| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OR1L3_chr9_122670130_122681104 | 122670871 | A | AGGAAGGA others(39): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 380 | 0.0026 | 46 | c.-42 others(57): Show |
OR1L3 | ENSG00000171481.5 | transcript | ENST00000304820.5 | protein_coding | 4258 | chr9 | TogoVar | ||||||
| OR2B2_chr6_27906185_27917396 | 27915297 | T | TTATATAT others(39): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG03139.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 398 | 0.0075 | 46 | c.-29 others(57): Show |
OR2B2 | ENSG00000168131.4 | transcript | ENST00000303324.4 | protein_coding | 2902 | chr6 | TogoVar | ||||||
| OR2B2_chr6_27906185_27917396 | 27915299 | T | TTATATAT others(39): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 398 | 0.0025 | 46 | c.-29 others(57): Show |
OR2B2 | ENSG00000168131.4 | transcript | ENST00000303324.4 | protein_coding | 2904 | chr6 | TogoVar | ||||||
| OR2C3_chr1_247519677_247541440 | 247522265 | A | ACCCGGCC others(39): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(235): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(51): Show | a0001c0001t0002g0002a0001c0001t0002g0029a0001c0001t0002g0032others(84): Show | 238 | 460 | 0.5174 | 46 | c.*92 others(57): Show |
OR2C3 | ENSG00000196242.10 | transcript | ENST00000641802.1 | protein_coding | 2411 | chr1 | TogoVar | ||||||
| OR2C3_chr1_247519677_247541440 | 247522265 | A | ACCTGGCC others(39): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0081a0001c0001t0082 | a0001c0001t0081g0127a0001c0001t0082g0128 | 2 | 460 | 0.0044 | 46 | c.*92 others(57): Show |
OR2C3 | ENSG00000196242.10 | transcript | ENST00000641802.1 | protein_coding | 2411 | chr1 | TogoVar | ||||||
| OR2C3_chr1_247519677_247541440 | 247522281 | T | TGTCCAGG others(39): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0029a0001c0001t0096others(1): Show | a0001c0001t0025g0020a0001c0001t0029g0059a0001c0001t0029g0107others(3): Show | 9 | 460 | 0.0196 | 46 | c.*92 others(57): Show |
OR2C3 | ENSG00000196242.10 | transcript | ENST00000641802.1 | protein_coding | 2395 | chr1 | TogoVar | ||||||
| OR2C3_chr1_247519677_247541440 | 247522281 | T | TGTCCAGG others(39): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0109 | 1 | 460 | 0.0022 | 46 | c.*92 others(57): Show |
OR2C3 | ENSG00000196242.10 | transcript | ENST00000641802.1 | protein_coding | 2395 | chr1 | TogoVar | ||||||
| OR2C3_chr1_247519677_247541440 | 247522281 | T | TGTCCGGG others(39): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0033a0001c0001t0098 | a0001c0001t0018g0060a0001c0001t0018g0105a0001c0001t0018g0125others(3): Show | 7 | 460 | 0.0152 | 46 | c.*92 others(57): Show |
OR2C3 | ENSG00000196242.10 | transcript | ENST00000641802.1 | protein_coding | 2395 | chr1 | TogoVar | ||||||
| OR2C3_chr1_247519677_247541440 | 247522285 | C | CGGGAGGG others(39): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 HG03927.hp1 |
a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0040 | 2 | 460 | 0.0044 | 46 | c.*92 others(57): Show |
OR2C3 | ENSG00000196242.10 | transcript | ENST00000641802.1 | protein_coding | 2391 | chr1 | TogoVar | ||||||
| OR2H1_chr6_29452155_29469328 | 29468000 | C | CTTTCTTT others(39): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0005 | 1 | 453 | 0.0022 | 46 | c.*52 others(57): Show |
OR2H1 | ENSG00000204688.10 | transcript | ENST00000377133.6 | protein_coding | 3673 | chr6 | TogoVar | ||||||
| OR2M3_chr1_248192265_248217925 | 248213483 | A | ATATATAT others(39): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 3 | 410 | 0.0073 | 46 | c.*94 others(57): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 559 | chr1 | TogoVar | ||||||
| OR4D10_chr11_59468315_59484361 | 59468674 | A | AGATAGAT others(39): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 430 | 0.0023 | 46 | c.-51 others(57): Show |
OR4D10 | ENSG00000254466.2 | transcript | ENST00000530162.2 | protein_coding | 4640 | chr11 | TogoVar | ||||||
| OR4D10_chr11_59468315_59484361 | 59483771 | T | TTATATAT others(39): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 430 | 0.0023 | 46 | c.*54 others(57): Show |
OR4D10 | ENSG00000254466.2 | transcript | ENST00000530162.2 | protein_coding | 4411 | chr11 | TogoVar | ||||||
| OR4F5_chr1_60419_76585 | 66461 | T | TATATAAT others(39): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 215 | 0.0047 | 46 | c.9+9 others(57): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| OR4M2B_chr15_21632909_21643992 | 21642077 | A | ATATATAC others(39): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0000 | 1 | 215 | 0.0047 | 46 | c.*31 others(57): Show |
OR4M2B | ENSG00000182974.3 | transcript | ENST00000332663.3 | protein_coding | 3086 | chr15 | TogoVar | ||||||
| OR51L1_chr11_4989851_5010536 | 5009469 | T | TAGTCACA others(39): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0005 | a0005c0006 | a0005c0006t0010 | a0005c0006t0010g0086 | 1 | 470 | 0.0021 | 46 | c.*95 others(57): Show |
OR51L1 | ENSG00000176798.3 | transcript | ENST00000641819.1 | protein_coding | 3934 | chr11 | TogoVar | ||||||
| OR52A1_chr11_5141824_5159757 | 5144529 | C | CCCTGGGC others(39): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0023 | 1 | 438 | 0.0023 | 46 | c.*69 others(57): Show |
OR52A1 | ENSG00000182070.7 | transcript | ENST00000380367.3 | protein_coding | 2294 | chr11 | TogoVar | ||||||
| OR52E5_chr11_5888208_5907730 | 5904203 | T | TGGGTGTG others(39): Show |
downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 464 | 0.0022 | 46 | c.*24 others(57): Show |
OR52E5 | ENSG00000277932.2 | transcript | ENST00000610445.2 | protein_coding | 1474 | chr11 | TogoVar | ||||||
| OR5D13_chr11_55768438_55779382 | 55773352 | C | CAACTCCA others(39): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 432 | 0.0023 | 46 | c.-86 others(53): Show |
OR5D13 | ENSG00000279761.2 | transcript | ENST00000623930.1 | protein_coding | 85 | chr11 | TogoVar | ||||||
| OR6C6_chr12_55288988_55301569 | 55301122 | A | AAGTTCAT others(39): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 482 | 0.0021 | 46 | c.-48 others(57): Show |
OR6C6 | ENSG00000188324.4 | transcript | ENST00000358433.3 | protein_coding | 4554 | chr12 | TogoVar | ||||||
| OR6J1_chr14_22625929_22649352 | 22636225 | G | GCCCTCTC others(39): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 362 | 0.0028 | 46 | c.-27 others(63): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| OR7C1_chr19_14793515_14840185 | 14814229 | A | AGTGAAAA others(39): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03540.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0348a0002c0002t0001g0027 | 3 | 408 | 0.0074 | 46 | c.-62 others(65): Show |
OR7C1 | ENSG00000127530.4 | transcript | ENST00000641666.2 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
| ORC3_chr6_87585135_87672451 | 87644079 | C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 378 | 0.0027 | 46 | c.138 others(65): Show |
ORC3 | ENSG00000135336.16 | transcript | ENST00000392844.8 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| OSBPL10_chr3_31655825_31986262 | 31965825 | T | TAAAATAT others(39): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(21): Show | a0001c0001t0001g0024a0001c0001t0001g0053a0001c0001t0001g0062others(53): Show | 56 | 186 | 0.3011 | 46 | c.281 others(65): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
| OSBPL9_chr1_51612092_51794219 | 51632560 | A | AAATAAAC others(39): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00741.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0092a0001c0001t0002g0001a0001c0001t0002g0082others(27): Show | 31 | 186 | 0.1667 | 46 | c.111 others(65): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| OSCAR_chr19_54089668_54105803 | 54089940 | G | GTTTTTTT others(39): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 HG01433.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0037 | 3 | 443 | 0.0068 | 46 | c.*52 others(57): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 4727 | chr19 | TogoVar | ||||||
| OSGIN1_chr16_83948240_83971332 | 83950538 | T | TACATGCA others(39): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0001a0001c0004t0004g0006 | 2 | 350 | 0.0057 | 46 | c.-28 others(57): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2701 | chr16 | TogoVar | ||||||
| OTOP1_chr4_4183726_4231929 | 4219809 | G | GTGTATAT others(39): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 428 | 0.0023 | 46 | c.403 others(63): Show |
OTOP1 | ENSG00000163982.6 | transcript | ENST00000296358.5 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31564387 | G | GTTTTTTT others(39): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0182 | 1 | 244 | 0.0041 | 46 | c.332 others(63): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 4/12 | chr15 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31860622 | G | GATAAATA others(39): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 244 | 0.0041 | 46 | c.-10 others(65): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
| OVCA2_chr17_2037022_2048425 | 2047911 | C | CTCTGGGG others(39): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 46 | c.*48 others(57): Show |
OVCA2 | ENSG00000262664.3 | transcript | ENST00000572195.3 | protein_coding | 4487 | chr17 | TogoVar | ||||||
| OXTR_chr3_8745381_8774613 | 8773182 | A | ATATAATC others(39): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01099.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(17): Show | 27 | 474 | 0.0570 | 46 | c.-41 others(57): Show |
OXTR | ENSG00000180914.11 | transcript | ENST00000316793.8 | protein_coding | 3570 | chr3 | TogoVar | ||||||
| OXTR_chr3_8745381_8774613 | 8773207 | A | ATATAATC others(39): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG01975.hp1 others(4): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0014 | a0001c0001t0001a0001c0002t0006a0001c0002t0010others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0002t0006g0186others(3): Show | 7 | 474 | 0.0148 | 46 | c.-42 others(57): Show |
OXTR | ENSG00000180914.11 | transcript | ENST00000316793.8 | protein_coding | 3595 | chr3 | TogoVar | ||||||
| P2RX2_chr12_132613776_132627388 | 132618232 | A | AAGAAAGA others(39): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 386 | 0.0026 | 46 | c.-58 others(55): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 543 | chr12 | TogoVar | ||||||
| P2RX4_chr12_121205129_121239106 | 121212824 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0337 | 1 | 388 | 0.0026 | 46 | c.134 others(63): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| P2RX7_chr12_121127876_121193032 | 121136023 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0321 | 1 | 366 | 0.0027 | 46 | c.125 others(63): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| P3H2_chr3_189951728_190125897 | 190007965 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0186 | 1 | 304 | 0.0033 | 46 | c.481 others(65): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
| P3H2_chr3_189951728_190125897 | 190041020 | C | CTATATAT others(39): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0080 | 1 | 304 | 0.0033 | 46 | c.481 others(65): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
| P4HA2_chr5_132185147_132232853 | 132208421 | G | GGGGAGGG others(39): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02622.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0101a0001c0001t0013g0102a0001c0001t0013g0161others(1): Show | 4 | 426 | 0.0094 | 46 | c.904 others(61): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | ||||||
| PACRG_chr6_162722974_163320500 | 162852020 | G | GAAGGAAA others(39): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 NA18965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038a0001c0001t0001g0111a0001c0001t0002g0054others(1): Show | 4 | 130 | 0.0308 | 46 | c.291 others(65): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PACRG_chr6_162722974_163320500 | 163291309 | A | ACCCTCTG others(39): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0030a0001c0001t0002g0035a0001c0001t0003g0102others(2): Show | 5 | 130 | 0.0385 | 46 | c.614 others(65): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PACSIN2_chr22_42864773_43020149 | 42975457 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0282 | 1 | 294 | 0.0034 | 46 | c.-78 others(65): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | ||||||
| PAGE1_chrX_49682447_49700984 | 49690088 | T | TACACATA others(39): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 322 | 0.0031 | 46 | c.293 others(61): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | ||||||
| PAGE2B_chrX_55070030_55083909 | 55082068 | C | CAGCACAC others(39): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 325 | 0.0031 | 46 | c.*32 others(57): Show |
PAGE2B | ENSG00000238269.9 | transcript | ENST00000374971.2 | protein_coding | 3160 | chrX | TogoVar | ||||||
| PAK2_chr3_196734857_196837647 | 196811293 | C | CTCCCTTC others(39): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0017 | a0001c0001t0005g0059a0001c0001t0007g0071a0001c0001t0017g0100others(2): Show | 5 | 178 | 0.0281 | 46 | c.773 others(61): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168625502 | G | GATAGATA others(39): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 156 | 0.0064 | 46 | c.909 others(65): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168793140 | T | TATATATG others(39): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0130 | 1 | 156 | 0.0064 | 46 | c.196 others(67): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168875042 | T | TCATACTA others(39): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02258.hp2 HG02486.hp2 others(6): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0007a0001c0002t0010a0002c0006t0007 | a0001c0002t0007g0010a0001c0002t0007g0050a0001c0002t0007g0057others(6): Show | 9 | 156 | 0.0577 | 46 | c.196 others(67): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALM2AKAP2_chr9_109775198_110177512 | 110076492 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02895.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0006t0002 | a0001c0001t0005g0108a0001c0006t0002g0198 | 2 | 222 | 0.0090 | 46 | c.583 others(65): 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(39): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0203 | 1 | 222 | 0.0045 | 46 | c.583 others(61): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |