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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P2RX7_chr12_121127876_121193032 | 121136023 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01358.hp1 others(15): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0004a0005c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0003c0004t0001others(7): Show | a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 others(15): Show |
18 | 366 | 0.0492 | 21 | c.125 others(38): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121136023 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02293.hp1 NA19030.hp1 |
a0001a0016 | a0001c0001a0016c0016 | a0001c0001t0001a0016c0016t0002 | a0001c0001t0001g0169 a0016c0016t0002g0168 |
2 | 366 | 0.0055 | 21 | c.125 others(38): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189970191 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02109.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0141 a0001c0002t0009g0094 |
2 | 304 | 0.0066 | 21 | c.189 others(38): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73046755 | T | TGGGGGGG others(14): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0053 | 1 | 234 | 0.0043 | 21 | c.107 others(38): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 8/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093873 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 234 | 0.0043 | 21 | c.-33 others(38): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
PABPC1L_chr20_44905060_44944316 | 44931061 | T | TTCCCTTC others(14): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03654.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 a0001c0001t0002g0251 a0001c0001t0002g0257 |
3 | 396 | 0.0076 | 21 | c.123 others(38): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PABPC1_chr8_100697916_100727088 | 100700663 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01261.hp2 HG04199.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0109 |
9 | 416 | 0.0216 | 21 | c.*26 others(32): Show |
PABPC1 | ENSG00000070756.17 | transcript | ENST00000318607.10 | protein_coding | 2252 | chr8 | TogoVar | |||||||
PACC1_chr1_212358928_212419886 | 212375127 | T | TCTATCAT others(14): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 374 | 0.0027 | 21 | c.891 others(34): Show |
PACC1 | ENSG00000065600.13 | transcript | ENST00000261455.9 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
PACRGL_chr4_20695458_20737557 | 20729510 | A | ATGCCAGA others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02738.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0144 a0001c0001t0020g0145 |
2 | 412 | 0.0049 | 21 | c.*21 others(32): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 9/9 | 2191 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162847039 | C | CGCTGACT others(14): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0118 others(7): Show |
10 | 130 | 0.0769 | 21 | c.291 others(40): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162847086 | C | CCCACTGT others(14): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01943.hp1 HG02109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0108 a0001c0001t0001g0110 others(12): Show |
15 | 130 | 0.1154 | 21 | c.291 others(40): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162852001 | G | GAGGAAGG others(14): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 130 | 0.0077 | 21 | c.291 others(40): 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(14): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 130 | 0.0077 | 21 | c.291 others(40): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163177710 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 130 | 0.0077 | 21 | c.613 others(40): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66202726 | G | GGGGAAAA others(14): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 322 | 0.0031 | 21 | c.445 others(38): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | chr11 | TogoVar | |||||||
PACS1_chr11_66065272_66249744 | 66202742 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 322 | 0.0031 | 21 | c.445 others(38): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66202742 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 322 | 0.0031 | 21 | c.445 others(38): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66202742 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 322 | 0.0031 | 21 | c.445 others(38): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACSIN1_chr6_34461076_34540223 | 34508100 | T | TGTTTGTT others(14): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0064 a0001c0001t0015g0079 |
2 | 310 | 0.0065 | 21 | c.-63 others(40): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 42884014 | A | AAAAAAGA others(14): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 others(4): Show |
7 | 294 | 0.0238 | 21 | c.785 others(36): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 6/10 | chr22 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 42954883 | A | AAACTGGT others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02257.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(25): Show |
28 | 294 | 0.0952 | 21 | c.-77 others(40): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 42982888 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01952.hp2 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0013 a0001c0002t0003g0020 a0001c0002t0003g0032 |
3 | 294 | 0.0102 | 21 | c.-78 others(40): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 43010398 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19063.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 a0001c0002t0003g0026 |
2 | 294 | 0.0068 | 21 | c.-78 others(38): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 43010398 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01261.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0173 a0001c0002t0003g0021 a0001c0002t0003g0022 others(7): Show |
10 | 294 | 0.0340 | 21 | c.-78 others(38): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 43010398 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00741.hp2 others(15): Show |
a0001a0002a0003 | a0001c0002a0002c0004a0003c0006 | a0001c0002t0003a0001c0002t0022a0002c0004t0003others(1): Show | a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 others(15): Show |
18 | 294 | 0.0612 | 21 | c.-78 others(38): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 43010398 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01496.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0003a0002c0004t0003 | a0001c0002t0003g0003 a0001c0002t0003g0012 a0001c0002t0003g0013 others(4): Show |
7 | 294 | 0.0238 | 21 | c.-78 others(38): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 43010398 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0008 | 1 | 294 | 0.0034 | 21 | c.-78 others(38): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 43010398 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 | 1 | 294 | 0.0034 | 21 | c.-78 others(38): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PADI1_chr1_17200128_17251007 | 17248636 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0010 | 1 | 406 | 0.0025 | 21 | c.*43 others(32): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 2630 | chr1 | TogoVar | |||||||
PADI3_chr1_17244098_17289233 | 17248636 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 368 | 0.0027 | 21 | c.-50 others(30): Show |
PADI3 | ENSG00000142619.4 | transcript | ENST00000375460.3 | protein_coding | 461 | chr1 | TogoVar | |||||||
PADI6_chr1_17367196_17406699 | 17379111 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 NA18983.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0005a0002c0005t0005 | a0001c0001t0005g0044 a0001c0001t0005g0294 a0002c0005t0005g0345 |
3 | 412 | 0.0073 | 21 | c.368 others(36): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PADI6_chr1_17367196_17406699 | 17398662 | C | CACCCACC others(14): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 412 | 0.0024 | 21 | c.169 others(36): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 14/15 | chr1 | TogoVar | |||||||
PADI6_chr1_17367196_17406699 | 17398662 | C | CCCCCACC others(14): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 412 | 0.0024 | 21 | c.169 others(36): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2623752 | A | AGGTAGCT others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG01070.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0234 a0001c0001t0003g0217 a0001c0001t0003g0225 others(48): Show |
51 | 280 | 0.1821 | 21 | c.-19 others(42): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102895869 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0285 | 1 | 312 | 0.0032 | 21 | c.169 others(36): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102895869 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18522.hp2 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0301 a0001c0004t0008g0303 |
2 | 312 | 0.0064 | 21 | c.169 others(36): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43531656 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG02040.hp1 others(22): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0009 | a0001c0001t0001a0001c0006t0001a0005c0009t0001 | a0001c0001t0001g0002 a0001c0001t0001g0182 a0001c0001t0001g0185 others(20): Show |
25 | 350 | 0.0714 | 21 | c.125 others(40): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77415976 | G | GTATTATT others(14): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01978.hp1 HG02145.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(20): Show |
23 | 302 | 0.0762 | 21 | c.-21 others(40): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77429056 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02148.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0144 others(2): Show |
5 | 302 | 0.0166 | 21 | c.-21 others(40): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196735294 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 NA18953.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0007g0029 |
3 | 178 | 0.0169 | 21 | c.-48 others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 4562 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196751695 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0063 | 1 | 178 | 0.0056 | 21 | c.-22 others(40): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196806576 | C | CAGCTGAA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0113 | 1 | 178 | 0.0056 | 21 | c.469 others(30): Show |
p.Glu others(34): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/15 | 811/6139 | 489/1575 | 163/524 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
PAK2_chr3_196734857_196837647 | 196833454 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0017 | 1 | 178 | 0.0056 | 21 | c.*50 others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 808 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833456 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0165 | 1 | 178 | 0.0056 | 21 | c.*50 others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 810 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833462 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 NA18995.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0065 | a0001c0001t0002g0097 a0001c0001t0018g0084 a0001c0001t0065g0074 |
3 | 178 | 0.0169 | 21 | c.*50 others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 816 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833470 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0129 | 1 | 178 | 0.0056 | 21 | c.*50 others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 824 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196833472 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 178 | 0.0056 | 21 | c.*50 others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 826 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196834252 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0021a0001c0001t0033others(1): Show | a0001c0001t0007g0071 a0001c0001t0021g0042 a0001c0001t0033g0043 others(1): Show |
4 | 178 | 0.0225 | 21 | c.*58 others(32): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1606 | chr3 | TogoVar | |||||||
PAK4_chr19_39120786_39184404 | 39145800 | C | CTGCCCAC others(14): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 368 | 0.0027 | 21 | c.-96 others(40): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39165192 | G | GATAATAA others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01168.hp1 others(18): Show |
a0001a0003a0018 | a0001c0001a0001c0024a0003c0013others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0064 others(18): Show |
21 | 368 | 0.0571 | 21 | c.-95 others(38): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |