| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PEX14_chr1_10469950_10635758 | 10620291 | CAATAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03579.hp1 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0243 | 2 | 258 | 0.0078 | -10 | c.384 others(27): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PEX1_chr7_92482025_92533520 | 92515067 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG02080.hp2 NA19060.hp1 |
a0001a0010 | a0001c0002a0010c0015 | a0001c0002t0002a0010c0015t0002 | a0001c0002t0002g0233a0010c0015t0002g0237 | 2 | 310 | 0.0065 | -10 | c.124 others(29): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
| PEX1_chr7_92482025_92533520 | 92516008 | AAAGAGAA others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02280.hp2 HG02683.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0009a0001c0001t0001g0018a0001c0001t0001g0062others(2): Show | 8 | 310 | 0.0258 | -10 | c.123 others(29): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
| PEX1_chr7_92482025_92533520 | 92516050 | AGAGAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 310 | 0.0032 | -10 | c.123 others(29): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
| PEX1_chr7_92482025_92533520 | 92516055 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp2 HG01081.hp1 others(24): Show |
a0001a0004a0007others(1): Show | a0001c0001a0004c0007a0007c0011others(1): Show | a0001c0001t0001a0004c0007t0001a0007c0011t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0011others(16): Show | 27 | 310 | 0.0871 | -10 | c.123 others(29): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
| PEX26_chr22_18072990_18110396 | 18081151 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(304): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(154): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0013others(221): Show | 307 | 398 | 0.7714 | -10 | c.371 others(27): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PEX26_chr22_18072990_18110396 | 18108631 | GACACACA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0017a0001c0001t0117others(1): Show | a0001c0001t0014g0004a0001c0001t0017g0091a0001c0001t0017g0094others(2): Show | 5 | 398 | 0.0126 | -10 | c.*20 others(23): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 3236 | chr22 | TogoVar | ||||||
| PEX3_chr6_143445805_143495616 | 143455171 | ATTTTCTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(136): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(71): Show | 139 | 412 | 0.3374 | -10 | c.74- others(25): Show |
PEX3 | ENSG00000034693.15 | transcript | ENST00000367591.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PEX3_chr6_143445805_143495616 | 143455359 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | 412 | 0.0049 | -10 | c.74- others(25): Show |
PEX3 | ENSG00000034693.15 | transcript | ENST00000367591.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PEX5L_chr3_179789958_180041937 | 179797603 | AAAATATA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0005a0001c0001t0042g0194 | 2 | 220 | 0.0091 | -10 | c.*42 others(21): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 15/15 | 4215 | chr3 | TogoVar | |||||
| PEX5L_chr3_179789958_180041937 | 179811217 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01433.hp2 HG01884.hp1 others(22): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0026others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(22): Show | 25 | 220 | 0.1136 | -10 | c.115 others(27): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
| PEX5L_chr3_179789958_180041937 | 179840161 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0021 | 1 | 220 | 0.0046 | -10 | c.822 others(29): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 8/14 | chr3 | TogoVar | ||||||
| PEX5L_chr3_179789958_180041937 | 179847079 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0099 | a0001c0001t0024g0024a0001c0001t0099g0220 | 2 | 220 | 0.0091 | -10 | c.822 others(29): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 8/14 | chr3 | TogoVar | ||||||
| PEX5L_chr3_179789958_180041937 | 179874728 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0093 | a0001c0001t0042g0194a0001c0001t0093g0108 | 2 | 220 | 0.0091 | -10 | c.630 others(25): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
| PEX5L_chr3_179789958_180041937 | 179942017 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0015a0001c0001t0011g0030 | 2 | 220 | 0.0091 | -10 | c.93+ others(27): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 2/14 | chr3 | TogoVar | ||||||
| PEX5L_chr3_179789958_180041937 | 180024365 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02615.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027a0001c0001t0029others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(9): Show | 12 | 220 | 0.0546 | -10 | c.21+ others(27): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
