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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZD2_chr5_31634131_32115932 | 31978714 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01361.hp2 HG02451.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0002c0002t0005a0002c0003t0011others(2): Show | a0001c0001t0001g0086a0002c0002t0005g0007a0002c0003t0011g0067others(2): Show | 5 | 216 | 0.0232 | 9 | c.477 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32002765 | C | CCACACAC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(165): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0005a0001c0007others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(165): Show | 168 | 216 | 0.7778 | 9 | c.125 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32063027 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00673.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0044a0001c0050others(8): Show | a0001c0001t0001a0001c0044t0001a0001c0050t0036others(20): Show | a0001c0001t0001g0107a0001c0044t0001g0145a0001c0050t0036g0148others(24): Show | 27 | 216 | 0.1250 | 9 | c.245 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32103395 | T | TGCAATGC others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 NA19043.hp2 |
a0001 | a0001c0034a0001c0036 | a0001c0034t0019a0001c0036t0019 | a0001c0034t0019g0212a0001c0036t0019g0211 | 2 | 216 | 0.0093 | 9 | c.835 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD4_chrX_153797166_153835544 | 153833988 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0169 | 2 | 281 | 0.0071 | 9 | c.-36 others(20): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 3445 | chrX | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101017862 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03486.hp2 NA18939.hp2 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0195a0001c0001t0004g0241a0001c0001t0005g0208others(3): Show | 6 | 432 | 0.0139 | 9 | c.152 others(26): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101017866 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02027.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0106a0001c0001t0002g0209a0001c0001t0005g0198others(9): Show | 12 | 432 | 0.0278 | 9 | c.152 others(26): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101017870 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp2 others(3): Show |
a0002 | a0002c0002a0002c0021 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0003a0002c0002t0001g0157a0002c0002t0002g0160others(2): Show | 6 | 432 | 0.0139 | 9 | c.152 others(26): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101019542 | G | GCCTCCTC others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01943.hp2 HG01952.hp2 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0307a0001c0001t0003g0290a0001c0001t0003g0291others(22): Show | 25 | 432 | 0.0579 | 9 | c.929 others(24): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 7/16 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117333118 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01106.hp1 others(46): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0025others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0189a0001c0001t0001g0201others(45): Show | 49 | 322 | 0.1522 | 9 | c.995 others(26): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117333126 | A | ACAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0175a0001c0001t0020g0176a0001c0001t0020g0187 | 3 | 322 | 0.0093 | 9 | c.995 others(26): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117366592 | T | TACCACCA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(135): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(39): Show | a0001c0001t0001g0200a0001c0001t0006g0015a0001c0001t0025g0198others(135): Show | 138 | 322 | 0.4286 | 9 | c.872 others(26): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73386226 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0002g0050a0001c0001t0002g0135a0001c0001t0002g0171others(14): Show | 17 | 216 | 0.0787 | 9 | c.151 others(26): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 8/9 | chr3 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73390635 | A | AATGTGTG others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0013 | a0001c0001t0002a0001c0004t0002a0001c0013t0002 | a0001c0001t0002g0048a0001c0001t0002g0129a0001c0004t0002g0198others(2): Show | 5 | 216 | 0.0232 | 9 | c.135 others(26): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 6/9 | chr3 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73491592 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00735.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(18): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0040others(45): Show | 48 | 216 | 0.2222 | 9 | c.919 others(28): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73563014 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03471.hp2 HG03490.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0002a0001c0005t0001a0002c0003t0005others(1): Show | a0001c0001t0002g0153a0001c0005t0001g0200a0002c0003t0005g0164others(1): Show | 4 | 216 | 0.0185 | 9 | c.918 others(28): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41214430 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03195.hp1 HG03209.hp2 others(11): Show |
a0002a0006a0010others(1): Show | a0002c0002a0002c0016a0002c0061others(5): Show | a0002c0002t0001a0002c0016t0001a0002c0061t0001others(5): Show | a0002c0002t0001g0099a0002c0016t0001g0101a0002c0061t0001g0100others(11): Show | 14 | 206 | 0.0680 | 9 | c.843 others(28): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41326150 | A | ATTTTTGC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(156): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0010others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(55): Show | a0001c0001t0001g0042a0001c0001t0001g0063a0001c0001t0001g0084others(156): Show | 159 | 206 | 0.7718 | 9 | c.843 others(30): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41378520 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01109.hp1 others(40): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0063a0001c0001t0001g0084a0001c0001t0001g0113others(40): Show | 43 | 206 | 0.2087 | 9 | c.844 others(30): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41390562 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02486.hp2 HG02622.hp2 others(7): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0004a0003c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0042a0001c0001t0004g0006others(7): Show | 10 | 206 | 0.0485 | 9 | c.844 others(30): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEAK1_chr15_77103158_77425104 | 77182749 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(108): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0007a0001c0001t0020a0001c0001t0041others(25): Show | a0001c0001t0007g0205a0001c0001t0020g0188a0001c0001t0020g0247others(108): Show | 111 | 326 | 0.3405 | 9 | c.-11 others(26): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77225657 | G | GTATAATT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01258.hp1 others(5): Show |
a0003a0008 | a0003c0003a0008c0010 | a0003c0003t0002a0003c0003t0025a0008c0010t0017 | a0003c0003t0002g0128a0003c0003t0002g0150a0003c0003t0002g0154others(5): Show | 8 | 326 | 0.0245 | 9 | c.-11 others(30): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77226044 | G | GATATATA others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01258.hp2 HG02523.hp2 others(13): Show |
a0001a0002a0004 | a0001c0004a0002c0002a0004c0005 | a0001c0004t0034a0001c0004t0036a0002c0002t0003others(2): Show | a0001c0004t0034g0307a0001c0004t0034g0308a0001c0004t0036g0305others(13): Show | 16 | 326 | 0.0491 | 9 | c.-11 others(30): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
PEAR1_chr1_156888718_156921429 | 156911076 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01256.hp1 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0007a0002c0001others(10): Show | a0001c0002t0003a0001c0007t0003a0002c0001t0001others(12): Show | a0001c0002t0003g0084a0001c0007t0003g0253a0002c0001t0001g0004others(25): Show | 44 | 384 | 0.1146 | 9 | c.195 others(26): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEBP4_chr8_22708251_22932914 | 22795164 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01258.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0007others(7): Show | a0001c0001t0001g0119a0001c0001t0002g0187a0001c0001t0002g0202others(9): Show | 12 | 278 | 0.0432 | 9 | c.357 others(28): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22910934 | A | ACTATGGA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0018a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0018t0002others(6): Show | a0001c0001t0001g0059a0001c0001t0001g0071a0001c0001t0001g0101others(34): Show | 37 | 278 | 0.1331 | 9 | c.258 others(26): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
PECAM1_chr17_64314415_64395860 | 64349587 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01952.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0114a0001c0001t0001g0191a0001c0001t0001g0200others(3): Show | 6 | 288 | 0.0208 | 9 | c.204 others(26): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 12/15 | chr17 | TogoVar | ||||||
PELI1_chr2_64087652_64149420 | 64146493 | G | GCTTTTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(166): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(139): Show | 169 | 304 | 0.5559 | 9 | c.-24 others(20): Show |
PELI1 | ENSG00000197329.12 | transcript | ENST00000358912.5 | protein_coding | 2074 | chr2 | TogoVar | ||||||
PELI2_chr14_56113411_56306524 | 56168750 | C | CCCATAGC others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02055.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0003g0006a0001c0001t0003g0079a0001c0001t0008g0149others(3): Show | 7 | 368 | 0.0190 | 9 | c.78- others(24): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELP1_chr17_4664774_4709137 | 4668957 | T | TATATAAC others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp2 others(3): Show |
a0001a0014 | a0001c0004a0001c0030a0014c0031 | a0001c0004t0004a0001c0030t0004a0014c0031t0004 | a0001c0004t0004g0035a0001c0004t0004g0210a0001c0004t0004g0212others(3): Show | 6 | 316 | 0.0190 | 9 | c.*24 others(20): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 816 | chr17 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4685792 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(46): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0211a0001c0001t0001g0249a0001c0001t0001g0250others(43): Show | 49 | 316 | 0.1551 | 9 | c.421 others(26): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 3/16 | chr17 | TogoVar | ||||||
PER1_chr17_8135472_8157404 | 8137081 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG02055.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0010a0001c0011others(5): Show | a0001c0001t0001a0001c0010t0002a0001c0011t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0034others(12): Show | 20 | 426 | 0.0470 | 9 | c.*39 others(20): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 3390 | chr17 | TogoVar | ||||||
PER1_chr17_8135472_8157404 | 8139665 | G | GGGAACCA others(2): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 HG04115.hp2 HG04199.hp2 |
a0001a0013 | a0001c0001a0013c0025 | a0001c0001t0001a0013c0025t0001 | a0001c0001t0001g0004a0001c0001t0001g0091a0013c0025t0001g0087 | 3 | 426 | 0.0070 | 9 | c.*14 others(20): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 806 | chr17 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7796319 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01243.hp1 others(18): Show |
a0002a0004a0009others(1): Show | a0002c0002a0004c0006a0009c0015others(1): Show | a0002c0002t0001a0002c0002t0012a0004c0006t0001others(2): Show | a0002c0002t0001g0190a0002c0002t0001g0201a0002c0002t0001g0244others(18): Show | 21 | 410 | 0.0512 | 9 | c.645 others(26): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PER3_chr1_7779291_7850177 | 7806808 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02738.hp2 NA18965.hp2 NA19087.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0314a0002c0002t0001g0226a0002c0002t0001g0267 | 3 | 410 | 0.0073 | 9 | c.113 others(28): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806810 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01257.hp2 HG02083.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0293a0001c0001t0001g0305a0001c0001t0001g0343others(6): Show | 9 | 410 | 0.0220 | 9 | c.113 others(28): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01358.hp2 HG02738.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0205a0002c0002t0001g0206a0002c0002t0001g0246 | 3 | 410 | 0.0073 | 9 | c.113 others(28): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10520148 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02809.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0106a0001c0001t0001g0227a0001c0001t0001g0232others(4): Show | 7 | 258 | 0.0271 | 9 | c.85- others(26): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX1_chr7_92482025_92533520 | 92516038 | G | GAAAAAAG others(2): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02074.hp2 HG02165.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0020a0001c0001t0001g0036a0001c0001t0001g0074others(4): Show | 10 | 310 | 0.0323 | 9 | c.123 others(28): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 179874726 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02148.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0148a0001c0001t0001g0158a0001c0001t0003g0205others(5): Show | 8 | 220 | 0.0364 | 9 | c.630 others(24): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196403 | T | TAATAATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00642.hp1 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0005a0001c0001t0003g0010a0001c0001t0003g0016others(40): Show | 58 | 428 | 0.1355 | 9 | c.449 others(26): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | ||||||
PEX6_chr6_42958865_42984181 | 42961550 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01175.hp2 others(12): Show |
a0001a0011 | a0001c0003a0011c0024 | a0001c0003t0003a0011c0024t0003 | a0001c0003t0003g0004a0001c0003t0003g0005a0001c0003t0003g0008others(7): Show | 15 | 378 | 0.0397 | 9 | c.*27 others(20): Show |
PEX6 | ENSG00000124587.14 | transcript | ENST00000304611.13 | protein_coding | 2314 | chr6 | TogoVar | ||||||
PFAS_chr17_8244289_8275486 | 8248410 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01891.hp1 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0028a0001c0001t0001g0081others(11): Show | 17 | 388 | 0.0438 | 9 | c.-10 others(20): Show |
PFAS | ENSG00000178921.14 | transcript | ENST00000314666.11 | protein_coding | 878 | chr17 | TogoVar | ||||||
PFKFB1_chrX_54927961_54999188 | 54968143 | A | AAAAAATG others(2): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 222 | 0.0045 | 9 | c.98- others(24): Show |
PFKFB1 | ENSG00000158571.11 | transcript | ENST00000375006.8 | protein_coding | 1/13 | chrX | TogoVar | ||||||
PFKL_chr21_44295053_44332373 | 44303440 | A | AGACTTGA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01070.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0087a0001c0001t0001g0107a0001c0001t0001g0301others(28): Show | 41 | 392 | 0.1046 | 9 | c.86- others(24): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 1/21 | chr21 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3097077 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01433.hp2 others(29): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0002g0022a0001c0001t0002g0225a0001c0001t0002g0308others(29): Show | 32 | 402 | 0.0796 | 9 | c.187 others(26): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3098672 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01361.hp1 HG01928.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0002g0303a0001c0001t0004g0369a0001c0001t0006g0126others(13): Show | 16 | 402 | 0.0398 | 9 | c.187 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3102250 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01081.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0002g0298a0001c0002t0002g0148a0001c0002t0003g0108others(5): Show | 8 | 402 | 0.0199 | 9 | c.454 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3134446 | T | TTAAATAG others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG00741.hp2 others(37): Show |
a0001a0004a0006 | a0001c0007a0001c0008a0001c0010others(9): Show | a0001c0007t0005a0001c0007t0017a0001c0008t0005others(10): Show | a0001c0007t0005g0010a0001c0007t0005g0031a0001c0007t0005g0093others(37): Show | 40 | 402 | 0.0995 | 9 | c.202 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 19/21 | chr10 | TogoVar | ||||||
PFN1_chr17_4940652_4953530 | 4949611 | A | AGGGCGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0008 | 4 | 432 | 0.0093 | 9 | c.-12 others(20): Show |
PFN1 | ENSG00000108518.8 | transcript | ENST00000225655.6 | protein_coding | 1082 | chr17 | TogoVar |