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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZD2_chr5_31634131_32115932 | 31989428 | T | TTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0008 | a0008c0018 | a0008c0018t0006 | a0008c0018t0006g0061 | 1 | 214 | 0.0047 | 29 | c.978 others(46): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73563013 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 175 | 0.0057 | 29 | c.918 others(48): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41214430 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 46 | 0.0217 | 29 | c.843 others(48): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41266310 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0084 | 1 | 172 | 0.0058 | 29 | c.843 others(48): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402566 | A | ATATACAT others(22): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0166 | 1 | 206 | 0.0049 | 29 | c.844 others(50): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77288182 | A | AATAAATG others(22): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02896.hp1 HG06807.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0113 a0003c0003t0003g0117 a0003c0003t0003g0118 others(1): Show |
4 | 324 | 0.0123 | 29 | c.-60 others(48): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEAR1_chr1_156888718_156921429 | 156911076 | T | TCTTTCTT others(22): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02486.hp1 HG03453.hp2 others(8): Show |
a0001a0009 | a0001c0002a0001c0007a0001c0016others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0007t0004others(2): Show | a0001c0002t0003g0002 a0001c0002t0003g0021 a0001c0002t0003g0022 others(6): Show |
11 | 194 | 0.0567 | 29 | c.195 others(46): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4668953 | C | CATATATA others(22): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0208 | 1 | 280 | 0.0036 | 29 | c.*24 others(40): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 820 | chr17 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7806810 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 169 | 0.0059 | 29 | c.113 others(48): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0122 | 1 | 42 | 0.0238 | 29 | c.113 others(48): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0146 | 1 | 42 | 0.0238 | 29 | c.113 others(48): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7815991 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01099.hp2 NA18969.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0099 a0001c0003t0001g0136 |
2 | 40 | 0.0500 | 29 | c.152 others(48): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977073 | G | GGGAACCG others(22): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 406 | 0.0025 | 29 | c.215 others(46): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 978018 | C | CCCCCCCC others(22): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(67): Show |
a0002a0003a0013others(2): Show | a0002c0002a0002c0009a0002c0011others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0009t0002others(5): Show | a0002c0002t0001g0056 a0002c0002t0002g0002 a0002c0002t0002g0006 others(23): Show |
70 | 405 | 0.1728 | 29 | c.214 others(46): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(22): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 39 | 0.0256 | 29 | c.-26 others(40): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(22): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 NA19079.hp1 |
a0001 | a0001c0001a0001c0030 | a0001c0001t0001a0001c0030t0001 | a0001c0001t0001g0111 a0001c0030t0001g0084 |
2 | 40 | 0.0500 | 29 | c.-26 others(40): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(22): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 39 | 0.0256 | 29 | c.-26 others(40): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(22): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 NA19012.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0132 a0002c0002t0002g0002 |
2 | 40 | 0.0500 | 29 | c.-26 others(40): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(22): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00639.hp1 others(39): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0007a0001c0032others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(28): Show |
42 | 80 | 0.5250 | 29 | c.-26 others(40): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERP_chr6_138083505_138112419 | 138086314 | A | ATATATAT others(22): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 196 | 0.0051 | 29 | c.*57 others(40): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2401252 | T | TCCTCCTC others(22): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 86 | 0.0116 | 29 | c.*45 others(40): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2721 | chr1 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10577535 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 256 | 0.0039 | 29 | c.170 others(48): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX1_chr7_92482025_92533520 | 92516048 | G | GAAAAAAG others(22): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 258 | 0.0039 | 29 | c.123 others(48): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92516065 | G | GAGAAGAG others(22): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0223 | 1 | 292 | 0.0034 | 29 | c.123 others(48): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX5L_chr3_179789958_180041937 | 180024347 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 112 | 0.0089 | 29 | c.21+ others(46): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7196951 | T | TTATATAT others(22): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01952.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0002 | a0001c0001t0002g0001 a0001c0001t0002g0037 a0001c0001t0002g0042 others(4): Show |
11 | 268 | 0.0410 | 29 | c.449 others(46): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132718447 | T | TGGGGGGT others(22): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0039a0002c0003t0019 | a0001c0001t0039g0112 a0002c0003t0019g0153 |
2 | 375 | 0.0053 | 29 | c.719 others(44): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132718452 | G | GGTCCTGG others(22): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0178 | 1 | 353 | 0.0028 | 29 | c.719 others(44): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132718463 | G | GGGGTGTC others(22): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 384 | 0.0026 | 29 | c.719 others(44): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196927409 | T | TAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 96 | 0.0104 | 29 | c.-82 others(38): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 703 | chr2 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39691556 | A | AAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0179 | 1 | 243 | 0.0041 | 29 | c.-35 others(40): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3500 | chr17 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39691556 | A | AAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 243 | 0.0041 | 29 | c.-35 others(40): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3500 | chr17 | TogoVar | |||||||
PGGT1B_chr5_115199012_115267877 | 115238291 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0128 | a0001c0001t0028g0285 a0001c0001t0128g0030 |
2 | 74 | 0.0270 | 29 | c.328 others(44): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482520 | T | TTCTTTTT others(22): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0182 | 1 | 370 | 0.0027 | 29 | c.-31 others(40): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3020 | chr19 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74402369 | C | CTAATATA others(22): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0291 | 1 | 378 | 0.0026 | 29 | c.-42 others(40): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 3937 | chr11 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68376834 | T | TTTCTTTC others(22): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0008 | a0003c0008t0027 | a0003c0008t0027g0235 | 1 | 193 | 0.0052 | 29 | c.262 others(46): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18338732 | T | TAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0150a0001c0001t0204 | a0001c0001t0150g0294 a0001c0001t0204g0291 |
2 | 93 | 0.0215 | 29 | c.-19 others(40): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 1865 | chr19 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 12830125 | G | GAAAGAAA others(22): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 107 | 0.0093 | 29 | c.250 others(48): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12830129 | G | GAAAGAAA others(22): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0021 a0001c0001t0003g0042 |
2 | 83 | 0.0241 | 29 | c.250 others(48): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13195757 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 47 | 0.0213 | 29 | c.665 others(48): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59622981 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 30 | 0.0333 | 29 | c.118 others(48): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(22): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03579.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0165 |
3 | 119 | 0.0252 | 29 | c.118 others(48): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59847963 | T | TGCAAACA others(22): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0087 a0001c0001t0003g0048 others(5): Show |
8 | 248 | 0.0323 | 29 | c.*83 others(38): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 253 | chr20 | TogoVar | |||||||
PHAX_chr5_126595947_126632252 | 126609095 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 165 | 0.0061 | 29 | c.831 others(44): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170163883 | A | AAAAAAAG others(22): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02055.hp1 |
a0003 | a0003c0005 | a0003c0005t0025a0003c0005t0026 | a0003c0005t0025g0323 a0003c0005t0026g0324 |
2 | 329 | 0.0061 | 29 | c.414 others(46): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 4/14 | chr3 | TogoVar | |||||||
PHETA1_chr12_111355679_111374095 | 111358247 | C | CTTTTTTT others(22): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 a0001c0001t0006g0030 |
2 | 100 | 0.0200 | 29 | c.*44 others(40): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 2431 | chr12 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAAAAAAA others(22): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0120 | 1 | 70 | 0.0143 | 29 | c.*15 others(40): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF11_chr13_49490953_49533976 | 49518597 | T | TTAATCCT others(22): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 412 | 0.0024 | 29 | c.458 others(44): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 10985636 | C | CCGGTTTT others(22): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 282 | 0.0035 | 29 | c.900 others(46): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 3/17 | chr7 | TogoVar | |||||||
PHF1_chr6_33406014_33421439 | 33410570 | G | GGGAGGGC others(22): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(354): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(37): Show |
357 | 362 | 0.9862 | 29 | c.-66 others(38): Show |
PHF1 | ENSG00000112511.18 | transcript | ENST00000374516.8 | protein_coding | 443 | chr6 | TogoVar |