| PEX5_chr12_7184686_7216459 | 7201135 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 428 | 0.0023 | -10 | c.552 others(25): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PEX6_chr6_42958865_42984181 | 42959507 | CAGAGAGA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(237): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0005a0001c0008others(15): Show | a0001c0003t0003a0001c0005t0001a0001c0008t0001others(16): Show | a0001c0003t0003g0004a0001c0003t0003g0005a0001c0003t0003g0008others(141): Show | 240 | 378 | 0.6349 | -10 | c.*48 others(21): Show |
PEX6 | ENSG00000124587.14 | transcript | ENST00000304611.13 | protein_coding | 4357 | chr6 | TogoVar | ||||||
| PEX7_chr6_136817592_136918934 | 136827504 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(123): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0008a0001c0001t0001g0159a0001c0001t0001g0160others(119): Show | 126 | 330 | 0.3818 | -10 | c.339 others(27): Show |
PEX7 | ENSG00000112357.14 | transcript | ENST00000318471.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PEX7_chr6_136817592_136918934 | 136854080 | CTTTACGG others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(194): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0157a0001c0001t0001g0158others(190): Show | 197 | 330 | 0.5970 | -10 | c.526 others(27): Show |
PEX7 | ENSG00000112357.14 | transcript | ENST00000318471.5 | protein_coding | 5/9 | chr6 | TogoVar | ||||||
| PEX7_chr6_136817592_136918934 | 136917474 | TAATAAAT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG03195.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0189a0001c0001t0002g0146 | 2 | 330 | 0.0061 | -10 | c.*39 others(21): Show |
PEX7 | ENSG00000112357.14 | transcript | ENST00000318471.5 | protein_coding | 3541 | chr6 | TogoVar | ||||||
| PF4V1_chr4_73848296_73859483 | 73855056 | GATATATA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -10 | c.*93 others(19): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 574 | chr4 | TogoVar | ||||||
| PF4V1_chr4_73848296_73859483 | 73855105 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -10 | c.*98 others(19): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 623 | chr4 | TogoVar | ||||||
| PF4_chr4_73975811_73987027 | 73983385 | AACACACA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 HG03516.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0002t0001g0005 | 3 | 366 | 0.0082 | -10 | c.-14 others(21): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 1359 | chr4 | TogoVar | ||||||
| PFAS_chr17_8244289_8275486 | 8250711 | CTGGAGGT others(3): Show |
C | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 388 | 0.0026 | -10 | c.-80 others(27): Show |
PFAS | ENSG00000178921.14 | transcript | ENST00000314666.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PFDN1_chr5_140240035_140308101 | 140264020 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01928.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0032others(17): Show | 21 | 330 | 0.0636 | -10 | c.285 others(29): Show |
PFDN1 | ENSG00000113068.10 | transcript | ENST00000261813.9 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
| PFDN2_chr1_161095561_161123037 | 161097678 | CTCTCTCT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0013 | 2 | 370 | 0.0054 | -10 | c.*29 others(21): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2882 | chr1 | TogoVar | ||||||
| PFDN2_chr1_161095561_161123037 | 161097728 | CTCTCTCT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0018 | 2 | 370 | 0.0054 | -10 | c.*29 others(21): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2832 | chr1 | TogoVar | ||||||
| PFDN2_chr1_161095561_161123037 | 161097730 | CTCTCTCT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 370 | 0.0027 | -10 | c.*29 others(21): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2830 | chr1 | TogoVar | ||||||
| PFDN2_chr1_161095561_161123037 | 161097732 | CTCTCTGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 370 | 0.0027 | -10 | c.*29 others(21): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2828 | chr1 | TogoVar | ||||||
| PFDN2_chr1_161095561_161123037 | 161097734 | CTCTGTGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02080.hp2 HG02132.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0038others(1): Show | 5 | 370 | 0.0135 | -10 | c.*29 others(21): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2826 | chr1 | TogoVar | ||||||
| PFDN2_chr1_161095561_161123037 | 161097736 | CTGTGTGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02523.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 2 | 370 | 0.0054 | -10 | c.*29 others(21): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2824 | chr1 | TogoVar | ||||||
