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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHF21B_chr22_44876162_45015005 | 44961845 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01106.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0079a0001c0001t0001g0081a0001c0001t0001g0195others(36): Show | 39 | 300 | 0.1300 | -12 | c.121 others(31): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44964702 | TTCATTCA others(5): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0258a0001c0002t0005g0259 | 2 | 300 | 0.0067 | -12 | c.120 others(31): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF24_chr9_34953285_34987544 | 34958226 | GCGCCGCC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 450 | 0.0022 | -12 | c.-17 others(21): Show |
PHF24 | ENSG00000122733.12 | transcript | ENST00000242315.4 | protein_coding | 58 | chr9 | TogoVar | ||||||
PHF2_chr9_93571584_93684587 | 93606434 | GTTTTAAT others(5): Show |
G | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 350 | 0.0029 | -12 | c.99- others(29): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHF2_chr9_93571584_93684587 | 93608008 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG00738.hp1 others(66): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(15): Show | a0001c0001t0001g0023a0001c0001t0001g0030a0001c0001t0001g0031others(63): Show | 69 | 350 | 0.1971 | -12 | c.99- others(29): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHF2_chr9_93571584_93684587 | 93662322 | GATGAATT others(5): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0292 | 1 | 350 | 0.0029 | -12 | c.169 others(29): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHF2_chr9_93571584_93684587 | 93662533 | CGGATGGA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(114): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(15): Show | a0001c0001t0002g0001a0001c0001t0002g0013a0001c0001t0002g0014others(112): Show | 117 | 350 | 0.3343 | -12 | c.169 others(29): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHF3_chr6_63630802_63731011 | 63641521 | GGTGTGTA others(5): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0301 | 1 | 320 | 0.0031 | -12 | c.-25 others(29): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHF3_chr6_63630802_63731011 | 63641528 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG06807.hp1 others(1): Show |
a0003a0016 | a0003c0004a0016c0021 | a0003c0004t0029a0003c0004t0036a0003c0004t0051others(1): Show | a0003c0004t0029g0295a0003c0004t0036g0294a0003c0004t0051g0296others(1): Show | 4 | 320 | 0.0125 | -12 | c.-25 others(29): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHF3_chr6_63630802_63731011 | 63649079 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 |
a0001a0014 | a0001c0001a0014c0019 | a0001c0001t0083a0014c0019t0084 | a0001c0001t0083g0301a0014c0019t0084g0300 | 2 | 320 | 0.0063 | -12 | c.244 others(29): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHF3_chr6_63630802_63731011 | 63658708 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(39): Show |
a0001 | a0001c0001a0001c0010a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(7): Show | a0001c0001t0002g0005a0001c0001t0002g0010a0001c0001t0002g0226others(37): Show | 42 | 320 | 0.1313 | -12 | c.244 others(31): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHF3_chr6_63630802_63731011 | 63688303 | CTCCCCCT others(5): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0254 | 1 | 320 | 0.0031 | -12 | c.218 others(31): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHF3_chr6_63630802_63731011 | 63723788 | CATTATTA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(50): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0010a0001c0012others(3): Show | a0001c0001t0002a0001c0001t0035a0001c0001t0039others(12): Show | a0001c0001t0002g0005a0001c0001t0002g0010a0001c0001t0002g0011others(47): Show | 53 | 320 | 0.1656 | -12 | c.*10 others(25): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 16/16 | 10117 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
PHF6_chrX_134368312_134433790 | 134379427 | CTTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02280.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0033others(11): Show | 15 | 283 | 0.0530 | -12 | c.240 others(29): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF6_chrX_134368312_134433790 | 134384634 | CTTCTTTC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(80): Show | 98 | 283 | 0.3463 | -12 | c.240 others(29): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF6_chrX_134368312_134433790 | 134399674 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01261.hp1 HG01993.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0217a0001c0001t0004g0233a0001c0001t0004g0234others(4): Show | 7 | 283 | 0.0247 | -12 | c.418 others(29): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF6_chrX_134368312_134433790 | 134406062 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02886.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0024a0001c0001t0001g0112a0001c0001t0002g0058others(2): Show | 5 | 283 | 0.0177 | -12 | c.419 others(29): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF6_chrX_134368312_134433790 | 134421919 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0230 | 1 | 283 | 0.0035 | -12 | c.969 others(29): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHGDH_chr1_119706934_119749215 | 119707137 | TATAATAA others(5): Show |
T | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 400 | 0.0025 | -12 | c.-48 others(23): Show |
PHGDH | ENSG00000092621.13 | transcript | ENST00000641023.2 | protein_coding | 4796 | chr1 | TogoVar | ||||||
PHIP_chr6_78929419_79083254 | 79059614 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0014a0001c0001t0015a0001c0005t0038others(1): Show | a0001c0001t0014g0158a0001c0001t0015g0155a0001c0005t0038g0047others(1): Show | 4 | 318 | 0.0126 | -12 | c.439 others(27): Show |
PHIP | ENSG00000146247.15 | transcript | ENST00000275034.5 | protein_coding | 6/39 | chr6 | TogoVar | ||||||
PHKA1_chrX_72573814_72719306 | 72630246 | TGAAAAAG others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01071.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0120a0001c0001t0001g0123a0001c0001t0001g0130others(9): Show | 12 | 237 | 0.0506 | -12 | c.171 others(31): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 16/31 | chrX | TogoVar | ||||||
PHKB_chr16_47456331_47706523 | 47650094 | CTTGAACT others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0052 | 1 | 98 | 0.0102 | -12 | c.179 others(29): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHKG1_chr7_56075295_56097952 | 56087194 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | NA18944.hp2 NA18945.hp2 NA18952.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033a0001c0002t0001g0059a0001c0002t0001g0060 | 4 | 418 | 0.0096 | -12 | c.263 others(27): Show |
PHKG1 | ENSG00000164776.11 | transcript | ENST00000297373.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
PHKG2_chr16_30743425_30766176 | 30748999 | GGGTGGTG others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG00741.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0026a0001c0001t0001g0115others(13): Show | 21 | 264 | 0.0796 | -12 | c.95+ others(25): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHKG2_chr16_30743425_30766176 | 30749079 | GTGGTGGT others(5): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 264 | 0.0038 | -12 | c.95+ others(25): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHKG2_chr16_30743425_30766176 | 30749088 | GTGCTGCT others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02109.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033a0001c0001t0001g0086a0001c0001t0001g0096others(4): Show | 8 | 264 | 0.0303 | -12 | c.95+ others(25): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHLDA3_chr1_201459278_201474188 | 201467639 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03017.hp2 NA18612.hp1 NA18964.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0049 | a0001c0001t0004g0015a0001c0001t0049g0075 | 5 | 442 | 0.0113 | -12 | c.*62 others(27): Show |
PHLDA3 | ENSG00000174307.7 | transcript | ENST00000367311.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
PHLDB1_chr11_118602615_118663028 | 118607329 | TGTGGTGG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02922.hp1 HG03471.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0010a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0010g0030a0001c0002t0002g0235a0001c0002t0004g0010others(3): Show | 7 | 356 | 0.0197 | -12 | c.-39 others(21): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 285 | chr11 | TogoVar | ||||||
PHLDB1_chr11_118602615_118663028 | 118648269 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01070.hp1 HG02055.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0053a0001c0001t0001g0217a0001c0001t0001g0218others(11): Show | 14 | 356 | 0.0393 | -12 | c.365 others(29): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHLDB2_chr3_111854265_111981517 | 111866014 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0059 | 1 | 286 | 0.0035 | -12 | c.-15 others(29): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PHLDB3_chr19_43470103_43509746 | 43477995 | ACTCCAAC others(5): Show |
A | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 396 | 0.0025 | -12 | c.178 others(27): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 15/15 | chr19 | TogoVar | ||||||
PHLDB3_chr19_43470103_43509746 | 43503280 | GTCTCTCT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(215): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(21): Show | a0001c0001t0001g0012a0001c0001t0001g0186a0001c0001t0001g0196others(209): Show | 218 | 396 | 0.5505 | -12 | c.213 others(27): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 2/15 | chr19 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62735564 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 192 | 0.0052 | -12 | c.157 others(33): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62801009 | TTCCCTCC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01069.hp1 others(57): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(57): Show | 60 | 192 | 0.3125 | -12 | c.157 others(33): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62836432 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01069.hp1 others(47): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(47): Show | 50 | 192 | 0.2604 | -12 | c.177 others(31): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62836476 | TAAATAAA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01934.hp2 HG01943.hp1 others(14): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0048a0001c0001t0001g0153others(14): Show | 17 | 192 | 0.0885 | -12 | c.177 others(31): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62863192 | CTCTTCTT others(5): Show |
C | intron_variant | MODIFIER | NA18945.hp1 NA18953.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146a0001c0002t0001g0147a0001c0002t0001g0148others(1): Show | 4 | 192 | 0.0208 | -12 | c.206 others(31): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62892082 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(76): Show |
a0001a0005a0008others(4): Show | a0001c0001a0001c0009a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(76): Show | 79 | 192 | 0.4115 | -12 | c.206 others(31): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62900301 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0016a0001c0002t0001others(1): Show | a0001c0001t0009g0185a0001c0001t0016g0088a0001c0002t0001g0071others(1): Show | 4 | 192 | 0.0208 | -12 | c.244 others(31): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62922116 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(86): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(86): Show | 89 | 192 | 0.4635 | -12 | c.296 others(31): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62928737 | GAAAGTAG others(5): Show |
G | intron_variant | MODIFIER | NA18945.hp1 NA18953.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146a0001c0002t0001g0147a0001c0002t0001g0148others(1): Show | 4 | 192 | 0.0208 | -12 | c.296 others(31): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62940300 | CTTAGTTA others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02735.hp2 NA18962.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0021 | a0001c0001t0001a0001c0001t0006a0005c0021t0006 | a0001c0001t0001g0009a0001c0001t0001g0070a0001c0001t0006g0018others(1): Show | 4 | 192 | 0.0208 | -12 | c.296 others(31): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 10/16 | chr18 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71677453 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(71): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0009a0001c0017others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(71): Show | 74 | 324 | 0.2284 | -12 | c.126 others(29): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71691460 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01257.hp1 others(43): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0007a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(43): Show | 46 | 324 | 0.1420 | -12 | c.419 others(27): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 3/18 | chr16 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71701265 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(77): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0034others(76): Show | 80 | 324 | 0.2469 | -12 | c.418 others(29): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 3/18 | chr16 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71701304 | CTATCTAT others(5): Show |
C | intron_variant | MODIFIER | HG02293.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0229 | 1 | 324 | 0.0031 | -12 | c.418 others(29): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 3/18 | chr16 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49220846 | AAATAATA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0056a0001c0001t0001g0138others(35): Show | 94 | 420 | 0.2238 | -12 | c.*33 others(23): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 2519 | chr17 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49228246 | CTCCTTCC others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0021others(17): Show | 68 | 420 | 0.1619 | -12 | c.-67 others(29): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49228289 | CTTCCTTC others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG02080.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0066others(3): Show | 12 | 420 | 0.0286 | -12 | c.-67 others(29): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49232385 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 420 | 0.0024 | -12 | c.-19 others(23): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1599 | chr17 | TogoVar |