view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHACTR2_chr6_143672965_143836185 | 143771208 | A | ATATGTAT others(21): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0038 | 1 | 310 | 0.0032 | 28 | c.123 others(47): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59622981 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01433.hp2 HG04228.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0170 a0001c0001t0001g0203 a0001c0001t0004g0016 |
3 | 250 | 0.0120 | 28 | c.118 others(47): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTTT others(21): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 250 | 0.0040 | 28 | c.118 others(47): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33356249 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0052 | 1 | 370 | 0.0027 | 28 | c.977 others(43): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | |||||||
PHC2_chr1_33318626_33436095 | 33356270 | T | TGTATATA others(21): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0031 | 1 | 370 | 0.0027 | 28 | c.977 others(45): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | |||||||
PHC2_chr1_33318626_33436095 | 33356273 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01074.hp1 others(11): Show |
a0002a0012 | a0002c0004a0012c0010 | a0002c0004t0004a0012c0010t0004 | a0002c0004t0004g0014 a0002c0004t0004g0032 a0002c0004t0004g0040 others(11): Show |
14 | 370 | 0.0378 | 28 | c.977 others(45): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | |||||||
PHC3_chr3_170082584_170186733 | 170111394 | G | GAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00673.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0024 | a0001c0002t0005g0305 a0001c0002t0005g0307 a0001c0002t0005g0308 others(7): Show |
10 | 332 | 0.0301 | 28 | c.235 others(47): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 11/14 | chr3 | TogoVar | |||||||
PHC3_chr3_170082584_170186733 | 170126504 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0109 a0001c0001t0014g0110 |
2 | 332 | 0.0060 | 28 | c.178 others(47): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
PHC3_chr3_170082584_170186733 | 170126528 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0111 | 1 | 332 | 0.0030 | 28 | c.178 others(47): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
PHETA1_chr12_111355679_111374095 | 111358247 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 2 | 380 | 0.0053 | 28 | c.*44 others(39): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 2431 | chr12 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22041265 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0047 | 1 | 231 | 0.0043 | 28 | c.187 others(45): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22249453 | A | AATATATA others(21): Show |
3_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0074 | 1 | 231 | 0.0043 | 28 | c.*15 others(39): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1502 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAAATATA others(21): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0007 | 1 | 231 | 0.0043 | 28 | c.*15 others(39): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF12_chr17_28900250_28956518 | 28903702 | C | CCTTCCTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03471.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0001g0069 |
3 | 232 | 0.0129 | 28 | c.*24 others(39): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 1547 | chr17 | TogoVar | |||||||
PHF12_chr17_28900250_28956518 | 28923653 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0173 |
2 | 232 | 0.0086 | 28 | c.715 others(43): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18975.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 a0001c0002t0001g0046 |
2 | 298 | 0.0067 | 28 | c.277 others(49): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01257.hp1 HG03654.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0052 |
3 | 298 | 0.0101 | 28 | c.277 others(49): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 a0001c0002t0001g0081 |
2 | 298 | 0.0067 | 28 | c.277 others(49): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02486.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0293 a0001c0002t0001g0064 |
2 | 298 | 0.0067 | 28 | c.277 others(49): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35904767 | C | CTCCTTCC others(21): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01243.hp1 HG01243.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0005others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0005g0023 others(7): Show |
10 | 206 | 0.0485 | 28 | c.156 others(47): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35904793 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 206 | 0.0049 | 28 | c.156 others(47): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45971890 | C | CTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(8): Show | a0001c0001t0002g0021 a0001c0001t0002g0079 a0001c0001t0003g0113 others(23): Show |
26 | 280 | 0.0929 | 28 | c.361 others(43): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45986084 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01515.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0021others(1): Show | a0001c0001t0001g0218 a0001c0001t0001g0234 a0001c0001t0001g0236 others(4): Show |
7 | 280 | 0.0250 | 28 | c.154 others(45): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | |||||||
PHF23_chr17_7230038_7244457 | 7233087 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 394 | 0.0025 | 28 | c.*25 others(39): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 1950 | chr17 | TogoVar | |||||||
PHKB_chr16_47456331_47706523 | 47590653 | A | ACTTTGGA others(21): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | 98 | 0.0204 | 28 | c.106 others(47): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHLDB2_chr3_111854265_111981517 | 111866014 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02040.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0191 a0001c0001t0018g0190 |
2 | 286 | 0.0070 | 28 | c.-15 others(45): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PHLDB2_chr3_111854265_111981517 | 111955144 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0160 | 1 | 286 | 0.0035 | 28 | c.287 others(47): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PHLDB3_chr19_43470103_43509746 | 43487591 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01358.hp1 NA18956.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0050 a0001c0001t0002g0055 |
3 | 396 | 0.0076 | 28 | c.115 others(45): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 9/15 | chr19 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | NA19083.hp1 NA19083.hp2 |
a0001a0014 | a0001c0001a0014c0023 | a0001c0001t0001a0014c0023t0001 | a0001c0001t0001g0022 a0014c0023t0001g0127 |
2 | 192 | 0.0104 | 28 | c.157 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAATATA others(21): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 192 | 0.0052 | 28 | c.157 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 a0001c0002t0001g0181 |
2 | 192 | 0.0104 | 28 | c.157 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766102 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 192 | 0.0052 | 28 | c.157 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849824 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 192 | 0.0052 | 28 | c.190 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849826 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG03710.hp2 NA19065.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0041 |
3 | 192 | 0.0156 | 28 | c.190 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849828 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 192 | 0.0052 | 28 | c.190 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849830 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0021 | 1 | 192 | 0.0052 | 28 | c.190 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71670695 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03195.hp1 HG03486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0045 others(6): Show |
9 | 324 | 0.0278 | 28 | c.153 others(47): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 10/18 | chr16 | TogoVar | |||||||
PHLPP2_chr16_71639924_71729701 | 71719964 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 |
3 | 324 | 0.0093 | 28 | c.-7+ others(43): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 1/18 | chr16 | TogoVar | |||||||
PHTF2_chr7_77793773_77962225 | 77911173 | T | TACTATAC others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01256.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0144 a0001c0003t0004g0002 a0001c0003t0004g0003 others(3): Show |
6 | 314 | 0.0191 | 28 | c.674 others(43): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHYHIPL_chr10_59171643_59252770 | 59227975 | G | GAGATATA others(21): Show |
intron_variant | MODIFIER | HG04228.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0045 |
2 | 202 | 0.0099 | 28 | c.107 others(45): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PHYHIPL_chr10_59171643_59252770 | 59227975 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0079 |
3 | 202 | 0.0149 | 28 | c.107 others(45): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13304524 | T | TTAAATAA others(21): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp2 NA18956.hp1 others(6): Show |
a0001a0012 | a0001c0001a0012c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0213 a0001c0001t0001g0370 a0001c0001t0002g0302 others(6): Show |
9 | 438 | 0.0206 | 28 | c.-44 others(39): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 4461 | chr10 | TogoVar | |||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 NA18960.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0002g0294 |
3 | 440 | 0.0068 | 28 | c.*54 others(39): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | |||||||
PHYKPL_chr5_178203471_178237802 | 178232828 | T | TCGCCCCG others(21): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG02559.hp2 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0003 | a0001c0001t0003g0010 a0001c0001t0003g0255 a0001c0001t0003g0269 others(1): Show |
4 | 440 | 0.0091 | 28 | c.-27 others(37): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 27 | chr5 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97642850 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 350 | 0.0029 | 28 | c.435 others(45): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97642884 | T | TCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0116 | 1 | 350 | 0.0029 | 28 | c.435 others(45): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97642887 | T | TTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0325 a0001c0002t0008g0326 |
2 | 350 | 0.0057 | 28 | c.435 others(45): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | G | GGTGTGTG others(21): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 350 | 0.0029 | 28 | c.*51 others(39): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PIAS1_chr15_68049315_68198847 | 68050448 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00621.hp2 others(53): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0071 a0001c0001t0001g0182 others(53): Show |
56 | 260 | 0.2154 | 28 | c.-38 others(39): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 3866 | chr15 | TogoVar | |||||||
PIAS1_chr15_68049315_68198847 | 68050448 | T | TGTATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0164 | 1 | 260 | 0.0039 | 28 | c.-38 others(39): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 3866 | chr15 | TogoVar |