| PFDN2_chr1_161095561_161123037 | 161103683 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18948.hp1 NA18950.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0058 | 4 | 370 | 0.0108 | -10 | c.76- others(25): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| PFDN4_chr20_54203087_54224961 | 54219721 | ACATGTGG others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03098.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092a0001c0001t0004g0093 | 2 | 438 | 0.0046 | -10 | c.*58 others(19): Show |
PFDN4 | ENSG00000101132.10 | transcript | ENST00000371419.7 | protein_coding | 4/4 | 581 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
| PFKFB1_chrX_54927961_54999188 | 54949424 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0082a0001c0001t0001g0093others(3): Show | 7 | 222 | 0.0315 | -10 | c.847 others(25): Show |
PFKFB1 | ENSG00000158571.11 | transcript | ENST00000375006.8 | protein_coding | 8/13 | chrX | TogoVar | ||||||
| PFKFB2_chr1_207048275_207082817 | 207053904 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA18956.hp2 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0057a0001c0002t0013g0058 | 2 | 342 | 0.0059 | -10 | c.-18 others(25): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PFKFB2_chr1_207048275_207082817 | 207061107 | ATCTATAT others(3): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0014a0001c0002t0002g0248a0001c0002t0005g0051others(2): Show | 7 | 342 | 0.0205 | -10 | c.86- others(23): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PFKFB2_chr1_207048275_207082817 | 207061109 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0201 | 1 | 342 | 0.0029 | -10 | c.86- others(23): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PFKFB3_chr10_6197932_6240532 | 6200666 | GGGGGGGG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0392 | 1 | 432 | 0.0023 | -10 | c.-25 others(21): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 2265 | chr10 | TogoVar | ||||||
| PFKFB4_chr3_48512684_48561803 | 48551519 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 NA18940.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0007a0001c0001t0003g0060a0001c0001t0003g0061others(4): Show | 9 | 246 | 0.0366 | -10 | c.98- others(25): Show |
PFKFB4 | ENSG00000114268.12 | transcript | ENST00000232375.8 | protein_coding | 1/13 | chr3 | TogoVar | ||||||
| PFKFB4_chr3_48512684_48561803 | 48559898 | CCACACAC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0089a0001c0001t0001g0152 | 3 | 246 | 0.0122 | -10 | c.-31 others(21): Show |
PFKFB4 | ENSG00000114268.12 | transcript | ENST00000232375.8 | protein_coding | 3096 | chr3 | TogoVar | ||||||
| PFKL_chr21_44295053_44332373 | 44325346 | TCACGGGC others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG01515.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042a0001c0002t0001g0269a0001c0002t0001g0272 | 4 | 392 | 0.0102 | -10 | c.198 others(26): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3064908 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0003a0001c0003t0001a0001c0005t0010others(7): Show | a0001c0001t0003g0166a0001c0001t0003g0170a0001c0003t0001g0169others(8): Show | 11 | 402 | 0.0274 | -10 | c.-26 others(21): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2639 | chr10 | TogoVar | ||||||
| PFKP_chr10_3062548_3141802 | 3076032 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0401 | 1 | 402 | 0.0025 | -10 | c.113 others(27): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3081977 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00639.hp2 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0002g0022a0001c0001t0003g0230a0001c0001t0006g0126others(22): Show | 25 | 402 | 0.0622 | -10 | c.113 others(25): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3121821 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0053 | a0001c0053t0001 | a0001c0053t0001g0141 | 1 | 402 | 0.0025 | -10 | c.168 others(29): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3136588 | CGCCTGCA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0021 | a0001c0021t0016 | a0001c0021t0016g0120 | 1 | 402 | 0.0025 | -10 | c.*17 others(17): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 22/22 | 17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| PGAM5_chr12_132705842_132727734 | 132710643 | CCGCACCT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0036 | a0001c0001t0005g0008a0001c0001t0036g0008 | 2 | 394 | 0.0051 | -10 | c.-23 others(19): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 198 | chr12 | TogoVar | ||||||
| PGAM5_chr12_132705842_132727734 | 132715980 | TGCCTTGG others(3): Show |
T | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 394 | 0.0025 | -10 | c.370 others(25): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PGAM5_chr12_132705842_132727734 | 132716082 | CGTCTGCT others(3): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 394 | 0.0025 | -10 | c.370 others(27): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 2/5 | chr12 | TogoVar |