70 | c.108 others(89): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R5C_chr14_101756709_101932977 | 101782470 | CCCTTCCG others(63): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0009a0002c0002t0008g0010 | 2 | 138 | 0.0145 | -70 | c.94- others(85): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50397540 | GGGGGGCA others(63): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0067 | 1 | 340 | 0.0029 | -70 | c.227 others(87): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50397762 | GGGGGGCC others(63): Show |
G | intron_variant | MODIFIER | HG03471.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268a0001c0001t0001g0295 | 2 | 340 | 0.0059 | -70 | c.227 others(87): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50397832 | AGGGGGCC others(63): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0049 | 1 | 340 | 0.0029 | -70 | c.227 others(87): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PRDM15_chr21_41793225_41884344 | 41806197 | ACCACCAT others(63): Show |
A | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0367 | 1 | 406 | 0.0025 | -70 | c.265 others(89): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41806544 | CAACATCA others(63): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG03209.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0002a0001c0006t0005g0039a0001c0006t0005g0041 | 4 | 406 | 0.0099 | -70 | c.265 others(89): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856073 | CCCTTCCT others(63): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0248 | 1 | 406 | 0.0025 | -70 | c.285 others(87): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856163 | CTCCCTCC others(63): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0206a0001c0001t0011g0231 | 2 | 406 | 0.0049 | -70 | c.285 others(86): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3379417 | CCCCTCCC others(63): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0022 | a0001c0022t0057 | a0001c0022t0057g0139 | 1 | 210 | 0.0048 | -70 | c.439 others(87): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM7_chr16_90051566_90082331 | 90052466 | TTCTCTGT others(63): Show |
T | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0195 | 1 | 392 | 0.0026 | -70 | c.*57 others(81): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 4099 | chr16 | TogoVar | ||||||
PRDM7_chr16_90051566_90082331 | 90052637 | GTGAATCT others(63): Show |
G | downstream_gene_variant | MODIFIER | HG03139.hp1 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0142a0002c0002t0004g0152 | 2 | 392 | 0.0051 | -70 | c.*55 others(81): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 3928 | chr16 | TogoVar | ||||||
PRDM7_chr16_90051566_90082331 | 90052746 | TTCTCTGT others(63): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02976.hp2 HG03098.hp2 others(2): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0003a0004c0004t0010a0004c0004t0031 | a0003c0003t0003g0014a0004c0004t0010g0048a0004c0004t0010g0049others(1): Show | 5 | 392 | 0.0128 | -70 | c.*54 others(81): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 3819 | chr16 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93722007 | CTAGTGGT others(63): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01099.hp1 others(34): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0038a0001c0001t0002g0052a0001c0001t0002g0350others(33): Show | 37 | 397 | 0.0932 | -70 | c.360 others(85): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93722141 | ATGGTGGT others(63): Show |
A | intron_variant | MODIFIER | HG02723.hp2 NA19043.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0016a0001c0006t0016 | a0001c0003t0016g0203a0001c0006t0016g0214 | 2 | 397 | 0.0050 | -70 | c.360 others(85): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93722316 | GTGGTGGT others(63): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01346.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0372a0001c0001t0002g0155a0001c0001t0002g0299others(5): Show | 8 | 397 | 0.0202 | -70 | c.360 others(85): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161729825 | ACATGTTG others(63): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp1 NA18522.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0010 | a0001c0001t0003a0001c0003t0001a0001c0003t0003others(1): Show | a0001c0001t0003g0021a0001c0003t0001g0025a0001c0003t0003g0027others(1): Show | 4 | 32 | 0.1250 | -70 | c.871 others(89): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162380447 | GTATATAT others(63): Show |
G | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 32 | 0.0313 | -70 | c.171 others(89): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | ||||||
PRR16_chr5_120459300_120692314 | 120633710 | CCCAAATT others(63): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(122): Show | 125 | 170 | 0.7353 | -70 | c.160 others(89): Show |
PRR16 | ENSG00000184838.15 | transcript | ENST00000407149.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PRR20D_chr13_57155632_57168653 | 57156958 | TTTCAGAG others(63): Show |
T | upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022 | 1 | 146 | 0.0069 | -70 | c.-39 others(81): Show |
PRR20D | ENSG00000227151.4 | transcript | ENST00000452123.3 | protein_coding | 3673 | chr13 | TogoVar | ||||||
PTBP1_chr19_792452_817312 | 815400 | AGTGCCCA others(63): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02135.hp2 others(33): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0001g0159a0001c0001t0003g0154a0001c0001t0009g0073others(19): Show | 36 | 388 | 0.0928 | -70 | c.*45 others(81): Show |
PTBP1 | ENSG00000011304.22 | transcript | ENST00000356948.11 | protein_coding | 3089 | chr19 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 487969 | TGCTGCCA others(63): Show |
T | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0057 | 1 | 346 | 0.0029 | -70 | c.622 others(85): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 488049 | CGGGTGGG others(63): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 346 | 0.0029 | -70 | c.622 others(84): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 488086 | CGTGGCCG others(63): Show |
C | intron_variant | MODIFIER | NA18941.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0165a0001c0002t0001g0119 | 2 | 346 | 0.0058 | -70 | c.622 others(83): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTGES3L_chr17_42963103_42985080 | 42967115 | TATATATA others(63): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 336 | 0.0030 | -70 | c.*19 others(81): Show |
PTGES3L | ENSG00000267060.7 | transcript | ENST00000591916.7 | protein_coding | 987 | chr17 | TogoVar | ||||||
PTGFR_chr1_78485974_78545701 | 78532396 | ATGTATAT others(63): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02523.hp1 NA19076.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0100a0001c0001t0001g0113a0001c0001t0001g0306others(1): Show | 4 | 386 | 0.0104 | -70 | c.799 others(87): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PTGFR_chr1_78485974_78545701 | 78532402 | ATATGTGT others(63): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0089 | 1 | 386 | 0.0026 | -70 | c.799 others(87): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PTK6_chr20_63523001_63542376 | 63535750 | CCACCTGG others(63): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02071.hp1 others(27): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(8): Show | a0001c0001t0001g0138a0001c0001t0002g0037a0001c0001t0015g0060others(24): Show | 30 | 344 | 0.0872 | -70 | c.231 others(85): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 8934450 | TTTATATA others(63): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02683.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0004t0018a0001c0005t0001a0001c0006t0026others(1): Show | a0001c0004t0018g0015a0001c0005t0001g0019a0001c0006t0026g0034others(1): Show | 4 | 34 | 0.1177 | -70 | c.-10 others(91): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42978000 | ATTTTGTC others(63): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0022 | a0001c0022t0021 | a0001c0022t0021g0045 | 1 | 62 | 0.0161 | -70 | c.89- others(87): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 30972397 | GGGAGGGG others(63): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp2 NA18947.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0130a0001c0001t0002g0017a0001c0001t0002g0083others(2): Show | 5 | 334 | 0.0150 | -70 | c.150 others(89): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58335561 | GTTGGCTT others(63): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01891.hp2 others(14): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0004t0005 | a0001c0001t0004g0015a0001c0001t0004g0016a0001c0001t0004g0017others(14): Show | 17 | 300 | 0.0567 | -70 | c.102 others(87): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXMP2_chr12_132682587_132709985 | 132693113 | CAGTTAGT others(63): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 350 | 0.0029 | -70 | c.236 others(87): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB31_chr18_9703301_9867551 | 9815385 | GCGTGTAG others(63): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0250 | 1 | 322 | 0.0031 | -70 | c.380 others(85): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |