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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PECAM1_chr17_64314415_64395860 | 64359699 | CCCTGCTT others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0223 | 2 | 288 | 0.0069 | -12 | c.149 others(29): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 7/15 | chr17 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216074493 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(46): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0180a0001c0001t0001g0181others(45): Show | 49 | 398 | 0.1231 | -12 | c.124 others(29): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216074529 | GAAGGAAG others(5): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0380 | 1 | 398 | 0.0025 | -12 | c.124 others(29): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
PEDS1_chr20_50113254_50158723 | 50125544 | TTATCTAT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0074a0001c0001t0002g0010a0001c0001t0002g0280others(25): Show | 32 | 366 | 0.0874 | -12 | c.692 others(27): Show |
PEDS1 | ENSG00000240849.11 | transcript | ENST00000371652.9 | protein_coding | 5/5 | chr20 | TogoVar | ||||||
PEDS1_chr20_50113254_50158723 | 50127340 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02074.hp1 HG02080.hp2 HG02523.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0025 | a0001c0001t0002g0024a0001c0001t0002g0263a0001c0001t0002g0278others(6): Show | 12 | 366 | 0.0328 | -12 | c.691 others(27): Show |
PEDS1 | ENSG00000240849.11 | transcript | ENST00000371652.9 | protein_coding | 5/5 | chr20 | TogoVar | ||||||
PEF1_chr1_31624866_31649876 | 31637227 | AAGACTCC others(5): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02083.hp2 NA18747.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0027a0001c0001t0001g0038others(1): Show | 11 | 346 | 0.0318 | -12 | c.25- others(27): Show |
PEF1 | ENSG00000162517.13 | transcript | ENST00000373703.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
PEG3_chr19_56805082_56845726 | 56836969 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18942.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0186 | 1 | 416 | 0.0024 | -12 | c.-24 others(29): Show |
PEG3 | ENSG00000198300.14 | transcript | ENST00000326441.15 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
PELI2_chr14_56113411_56306524 | 56118617 | AGGCGGCG others(5): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02451.hp1 HG03225.hp2 NA18961.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0023a0001c0001t0024others(1): Show | a0001c0001t0022g0357a0001c0001t0023g0197a0001c0001t0024g0291others(1): Show | 4 | 368 | 0.0109 | -12 | c.-25 others(19): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 1/6 | 14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
PELI2_chr14_56113411_56306524 | 56118956 | CGCGGAGG others(5): Show |
C | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 368 | 0.0027 | -12 | c.77+ others(25): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELI2_chr14_56113411_56306524 | 56181840 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01099.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0096a0001c0001t0004g0075a0001c0001t0005g0009others(22): Show | 26 | 368 | 0.0707 | -12 | c.207 others(29): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELI2_chr14_56113411_56306524 | 56197969 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01257.hp2 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009a0001c0001t0005g0258a0001c0001t0005g0259others(1): Show | 5 | 368 | 0.0136 | -12 | c.207 others(31): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELI2_chr14_56113411_56306524 | 56198002 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01516.hp2 HG01517.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0070a0001c0001t0001g0311a0001c0001t0006g0061others(5): Show | 8 | 368 | 0.0217 | -12 | c.207 others(31): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELI2_chr14_56113411_56306524 | 56286729 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 368 | 0.0027 | -12 | c.310 others(29): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELI3_chr11_66461905_66482337 | 66469792 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 396 | 0.0025 | -12 | c.224 others(27): Show |
PELI3 | ENSG00000174516.15 | transcript | ENST00000320740.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PELO_chr5_52782916_52809044 | 52784621 | TAAAAAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0051a0001c0001t0009g0052 | 2 | 442 | 0.0045 | -12 | c.-43 others(23): Show |
PELO | ENSG00000152684.11 | transcript | ENST00000274311.3 | protein_coding | 3294 | chr5 | TogoVar | ||||||
PELO_chr5_52782916_52809044 | 52794500 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 442 | 0.0023 | -12 | c.-51 others(31): Show |
PELO | ENSG00000152684.11 | transcript | ENST00000274311.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PELP1_chr17_4664774_4709137 | 4668842 | TATACACA others(5): Show |
T | downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 316 | 0.0032 | -12 | c.*25 others(23): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 931 | chr17 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4668953 | CATATATA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0218 | 1 | 316 | 0.0032 | -12 | c.*24 others(23): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 820 | chr17 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4668976 | ATATATAT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG06807.hp2 |
a0001 | a0001c0007 | a0001c0007t0016 | a0001c0007t0016g0246a0001c0007t0016g0279 | 2 | 316 | 0.0063 | -12 | c.*24 others(23): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 797 | chr17 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4672027 | GGGAGGCA others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG00423.hp2 HG02129.hp2 NA18955.hp2 others(6): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0014a0003c0005t0001g0112a0003c0005t0001g0158others(5): Show | 9 | 316 | 0.0285 | -12 | c.295 others(21): Show |
p.Ala others(13): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 16/17 | 2989/5084 | 2952/3393 | 984/1130 | chr17 | TogoVar | ||
PEMT_chr17_17500563_17596708 | 17586208 | AAGAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 348 | 0.0029 | -12 | c.96+ others(27): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586216 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 348 | 0.0029 | -12 | c.96+ others(27): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586280 | GAAAGAAA others(5): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG02922.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0204a0002c0002t0001g0117 | 2 | 348 | 0.0058 | -12 | c.96+ others(27): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33385053 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0171 | 1 | 314 | 0.0032 | -12 | c.*22 others(23): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 1896 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33420702 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01255.hp2 others(10): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0003a0007c0009t0001 | a0001c0001t0001g0135a0001c0001t0003g0001a0001c0001t0003g0054others(8): Show | 13 | 314 | 0.0414 | -12 | c.672 others(29): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33423095 | TCATCCAT others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0132 | 1 | 314 | 0.0032 | -12 | c.672 others(29): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33462313 | GTGGTACC others(5): Show |
G | intron_variant | MODIFIER | HG02602.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0024 | 2 | 314 | 0.0064 | -12 | c.671 others(27): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7788940 | CTCTTACA others(5): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0187 | 1 | 410 | 0.0024 | -12 | c.592 others(27): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PER3_chr1_7779291_7850177 | 7797188 | GTGTGAGC others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(218): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0004a0001c0028others(11): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0016others(17): Show | a0001c0003t0001g0062a0001c0003t0001g0093a0001c0003t0001g0094others(213): Show | 221 | 410 | 0.5390 | -12 | c.645 others(29): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PER3_chr1_7779291_7850177 | 7808232 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(168): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(154): Show | 171 | 410 | 0.4171 | -12 | c.113 others(29): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PERCC1_chr16_1426078_1439441 | 1432701 | AGAGGAGG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG00621.hp2 HG01257.hp2 HG01258.hp2 others(13): Show |
a0003 | a0003c0004a0003c0021 | a0003c0004t0002a0003c0004t0037a0003c0021t0034 | a0003c0004t0002g0003a0003c0004t0002g0013a0003c0004t0037g0025others(1): Show | 16 | 378 | 0.0423 | -12 | c.131 others(19): Show |
p.Glu others(11): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 209/1926 | 131/804 | 44/267 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
PERM1_chr1_970198_987093 | 976642 | CTTCAGCC others(5): Show |
C | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 408 | 0.0025 | -12 | c.215 others(27): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PET117_chr20_18132863_18148169 | 18139664 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA19072.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0149 | 2 | 424 | 0.0047 | -12 | c.96+ others(27): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PEX12_chr17_35569795_35583571 | 35570872 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 436 | 0.0023 | -12 | c.*48 others(23): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 3922 | chr17 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35581273 | AATATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03239.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0003 | 2 | 436 | 0.0046 | -12 | c.-32 others(23): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2703 | chr17 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35583514 | TTCTCTCT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01069.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0002a0001c0001t0009g0008 | 6 | 436 | 0.0138 | -12 | c.-55 others(23): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4944 | chr17 | TogoVar | ||||||
PEX13_chr2_61012720_61056990 | 61012834 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0018 | 1 | 354 | 0.0028 | -12 | c.-49 others(23): Show |
PEX13 | ENSG00000162928.9 | transcript | ENST00000295030.6 | protein_coding | 4885 | chr2 | TogoVar | ||||||
PEX13_chr2_61012720_61056990 | 61054673 | GTGTGTAT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0001c0001t0010a0001c0001t0016others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0192a0001c0001t0003g0193others(7): Show | 20 | 354 | 0.0565 | -12 | c.*59 others(23): Show |
PEX13 | ENSG00000162928.9 | transcript | ENST00000295030.6 | protein_coding | 2684 | chr2 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10480829 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 258 | 0.0039 | -12 | c.36+ others(27): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10503303 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02809.hp1 HG02970.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0172a0002c0005t0001g0173a0002c0005t0001g0218 | 3 | 258 | 0.0116 | -12 | c.84+ others(27): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577554 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00621.hp1 NA18747.hp1 NA19012.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0049a0001c0001t0001g0069a0001c0004t0001g0047others(1): Show | 4 | 258 | 0.0155 | -12 | c.170 others(31): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577556 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0006t0001g0091 | 3 | 258 | 0.0116 | -12 | c.170 others(31): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577562 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0011a0001c0001t0001g0100a0001c0001t0001g0246others(3): Show | 6 | 258 | 0.0233 | -12 | c.170 others(31): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10620115 | AAAAAAGA others(5): Show |
A | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 258 | 0.0039 | -12 | c.384 others(29): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX1_chr7_92482025_92533520 | 92515067 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01934.hp1 NA18952.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0243a0001c0002t0002g0244a0001c0002t0002g0245 | 3 | 310 | 0.0097 | -12 | c.124 others(31): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
PEX1_chr7_92482025_92533520 | 92526086 | TGGTACTG others(5): Show |
T | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 310 | 0.0032 | -12 | c.129 others(29): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
PEX26_chr22_18072990_18110396 | 18081151 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0057a0001c0001t0169 | a0001c0001t0057g0150a0001c0001t0169g0151 | 2 | 398 | 0.0050 | -12 | c.371 others(29): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PEX26_chr22_18072990_18110396 | 18108631 | GACACACA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0092a0001c0001t0017g0093 | 2 | 398 | 0.0050 | -12 | c.*20 others(25): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 3236 | chr22 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 179799051 | CTGGTATT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00642.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(35): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(75): Show | 78 | 220 | 0.3546 | -12 | c.*27 others(23): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 15/15 | 2765 | chr3 | TogoVar | |||||
PEX5L_chr3_179789958_180041937 | 179829943 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01081.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0034a0001c0001t0046a0001c0001t0070others(2): Show | a0001c0001t0034g0175a0001c0001t0034g0176a0001c0001t0046g0112others(5): Show | 8 | 220 | 0.0364 | -12 | c.823 others(29): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 8/14 | chr3 | TogoVar |