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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OTUD7A_chr15_31470398_31875673 | 31604552 | A | ACTGCACA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(70): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0021others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0236 others(70): Show |
73 | 174 | 0.4195 | 9 | c.152 others(28): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31664289 | G | GCAGTGTA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(79): Show | a0001c0001t0002g0119 a0001c0001t0002g0157 a0001c0001t0002g0167 others(116): Show |
119 | 244 | 0.4877 | 9 | c.-99 others(26): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
OVCH1_chr12_29434853_29502686 | 29483238 | C | CCCTAGAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01106.hp2 others(7): Show |
a0002a0014a0016 | a0002c0002a0002c0068a0002c0070others(2): Show | a0002c0002t0001a0002c0068t0001a0002c0070t0001others(2): Show | a0002c0002t0001g0090 a0002c0002t0001g0144 a0002c0002t0001g0145 others(7): Show |
10 | 398 | 0.0251 | 9 | c.107 others(28): Show |
OVCH1 | ENSG00000187950.9 | transcript | ENST00000537054.2 | protein_coding | 9/25 | chr12 | TogoVar | |||||||
OVCH2_chr11_7684437_7711477 | 7687307 | G | GGAATAAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG04228.hp1 NA18973.hp2 |
a0001a0003a0027 | a0001c0001a0003c0008a0027c0030 | a0001c0001t0002a0003c0008t0003a0027c0030t0003 | a0001c0001t0002g0048 a0003c0008t0003g0144 a0027c0030t0003g0184 |
3 | 342 | 0.0088 | 9 | c.*23 others(20): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 2129 | chr11 | TogoVar | |||||||
OVOL2_chr20_18019163_18062916 | 18039607 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00733.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0116 a0001c0001t0001g0144 others(22): Show |
30 | 281 | 0.1068 | 9 | c.511 others(26): Show |
OVOL2 | ENSG00000125850.11 | transcript | ENST00000278780.7 | protein_coding | 3/3 | chr20 | TogoVar | |||||||
OVOL2_chr20_18019163_18062916 | 18059394 | C | CGGAGGAG others(2): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0005 | a0001c0001t0001g0261 a0001c0001t0001g0262 a0002c0003t0005g0036 |
3 | 211 | 0.0142 | 9 | c.-17 others(20): Show |
OVOL2 | ENSG00000125850.11 | transcript | ENST00000278780.7 | protein_coding | 1479 | chr20 | TogoVar | |||||||
OXER1_chr2_42757499_42769135 | 42765676 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00738.hp2 others(21): Show |
a0001a0002a0008 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0003others(3): Show | a0001c0002t0002g0000 a0001c0002t0004g0000 a0001c0003t0003g0000 others(3): Show |
24 | 237 | 0.1013 | 9 | c.-16 others(20): Show |
OXER1 | ENSG00000162881.7 | transcript | ENST00000378661.4 | protein_coding | 1542 | chr2 | TogoVar | |||||||
OXER1_chr2_42757499_42769135 | 42765685 | A | AAAACAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0000 | 7 | 423 | 0.0165 | 9 | c.-16 others(20): Show |
OXER1 | ENSG00000162881.7 | transcript | ENST00000378661.4 | protein_coding | 1551 | chr2 | TogoVar | |||||||
OXER1_chr2_42757499_42769135 | 42766818 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02895.hp1 HG03942.hp2 others(14): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0000 a0002c0001t0001g0000 |
17 | 92 | 0.1848 | 9 | c.-27 others(20): Show |
OXER1 | ENSG00000162881.7 | transcript | ENST00000378661.4 | protein_coding | 2684 | chr2 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106316717 | C | CTATCTAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03139.hp1 NA18941.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(1): Show | a0001c0001t0001g0091 a0001c0001t0001g0136 a0001c0001t0011g0079 others(2): Show |
5 | 86 | 0.0581 | 9 | c.-13 others(30): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106653081 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0098 a0001c0001t0002g0014 |
2 | 131 | 0.0153 | 9 | c.221 others(28): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 3/16 | chr8 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106671963 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0071 a0001c0001t0002g0083 a0001c0001t0003g0049 others(1): Show |
4 | 110 | 0.0364 | 9 | c.221 others(26): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXSR1_chr3_38160537_38260484 | 38178621 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0023 |
3 | 218 | 0.0138 | 9 | c.71- others(24): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38191758 | T | TGTGAGAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(134): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0063 others(133): Show |
137 | 245 | 0.5592 | 9 | c.292 others(24): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38219779 | A | AGATGATG others(2): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02698.hp2 NA18985.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0106 a0001c0001t0001g0242 a0001c0001t0003g0151 others(1): Show |
4 | 35 | 0.1143 | 9 | c.491 others(26): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
P2RX4_chr12_121205129_121239106 | 121209753 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0002c0002others(3): Show | a0001c0003t0001a0001c0005t0003a0002c0002t0001others(3): Show | a0001c0003t0001g0015 a0001c0003t0001g0035 a0001c0003t0001g0210 others(37): Show |
49 | 145 | 0.3379 | 9 | c.-41 others(18): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 375 | chr12 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3685847 | G | GGCTCTCC others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01516.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0240 a0001c0001t0001g0261 others(4): Show |
8 | 227 | 0.0352 | 9 | c.981 others(26): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121130825 | A | AGAAAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG03516.hp2 |
a0004a0010a0023 | a0004c0003a0010c0010a0023c0025 | a0004c0003t0020a0010c0010t0025a0023c0025t0015 | a0004c0003t0020g0245 a0010c0010t0025g0281 a0023c0025t0015g0204 |
3 | 325 | 0.0092 | 9 | c.-21 others(20): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2050 | chr12 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121175310 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01243.hp2 HG01891.hp1 others(20): Show |
a0004a0009a0010others(6): Show | a0004c0003a0009c0009a0010c0010others(6): Show | a0004c0003t0004a0004c0003t0008a0004c0003t0010others(10): Show | a0004c0003t0004g0231 a0004c0003t0008g0242 a0004c0003t0010g0299 others(20): Show |
23 | 247 | 0.0931 | 9 | c.882 others(22): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RY1_chr3_152830131_152846439 | 152830688 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 HG02602.hp1 HG02602.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0011a0001c0003t0003 | a0001c0001t0001g0000 a0001c0002t0011g0000 a0001c0003t0003g0000 |
5 | 157 | 0.0318 | 9 | c.-50 others(20): Show |
P2RY1 | ENSG00000169860.7 | transcript | ENST00000305097.6 | protein_coding | 4442 | chr3 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1461935 | T | TATCTATC others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00673.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0055 others(13): Show |
16 | 113 | 0.1416 | 9 | c.*35 others(20): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 645 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1514830 | T | TTTCCTTC others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0024a0001c0001t0027a0001c0003t0001others(1): Show | a0001c0001t0024g0066 a0001c0001t0027g0047 a0001c0003t0001g0040 others(1): Show |
4 | 95 | 0.0421 | 9 | c.-25 others(28): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1514835 | T | TTCCCTTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp1 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(70): Show |
73 | 112 | 0.6518 | 9 | c.-25 others(28): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73019730 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 others(53): Show |
56 | 57 | 0.9825 | 9 | c.124 others(28): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 10/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73049128 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 others(90): Show |
94 | 232 | 0.4052 | 9 | c.900 others(26): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 7/14 | chr10 | TogoVar | |||||||
P4HA2_chr5_132185147_132232853 | 132188280 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0024 | a0001c0001t0002g0270 a0001c0001t0011g0257 a0001c0001t0011g0303 others(2): Show |
5 | 352 | 0.0142 | 9 | c.*47 others(20): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 1866 | chr5 | TogoVar | |||||||
P4HA3_chr11_74261657_74316640 | 74281869 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02257.hp1 others(21): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0004c0006t0001 | a0001c0001t0001g0040 a0001c0001t0001g0111 a0001c0001t0001g0168 others(19): Show |
24 | 158 | 0.1519 | 9 | c.111 others(28): Show |
P4HA3 | ENSG00000149380.12 | transcript | ENST00000331597.9 | protein_coding | 7/12 | chr11 | TogoVar | |||||||
PABIR3_chrX_134802237_134859832 | 134849869 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 NA18965.hp1 NA19004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0124 a0001c0001t0001g0157 others(2): Show |
5 | 14 | 0.3571 | 9 | c.589 others(24): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PABPC4_chr1_39555816_39581790 | 39558101 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG01255.hp1 HG01255.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(4): Show |
16 | 28 | 0.5714 | 9 | c.*30 others(20): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 2714 | chr1 | TogoVar | |||||||
PACRGL_chr4_20695458_20737557 | 20729466 | A | AACTAATT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01070.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0019others(5): Show | a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0016 others(23): Show |
53 | 410 | 0.1293 | 9 | c.*21 others(20): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 9/9 | 2126 | chr4 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162852004 | G | GAAGGAAG others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 others(5): Show |
8 | 130 | 0.0615 | 9 | c.291 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 162852012 | G | GAAGGAAG others(2): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0015 |
2 | 130 | 0.0154 | 9 | c.291 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162861049 | T | TGGACAAG others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0002 others(3): Show |
6 | 130 | 0.0462 | 9 | c.291 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162884723 | C | CGTCTCTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02572.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0002g0042 a0001c0001t0002g0048 others(7): Show |
10 | 130 | 0.0769 | 9 | c.291 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162947364 | A | ATGATTAT others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0103 a0001c0001t0002g0050 |
2 | 40 | 0.0500 | 9 | c.292 others(30): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 162969046 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01243.hp1 HG01943.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0038 others(13): Show |
16 | 56 | 0.2857 | 9 | c.292 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163168558 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(109): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(109): Show |
112 | 130 | 0.8615 | 9 | c.613 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163175744 | A | AAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0123 a0001c0001t0003g0025 |
2 | 45 | 0.0444 | 9 | c.613 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66081406 | T | TCCGTCTT others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03579.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0310 a0001c0001t0005g0205 a0001c0001t0005g0206 |
3 | 320 | 0.0094 | 9 | c.356 others(28): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 42982869 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02135.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0013 | a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0099 others(3): Show |
6 | 150 | 0.0400 | 9 | c.-78 others(28): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 42987530 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01884.hp1 HG02055.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0182 a0001c0001t0002g0191 a0001c0001t0002g0192 others(19): Show |
23 | 24 | 0.9583 | 9 | c.-78 others(28): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 43010398 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18952.hp1 NA18964.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0066 others(3): Show |
6 | 91 | 0.0659 | 9 | c.-78 others(26): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PADI1_chr1_17200128_17251007 | 17215378 | T | TTCATCAT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(34): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0021others(9): Show | a0001c0001t0001g0141 a0001c0001t0001g0257 a0001c0001t0001g0267 others(33): Show |
37 | 382 | 0.0969 | 9 | c.93- others(24): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PADI4_chr1_17303197_17369004 | 17303761 | C | CTCCTCTG others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(199): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0009others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(28): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0020 others(192): Show |
202 | 370 | 0.5459 | 9 | c.-44 others(20): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 4435 | chr1 | TogoVar | |||||||
PADI4_chr1_17303197_17369004 | 17303763 | C | CCTCTGAG others(2): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02630.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0015 others(2): Show |
5 | 370 | 0.0135 | 9 | c.-44 others(20): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 4433 | chr1 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117168446 | G | GTTTGTTG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0060others(1): Show | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0023 others(27): Show |
44 | 173 | 0.2543 | 9 | c.*75 others(18): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 6/6 | 751 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAG1_chr8_80962810_81117068 | 81085972 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02145.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0012a0001c0002t0061a0001c0002t0083others(3): Show | a0001c0001t0012g0036 a0001c0002t0061g0017 a0001c0002t0083g0243 others(3): Show |
6 | 56 | 0.1071 | 9 | c.-23 others(30): Show |
PAG1 | ENSG00000076641.4 | transcript | ENST00000220597.4 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102899858 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02004.hp2 HG02109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0002a0001c0001t0012a0001c0004t0002others(2): Show | a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0156 others(10): Show |
14 | 55 | 0.2545 | 9 | c.169 others(26): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
PAICS_chr4_56431260_56469578 | 56438403 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | NA18994.hp1 NA18997.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0023g0204 |
3 | 377 | 0.0080 | 9 | c.16+ others(24): Show |
PAICS | ENSG00000128050.9 | transcript | ENST00000512576.3 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77477567 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 HG02451.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0228 a0001c0001t0003g0245 a0001c0001t0003g0254 others(3): Show |
6 | 30 | 0.2000 | 9 | c.-40 others(20): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 3474 | chr11 | TogoVar |