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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLIN2_chr9_19110761_19132492 | 19127576 | GCCCTGTC others(12): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG03486.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0036 | 2 | 448 | 0.0045 | -19 | c.-19 others(28): Show |
PLIN2 | ENSG00000147872.10 | transcript | ENST00000276914.7 | protein_coding | 85 | chr9 | TogoVar | |||||||
PLK1_chr16_23673889_23695367 | 23684957 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01993.hp2 NA19076.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0037 a0001c0015t0001g0037 |
2 | 354 | 0.0057 | -19 | c.103 others(36): Show |
PLK1 | ENSG00000166851.15 | transcript | ENST00000300093.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PLK4_chr4_127875893_127904224 | 127888177 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0163 |
4 | 364 | 0.0110 | -19 | c.145 others(36): Show |
PLK4 | ENSG00000142731.11 | transcript | ENST00000270861.10 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PLLP_chr16_57251097_57289672 | 57270242 | TTCCCCAG others(12): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0001 | a0001c0001t0007g0122 a0001c0003t0001g0036 a0001c0003t0001g0251 |
4 | 370 | 0.0108 | -19 | c.136 others(36): Show |
PLLP | ENSG00000102934.10 | transcript | ENST00000219207.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
PLOD1_chr1_11929717_11980537 | 11948832 | CCCTGCAG others(12): Show |
C | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 380 | 0.0026 | -19 | c.168 others(34): Show |
PLOD1 | ENSG00000083444.17 | transcript | ENST00000196061.5 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56581052 | ATTTTTAG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0110 a0001c0001t0007g0111 |
2 | 336 | 0.0060 | -19 | c.-20 others(30): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1490 | chr1 | TogoVar | |||||||
PLPPR1_chr9_101023727_101330135 | 101078171 | AAGAAGAA others(12): Show |
A | intron_variant | MODIFIER | NA18522.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0011 |
2 | 203 | 0.0099 | -19 | c.-46 others(38): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
PLS1_chr3_142591393_142718664 | 142600900 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 276 | 0.0036 | -19 | c.-37 others(36): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLSCR5_chr3_146580837_146610346 | 146583178 | CCATTAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 416 | 0.0024 | -19 | c.*27 others(30): Show |
PLSCR5 | ENSG00000231213.7 | transcript | ENST00000443512.2 | protein_coding | 2658 | chr3 | TogoVar | |||||||
PLTP_chr20_45893622_45917155 | 45901768 | GGCGCACA others(12): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 432 | 0.0023 | -19 | c.117 others(36): Show |
PLTP | ENSG00000100979.15 | transcript | ENST00000372431.8 | protein_coding | 12/15 | chr20 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17382265 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0206 |
2 | 436 | 0.0046 | -19 | c.-49 others(30): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4924 | chr19 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 19852425 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp2 HG01071.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(13): Show | a0001c0001t0001g0029 a0001c0001t0003g0168 a0001c0001t0012g0028 others(16): Show |
19 | 180 | 0.1056 | -19 | c.112 others(38): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20130770 | TCTATTAA others(12): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG00733.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(35): Show | a0001c0001t0001g0029 a0001c0001t0011g0145 a0001c0001t0011g0146 others(43): Show |
46 | 180 | 0.2556 | -19 | c.542 others(38): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20272191 | AAATTGGT others(12): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0084a0001c0001t0085others(1): Show | a0001c0001t0045g0061 a0001c0001t0084g0141 a0001c0001t0085g0103 others(1): Show |
4 | 180 | 0.0222 | -19 | c.147 others(38): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 13/13 | chr10 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132178729 | CACTTGTA others(12): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 88 | 0.0114 | -19 | c.387 others(36): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 20/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132188998 | GAGAGAGA others(12): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0010 | a0001c0010t0011 | a0001c0010t0011g0001 | 1 | 88 | 0.0114 | -19 | c.285 others(38): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132282610 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01346.hp2 others(2): Show |
a0001 | a0001c0004a0001c0009a0001c0011others(2): Show | a0001c0004t0001a0001c0009t0001a0001c0011t0001others(2): Show | a0001c0004t0001g0016 a0001c0009t0001g0009 a0001c0011t0001g0051 others(2): Show |
5 | 88 | 0.0568 | -19 | c.150 others(40): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 4/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132449617 | TCTGTCAC others(12): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0060 | 1 | 88 | 0.0114 | -19 | c.137 others(40): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNC1_chr12_94143577_94312675 | 94201748 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01978.hp2 HG02109.hp1 others(2): Show |
a0001a0005 | a0001c0004a0001c0012a0005c0023others(1): Show | a0001c0004t0001a0001c0012t0002a0005c0023t0001others(1): Show | a0001c0004t0001g0108 a0001c0012t0002g0214 a0005c0023t0001g0111 others(2): Show |
5 | 298 | 0.0168 | -19 | c.144 others(38): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PML_chr15_73989716_74052827 | 74048578 | ACCCCCCC others(12): Show |
A | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0010 | 1 | 342 | 0.0029 | -19 | c.*35 others(30): Show |
PML | ENSG00000140464.20 | transcript | ENST00000268058.8 | protein_coding | 752 | chr15 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41572343 | TCCACCCA others(12): Show |
T | downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 330 | 0.0030 | -19 | c.*49 others(30): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4556 | chr22 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8835235 | GAAGGGAG others(12): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0209 | 1 | 408 | 0.0025 | -19 | c.640 others(38): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PMP22_chr17_15224779_15270326 | 15226112 | ATAATTGG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 others(8): Show |
11 | 426 | 0.0258 | -19 | c.*47 others(30): Show |
PMP22 | ENSG00000109099.16 | transcript | ENST00000312280.9 | protein_coding | 3666 | chr17 | TogoVar | |||||||
PMS1_chr2_189779450_189882629 | 189802747 | GATGGTTC others(12): Show |
G | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 234 | 0.0043 | -19 | c.316 others(36): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
PMS1_chr2_189779450_189882629 | 189864682 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 234 | 0.0043 | -19 | c.234 others(36): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PMS1_chr2_189779450_189882629 | 189864688 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03225.hp2 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0013 |
3 | 234 | 0.0128 | -19 | c.234 others(36): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
PNKD_chr2_218265519_218351793 | 218324997 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 2 | 280 | 0.0071 | -19 | c.237 others(38): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152999007 | ACAATGAG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 286 | 0.0035 | -19 | c.-53 others(30): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4892 | chrX | TogoVar | |||||||
PNMA6E_chrX_153390639_153406350 | 153391127 | ACACACTC others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02280.hp1 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0034 a0002c0002t0002g0013 others(9): Show |
16 | 346 | 0.0462 | -19 | c.*57 others(30): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4511 | chrX | TogoVar | |||||||
PNMA8B_chr19_46486191_46500867 | 46498944 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 426 | 0.0024 | -19 | c.-34 others(30): Show |
PNMA8B | ENSG00000204851.7 | transcript | ENST00000599531.2 | protein_coding | 3078 | chr19 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137503499 | GGGAAGGA others(12): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0115 | 1 | 188 | 0.0053 | -19 | c.147 others(38): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137509243 | ATTTAGCT others(12): Show |
A | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 188 | 0.0053 | -19 | c.122 others(38): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 12/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137509364 | TAGTACGA others(12): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02630.hp2 others(10): Show |
a0003a0005a0012others(2): Show | a0003c0020a0003c0068a0005c0007others(4): Show | a0003c0020t0001a0003c0068t0001a0005c0007t0002others(5): Show | a0003c0020t0001g0125 a0003c0020t0001g0126 a0003c0068t0001g0176 others(10): Show |
13 | 188 | 0.0692 | -19 | c.122 others(38): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 12/34 | chr9 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505344 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0080 | 1 | 390 | 0.0026 | -19 | c.120 others(38): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505346 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03486.hp1 NA18954.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0059 a0001c0001t0002g0074 others(1): Show |
5 | 390 | 0.0128 | -19 | c.120 others(38): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505348 | ATATATTT others(12): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 390 | 0.0026 | -19 | c.120 others(38): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55691866 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0218 | 1 | 390 | 0.0026 | -19 | c.161 others(36): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55691868 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03453.hp1 HG03654.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0041 | a0002c0002t0002g0271 a0002c0002t0041g0272 |
2 | 390 | 0.0051 | -19 | c.161 others(36): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55691870 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03130.hp1 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 |
3 | 390 | 0.0077 | -19 | c.161 others(36): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55691872 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0286 a0002c0002t0021g0287 |
2 | 390 | 0.0051 | -19 | c.161 others(36): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
PNP_chr14_20464406_20482089 | 20468595 | TAAATGTA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034 | 2 | 448 | 0.0045 | -19 | c.-92 others(28): Show |
PNP | ENSG00000198805.13 | transcript | ENST00000361505.10 | protein_coding | 810 | chr14 | TogoVar | |||||||
PNP_chr14_20464406_20482089 | 20468607 | TAATGTAA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp1 others(77): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0035 others(24): Show |
80 | 448 | 0.1786 | -19 | c.-91 others(28): Show |
PNP | ENSG00000198805.13 | transcript | ENST00000361505.10 | protein_coding | 798 | chr14 | TogoVar | |||||||
PODN_chr1_53057213_53090494 | 53087966 | CCCTGCCC others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(72): Show |
a0001a0002a0013 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0008others(10): Show | a0001c0001t0001g0018 a0001c0003t0003g0006 a0001c0003t0003g0012 others(40): Show |
75 | 402 | 0.1866 | -19 | c.*34 others(30): Show |
PODN | ENSG00000174348.14 | transcript | ENST00000312553.10 | protein_coding | 2473 | chr1 | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119495225 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02809.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0005g0101 a0001c0001t0006g0025 a0001c0001t0006g0124 others(4): Show |
10 | 422 | 0.0237 | -19 | c.*27 others(30): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 518 | chr3 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24947246 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02809.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show |
11 | 197 | 0.0558 | -19 | c.426 others(40): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLD4_chr11_67345772_67358546 | 67347624 | AAAAAAAA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 314 | 0.0032 | -19 | c.*43 others(30): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3147 | chr11 | TogoVar | |||||||
POLD4_chr11_67345772_67358546 | 67347626 | AAAAAAAA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 314 | 0.0032 | -19 | c.*43 others(30): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3145 | chr11 | TogoVar | |||||||
POLE2_chr14_49638555_49693214 | 49646302 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01346.hp2 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0078 |
3 | 234 | 0.0128 | -19 | c.156 others(36): Show |
POLE2 | ENSG00000100479.14 | transcript | ENST00000216367.10 | protein_coding | 18/18 | chr14 | TogoVar | |||||||
POLE2_chr14_49638555_49693214 | 49652058 | GGGGTCCC others(12): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 234 | 0.0043 | -19 | c.121 others(36): Show |
POLE2 | ENSG00000100479.14 | transcript | ENST00000216367.10 | protein_coding | 15/18 | chr14 | TogoVar | |||||||
POLE2_chr14_49638555_49693214 | 49652263 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0190 |
3 | 234 | 0.0128 | -19 | c.121 others(36): Show |
POLE2 | ENSG00000100479.14 | transcript | ENST00000216367.10 | protein_coding | 15/18 | chr14 | TogoVar |