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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PACRGL_chr4_20695458_20737557 | 20729590 | C | CTTGTTTT others(26): Show |
3_prime_UTR_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0162 | 1 | 308 | 0.0032 | 33 | c.*22 others(44): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 9/9 | 2256 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162852001 | G | GAGGAAGG others(26): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02818.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0003g0014 |
3 | 101 | 0.0297 | 33 | c.291 others(52): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162852005 | G | GAGGAAGG others(26): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 66 | 0.0152 | 33 | c.291 others(52): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163084851 | C | CATATATA others(26): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01109.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0026 others(47): Show |
50 | 122 | 0.4098 | 33 | c.464 others(50): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163087535 | A | AAGGATGG others(26): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 130 | 0.0077 | 33 | c.464 others(50): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163087596 | A | AAGGTGAG others(26): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01109.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 others(55): Show |
58 | 130 | 0.4462 | 33 | c.464 others(50): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163300808 | A | ATGAGTTT others(26): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01243.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(34): Show |
37 | 130 | 0.2846 | 33 | c.614 others(52): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163301038 | G | GCCCGTGA others(26): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01243.hp1 others(31): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0020 others(31): Show |
34 | 129 | 0.2636 | 33 | c.614 others(52): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66164596 | A | ATATATAA others(26): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(76): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0240 a0001c0001t0001g0266 a0001c0001t0001g0289 others(76): Show |
79 | 316 | 0.2500 | 33 | c.357 others(52): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102899858 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0170 | 1 | 42 | 0.0238 | 33 | c.169 others(50): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196751695 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19240.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0019 | a0001c0002t0001g0003 a0001c0004t0019g0057 |
2 | 101 | 0.0198 | 33 | c.-22 others(52): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833468 | A | ATATATAT others(26): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 59 | 0.0169 | 33 | c.*50 others(44): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 822 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196834252 | C | CAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0144 | 1 | 129 | 0.0078 | 33 | c.*58 others(44): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1606 | chr3 | TogoVar | |||||||
PAK4_chr19_39120786_39184404 | 39130261 | A | AAGGATGG others(26): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(134): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0126 others(134): Show |
137 | 360 | 0.3806 | 33 | c.-96 others(50): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39130261 | A | AAGGATGG others(26): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02258.hp2 others(2): Show |
a0001a0002 | a0001c0009a0002c0003 | a0001c0009t0005a0002c0003t0005 | a0001c0009t0005g0163 a0001c0009t0005g0174 a0002c0003t0005g0138 others(2): Show |
5 | 228 | 0.0219 | 33 | c.-96 others(50): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39143157 | T | TCCCACTA others(26): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 366 | 0.0027 | 33 | c.-96 others(52): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110035291 | C | CATATGTA others(26): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02280.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0078 others(15): Show |
18 | 220 | 0.0818 | 33 | c.582 others(52): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0153 a0001c0001t0005g0107 |
2 | 130 | 0.0154 | 33 | c.583 others(48): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67284429 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0277 | 1 | 121 | 0.0083 | 33 | c.367 others(50): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24638322 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0326 | 1 | 283 | 0.0035 | 33 | c.118 others(50): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168573416 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0094 | 1 | 31 | 0.0323 | 33 | c.29- others(48): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PAOX_chr10_133374262_133396694 | 133379216 | C | CCTCCCAG others(26): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 344 | 0.0029 | 33 | c.-10 others(42): Show |
PAOX | ENSG00000148832.16 | transcript | ENST00000278060.10 | protein_coding | 45 | chr10 | TogoVar | |||||||
PAPSS2_chr10_87654878_87752705 | 87713312 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02135.hp2 HG02273.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010 | a0001c0001t0002g0061 a0001c0001t0002g0114 a0001c0001t0002g0118 others(4): Show |
7 | 105 | 0.0667 | 33 | c.381 others(46): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300948 | C | CTTCTTTC others(26): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 106 | 0.0094 | 33 | c.-27 others(52): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322751 | A | AGAAGAAG others(26): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 222 | 0.0045 | 33 | c.-27 others(54): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322832 | A | AGAAGAAG others(26): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0091 others(3): Show |
6 | 226 | 0.0265 | 33 | c.-27 others(54): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205036644 | G | GTATATAT others(26): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02622.hp2 others(5): Show |
a0001a0003a0008others(2): Show | a0001c0003a0001c0015a0003c0005others(5): Show | a0001c0003t0008a0001c0015t0017a0003c0005t0001others(5): Show | a0001c0003t0008g0049 a0001c0015t0017g0015 a0003c0005t0001g0024 others(5): Show |
8 | 51 | 0.1569 | 33 | c.395 others(52): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205057325 | T | TATGTATA others(26): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG03130.hp2 |
a0001a0005 | a0001c0003a0005c0013 | a0001c0003t0016a0005c0013t0001a0005c0013t0003 | a0001c0003t0016g0046 a0005c0013t0001g0001 a0005c0013t0003g0002 |
3 | 47 | 0.0638 | 33 | c.504 others(50): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205248380 | T | TTGGTGGT others(26): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0007 | a0007c0028 | a0007c0028t0003 | a0007c0028t0003g0007 | 1 | 40 | 0.0250 | 33 | c.218 others(52): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205331782 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0017 | a0007c0017t0012 | a0007c0017t0012g0006 | 1 | 5 | 0.2000 | 33 | c.263 others(54): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD6B_chr20_50726580_50758741 | 50750954 | A | ATTTTTTT others(26): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0001 | 1 | 40 | 0.0250 | 33 | c.*49 others(42): Show |
PARD6B | ENSG00000124171.9 | transcript | ENST00000371610.7 | protein_coding | 3/3 | 499 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PARN_chr16_14430701_14635260 | 14501435 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0154 a0001c0001t0006g0080 |
2 | 8 | 0.2500 | 33 | c.148 others(54): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 21/23 | chr16 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14574146 | C | CTGAGATG others(26): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 168 | 0.0060 | 33 | c.126 others(52): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 18/23 | chr16 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122677565 | A | AAAAAAAT others(26): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031 | 1 | 213 | 0.0047 | 33 | c.-33 others(44): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 3273 | chr3 | TogoVar | |||||||
PARP16_chr15_65253099_65291883 | 65273276 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02004.hp2 HG02148.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0007 a0001c0002t0001g0146 a0001c0002t0001g0149 others(1): Show |
6 | 82 | 0.0732 | 33 | c.175 others(50): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(26): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01496.hp1 HG02630.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0008a0001c0002t0013a0001c0002t0016others(2): Show | a0001c0001t0008g0086 a0001c0002t0013g0327 a0001c0002t0016g0104 others(2): Show |
5 | 65 | 0.0769 | 33 | c.113 others(52): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(26): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01934.hp2 HG02056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010 | a0001c0001t0001g0002 a0001c0001t0001g0267 a0001c0001t0006g0245 others(1): Show |
4 | 64 | 0.0625 | 33 | c.113 others(52): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066807 | C | CCTCCTCC others(26): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0232 | 1 | 330 | 0.0030 | 33 | c.113 others(52): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44112886 | A | AAGTAAGG others(26): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02148.hp2 HG02698.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0010 | a0001c0001t0003g0217 a0001c0001t0003g0252 a0001c0002t0010g0066 |
3 | 330 | 0.0091 | 33 | c.274 others(50): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44113910 | G | GCACCAGC others(26): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02630.hp1 HG02735.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0071others(3): Show | a0001c0001t0001g0282 a0001c0001t0005g0080 a0001c0001t0071g0330 others(3): Show |
6 | 229 | 0.0262 | 33 | c.274 others(50): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44114154 | T | TGGCCCTG others(26): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0027 | a0001c0027t0039 | a0001c0027t0039g0319 | 1 | 326 | 0.0031 | 33 | c.274 others(50): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44114683 | A | AAGTATGG others(26): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 330 | 0.0030 | 33 | c.274 others(50): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44115454 | G | GTAAGGCC others(26): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0027 | a0001c0027t0039 | a0001c0027t0039g0319 | 1 | 309 | 0.0032 | 33 | c.274 others(50): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562857 | C | CCGGGCGG others(26): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0217 | 1 | 192 | 0.0052 | 33 | c.-10 others(44): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 817 | chrX | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151645904 | T | TTTGTTTT others(26): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03239.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0019 a0001c0002t0002g0014 |
2 | 19 | 0.1053 | 33 | c.630 others(50): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241120492 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02738.hp1 HG04204.hp2 others(5): Show |
a0004a0005 | a0004c0004a0005c0013a0005c0021 | a0004c0004t0001a0005c0013t0002a0005c0021t0002 | a0004c0004t0001g0204 a0004c0004t0001g0208 a0004c0004t0001g0209 others(5): Show |
8 | 343 | 0.0233 | 33 | c.307 others(52): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241120496 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0004 | a0004c0018 | a0004c0018t0002 | a0004c0018t0002g0057 | 1 | 374 | 0.0027 | 33 | c.307 others(52): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PAXIP1_chr7_154938690_155008124 | 154977889 | T | TAACTTTT others(26): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01257.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0002a0001c0004a0001c0014 | a0001c0002t0001a0001c0002t0006a0001c0004t0001others(2): Show | a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 others(13): Show |
16 | 353 | 0.0453 | 33 | c.439 others(50): Show |
PAXIP1 | ENSG00000157212.20 | transcript | ENST00000404141.6 | protein_coding | 5/20 | chr7 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52578398 | G | GAACAGAT others(26): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0118 | 1 | 298 | 0.0034 | 33 | c.357 others(50): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 23/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52612258 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0261 a0001c0003t0001g0262 |
2 | 137 | 0.0146 | 33 | c.197 others(52): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 17/31 | chr3 | TogoVar |