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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02970.hp2 HG03540.hp1 |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0059 | a0001c0001t0001a0002c0002t0001a0008c0059t0001 | a0001c0001t0001g0086 a0002c0002t0001g0181 a0008c0059t0001g0160 |
3 | 206 | 0.0146 | -19 | c.844 others(40): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402133 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02148.hp2 HG02622.hp1 HG02895.hp2 others(2): Show |
a0004a0008a0016others(1): Show | a0004c0005a0004c0031a0008c0025others(2): Show | a0004c0005t0001a0004c0031t0001a0008c0025t0001others(2): Show | a0004c0005t0001g0083 a0004c0031t0001g0001 a0008c0025t0001g0148 others(2): Show |
5 | 206 | 0.0243 | -19 | c.844 others(40): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402605 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02300.hp2 | a0014 | a0014c0061 | a0014c0061t0001 | a0014c0061t0001g0173 | 1 | 206 | 0.0049 | -19 | c.844 others(40): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77251740 | ATGCCATG others(12): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0041 | a0001c0001t0007g0205 a0001c0001t0007g0260 a0001c0001t0041g0206 |
3 | 326 | 0.0092 | -19 | c.-11 others(36): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77298197 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01175.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0076 others(1): Show |
4 | 326 | 0.0123 | -19 | c.-60 others(40): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77305150 | GGAAGGAA others(12): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(75): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0003a0003c0008others(2): Show | a0002c0002t0004a0002c0002t0012a0002c0002t0019others(14): Show | a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0004g0223 others(75): Show |
78 | 326 | 0.2393 | -19 | c.-60 others(40): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22834387 | TCAGGCTG others(12): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG03516.hp2 |
a0002a0003 | a0002c0002a0003c0033 | a0002c0002t0001a0003c0033t0008 | a0002c0002t0001g0043 a0003c0033t0008g0026 |
2 | 278 | 0.0072 | -19 | c.259 others(38): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22898389 | CCCAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 278 | 0.0036 | -19 | c.258 others(38): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PEF1_chr1_31624866_31649876 | 31627007 | TCGGGGGA others(12): Show |
T | downstream_gene_variant | MODIFIER | NA18967.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0044 |
2 | 346 | 0.0058 | -19 | c.*35 others(30): Show |
PEF1 | ENSG00000162517.13 | transcript | ENST00000373703.5 | protein_coding | 2858 | chr1 | TogoVar | |||||||
PELI2_chr14_56113411_56306524 | 56298636 | GTATTTTG others(12): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18971.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0034 | a0001c0001t0030g0050 a0001c0001t0034g0049 |
2 | 368 | 0.0054 | -19 | c.*14 others(30): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 6/6 | 1482 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PERCC1_chr16_1426078_1439441 | 1434147 | GGGGGGCT others(12): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0002 | 1 | 378 | 0.0027 | -19 | c.*75 others(28): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 757 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PEX10_chr1_2398974_2417564 | 2413637 | TTTGGCCC others(12): Show |
T | upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 | 1 | 358 | 0.0028 | -19 | c.-11 others(30): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 1074 | chr1 | TogoVar | |||||||
PEX12_chr17_35569795_35583571 | 35583115 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 others(1): Show |
10 | 436 | 0.0229 | -19 | c.-51 others(30): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4545 | chr17 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02056.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0153 |
2 | 258 | 0.0078 | -19 | c.170 others(38): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577560 | ATATTTTT others(12): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 258 | 0.0039 | -19 | c.170 others(38): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577562 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01258.hp2 HG01496.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014 a0001c0002t0001g0058 a0001c0002t0001g0198 |
3 | 258 | 0.0116 | -19 | c.170 others(38): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX1_chr7_92482025_92533520 | 92516053 | GAAAAAAG others(12): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0041 | 1 | 310 | 0.0032 | -19 | c.123 others(38): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX5L_chr3_179789958_180041937 | 179874726 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 220 | 0.0046 | -19 | c.630 others(34): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7197098 | ATTATATA others(12): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0307 a0002c0002t0002g0308 |
2 | 428 | 0.0047 | -19 | c.449 others(36): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197213 | AATGTAAT others(12): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0225 | 1 | 428 | 0.0023 | -19 | c.449 others(36): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 366 | 0.0027 | -19 | c.-23 others(28): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | |||||||
PFDN2_chr1_161095561_161123037 | 161103683 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0173 others(5): Show |
12 | 370 | 0.0324 | -19 | c.76- others(34): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6210337 | TTTTTTTT others(12): Show |
T | intron_variant | MODIFIER | HG00438.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0210 a0001c0001t0003g0212 |
2 | 432 | 0.0046 | -19 | c.77- others(34): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKL_chr21_44295053_44332373 | 44304682 | AGCTGTCT others(12): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 392 | 0.0026 | -19 | c.86- others(34): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3094858 | CTAGGGAA others(12): Show |
C | intron_variant | MODIFIER | NA19054.hp2 | a0011 | a0011c0035 | a0011c0035t0004 | a0011c0035t0004g0264 | 1 | 402 | 0.0025 | -19 | c.187 others(36): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39682225 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0050 a0001c0002t0005g0061 |
2 | 376 | 0.0053 | -19 | c.432 others(36): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230367839 | CGTCCAAT others(12): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0095 | a0001c0002t0095g0228 | 1 | 288 | 0.0035 | -19 | c.332 others(38): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15467839 | TTCCTTCC others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02717.hp2 others(2): Show |
a0003 | a0003c0003a0003c0030 | a0003c0003t0001a0003c0030t0001 | a0003c0003t0001g0201 a0003c0003t0001g0203 a0003c0003t0001g0334 others(2): Show |
5 | 382 | 0.0131 | -19 | c.*80 others(28): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 805 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15473470 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01123.hp1 HG01243.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(1): Show |
4 | 382 | 0.0105 | -19 | c.113 others(38): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482109 | TGTACATT others(12): Show |
T | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 382 | 0.0026 | -19 | c.-27 others(30): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2609 | chr19 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68372096 | ATACAAAC others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0004a0001c0002t0001a0001c0007t0004 | a0001c0001t0004g0124 a0001c0002t0001g0125 a0001c0007t0004g0090 others(1): Show |
4 | 246 | 0.0163 | -19 | c.262 others(36): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00621.hp2 others(25): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0003c0020others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0028others(7): Show | a0001c0001t0002g0001 a0001c0003t0002g0173 a0001c0003t0002g0174 others(24): Show |
28 | 254 | 0.1102 | -19 | c.248 others(38): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101064331 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0015 | a0002c0015t0054 | a0002c0015t0054g0023 | 1 | 254 | 0.0039 | -19 | c.190 others(38): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13133219 | CTCCCCCT others(12): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0094 |
3 | 108 | 0.0278 | -19 | c.416 others(38): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13231067 | GGAAGGAA others(12): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0036 a0001c0001t0002g0045 a0001c0001t0003g0039 |
3 | 108 | 0.0278 | -19 | c.139 others(36): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13231086 | AGAAGGAA others(12): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 108 | 0.0093 | -19 | c.139 others(36): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | chr6 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13288118 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0023 a0001c0001t0003g0039 a0001c0001t0003g0042 others(6): Show |
9 | 108 | 0.0833 | -19 | c.*10 others(30): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 282 | chr6 | TogoVar | |||||||
PHC2_chr1_33318626_33436095 | 33388810 | GTTCTGAG others(12): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0245 | 1 | 370 | 0.0027 | -19 | c.-54 others(38): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22135447 | CTTGCATG others(12): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02040.hp1 HG02083.hp1 others(10): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(7): Show | a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0219 others(10): Show |
13 | 231 | 0.0563 | -19 | c.140 others(38): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 12/21 | chrX | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22232596 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02897.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0119a0001c0001t0162 | a0001c0001t0119g0004 a0001c0001t0162g0024 |
2 | 231 | 0.0087 | -19 | c.207 others(38): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11162072 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG01167.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(50): Show |
54 | 298 | 0.1812 | -19 | c.277 others(38): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35855484 | TATTTTTA others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0019 | a0001c0001t0004g0091 a0001c0001t0004g0098 a0001c0001t0004g0099 others(13): Show |
16 | 206 | 0.0777 | -19 | c.341 others(36): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35937366 | GCTGAGGA others(12): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0109 | 1 | 206 | 0.0049 | -19 | c.230 others(38): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 15/17 | chr20 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45925661 | TAAATAAG others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0054 | 1 | 280 | 0.0036 | -19 | c.*82 others(30): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 3657 | chr11 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44882963 | CTCTGTCT others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02071.hp1 HG04199.hp2 NA18961.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0013a0001c0005t0041a0001c0005t0042 | a0001c0005t0013g0093 a0001c0005t0013g0133 a0001c0005t0013g0156 others(3): Show |
6 | 300 | 0.0200 | -19 | c.*10 others(28): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 13/13 | 104 | chr22 | TogoVar | ||||||
PHF8_chrX_53931680_54049473 | 54009844 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG02040.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0039 a0001c0001t0003g0169 |
2 | 186 | 0.0108 | -19 | c.946 others(36): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 8/21 | chrX | TogoVar | |||||||
PHKA1_chrX_72573814_72719306 | 72578490 | AAAAGAAA others(12): Show |
A | downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 237 | 0.0042 | -19 | c.*24 others(30): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 323 | chrX | TogoVar | |||||||
PHKB_chr16_47456331_47706523 | 47473218 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | 98 | 0.0204 | -19 | c.76+ others(36): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49228278 | TTCCTTCC others(12): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054 a0001c0001t0001g0137 a0001c0001t0002g0024 others(1): Show |
8 | 420 | 0.0191 | -19 | c.-67 others(36): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
PHPT1_chr9_136844409_136856024 | 136848939 | AGCGAGGC others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(246): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show |
249 | 344 | 0.7238 | -19 | c.-49 others(28): Show |
PHPT1 | ENSG00000054148.18 | transcript | ENST00000247665.12 | protein_coding | 469 | chr9 | TogoVar |