| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PDILT_chr16_20354175_20409737 | 20367083 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0020 | a0020c0020 | a0020c0020t0002 | a0020c0020t0002g0015 | 1 | 406 | 0.0025 | -17 | c.111 others(36): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 8/11 | chr16 | TogoVar | ||||||
| PDLIM7_chr5_177478394_177502604 | 177487231 | ACTCTCCC others(10): Show |
A | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0158 | 1 | 440 | 0.0023 | -17 | c.105 others(34): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
| PDLIM7_chr5_177478394_177502604 | 177489046 | TGAGAGCA others(10): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0002a0001c0008a0001c0022 | a0001c0002t0001a0001c0008t0001a0001c0022t0001 | a0001c0002t0001g0269a0001c0002t0001g0270a0001c0002t0001g0295others(5): Show | 8 | 440 | 0.0182 | -17 | c.869 others(32): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 9/12 | chr5 | TogoVar | ||||||
| PDP2_chr16_66875515_66896101 | 66893532 | TATATATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0004 | 1 | 356 | 0.0028 | -17 | c.*76 others(28): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2432 | chr16 | TogoVar | ||||||
| PDPN_chr1_13578832_13622957 | 13601966 | CGGTGGCT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(172): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(159): Show | 175 | 446 | 0.3924 | -17 | c.68- others(32): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PDPN_chr1_13578832_13622957 | 13602046 | CCTTTGGG others(10): Show |
C | intron_variant | MODIFIER | HG02135.hp1 NA18747.hp1 NA18949.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0335a0001c0001t0001g0340a0001c0001t0004g0336others(2): Show | 5 | 446 | 0.0112 | -17 | c.68- others(32): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00673.hp1 others(40): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0006c0012others(1): Show | a0001c0001t0012a0001c0002t0003a0001c0002t0005others(8): Show | a0001c0001t0012g0287a0001c0001t0012g0290a0001c0002t0003g0001others(39): Show | 43 | 334 | 0.1287 | -17 | c.-19 others(36): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PDSS2_chr6_107147562_107464564 | 107225155 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02738.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0002g0072a0001c0001t0002g0074 | 3 | 260 | 0.0115 | -17 | c.703 others(36): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| PDSS2_chr6_107147562_107464564 | 107225157 | ATATATTT others(10): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0003a0001c0001t0014g0223 | 2 | 260 | 0.0077 | -17 | c.703 others(36): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| PDSS2_chr6_107147562_107464564 | 107227278 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0069a0001c0001t0001g0084a0001c0001t0001g0105others(25): Show | 28 | 260 | 0.1077 | -17 | c.703 others(36): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| PDSS2_chr6_107147562_107464564 | 107429894 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 260 | 0.0039 | -17 | c.296 others(36): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
| PDXP_chr22_37653723_37671932 | 37661917 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 418 | 0.0024 | -17 | c.574 others(34): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31641460 | GCTAAGGA others(10): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG02523.hp2 NA18948.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0003a0002c0003t0020a0003c0004t0005others(1): Show | a0001c0001t0003g0032a0002c0003t0020g0033a0003c0004t0005g0031others(1): Show | 4 | 216 | 0.0185 | -17 | c.-36 others(36): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31730575 | TGTGTGTG others(10): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03098.hp2 HG03471.hp1 others(2): Show |
a0001a0002a0024 | a0001c0001a0002c0002a0024c0054 | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0001g0186a0001c0001t0008g0181a0001c0001t0016g0057others(2): Show | 5 | 216 | 0.0232 | -17 | c.-36 others(38): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD2_chr5_31634131_32115932 | 31908082 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0047a0002c0002t0005g0007 | 2 | 216 | 0.0093 | -17 | c.477 others(36): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDZD8_chr10_117272274_117380440 | 117357765 | CCAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02523.hp2 HG02630.hp1 others(2): Show |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0012a0002c0003t0013a0003c0005t0014 | a0002c0003t0012g0302a0002c0003t0013g0303a0003c0005t0014g0102others(2): Show | 5 | 322 | 0.0155 | -17 | c.872 others(36): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01993.hp1 HG01993.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0220a0001c0001t0001g0291a0001c0001t0010g0229 | 3 | 322 | 0.0093 | -17 | c.872 others(36): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| PDZRN3_chr3_73377431_73629941 | 73416875 | GGTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 216 | 0.0046 | -17 | c.919 others(36): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
| PDZRN3_chr3_73377431_73629941 | 73453407 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0162 | 1 | 216 | 0.0046 | -17 | c.919 others(36): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
| PDZRN3_chr3_73377431_73629941 | 73565117 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(134): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0035others(134): Show | 137 | 216 | 0.6343 | -17 | c.918 others(36): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
| PDZRN3_chr3_73377431_73629941 | 73608370 | CCAAACAG others(10): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01243.hp2 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0025a0001c0001t0001g0032a0001c0001t0001g0033others(22): Show | 25 | 216 | 0.1157 | -17 | c.810 others(32): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
| PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 206 | 0.0049 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41402135 | ATATATAC others(10): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0147 | 1 | 206 | 0.0049 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41402160 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0009a0003c0005others(3): Show | a0001c0004t0001a0001c0004t0005a0002c0009t0001others(5): Show | a0001c0004t0001g0011a0001c0004t0001g0157a0001c0004t0005g0051others(13): Show | 16 | 206 | 0.0777 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41402266 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01192.hp2 NA18612.hp2 |
a0003a0015 | a0003c0006a0015c0050 | a0003c0006t0001a0015c0050t0001 | a0003c0006t0001g0124a0015c0050t0001g0023 | 2 | 206 | 0.0097 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41402293 | ATATATAC others(10): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02886.hp2 HG03195.hp2 others(2): Show |
a0002a0003a0004 | a0002c0016a0003c0005a0004c0003 | a0002c0016t0001a0003c0005t0001a0004c0003t0001 | a0002c0016t0001g0186a0002c0016t0001g0187a0003c0005t0001g0053others(2): Show | 5 | 206 | 0.0243 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41402318 | ATATACAC others(10): Show |
A | intron_variant | MODIFIER | HG03471.hp1 NA18978.hp1 |
a0010a0013 | a0010c0051a0013c0062 | a0010c0051t0001a0013c0062t0001 | a0010c0051t0001g0021a0013c0062t0001g0202 | 2 | 206 | 0.0097 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PEAK1_chr15_77103158_77425104 | 77226053 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA19068.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0193 | 1 | 326 | 0.0031 | -17 | c.-11 others(38): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
| PEAK1_chr15_77103158_77425104 | 77298197 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01069.hp1 NA18975.hp1 NA19011.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0021 | a0001c0001t0001g0051a0001c0001t0001g0061a0001c0001t0001g0062others(1): Show | 4 | 326 | 0.0123 | -17 | c.-60 others(38): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
| PEAK1_chr15_77103158_77425104 | 77377520 | TCAGCTCA others(10): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0023a0001c0001t0024a0001c0001t0040others(3): Show | a0001c0001t0023g0313a0001c0001t0023g0316a0001c0001t0024g0317others(4): Show | 7 | 326 | 0.0215 | -17 | c.-66 others(38): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
| PEAK1_chr15_77103158_77425104 | 77391476 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG03540.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0037a0001c0001t0053 | a0001c0001t0015g0208a0001c0001t0037g0262a0001c0001t0053g0259 | 3 | 326 | 0.0092 | -17 | c.-66 others(38): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
| PEBP4_chr8_22708251_22932914 | 22727310 | GAGGAGGA others(10): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp2 HG02004.hp1 others(11): Show |
a0002a0003a0007others(2): Show | a0002c0002a0002c0021a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0021t0002others(7): Show | a0002c0002t0001g0075a0002c0002t0002g0167a0002c0002t0002g0245others(11): Show | 14 | 278 | 0.0504 | -17 | c.358 others(31): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
| PEBP4_chr8_22708251_22932914 | 22898389 | CCCAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG03225.hp2 |
a0002a0006 | a0002c0002a0006c0007a0006c0033 | a0002c0002t0002a0006c0007t0003a0006c0033t0008 | a0002c0002t0002g0245a0006c0007t0003g0097a0006c0033t0008g0026 | 3 | 278 | 0.0108 | -17 | c.258 others(36): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
| PEG3_chr19_56805082_56845726 | 56836969 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(253): Show |
a0001a0002a0006others(20): Show | a0001c0001a0001c0003a0001c0004others(29): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(58): Show | a0001c0001t0004g0015a0001c0001t0004g0016a0001c0001t0004g0031others(122): Show | 256 | 416 | 0.6154 | -17 | c.-24 others(34): Show |
PEG3 | ENSG00000198300.14 | transcript | ENST00000326441.15 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
| PELP1_chr17_4664774_4709137 | 4668936 | TATATATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(112): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0006a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(101): Show | 115 | 316 | 0.3639 | -17 | c.*24 others(28): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 837 | chr17 | TogoVar | ||||||
| PER1_chr17_8135472_8157404 | 8147684 | TGTGGCGG others(10): Show |
T | frameshift_variant | HIGH | NA18972.hp1 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0120 | 1 | 426 | 0.0024 | -17 | c.136 others(26): Show |
p.Phe others(5): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 11/23 | 1584/4676 | 1361/3873 | 454/1290 | chr17 | TogoVar | ||
| PERCC1_chr16_1426078_1439441 | 1432886 | GGCGGTAC others(10): Show |
G | frameshift_variant | HIGH | HG02572.hp2 | a0011 | a0011c0017 | a0011c0017t0010 | a0011c0017t0010g0002 | 1 | 378 | 0.0027 | -17 | c.294 others(24): Show |
p.Arg others(4): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 372/1926 | 294/804 | 98/267 | chr16 | TogoVar | ||
| PERM1_chr1_970198_987093 | 984609 | TTCTTATT others(10): Show |
T | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0020 | a0020c0023 | a0020c0023t0002 | a0020c0023t0002g0052 | 1 | 408 | 0.0025 | -17 | c.-27 others(28): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2517 | chr1 | TogoVar | ||||||
| PES1_chr22_30571625_30596910 | 30574607 | GCCGCGCC others(10): Show |
G | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 432 | 0.0023 | -17 | c.*24 others(28): Show |
PES1 | ENSG00000100029.18 | transcript | ENST00000354694.12 | protein_coding | 2017 | chr22 | TogoVar | ||||||
| PEX11G_chr19_7471875_7494035 | 7483063 | GCCCCCTT others(10): Show |
G | intron_variant | MODIFIER | NA18951.hp1 NA19056.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119a0001c0002t0001g0121 | 2 | 416 | 0.0048 | -17 | c.250 others(32): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
| PEX12_chr17_35569795_35583571 | 35581473 | TTTATATA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01123.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0010a0001c0001t0018others(1): Show | a0001c0001t0008g0030a0001c0001t0010g0013a0001c0001t0018g0038others(1): Show | 9 | 436 | 0.0206 | -17 | c.-34 others(28): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2903 | chr17 | TogoVar | ||||||
| PEX12_chr17_35569795_35583571 | 35583115 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0002a0001c0001t0004g0004a0001c0001t0005g0014others(4): Show | 24 | 436 | 0.0551 | -17 | c.-51 others(28): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4545 | chr17 | TogoVar | ||||||
| PEX14_chr1_10469950_10635758 | 10496738 | CTGTACTG others(10): Show |
C | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 258 | 0.0039 | -17 | c.84+ others(32): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0146 | 2 | 258 | 0.0078 | -17 | c.170 others(36): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PEX14_chr1_10469950_10635758 | 10577550 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0249 | 1 | 258 | 0.0039 | -17 | c.170 others(36): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PEX5L_chr3_179789958_180041937 | 179874726 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0128 | 1 | 220 | 0.0046 | -17 | c.630 others(32): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 6/14 | chr3 | TogoVar | ||||||
| PEX5_chr12_7184686_7216459 | 7189771 | GGGCCCGG others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(153): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(126): Show | 156 | 428 | 0.3645 | -17 | c.-17 others(30): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
| PEX5_chr12_7184686_7216459 | 7203181 | ATGCACTG others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00621.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0190a0001c0001t0003g0199a0001c0001t0004g0219others(26): Show | 34 | 428 | 0.0794 | -17 | c.847 others(32): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | chr12 | TogoVar | ||||||
| PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02040.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 7 | 366 | 0.0191 | -17 | c.-22 others(26): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | ||||||
| PFDN4_chr20_54203087_54224961 | 54223120 | ACCCCACA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01261.hp1 HG01891.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(9): Show | 22 | 438 | 0.0502 | -17 | c.*39 others(28): Show |
PFDN4 | ENSG00000101132.10 | transcript | ENST00000371419.7 | protein_coding | 3160 | chr20 | TogoVar |