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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PELI2_chr14_56113411_56306524 | 56197916 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG02040.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0036a0001c0001t0001g0059a0001c0001t0001g0080others(26): Show | 29 | 368 | 0.0788 | -8 | c.207 others(27): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELI2_chr14_56113411_56306524 | 56197969 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0001g0036a0001c0001t0001g0057a0001c0001t0001g0059others(51): Show | 54 | 368 | 0.1467 | -8 | c.207 others(27): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELP1_chr17_4664774_4709137 | 4667990 | GCACACAC others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02809.hp2 HG02976.hp2 others(3): Show |
a0001a0004 | a0001c0002a0004c0009a0004c0017others(1): Show | a0001c0002t0007a0004c0009t0007a0004c0017t0007others(1): Show | a0001c0002t0007g0037a0004c0009t0007g0025a0004c0009t0007g0026others(3): Show | 6 | 316 | 0.0190 | -8 | c.*34 others(19): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 1783 | chr17 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4668880 | CATATATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(229): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0006a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(209): Show | 232 | 316 | 0.7342 | -8 | c.*25 others(19): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 893 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586216 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01515.hp1 HG02040.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0259a0001c0001t0001g0330a0001c0001t0001g0331others(3): Show | 8 | 348 | 0.0230 | -8 | c.96+ others(23): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586284 | GAAAGAAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG02258.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0136a0002c0002t0001g0137a0002c0002t0001g0138others(3): Show | 6 | 348 | 0.0172 | -8 | c.96+ others(23): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33385053 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(64): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0012others(1): Show | a0001c0001t0003a0002c0002t0002a0002c0012t0002others(1): Show | a0001c0001t0003g0001a0001c0001t0003g0054a0001c0001t0003g0056others(62): Show | 67 | 314 | 0.2134 | -8 | c.*22 others(19): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 1896 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33422818 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00639.hp2 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0013others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(3): Show | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0135others(41): Show | 46 | 314 | 0.1465 | -8 | c.672 others(25): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33431210 | GGGAGGGA others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0167 | 3 | 314 | 0.0096 | -8 | c.672 others(27): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7782634 | TTGCTGAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02895.hp1 others(2): Show |
a0002a0015a0016 | a0002c0013a0015c0022a0016c0027 | a0002c0013t0001a0002c0013t0005a0015c0022t0005others(1): Show | a0002c0013t0001g0088a0002c0013t0005g0091a0002c0013t0005g0092others(2): Show | 5 | 410 | 0.0122 | -8 | c.-19 others(19): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 1656 | chr1 | TogoVar | ||||||
PET117_chr20_18132863_18148169 | 18139633 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02258.hp1 HG02451.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0010a0001c0001t0001g0021a0001c0001t0001g0054others(1): Show | 13 | 424 | 0.0307 | -8 | c.96+ others(23): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PEX11A_chr15_89676535_89695754 | 89680315 | TGTTGACT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01346.hp1 HG01515.hp1 HG01517.hp1 others(8): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0006a0001c0005t0001g0034 | 11 | 432 | 0.0255 | -8 | c.*30 others(19): Show |
PEX11A | ENSG00000166821.9 | transcript | ENST00000300056.8 | protein_coding | 1219 | chr15 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35581273 | AATATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG02080.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0003g0003a0001c0001t0007g0007 | 13 | 436 | 0.0298 | -8 | c.-32 others(19): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2703 | chr17 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35583514 | TTCTCTCT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0004g0004others(3): Show | 15 | 436 | 0.0344 | -8 | c.-55 others(19): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4944 | chr17 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10514156 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0106a0001c0001t0001g0123others(1): Show | 4 | 258 | 0.0155 | -8 | c.84+ others(25): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10555642 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp2 NA20129.hp2 |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0006c0013t0001 | a0001c0001t0001g0093a0001c0001t0001g0179a0006c0013t0001g0213 | 3 | 258 | 0.0116 | -8 | c.169 others(27): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577562 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01070.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0056a0001c0001t0001g0082others(4): Show | 7 | 258 | 0.0271 | -8 | c.170 others(27): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10589561 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0093a0001c0001t0001g0100others(5): Show | 8 | 258 | 0.0310 | -8 | c.170 others(25): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10610368 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01884.hp2 HG02055.hp1 others(14): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0006c0013t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0020others(14): Show | 17 | 258 | 0.0659 | -8 | c.299 others(25): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX1_chr7_92482025_92533520 | 92516040 | AGAGAAGA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG02004.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0064a0001c0001t0001g0092others(3): Show | 9 | 310 | 0.0290 | -8 | c.123 others(27): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
PEX26_chr22_18072990_18110396 | 18081151 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(67): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0002g0065a0001c0001t0003g0003a0001c0001t0004g0005others(44): Show | 70 | 398 | 0.1759 | -8 | c.371 others(25): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PEX3_chr6_143445805_143495616 | 143455359 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00735.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0017others(33): Show | 61 | 412 | 0.1481 | -8 | c.74- others(23): Show |
PEX3 | ENSG00000034693.15 | transcript | ENST00000367591.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PEX3_chr6_143445805_143495616 | 143481148 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(144): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0015others(82): Show | 147 | 412 | 0.3568 | -8 | c.941 others(25): Show |
PEX3 | ENSG00000034693.15 | transcript | ENST00000367591.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PEX5L_chr3_179789958_180041937 | 179811217 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00673.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0012a0001c0001t0013others(16): Show | a0001c0001t0006g0017a0001c0001t0006g0018a0001c0001t0006g0025others(32): Show | 35 | 220 | 0.1591 | -8 | c.115 others(25): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 179961195 | ATGTGTAT others(1): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01256.hp2 HG01884.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0011a0001c0001t0047others(4): Show | a0001c0001t0003g0201a0001c0001t0003g0205a0001c0001t0011g0154others(6): Show | 9 | 220 | 0.0409 | -8 | c.93+ others(25): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 2/14 | chr3 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180023769 | CACAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00735.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(39): Show | 42 | 220 | 0.1909 | -8 | c.21+ others(25): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024347 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00735.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(18): Show | a0001c0001t0004g0045a0001c0001t0006g0025a0001c0001t0009g0031others(20): Show | 23 | 220 | 0.1046 | -8 | c.21+ others(25): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024367 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0041a0001c0001t0042others(1): Show | a0001c0001t0016g0197a0001c0001t0041g0195a0001c0001t0042g0194others(1): Show | 4 | 220 | 0.0182 | -8 | c.21+ others(25): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7211636 | TCTCTGGG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0008a0002c0002t0007 | a0001c0001t0007g0028a0001c0001t0007g0163a0001c0001t0007g0164others(7): Show | 16 | 428 | 0.0374 | -8 | c.*14 others(19): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 178 | chr12 | TogoVar | ||||||
PEX6_chr6_42958865_42984181 | 42960218 | CACCGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02970.hp2 HG03130.hp1 others(2): Show |
a0001a0005 | a0001c0005a0005c0007 | a0001c0005t0001a0005c0007t0001 | a0001c0005t0001g0073a0005c0007t0001g0026a0005c0007t0001g0085others(1): Show | 5 | 378 | 0.0132 | -8 | c.*41 others(19): Show |
PEX6 | ENSG00000124587.14 | transcript | ENST00000304611.13 | protein_coding | 3646 | chr6 | TogoVar | ||||||
PEX7_chr6_136817592_136918934 | 136827504 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp2 HG02004.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0172a0001c0001t0001g0173a0001c0001t0001g0174others(13): Show | 16 | 330 | 0.0485 | -8 | c.339 others(25): Show |
PEX7 | ENSG00000112357.14 | transcript | ENST00000318471.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PF4_chr4_73975811_73987027 | 73979611 | CCAAACAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 9 | 366 | 0.0246 | -8 | c.*15 others(19): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 1199 | chr4 | TogoVar | ||||||
PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG03225.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 7 | 366 | 0.0191 | -8 | c.-21 others(17): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | ||||||
PFAS_chr17_8244289_8275486 | 8246965 | CTTATTTA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(58): Show |
a0002a0006a0012others(4): Show | a0002c0002a0002c0035a0006c0008others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(8): Show | a0002c0002t0002g0003a0002c0002t0002g0008a0002c0002t0002g0012others(28): Show | 61 | 388 | 0.1572 | -8 | c.-24 others(19): Show |
PFAS | ENSG00000178921.14 | transcript | ENST00000314666.11 | protein_coding | 2323 | chr17 | TogoVar | ||||||
PFDN1_chr5_140240035_140308101 | 140264020 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp1 HG01175.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0207a0001c0001t0001g0209a0001c0001t0001g0221others(14): Show | 17 | 330 | 0.0515 | -8 | c.285 others(27): Show |
PFDN1 | ENSG00000113068.10 | transcript | ENST00000261813.9 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
PFDN2_chr1_161095561_161123037 | 161097680 | CTCTCTCT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02165.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0047a0001c0001t0001g0100 | 3 | 370 | 0.0081 | -8 | c.*29 others(19): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2880 | chr1 | TogoVar | ||||||
PFDN2_chr1_161095561_161123037 | 161097734 | CTCTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01123.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0114a0001c0001t0001g0135 | 3 | 370 | 0.0081 | -8 | c.*29 others(19): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2826 | chr1 | TogoVar | ||||||
PFDN2_chr1_161095561_161123037 | 161097736 | CTGTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02300.hp2 HG02647.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(4): Show | 9 | 370 | 0.0243 | -8 | c.*29 others(19): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2824 | chr1 | TogoVar | ||||||
PFKFB1_chrX_54927961_54999188 | 54980710 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0030a0001c0001t0001g0031others(1): Show | 4 | 222 | 0.0180 | -8 | c.97+ others(25): Show |
PFKFB1 | ENSG00000158571.11 | transcript | ENST00000375006.8 | protein_coding | 1/13 | chrX | TogoVar | ||||||
PFKFB2_chr1_207048275_207082817 | 207060962 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0018others(1): Show | a0001c0001t0002g0018a0001c0001t0002g0020a0001c0001t0002g0059others(10): Show | 15 | 342 | 0.0439 | -8 | c.86- others(21): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PFKFB3_chr10_6197932_6240532 | 6205388 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00642.hp2 others(80): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0210a0001c0001t0001g0220others(77): Show | 83 | 432 | 0.1921 | -8 | c.76+ others(23): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKFB3_chr10_6197932_6240532 | 6208371 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02572.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0001t0010a0001c0001t0013others(7): Show | a0001c0001t0007g0039a0001c0001t0007g0040a0001c0001t0007g0043others(10): Show | 13 | 432 | 0.0301 | -8 | c.76+ others(23): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKFB3_chr10_6197932_6240532 | 6210348 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0092a0001c0001t0001g0096a0001c0001t0001g0104others(47): Show | 54 | 432 | 0.1250 | -8 | c.77- others(23): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKFB3_chr10_6197932_6240532 | 6218409 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(80): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0091a0001c0001t0001g0210others(79): Show | 83 | 432 | 0.1921 | -8 | c.499 others(25): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKFB4_chr3_48512684_48561803 | 48559898 | CCACACAC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0073others(7): Show | 10 | 246 | 0.0407 | -8 | c.-31 others(19): Show |
PFKFB4 | ENSG00000114268.12 | transcript | ENST00000232375.8 | protein_coding | 3096 | chr3 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3081977 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(29): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(21): Show | a0001c0001t0002g0006a0001c0001t0002g0251a0001c0001t0003g0018others(29): Show | 32 | 402 | 0.0796 | -8 | c.113 others(23): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3120369 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(142): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(42): Show | a0001c0001t0002g0006a0001c0001t0002g0022a0001c0001t0002g0036others(142): Show | 145 | 402 | 0.3607 | -8 | c.168 others(25): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PGA4_chr11_61217347_61236694 | 61222083 | AAGAAAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(151): Show |
a0000a0001a0003others(6): Show | a0000c0009a0001c0001a0001c0003others(9): Show | a0000c0009t0005a0001c0001t0001a0001c0001t0002others(15): Show | a0000c0009t0005g0108a0001c0001t0001g0001a0001c0001t0001g0003others(68): Show | 154 | 304 | 0.5066 | -8 | c.-31 others(17): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 263 | chr11 | TogoVar | ||||||
PGA5_chr11_61236175_61256444 | 61240909 | AAGAAAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01243.hp1 others(90): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0037others(55): Show | 93 | 406 | 0.2291 | -8 | c.-31 others(17): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 265 | chr11 | TogoVar | ||||||
PGA5_chr11_61236175_61256444 | 61246763 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(387): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(181): Show | 390 | 406 | 0.9606 | -8 | c.656 others(23): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |