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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPFIA2_chr12_81252975_81764350 | 81592815 | GTGCGATC others(18): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(113): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0052 others(113): Show |
116 | 168 | 0.6905 | -25 | c.303 others(44): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPIAL4A_chr1_120884771_120895530 | 120889441 | AAGAAGAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 276 | 0.0036 | -25 | c.-37 others(34): Show |
PPIAL4A | ENSG00000263353.4 | transcript | ENST00000577856.3 | protein_coding | 329 | chr1 | TogoVar | |||||||
PPIAL4G_chr1_148477548_148488302 | 148483583 | CTTTCTTT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 448 | 0.0022 | -25 | c.-35 others(34): Show |
PPIAL4G | ENSG00000236334.3 | transcript | ENST00000419275.3 | protein_coding | 282 | chr1 | TogoVar | |||||||
PPM1E_chr17_58750854_58990179 | 58816770 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0127 | 1 | 307 | 0.0033 | -25 | c.464 others(44): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PPM1H_chr12_62638994_62940150 | 62859245 | CAAAAAAC others(18): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 250 | 0.0040 | -25 | c.246 others(44): Show |
PPM1H | ENSG00000111110.12 | transcript | ENST00000228705.7 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706439 | ACACACAC others(18): Show |
A | downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 420 | 0.0024 | -25 | c.*36 others(36): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3558 | chr1 | TogoVar | |||||||
PPM1L_chr3_160751231_161083902 | 160954936 | CTTCCTTC others(18): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0118 | 1 | 202 | 0.0050 | -25 | c.400 others(42): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPP1R12A_chr12_79768568_79940097 | 79801345 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 31 | 0.0323 | -25 | c.200 others(44): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 14/24 | chr12 | TogoVar | |||||||
PPP1R12B_chr1_202343699_202597702 | 202491208 | TCTGCCTC others(18): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0132 | 1 | 252 | 0.0040 | -25 | c.194 others(44): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150152119 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(99): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0043 others(98): Show |
102 | 258 | 0.3953 | -25 | c.306 others(42): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R2B_chr5_156845295_156857528 | 156857096 | GTTTTTTT others(18): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02451.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 11 | 33 | 0.3333 | -25 | c.*59 others(36): Show |
PPP1R2B | ENSG00000231989.5 | transcript | ENST00000522232.3 | protein_coding | 4569 | chr5 | TogoVar | |||||||
PPP1R37_chr19_45088179_45152285 | 45090563 | CCCAATGT others(18): Show |
C | upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 340 | 0.0029 | -25 | c.-27 others(36): Show |
PPP1R37 | ENSG00000104866.11 | transcript | ENST00000221462.9 | protein_coding | 2615 | chr19 | TogoVar | |||||||
PPP1R9B_chr17_50128737_50155677 | 50131534 | CAAAAAAA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02040.hp1 others(9): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004a0001c0004t0010 | a0001c0004t0001g0032 a0001c0004t0001g0130 a0001c0004t0001g0131 others(4): Show |
12 | 56 | 0.2143 | -25 | c.*37 others(36): Show |
PPP1R9B | ENSG00000108819.11 | transcript | ENST00000612501.2 | protein_coding | 2202 | chr17 | TogoVar | |||||||
PPP2R2B_chr5_146575742_146883757 | 146807776 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0134 | 1 | 12 | 0.0833 | -25 | c.70+ others(42): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 339712 | GGGGGGGG others(18): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009 | 1 | 24 | 0.0417 | -25 | c.135 others(42): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 10/12 | chrX | TogoVar | |||||||
PPP2R5A_chr1_212280410_212366853 | 212297096 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | NA18998.hp1 NA19003.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0187 |
3 | 301 | 0.0100 | -25 | c.181 others(44): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPP2R5A_chr1_212280410_212366853 | 212297114 | TTTTTTTT others(18): Show |
T | intron_variant | MODIFIER | HG02071.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0244 |
2 | 382 | 0.0052 | -25 | c.181 others(44): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
PPP2R5A_chr1_212280410_212366853 | 212354601 | TTAAGCCT others(18): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0328 | 1 | 382 | 0.0026 | -25 | c.928 others(42): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPP2R5D_chr6_42979570_43017342 | 42998032 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03710.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0187 |
3 | 304 | 0.0099 | -25 | c.105 others(42): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | chr6 | TogoVar | |||||||
PPP2R5D_chr6_42979570_43017342 | 42998035 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 286 | 0.0035 | -25 | c.105 others(42): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R5D_chr6_42979570_43017342 | 42998037 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01952.hp1 HG02004.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0047 others(5): Show |
8 | 238 | 0.0336 | -25 | c.105 others(42): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R5D_chr6_42979570_43017342 | 42998039 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0192 a0001c0001t0001g0197 |
3 | 290 | 0.0103 | -25 | c.105 others(42): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R5D_chr6_42979570_43017342 | 42998047 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 302 | 0.0033 | -25 | c.105 others(42): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R5E_chr14_63366364_63548377 | 63419611 | TCAGGAGC others(18): Show |
T | intron_variant | MODIFIER | HG02027.hp2 HG02040.hp1 HG02071.hp1 others(17): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0137 a0001c0001t0001g0160 a0001c0001t0001g0175 others(17): Show |
20 | 250 | 0.0800 | -25 | c.456 others(42): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 4/13 | chr14 | TogoVar | |||||||
PPP3CC_chr8_22436078_22546125 | 22515913 | CTTTATTT others(18): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 a0001c0001t0002g0310 |
2 | 109 | 0.0183 | -25 | c.770 others(42): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP3R2_chr9_101586604_101599969 | 101590403 | ATGGAATC others(18): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01168.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 16 | 446 | 0.0359 | -25 | c.*39 others(36): Show |
PPP3R2 | ENSG00000188386.8 | transcript | ENST00000374806.2 | protein_coding | 1200 | chr9 | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389361 | AAACACAC others(18): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 377 | 0.0027 | -25 | c.135 others(42): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP6R3_chr11_68455752_68620334 | 68580746 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0003g0021 others(2): Show |
5 | 75 | 0.0667 | -25 | c.154 others(44): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPWD1_chr5_65558296_65592549 | 65578742 | ATATACAC others(18): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0067 |
3 | 311 | 0.0096 | -25 | c.116 others(42): Show |
PPWD1 | ENSG00000113593.12 | transcript | ENST00000261308.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
PRAP1_chr10_133342373_133357683 | 133347501 | CAGCTGTG others(18): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0070 |
3 | 386 | 0.0078 | -25 | c.8+7 others(35): Show |
PRAP1 | ENSG00000165828.15 | transcript | ENST00000433452.6 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PRCC_chr1_156762535_156805815 | 156779116 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0157 |
2 | 348 | 0.0057 | -25 | c.469 others(42): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41844739 | CACAGAGT others(18): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01243.hp1 HG01884.hp1 others(30): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0004a0001c0001t0016a0001c0002t0002others(16): Show | a0001c0001t0004g0388 a0001c0001t0016g0152 a0001c0001t0016g0171 others(30): Show |
33 | 404 | 0.0817 | -25 | c.640 others(42): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41845170 | CACACAGC others(18): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0224 | 1 | 404 | 0.0025 | -25 | c.640 others(42): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41845197 | CACACAGC others(18): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0010 | a0001c0010t0012 | a0001c0010t0012g0392 | 1 | 404 | 0.0025 | -25 | c.640 others(42): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41845224 | CACACAGC others(18): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(55): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(14): Show | a0001c0001t0002g0199 a0001c0001t0004g0004 a0001c0001t0004g0069 others(54): Show |
58 | 403 | 0.1439 | -25 | c.640 others(42): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3240056 | AAGAGGAG others(18): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 |
a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0056 a0003c0011t0001g0057 |
2 | 60 | 0.0333 | -25 | c.388 others(42): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRELID3A_chr18_12402929_12437234 | 12405823 | GAAAGAAA others(18): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02965.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0044 a0001c0001t0002g0043 a0001c0001t0002g0045 others(1): Show |
4 | 391 | 0.0102 | -25 | c.-21 others(36): Show |
PRELID3A | ENSG00000141391.14 | transcript | ENST00000440960.6 | protein_coding | 2105 | chr18 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48719881 | GCTCAGAA others(18): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG02015.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0135 a0001c0006t0005g0137 a0001c0006t0005g0177 others(4): Show |
7 | 266 | 0.0263 | -25 | c.621 others(42): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 5/39 | chr20 | TogoVar | |||||||
PREX2_chr8_67947046_68242032 | 68137210 | GCAACTTT others(18): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG03098.hp1 |
a0001a0003 | a0001c0003a0001c0033a0003c0020 | a0001c0003t0010a0001c0033t0007a0003c0020t0002 | a0001c0003t0010g0079 a0001c0033t0007g0072 a0003c0020t0002g0128 |
3 | 188 | 0.0160 | -25 | c.398 others(44): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 32/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PRG3_chr11_57371769_57386150 | 57374426 | CAAAAAAA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(313): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(36): Show |
316 | 321 | 0.9844 | -25 | c.*23 others(36): Show |
PRG3 | ENSG00000156575.2 | transcript | ENST00000287143.2 | protein_coding | 2342 | chr11 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42483360 | AGACAGCG others(18): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0015a0001c0005t0002 | a0001c0001t0001g0152 a0001c0002t0015g0210 a0001c0005t0002g0148 |
3 | 298 | 0.0101 | -25 | c.-48 others(44): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93725186 | AGGCTCGG others(18): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG02965.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0001t0032a0001c0003t0014 | a0001c0001t0014g0341 a0001c0001t0032g0091 a0001c0003t0014g0292 |
3 | 396 | 0.0076 | -25 | c.360 others(42): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRKACA_chr19_14086688_14122762 | 14109958 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 a0001c0001t0002g0241 a0001c0001t0002g0242 |
4 | 323 | 0.0124 | -25 | c.47- others(40): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151841461 | AGTAGTGA others(18): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG03654.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088 a0001c0001t0002g0073 a0001c0001t0002g0081 |
3 | 250 | 0.0120 | -25 | c.114 others(44): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151842056 | GGATGGTA others(18): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02897.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0010 | a0001c0001t0002g0104 a0001c0001t0006g0023 a0001c0001t0010g0175 |
3 | 249 | 0.0120 | -25 | c.114 others(44): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151842506 | GGATGGTA others(18): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0207 | 1 | 250 | 0.0040 | -25 | c.114 others(44): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151874024 | GATGTATA others(18): Show |
G | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0001 | 1 | 187 | 0.0053 | -25 | c.114 others(42): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23866986 | CCCTTCCT others(18): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02258.hp2 HG03130.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0017a0001c0001t0019a0001c0001t0042others(8): Show | a0001c0001t0017g0071 a0001c0001t0019g0144 a0001c0001t0042g0001 others(8): Show |
11 | 139 | 0.0791 | -25 | c.205 others(44): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23875500 | TATATATG others(18): Show |
T | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0008 | a0001c0008t0080 | a0001c0008t0080g0059 | 1 | 146 | 0.0068 | -25 | c.205 others(44): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | chr16 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23875723 | TCACACAT others(18): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0010a0001c0002t0083a0001c0003t0048others(6): Show | a0001c0001t0010g0053 a0001c0002t0083g0068 a0001c0003t0048g0055 others(6): Show |
9 | 146 | 0.0616 | -25 | c.205 others(44): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |