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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHAF1_chr16_67104941_67153544 | 67118766 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0033others(3): Show | 6 | 230 | 0.0261 | -9 | c.65- others(24): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHC3_chr3_170082584_170186733 | 170138539 | AATTAGCC others(2): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp1 HG03471.hp1 |
a0003a0010 | a0003c0005a0010c0007 | a0003c0005t0027a0003c0005t0028a0010c0007t0029 | a0003c0005t0027g0324a0003c0005t0028g0325a0010c0007t0029g0323 | 3 | 332 | 0.0090 | -9 | c.673 others(26): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170163861 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0045a0001c0001t0054 | a0001c0001t0012g0100a0001c0001t0012g0102a0001c0001t0012g0103others(3): Show | 6 | 332 | 0.0181 | -9 | c.414 others(26): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 4/14 | chr3 | TogoVar | ||||||
PHETA1_chr12_111355679_111374095 | 111363022 | TGCCACCC others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(139): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0006a0003c0003others(3): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0011others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0008a0002c0002t0001g0011others(26): Show | 142 | 380 | 0.3737 | -9 | c.397 others(16): Show |
p.Gly others(13): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 3/3 | 770/3114 | 397/750 | 133/249 | chr12 | TogoVar | ||
PHEX_chrX_22027325_22256310 | 22039317 | GTGACCAG others(2): Show |
G | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0221 | 1 | 231 | 0.0043 | -9 | c.187 others(24): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22043510 | AAGGTGTC others(2): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02630.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0049a0001c0001t0122a0001c0001t0154others(5): Show | a0001c0001t0049g0148a0001c0001t0122g0048a0001c0001t0154g0009others(5): Show | 8 | 231 | 0.0346 | -9 | c.188 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22055174 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0025a0001c0001t0102others(5): Show | a0001c0001t0020g0040a0001c0001t0025g0165a0001c0001t0102g0039others(5): Show | 8 | 231 | 0.0346 | -9 | c.349 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22056763 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0019a0001c0001t0094a0001c0001t0095others(9): Show | a0001c0001t0019g0071a0001c0001t0094g0120a0001c0001t0095g0119others(10): Show | 13 | 231 | 0.0563 | -9 | c.349 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22073635 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0007 | a0001c0007t0024 | a0001c0007t0024g0082 | 1 | 231 | 0.0043 | -9 | c.350 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22159492 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0050a0001c0001t0068a0001c0001t0102others(3): Show | a0001c0001t0050g0128a0001c0001t0068g0149a0001c0001t0102g0039others(3): Show | 6 | 231 | 0.0260 | -9 | c.140 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22180783 | CCTCATTC others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0020a0001c0001t0046a0001c0001t0049others(10): Show | a0001c0001t0020g0015a0001c0001t0046g0164a0001c0001t0049g0148others(10): Show | 13 | 231 | 0.0563 | -9 | c.158 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22209744 | GCTCCCTC others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG02055.hp1 others(19): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0004a0001c0001t0012a0001c0001t0021others(18): Show | a0001c0001t0004g0220a0001c0001t0012g0066a0001c0001t0021g0013others(19): Show | 22 | 231 | 0.0952 | -9 | c.164 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22230229 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02135.hp1 HG02280.hp1 others(15): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0009a0001c0001t0013a0001c0001t0039others(10): Show | a0001c0001t0009g0144a0001c0001t0009g0200a0001c0001t0009g0214others(15): Show | 18 | 231 | 0.0779 | -9 | c.207 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22232596 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0006 | a0004c0006t0140 | a0004c0006t0140g0123 | 1 | 231 | 0.0043 | -9 | c.207 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22248932 | TTAGTGCA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01099.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0053a0001c0001t0054others(23): Show | a0001c0001t0052g0213a0001c0001t0053g0205a0001c0001t0054g0168others(23): Show | 26 | 231 | 0.1126 | -9 | c.*98 others(18): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 980 | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249452 | AAAAATAT others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0161 | a0001c0001t0161g0011 | 1 | 231 | 0.0043 | -9 | c.*15 others(20): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1501 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PHEX_chrX_22027325_22256310 | 22249456 | ATATATAT others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0069 | 1 | 231 | 0.0043 | -9 | c.*15 others(20): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | chrX | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35805351 | TTTTTTAT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01168.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0004g0110others(1): Show | 4 | 206 | 0.0194 | -9 | c.83+ others(24): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35885467 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0016a0002c0002t0017 | a0002c0002t0003g0114a0002c0002t0003g0115a0002c0002t0003g0116others(25): Show | 28 | 206 | 0.1359 | -9 | c.128 others(30): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF21A_chr11_45924319_46126454 | 45974418 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0069 | a0001c0001t0015g0270a0001c0001t0015g0271a0001c0001t0015g0272others(1): Show | 4 | 280 | 0.0143 | -9 | c.361 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44884041 | GCACCACC others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(75): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0022others(13): Show | a0001c0001t0002g0036a0001c0001t0002g0037a0001c0001t0002g0046others(75): Show | 78 | 300 | 0.2600 | -9 | c.137 others(26): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 12/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44983233 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(211): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0039others(211): Show | 214 | 300 | 0.7133 | -9 | c.120 others(28): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF3_chr6_63630802_63731011 | 63723788 | CATTATTA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(69): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0013a0003c0004others(3): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(19): Show | a0001c0001t0003g0027a0001c0001t0003g0036a0001c0001t0003g0040others(69): Show | 72 | 320 | 0.2250 | -9 | c.*10 others(22): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 16/16 | 10120 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
PHF6_chrX_134368312_134433790 | 134379427 | CTTTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01934.hp1 HG01975.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0196a0001c0001t0001g0197others(4): Show | 7 | 283 | 0.0247 | -9 | c.240 others(26): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF6_chrX_134368312_134433790 | 134406102 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0233 | 1 | 283 | 0.0035 | -9 | c.419 others(26): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF8_chrX_53931680_54049473 | 53932151 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 186 | 0.0054 | -9 | c.*69 others(20): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 4528 | chrX | TogoVar | ||||||
PHKA1_chrX_72573814_72719306 | 72574464 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 237 | 0.0042 | -9 | c.*65 others(20): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 4349 | chrX | TogoVar | ||||||
PHKA1_chrX_72573814_72719306 | 72578490 | AAAAGAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02818.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0040others(12): Show | 15 | 237 | 0.0633 | -9 | c.*25 others(20): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 323 | chrX | TogoVar | ||||||
PHKA1_chrX_72573814_72719306 | 72710831 | TATTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 237 | 0.0042 | -9 | c.237 others(26): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 2/31 | chrX | TogoVar | ||||||
PHKB_chr16_47456331_47706523 | 47583558 | TTTAACTA others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03540.hp1 NA19030.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0039a0002c0002t0002g0041a0002c0002t0002g0048 | 3 | 98 | 0.0306 | -9 | c.774 others(26): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHKG1_chr7_56075295_56097952 | 56087194 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01243.hp1 HG01433.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0036a0001c0001t0001g0042others(10): Show | 18 | 418 | 0.0431 | -9 | c.263 others(24): Show |
PHKG1 | ENSG00000164776.11 | transcript | ENST00000297373.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
PHKG2_chr16_30743425_30766176 | 30748999 | GGGTGGTG others(2): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01346.hp2 HG01943.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0103a0001c0001t0001g0114others(5): Show | 13 | 264 | 0.0492 | -9 | c.95+ others(22): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHKG2_chr16_30743425_30766176 | 30749240 | GTGCTGGT others(2): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG03225.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0124a0001c0001t0001g0142 | 3 | 264 | 0.0114 | -9 | c.95+ others(22): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHLDB1_chr11_118602615_118663028 | 118607329 | TGTGGTGG others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01167.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0007a0001c0002t0002a0001c0003t0003others(4): Show | a0001c0001t0007g0021a0001c0001t0007g0303a0001c0001t0007g0304others(22): Show | 27 | 356 | 0.0758 | -9 | c.-39 others(18): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 285 | chr11 | TogoVar | ||||||
PHLDB2_chr3_111854265_111981517 | 111961903 | GAGACTCA others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01358.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007a0001c0003t0020 | a0001c0003t0001g0154a0001c0003t0007g0268a0001c0003t0007g0269others(9): Show | 12 | 286 | 0.0420 | -9 | c.287 others(26): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62714196 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0012a0002c0003t0001 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0113others(4): Show | 7 | 192 | 0.0365 | -9 | c.-14 others(20): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1344 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62888328 | TGTGTGTA others(2): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01169.hp1 |
a0003 | a0003c0004 | a0003c0004t0008a0003c0004t0017 | a0003c0004t0008g0058a0003c0004t0008g0059a0003c0004t0017g0057 | 3 | 192 | 0.0156 | -9 | c.206 others(28): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 4/16 | chr18 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49220846 | AAATAATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00741.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0021others(20): Show | 37 | 420 | 0.0881 | -9 | c.*33 others(20): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 2519 | chr17 | TogoVar | ||||||
PHOX2A_chr11_72234077_72249176 | 72240115 | GGCGCCCG others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG02280.hp1 HG02615.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0018a0002c0002t0003g0017a0002c0002t0003g0020others(1): Show | 7 | 366 | 0.0191 | -9 | c.480 others(16): Show |
p.Ala others(13): Show |
PHOX2A | ENSG00000165462.5 | transcript | ENST00000298231.5 | protein_coding | 3/3 | 660/1699 | 480/855 | 160/284 | chr11 | TogoVar | ||
PHRF1_chr11_571470_617222 | 615468 | CCAGGTGT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02717.hp1 others(1): Show |
a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0058a0002c0011t0001g0065a0002c0011t0001g0165others(1): Show | 4 | 279 | 0.0143 | -9 | c.*36 others(20): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3247 | chr11 | TogoVar | ||||||
PHTF1_chr1_113691831_113764486 | 113696649 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(47): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0001 | a0001c0001t0001g0002a0001c0001t0001g0103a0001c0001t0001g0104others(46): Show | 50 | 330 | 0.1515 | -9 | c.*10 others(20): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 181 | chr1 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77804011 | TAAGTGTA others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02486.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0266a0001c0001t0001g0273a0001c0001t0001g0274others(1): Show | 4 | 314 | 0.0127 | -9 | c.-36 others(26): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 1/18 | chr7 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77912710 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02109.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0001g0089a0001c0001t0001g0192a0001c0001t0001g0280others(6): Show | 9 | 314 | 0.0287 | -9 | c.674 others(26): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHTF2_chr7_77793773_77962225 | 77925495 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0021a0001c0002t0002 | a0001c0001t0003g0307a0001c0001t0003g0308a0001c0001t0003g0309others(4): Show | 7 | 314 | 0.0223 | -9 | c.101 others(28): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHTF2_chr7_77793773_77962225 | 77927172 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00741.hp2 others(45): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0022a0001c0002t0025others(1): Show | a0001c0002t0002g0008a0001c0002t0002g0009a0001c0002t0002g0010others(45): Show | 48 | 314 | 0.1529 | -9 | c.101 others(28): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHTF2_chr7_77793773_77962225 | 77959646 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0306a0001c0001t0003g0307a0001c0001t0003g0308others(4): Show | 7 | 314 | 0.0223 | -9 | c.*47 others(20): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 2422 | chr7 | TogoVar | ||||||
PHYHIPL_chr10_59171643_59252770 | 59173921 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02809.hp2 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0020others(3): Show | 6 | 202 | 0.0297 | -9 | c.-29 others(20): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 2721 | chr10 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13298922 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG02257.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0161a0001c0001t0001g0210a0001c0001t0003g0162others(1): Show | 4 | 438 | 0.0091 | -9 | c.76- others(22): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
PHYKPL_chr5_178203471_178237802 | 178213501 | TCCACGTG others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01934.hp2 HG02145.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0032a0001c0001t0001g0156a0001c0001t0001g0157others(10): Show | 14 | 440 | 0.0318 | -9 | c.117 others(26): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678922 | TGTGTGTG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01928.hp2 HG02040.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0020a0001c0002t0004g0021a0001c0002t0004g0033others(2): Show | 5 | 350 | 0.0143 | -9 | c.*51 others(20): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2489 | chr10 | TogoVar |