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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLEKHA5_chr12_19124733_19381400 | 19308897 | G | GCGCGTGC others(37): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 316 | 0.0032 | 44 | c.203 others(63): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(37): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 256 | 0.0039 | 44 | c.-81 others(53): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | ||||||
PLEKHM1_chr17_45430900_45495721 | 45472164 | C | CGGTGAGA others(37): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0087others(2): Show | 7 | 325 | 0.0215 | 44 | c.923 others(61): Show |
PLEKHM1 | ENSG00000225190.12 | transcript | ENST00000430334.8 | protein_coding | 4/11 | chr17 | TogoVar | ||||||
PLGRKT_chr9_5352971_5442925 | 5424691 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 414 | 0.0024 | 44 | c.81+ others(59): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 3/5 | chr9 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748348 | A | AAGAGAAA others(37): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 384 | 0.0026 | 44 | c.212 others(63): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(37): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 384 | 0.0026 | 44 | c.212 others(63): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(37): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG01258.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0094a0001c0001t0001g0169others(15): Show | 20 | 384 | 0.0521 | 44 | c.212 others(63): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(37): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02080.hp2 HG04115.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0015a0001c0002t0001g0088a0001c0002t0001g0138others(7): Show | 11 | 384 | 0.0287 | 44 | c.212 others(63): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(37): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 384 | 0.0026 | 44 | c.212 others(63): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(37): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18995.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0201a0001c0008t0001g0349 | 2 | 384 | 0.0052 | 44 | c.212 others(63): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLIN4_chr19_4497192_4523486 | 4509316 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0027 | a0027c0154 | a0027c0154t0004 | a0027c0154t0004g0268 | 1 | 412 | 0.0024 | 44 | c.351 others(61): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/7 | chr19 | TogoVar | ||||||
PLK3_chr1_44795377_44810990 | 44795652 | T | TATATATA others(37): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 44 | c.-48 others(55): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4724 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56518715 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02818.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0004 | a0001c0001t0002g0126a0001c0003t0004g0170 | 2 | 336 | 0.0060 | 44 | c.633 others(61): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557052 | G | GAGAAAGA others(37): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02074.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0025a0001c0001t0001g0188a0001c0001t0001g0280others(3): Show | 6 | 336 | 0.0179 | 44 | c.140 others(63): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557056 | G | GAGAAAGA others(37): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01515.hp2 HG02083.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0128a0001c0001t0001g0276others(11): Show | 14 | 336 | 0.0417 | 44 | c.140 others(63): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349161 | T | TCTTTCTT others(37): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 436 | 0.0023 | 44 | c.*32 others(55): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2293 | chr19 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349165 | T | TCTTTCTT others(37): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0366 | 1 | 436 | 0.0023 | 44 | c.*31 others(55): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2289 | chr19 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349170 | C | CTTTCTTT others(37): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 436 | 0.0023 | 44 | c.*31 others(55): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2284 | chr19 | TogoVar | ||||||
PLXDC1_chr17_39058313_39156637 | 39129688 | A | AAAAGAAA others(37): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02615.hp2 NA19067.hp1 |
a0001a0004 | a0001c0001a0001c0002a0004c0014 | a0001c0001t0001a0001c0002t0002a0004c0014t0027 | a0001c0001t0001g0183a0001c0002t0002g0206a0004c0014t0027g0159 | 3 | 320 | 0.0094 | 44 | c.255 others(61): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
PLXDC1_chr17_39058313_39156637 | 39129711 | G | GGAAAGAA others(37): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG01071.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0001g0265a0001c0001t0004g0188a0001c0001t0011g0289others(7): Show | 10 | 320 | 0.0313 | 44 | c.255 others(61): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20044122 | T | TCCTTCCT others(37): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0075 | 1 | 180 | 0.0056 | 44 | c.325 others(61): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02647.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(3): Show | a0002c0002t0002g0172a0002c0002t0005g0083a0002c0002t0005g0086others(4): Show | 7 | 180 | 0.0389 | 44 | c.131 others(63): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXNA2_chr1_208017242_208249384 | 208209983 | A | AATTTTTT others(37): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0104 | a0002c0002t0104g0297 | 1 | 312 | 0.0032 | 44 | c.137 others(61): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 3/31 | chr1 | TogoVar | ||||||
PLXNA4_chr7_132118340_132581470 | 132327048 | G | GGGAGAGA others(37): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0084 | 1 | 88 | 0.0114 | 44 | c.137 others(65): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50307782 | G | GGGGAGGG others(37): Show |
upstream_gene_variant | MODIFIER | NA18990.hp2 | a0007 | a0007c0076 | a0007c0076t0001 | a0007c0076t0001g0258 | 1 | 302 | 0.0033 | 44 | c.-30 others(53): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 137 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594338 | T | TGGGGGGG others(37): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 330 | 0.0030 | 44 | c.-45 others(55): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4499 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594385 | G | GGTGGGGG others(37): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 44 | c.-45 others(55): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4546 | chr22 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAATAATA others(37): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0360 | 1 | 408 | 0.0025 | 44 | c.-95 others(53): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTG others(37): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 454 | 0.0022 | 44 | c.-20 others(55): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | ||||||
POC1B_chr12_89414718_89531047 | 89476759 | T | TAGATAGA others(37): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 370 | 0.0027 | 44 | c.453 others(61): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
POC1B_chr12_89414718_89531047 | 89476759 | T | TAGATAGA others(37): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 370 | 0.0027 | 44 | c.453 others(61): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(37): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0009 | a0009c0014 | a0009c0014t0003 | a0009c0014t0003g0033 | 1 | 440 | 0.0023 | 44 | c.-21 others(55): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24921892 | T | TTGTGTGT others(37): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 197 | 0.0051 | 44 | c.416 others(63): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02040.hp1 HG03704.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0174a0001c0001t0002g0175 | 6 | 340 | 0.0177 | 44 | c.438 others(59): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325105 | T | TGAGTGAG others(37): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0102 | 2 | 398 | 0.0050 | 44 | c.194 others(61): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325183 | T | TGAGAGAG others(37): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 398 | 0.0025 | 44 | c.194 others(61): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
POLN_chr4_2066918_2247121 | 2243915 | A | AACAGAGA others(37): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02965.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0098a0002c0001t0001g0162 | 2 | 194 | 0.0103 | 44 | c.-21 others(55): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 1795 | chr4 | TogoVar | ||||||
POLR2C_chr16_57457679_57477009 | 57475693 | T | TCTCTCTC others(37): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | 44 | c.*45 others(55): Show |
POLR2C | ENSG00000102978.13 | transcript | ENST00000219252.10 | protein_coding | 3685 | chr16 | TogoVar | ||||||
POLR3E_chr16_22292409_22340096 | 22303639 | C | CTTTTTTT others(37): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 358 | 0.0028 | 44 | c.36+ others(57): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
POR_chr7_75910155_75991855 | 75989077 | T | TGGAGGGG others(37): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01069.hp2 others(17): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0001a0001c0004t0001a0001c0005t0001others(2): Show | a0001c0002t0001g0064a0001c0002t0001g0068a0001c0002t0001g0072others(17): Show | 20 | 278 | 0.0719 | 44 | c.*25 others(55): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2223 | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75989104 | G | GGGTGGAG others(37): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0028 | 1 | 278 | 0.0036 | 44 | c.*26 others(55): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2250 | chr7 | TogoVar | ||||||
POU2F1_chr1_167215886_167432340 | 167429373 | T | TTATATAT others(37): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0115 | 1 | 292 | 0.0034 | 44 | c.*13 others(57): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2034 | chr1 | TogoVar | ||||||
PP2D1_chr3_19980346_20017264 | 20012891 | A | ATACACAT others(37): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02257.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0004a0004c0005t0004 | a0001c0001t0004g0159a0004c0005t0004g0007a0004c0005t0004g0158others(1): Show | 11 | 396 | 0.0278 | 44 | c.-82 others(53): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 628 | chr3 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105460858 | C | CATATATA others(37): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 366 | 0.0027 | 44 | c.158 others(61): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
PPARGC1A_chr4_23787021_23895047 | 23844742 | C | CATAATAT others(37): Show |
intron_variant | MODIFIER | NA19000.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0058 | a0001c0001t0046g0255a0001c0001t0058g0287 | 2 | 342 | 0.0059 | 44 | c.235 others(63): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
PPARGC1A_chr4_23787021_23895047 | 23844742 | C | CATAATAT others(37): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0244 | 1 | 342 | 0.0029 | 44 | c.235 others(63): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
PPARGC1A_chr4_23787021_23895047 | 23844786 | A | AATAATAT others(37): Show |
intron_variant | MODIFIER | HG02647.hp1 HG04199.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0064a0002c0002t0001 | a0001c0001t0064g0340a0002c0002t0001g0066 | 2 | 342 | 0.0059 | 44 | c.235 others(63): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75877006 | A | AAAAGAAA others(37): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(33): Show |
a0001a0007a0009 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0048a0001c0001t0001g0063a0001c0001t0001g0089others(32): Show | 36 | 270 | 0.1333 | 44 | c.934 others(59): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 10/16 | chr4 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0048a0001c0003t0003g0049 | 2 | 282 | 0.0071 | 44 | c.264 others(61): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATTATA others(37): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0037 | 1 | 282 | 0.0036 | 44 | c.264 others(61): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |