view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALMD_chr1_99641113_99699535 | 99650285 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00639.hp2 others(48): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0013 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(40): Show |
51 | 68 | 0.7500 | -19 | c.45+ others(34): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652721 | AAAAGAAA others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0114 a0001c0001t0001g0233 others(5): Show |
8 | 378 | 0.0212 | -19 | c.45+ others(34): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67284547 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0282 | 1 | 137 | 0.0073 | -19 | c.367 others(36): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4351142 | CCGCCGCC others(12): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | 366 | 0.0055 | -19 | c.3+7 others(28): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM_chr5_102750305_103034716 | 102758068 | ATTTTGTT others(12): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp2 others(52): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0058 others(52): Show |
55 | 140 | 0.3929 | -19 | c.-37 others(38): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102758073 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 129 | 0.0078 | -19 | c.-37 others(38): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PANK1_chr10_89577988_89650242 | 89595830 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0222 | 1 | 359 | 0.0028 | -19 | c.900 others(36): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK2_chr20_3884387_3934887 | 3926878 | GTTGCTGC others(12): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02280.hp2 HG02572.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0015a0001c0001t0029a0001c0001t0034others(8): Show | a0001c0001t0015g0005 a0001c0001t0015g0280 a0001c0001t0015g0283 others(16): Show |
22 | 420 | 0.0524 | -19 | c.*35 others(30): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 7/7 | 3593 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PANX2_chr22_50165731_50185295 | 50168098 | ATGACTGA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02080.hp2 NA18983.hp1 others(4): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0001a0003c0006t0001 | a0001c0003t0001g0003 a0001c0003t0001g0095 a0003c0006t0001g0094 |
7 | 438 | 0.0160 | -19 | c.-26 others(30): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 2632 | chr22 | TogoVar | |||||||
PANX3_chr11_124606428_124625356 | 124616961 | CTCTCTCT others(12): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 418 | 0.0024 | -19 | c.325 others(34): Show |
PANX3 | ENSG00000154143.3 | transcript | ENST00000284288.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176794774 | AAGGGCAT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(65): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(43): Show | a0001c0001t0001g0020 a0001c0001t0004g0029 a0001c0001t0005g0109 others(65): Show |
68 | 116 | 0.5862 | -19 | c.513 others(38): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116385263 | AAATAAAT others(12): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG03139.hp2 |
a0002a0003 | a0002c0004a0003c0023 | a0002c0004t0008a0003c0023t0025 | a0002c0004t0008g0009 a0003c0023t0025g0089 |
2 | 232 | 0.0086 | -19 | c.477 others(38): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAQR3_chr4_78906878_78944438 | 78930757 | GCCCCTCT others(12): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0003 a0001c0001t0003g0034 a0001c0001t0003g0035 others(28): Show |
75 | 332 | 0.2259 | -19 | c.349 others(34): Show |
PAQR3 | ENSG00000163291.14 | transcript | ENST00000512733.5 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69300918 | TCTCTCTC others(12): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG02523.hp2 HG04184.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 others(4): Show |
7 | 262 | 0.0267 | -19 | c.-27 others(38): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69301859 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(66): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 others(66): Show |
69 | 72 | 0.9583 | -19 | c.-27 others(38): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR9_chr3_142949585_142968674 | 142955442 | TAAAAAAA others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0000 | 1 | 64 | 0.0156 | -19 | c.*67 others(30): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 1/1 | 6742 | chr3 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204888358 | GAAAGGGA others(12): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02622.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0015others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0008others(8): Show | a0001c0001t0001g0042 a0001c0001t0004g0017 a0001c0003t0008g0049 others(8): Show |
11 | 54 | 0.2037 | -19 | c.223 others(38): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205322889 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(6): Show | a0001c0001t0001g0053 a0001c0001t0004g0017 a0002c0002t0001g0008 others(7): Show |
10 | 11 | 0.9091 | -19 | c.263 others(40): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34129681 | TTTTTGTA others(12): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0003 | 1 | 98 | 0.0102 | -19 | c.354 others(38): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34355943 | AAAACAAA others(12): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 94 | 0.0106 | -19 | c.206 others(38): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 14/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34371514 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(6): Show | a0001c0001t0001g0084 a0001c0001t0005g0098 a0001c0002t0002g0002 others(8): Show |
11 | 98 | 0.1122 | -19 | c.170 others(36): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 12/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34681754 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0009 | a0001c0001t0002g0016 a0001c0002t0009g0091 |
2 | 96 | 0.0208 | -19 | c.222 others(38): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34681756 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0017 | 1 | 98 | 0.0102 | -19 | c.222 others(38): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34681764 | ATATATTT others(12): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0053 | 1 | 86 | 0.0116 | -19 | c.222 others(38): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD6B_chr20_50726580_50758741 | 50750954 | ATTTTTTT others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0001 a0001c0001t0029g0072 |
2 | 41 | 0.0488 | -19 | c.*48 others(28): Show |
PARD6B | ENSG00000124171.9 | transcript | ENST00000371610.7 | protein_coding | 3/3 | 480 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PARD6G_chr18_80152232_80252514 | 80252444 | GATTCATC others(12): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 380 | 0.0026 | -19 | c.-51 others(30): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 4931 | chr18 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882219 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 |
2 | 334 | 0.0060 | -19 | c.125 others(36): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882223 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA18981.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0206 |
2 | 333 | 0.0060 | -19 | c.125 others(36): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882227 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03486.hp2 HG03540.hp1 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0222 a0002c0007t0001g0221 |
2 | 350 | 0.0057 | -19 | c.125 others(36): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14463329 | AGGTAAAA others(12): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0152 | 1 | 168 | 0.0060 | -19 | c.167 others(40): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 22/23 | chr16 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143980319 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02896.hp2 others(5): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0003a0002c0007t0003 | a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0213 others(3): Show |
8 | 132 | 0.0606 | -19 | c.255 others(38): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122703005 | AAAAAACA others(12): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01169.hp1 others(7): Show |
a0003a0008 | a0003c0004a0003c0015a0008c0026 | a0003c0004t0003a0003c0004t0006a0003c0004t0019others(2): Show | a0003c0004t0003g0002 a0003c0004t0003g0156 a0003c0004t0003g0291 others(6): Show |
10 | 352 | 0.0284 | -19 | c.308 others(36): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARP2_chr14_20338635_20362904 | 20347384 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0014 |
4 | 414 | 0.0097 | -19 | c.324 others(34): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PARP2_chr14_20338635_20362904 | 20347392 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 384 | 0.0026 | -19 | c.324 others(34): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24437703 | TCAGGTAT others(12): Show |
T | intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0124 | 1 | 360 | 0.0028 | -19 | c.366 others(38): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 30/33 | chr13 | TogoVar | |||||||
PARP8_chr5_50661637_50851519 | 50740417 | TTGGAGCA others(12): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0012 | a0001c0012t0038 | a0001c0012t0038g0008 | 1 | 326 | 0.0031 | -19 | c.147 others(36): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PARPBP_chr12_102115183_102202520 | 102186106 | TTGGTCAT others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 342 | 0.0029 | -19 | c.126 others(38): Show |
PARPBP | ENSG00000185480.12 | transcript | ENST00000327680.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PARVG_chr22_44175925_44213469 | 44207289 | TGGGGAGG others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0343 | 1 | 420 | 0.0024 | -19 | c.*89 others(28): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 14/14 | 894 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVG_chr22_44175925_44213469 | 44207400 | TGGGGACG others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0003t0004a0001c0003t0006others(6): Show | a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0235 others(46): Show |
58 | 420 | 0.1381 | -19 | c.*98 others(28): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 14/14 | 980 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVG_chr22_44175925_44213469 | 44207406 | CGGGTGAG others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0253 | 1 | 420 | 0.0024 | -19 | c.*99 others(29): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 14/14 | 993 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61965121 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0059 | a0001c0059t0005 | a0001c0059t0005g0098 | 1 | 20 | 0.0500 | -19 | c.367 others(40): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613967 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 252 | 0.0040 | -19 | c.649 others(34): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAX2_chr10_100740582_100834944 | 100742843 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 HG04204.hp2 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0009 | a0001c0003t0006g0203 a0001c0003t0009g0179 |
2 | 22 | 0.0909 | -19 | c.-34 others(30): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 2738 | chr10 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222209696 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0120 | 1 | 3 | 0.3333 | -19 | c.117 others(38): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
PAX7_chr1_18625846_18753866 | 18681726 | TTTTATTT others(12): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0282 | 1 | 300 | 0.0033 | -19 | c.587 others(38): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAXIP1_chr7_154938690_155008124 | 154953133 | TAAGGTGA others(12): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00621.hp2 others(46): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0002t0001g0002 others(31): Show |
49 | 360 | 0.1361 | -19 | c.282 others(38): Show |
PAXIP1 | ENSG00000157212.20 | transcript | ENST00000404141.6 | protein_coding | 16/20 | chr7 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52596436 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01257.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0002a0001c0001t0008a0002c0009t0017 | a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0008g0111 others(1): Show |
4 | 36 | 0.1111 | -19 | c.282 others(38): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 19/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52676134 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 others(4): Show |
7 | 298 | 0.0235 | -19 | c.236 others(36): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 3/31 | chr3 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164655455 | TGCTATGG others(12): Show |
T | intron_variant | MODIFIER | HG01070.hp2 NA18962.hp1 NA18984.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0148 a0001c0001t0002g0083 a0001c0001t0003g0119 others(2): Show |
5 | 184 | 0.0272 | -19 | c.265 others(38): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125943352 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02109.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0204 a0001c0001t0001g0280 a0001c0001t0001g0286 others(4): Show |
7 | 11 | 0.6364 | -19 | c.843 others(36): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |