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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PFKP_chr10_3062548_3141802 | 3081977 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG03098.hp2 |
a0001 | a0001c0009a0001c0014 | a0001c0009t0001a0001c0014t0006 | a0001c0009t0001g0322 a0001c0014t0006g0353 |
2 | 402 | 0.0050 | -13 | c.113 others(28): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3110365 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0299 | 1 | 402 | 0.0025 | -13 | c.108 others(30): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGA5_chr11_61236175_61256444 | 61247508 | ACCTCGTG others(6): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0012 | a0012c0023 | a0012c0023t0002 | a0012c0023t0002g0170 | 1 | 406 | 0.0025 | -13 | c.657 others(28): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196832775 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0048 a0001c0001t0014g0081 |
2 | 188 | 0.0106 | -13 | c.*84 others(24): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 228 | chr2 | TogoVar | |||||||
PGAP1_chr2_196828004_196931707 | 196927409 | TAAAAAAA others(6): Show |
T | upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 188 | 0.0053 | -13 | c.-80 others(22): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 703 | chr2 | TogoVar | |||||||
PGAP2_chr11_3803560_3831371 | 3823024 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0128 a0001c0001t0001g0238 a0001c0001t0003g0226 others(8): Show |
14 | 418 | 0.0335 | -13 | c.349 others(28): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39682225 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02896.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0027 a0001c0002t0004g0063 |
3 | 376 | 0.0080 | -13 | c.432 others(30): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
PGAP4_chr9_101468170_101492173 | 101491835 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 460 | 0.0022 | -13 | c.-49 others(24): Show |
PGAP4 | ENSG00000165152.9 | transcript | ENST00000374848.8 | protein_coding | 4663 | chr9 | TogoVar | |||||||
PGBD1_chr6_28276572_28307549 | 28297816 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA19078.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0099 | 1 | 408 | 0.0025 | -13 | c.773 others(26): Show |
PGBD1 | ENSG00000137338.6 | transcript | ENST00000682144.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230375652 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(22): Show | a0001c0001t0002g0054 a0001c0001t0002g0207 a0001c0001t0002g0231 others(37): Show |
41 | 288 | 0.1424 | -13 | c.332 others(32): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230376545 | TGTTGGAT others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(46): Show | a0001c0001t0002g0054 a0001c0001t0002g0135 a0001c0001t0002g0140 others(76): Show |
80 | 288 | 0.2778 | -13 | c.332 others(32): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGD_chr1_10394064_10425511 | 10420389 | CTTTTTTT others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0057 | 1 | 394 | 0.0025 | -13 | c.*65 others(22): Show |
PGD | ENSG00000142657.21 | transcript | ENST00000270776.13 | protein_coding | 13/13 | 652 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGGT1B_chr5_115199012_115267877 | 115217310 | ACTCTTAT others(6): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(80): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(70): Show |
83 | 372 | 0.2231 | -13 | c.844 others(28): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15473470 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02486.hp2 others(7): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0003c0024others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0024t0001others(1): Show | a0001c0001t0001g0150 a0003c0003t0001g0201 a0003c0003t0001g0203 others(7): Show |
10 | 382 | 0.0262 | -13 | c.113 others(32): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153350639 | AAGAAAGA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 392 | 0.0026 | -13 | c.-21 others(24): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1799 | chr1 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63593899 | CCCGACGG others(6): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0350 | 1 | 366 | 0.0027 | -13 | c.246 others(28): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63633932 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0044 | 1 | 366 | 0.0027 | -13 | c.683 others(28): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63658791 | CACACTGC others(6): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01515.hp2 HG01516.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0003a0001c0001t0011a0002c0002t0003others(1): Show | a0001c0001t0003g0099 a0001c0001t0003g0277 a0001c0001t0003g0281 others(5): Show |
8 | 366 | 0.0219 | -13 | c.160 others(30): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74376459 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02818.hp1 NA19240.hp1 |
a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0350 a0001c0004t0019g0351 a0001c0004t0019g0352 |
3 | 380 | 0.0079 | -13 | c.112 others(30): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68356253 | GAAAAAAA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01258.hp2 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0019 | a0001c0001t0001g0187 a0002c0009t0019g0246 |
2 | 246 | 0.0081 | -13 | c.-87 others(22): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 357 | chr9 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98982700 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0099 | 1 | 398 | 0.0025 | -13 | c.-14 others(34): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98987165 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp1 NA19060.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133 a0002c0002t0001g0134 |
2 | 398 | 0.0050 | -13 | c.-14 others(34): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGP_chr16_2206593_2219840 | 2219318 | TTTTTTTA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 others(15): Show |
219 | 452 | 0.4845 | -13 | c.-45 others(24): Show |
PGP | ENSG00000184207.9 | transcript | ENST00000333503.8 | protein_coding | 4479 | chr16 | TogoVar | |||||||
PGRMC2_chr4_128264242_128292813 | 128288852 | CAACTCGT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 436 | 0.0023 | -13 | c.-10 others(24): Show |
PGRMC2 | ENSG00000164040.18 | transcript | ENST00000296425.10 | protein_coding | 1040 | chr4 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0229 | 1 | 254 | 0.0039 | -13 | c.248 others(32): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101046493 | ACCTACTG others(6): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0146 | 1 | 254 | 0.0039 | -13 | c.248 others(32): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101064331 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG02280.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0227 a0001c0002t0009g0228 a0001c0002t0009g0232 |
3 | 254 | 0.0118 | -13 | c.190 others(32): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
PGS1_chr17_78373649_78429659 | 78389574 | GCCTCCCA others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 others(44): Show |
47 | 398 | 0.1181 | -13 | c.144 others(30): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
PGS1_chr17_78373649_78429659 | 78396996 | CGGACCTG others(6): Show |
C | intron_variant | MODIFIER | HG03834.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 a0001c0001t0001g0252 |
2 | 398 | 0.0050 | -13 | c.411 others(28): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
PGS1_chr17_78373649_78429659 | 78411902 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 398 | 0.0025 | -13 | c.140 others(32): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12830109 | GAAAGAAA others(6): Show |
G | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 108 | 0.0093 | -13 | c.250 others(32): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13047377 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 108 | 0.0093 | -13 | c.251 others(30): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13288118 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01496.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0066 a0001c0001t0003g0086 a0001c0001t0003g0096 others(2): Show |
5 | 108 | 0.0463 | -13 | c.*10 others(24): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 282 | chr6 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59640256 | TCTCCCTG others(6): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0243 | 1 | 250 | 0.0040 | -13 | c.118 others(32): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59817603 | CCATAAGT others(6): Show |
C | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 250 | 0.0040 | -13 | c.132 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | chr20 | TogoVar | |||||||
PHAX_chr5_126595947_126632252 | 126622442 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0042 | a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0007g0040 others(1): Show |
4 | 382 | 0.0105 | -13 | c.916 others(30): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PHB1_chr17_49399052_49419882 | 49409543 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00642.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0081 a0001c0001t0003g0093 others(3): Show |
23 | 442 | 0.0520 | -13 | c.251 others(26): Show |
PHB1 | ENSG00000167085.14 | transcript | ENST00000300408.8 | protein_coding | 3/6 | chr17 | TogoVar | |||||||
PHB1_chr17_49399052_49419882 | 49416360 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 2 | 442 | 0.0045 | -13 | c.-15 others(24): Show |
PHB1 | ENSG00000167085.14 | transcript | ENST00000300408.8 | protein_coding | 1479 | chr17 | TogoVar | |||||||
PHC2_chr1_33318626_33436095 | 33349939 | GGCGGGGC others(6): Show |
G | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0177 | 1 | 370 | 0.0027 | -13 | c.155 others(32): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 9/14 | chr1 | TogoVar | |||||||
PHC3_chr3_170082584_170186733 | 170140584 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00609.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 a0001c0001t0002g0286 |
2 | 332 | 0.0060 | -13 | c.673 others(30): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
PHC3_chr3_170082584_170186733 | 170146877 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0109 a0001c0001t0014g0110 a0001c0001t0014g0111 |
3 | 332 | 0.0090 | -13 | c.574 others(30): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 5/14 | chr3 | TogoVar | |||||||
PHETA1_chr12_111355679_111374095 | 111370173 | TTTTTTTG others(6): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 380 | 0.0026 | -13 | c.-14 others(24): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 1079 | chr12 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22055174 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0112 | 1 | 231 | 0.0043 | -13 | c.349 others(30): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22098795 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0047 | 1 | 231 | 0.0043 | -13 | c.934 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22176395 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01071.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0019a0001c0001t0050a0001c0001t0095others(14): Show | a0001c0001t0019g0071 a0001c0001t0050g0128 a0001c0001t0095g0119 others(15): Show |
18 | 231 | 0.0779 | -13 | c.148 others(32): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22176401 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0101 | a0001c0001t0020g0015 a0001c0001t0101g0045 |
2 | 231 | 0.0087 | -13 | c.148 others(32): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22232596 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0150 | a0001c0001t0150g0032 | 1 | 231 | 0.0043 | -13 | c.207 others(32): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11162072 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 others(2): Show |
5 | 298 | 0.0168 | -13 | c.277 others(32): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF19_chr9_120850651_120882188 | 120872037 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 408 | 0.0025 | -13 | c.269 others(30): Show |
PHF19 | ENSG00000119403.15 | transcript | ENST00000373896.8 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
PHF20_chr20_35767015_35955370 | 35850296 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 206 | 0.0049 | -13 | c.340 others(30): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |