view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGLYRP2_chr19_15463645_15484501 | 15482563 | T | TCTTCCTT others(8): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0105 | 1 | 382 | 0.0026 | 15 | c.-31 others(26): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3063 | chr19 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153350648 | A | AGAAAAAG others(8): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 NA19004.hp1 NA19079.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0009a0002c0002t0004g0126 | 4 | 392 | 0.0102 | 15 | c.-21 others(26): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1808 | chr1 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74389947 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0004 | a0004c0005 | a0004c0005t0014 | a0004c0005t0014g0121 | 1 | 380 | 0.0026 | 15 | c.111 others(32): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
PGM2_chr4_37821686_37867937 | 37841188 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01255.hp1 others(16): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0092a0001c0002t0002g0039a0001c0002t0002g0066others(15): Show | 19 | 446 | 0.0426 | 15 | c.719 others(30): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | chr4 | TogoVar | |||||||
PGM3_chr6_83159873_83198265 | 83191958 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0149 | 1 | 344 | 0.0029 | 15 | c.-2- others(28): Show |
PGM3 | ENSG00000013375.17 | transcript | ENST00000513973.6 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68356436 | C | CACACACA others(8): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0004 | a0004c0009 | a0004c0009t0019 | a0004c0009t0019g0246 | 1 | 246 | 0.0041 | 15 | c.-69 others(24): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 174 | chr9 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98987165 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 398 | 0.0025 | 15 | c.-14 others(36): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18338732 | T | TAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01192.hp1 HG01255.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0048others(15): Show | a0001c0001t0003g0030a0001c0001t0003g0352a0001c0001t0016g0036others(16): Show | 19 | 412 | 0.0461 | 15 | c.-19 others(26): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 1865 | chr19 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18344213 | G | GGAAAAGA others(8): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 412 | 0.0024 | 15 | c.87+ others(30): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18352266 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01934.hp2 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0022a0001c0001t0026others(8): Show | a0001c0001t0017g0240a0001c0001t0022g0201a0001c0001t0026g0222others(8): Show | 11 | 412 | 0.0267 | 15 | c.88- others(30): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18367155 | C | CAAAAAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0253 | a0001c0001t0253g0356 | 1 | 412 | 0.0024 | 15 | c.*35 others(26): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 3593 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGR_chr11_101024624_101134813 | 101107865 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02717.hp2 HG02895.hp2 others(2): Show |
a0001a0011 | a0001c0002a0011c0009 | a0001c0002t0022a0001c0002t0026a0011c0009t0047 | a0001c0002t0022g0043a0001c0002t0022g0055a0001c0002t0026g0042others(2): Show | 5 | 254 | 0.0197 | 15 | c.179 others(36): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
PGS1_chr17_78373649_78429659 | 78390062 | T | TCCCCCCG others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 NA19072.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0002 | a0001c0001t0001g0266a0001c0011t0002g0315 | 2 | 398 | 0.0050 | 15 | c.144 others(32): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78390062 | T | TCCCCCGC others(8): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 398 | 0.0025 | 15 | c.144 others(32): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78390062 | T | TCCCCCGC others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00735.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0090others(73): Show | 80 | 398 | 0.2010 | 15 | c.144 others(32): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78390062 | T | TCCCCCGC others(8): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 398 | 0.0025 | 15 | c.144 others(32): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78390067 | C | CGCCCCCG others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG03927.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0344a0001c0001t0001g0360a0001c0001t0001g0361others(3): Show | 6 | 398 | 0.0151 | 15 | c.144 others(32): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78420970 | A | AATGGTGT others(8): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0357 | 1 | 398 | 0.0025 | 15 | c.*10 others(32): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12955192 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0082 | 2 | 108 | 0.0185 | 15 | c.251 others(34): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13177172 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0108 | 1 | 108 | 0.0093 | 15 | c.497 others(32): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13187822 | A | ATGAAATA others(8): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 108 | 0.0093 | 15 | c.664 others(32): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | chr6 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13190198 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 108 | 0.0093 | 15 | c.664 others(32): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13195757 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18946.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048a0001c0001t0003g0068 | 2 | 108 | 0.0185 | 15 | c.665 others(34): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13218853 | A | AAAGAGAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 108 | 0.0093 | 15 | c.987 others(32): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143779899 | T | TTTATATT others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01168.hp1 HG01169.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0007a0001c0001t0104a0001c0001t0105others(8): Show | a0001c0001t0007g0118a0001c0001t0104g0177a0001c0001t0105g0186others(8): Show | 11 | 310 | 0.0355 | 15 | c.164 others(34): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143802647 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0135 | 1 | 310 | 0.0032 | 15 | c.184 others(34): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59622981 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0128a0001c0001t0007g0118 | 2 | 250 | 0.0080 | 15 | c.118 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59622990 | A | AAAAAAAC others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0243a0001c0001t0006g0244 | 2 | 250 | 0.0080 | 15 | c.118 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59622990 | A | AAACAAAC others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0245 | 1 | 250 | 0.0040 | 15 | c.118 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635142 | T | TCTTTTTC others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 250 | 0.0040 | 15 | c.118 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635142 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18939.hp2 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0034a0001c0001t0001g0082a0001c0001t0005g0030others(2): Show | 5 | 250 | 0.0200 | 15 | c.118 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59635146 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG01175.hp1 HG04199.hp2 NA19084.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0104a0001c0001t0001g0105others(1): Show | 4 | 250 | 0.0160 | 15 | c.118 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59635148 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 250 | 0.0040 | 15 | c.118 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59668870 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01106.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0019a0001c0001t0001g0045others(20): Show | 23 | 250 | 0.0920 | 15 | c.118 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674491 | T | TCCCCTTC others(8): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 250 | 0.0040 | 15 | c.119 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674695 | G | GCCTTCTC others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18939.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0071a0001c0001t0002g0157a0001c0001t0008g0158 | 3 | 250 | 0.0120 | 15 | c.119 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674707 | C | CCCCCCTT others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 250 | 0.0040 | 15 | c.119 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674805 | A | ACCTTCTC others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00609.hp1 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0025others(86): Show | 90 | 250 | 0.3600 | 15 | c.119 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59822153 | G | GCGATCCG others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 | 1 | 250 | 0.0040 | 15 | c.132 others(36): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28378198 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0037a0002c0002t0039 | a0002c0002t0037g0150a0002c0002t0039g0151 | 2 | 228 | 0.0088 | 15 | c.-39 others(32): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28450974 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0095 | 1 | 228 | 0.0044 | 15 | c.17- others(30): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28476772 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(39): Show |
a0001a0002a0003 | a0001c0003a0001c0005a0002c0002others(1): Show | a0001c0003t0004a0001c0005t0008a0002c0002t0002others(11): Show | a0001c0003t0004g0128a0001c0005t0008g0091a0002c0002t0002g0142others(39): Show | 42 | 228 | 0.1842 | 15 | c.160 others(32): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28499462 | A | ATTTGTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG02258.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0035a0002c0002t0032 | a0001c0003t0035g0134a0002c0002t0032g0024 | 2 | 228 | 0.0088 | 15 | c.*29 others(26): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 14/14 | 2947 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHAF1_chr16_67104941_67153544 | 67107249 | C | CGTGTGTG others(8): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0143a0001c0001t0001g0144 | 4 | 230 | 0.0174 | 15 | c.-29 others(26): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 2691 | chr16 | TogoVar | |||||||
PHAF1_chr16_67104941_67153544 | 67108679 | T | TATCTATC others(8): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 230 | 0.0044 | 15 | c.-14 others(26): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 1261 | chr16 | TogoVar | |||||||
PHAX_chr5_126595947_126632252 | 126609095 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0118 | 1 | 382 | 0.0026 | 15 | c.831 others(30): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PHC1_chr12_8909509_8946467 | 8927914 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0109 | 1 | 368 | 0.0027 | 15 | c.613 others(32): Show |
PHC1 | ENSG00000111752.11 | transcript | ENST00000544916.6 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170111352 | G | GAAAGGGA others(8): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 332 | 0.0030 | 15 | c.235 others(34): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 11/14 | chr3 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22185756 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02615.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0050a0001c0001t0104others(2): Show | a0001c0001t0020g0040a0001c0001t0050g0128a0001c0001t0104g0074others(2): Show | 5 | 231 | 0.0217 | 15 | c.158 others(34): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAATATAT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0205 | 1 | 231 | 0.0043 | 15 | c.*15 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar |