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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP2R5E_chr14_63366364_63548377 | 63400699 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0021others(3): Show | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0018others(33): Show | 36 | 252 | 0.1429 | 9 | c.550 others(26): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 5/13 | chr14 | TogoVar | ||||||
PPP2R5E_chr14_63366364_63548377 | 63440783 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01433.hp2 HG02056.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0004g0051a0001c0001t0005g0109a0001c0001t0005g0110others(14): Show | 17 | 252 | 0.0675 | 9 | c.354 others(28): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 3/13 | chr14 | TogoVar | ||||||
PPP2R5E_chr14_63366364_63548377 | 63440948 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01243.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0013a0001c0001t0002g0053a0001c0001t0002g0084others(23): Show | 26 | 252 | 0.1032 | 9 | c.354 others(28): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 3/13 | chr14 | TogoVar | ||||||
PPP2R5E_chr14_63366364_63548377 | 63467222 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02145.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0017a0001c0001t0051others(3): Show | a0001c0001t0011g0061a0001c0001t0017g0062a0001c0001t0051g0066others(3): Show | 6 | 252 | 0.0238 | 9 | c.158 others(28): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 2/13 | chr14 | TogoVar | ||||||
PPP2R5E_chr14_63366364_63548377 | 63495417 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(3): Show | a0001c0001t0003g0204a0001c0001t0003g0205a0001c0001t0006g0227others(5): Show | 8 | 252 | 0.0318 | 9 | c.158 others(28): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 2/13 | chr14 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101324123 | A | AAAGGAAG others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02818.hp1 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019 | a0001c0002t0001g0115a0001c0002t0019g0096a0001c0002t0019g0097 | 3 | 192 | 0.0156 | 9 | c.58+ others(26): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101346877 | A | ACGCCGCC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02129.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0035 | a0001c0001t0034g0010a0001c0001t0035g0011 | 2 | 192 | 0.0104 | 9 | c.-90 others(16): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 1/14 | 82 | chr4 | TogoVar | |||||
PPP3CB_chr10_73431433_73501024 | 73489408 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02965.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0071 | 3 | 202 | 0.0149 | 9 | c.85+ others(24): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
PPP3CB_chr10_73431433_73501024 | 73493275 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0003others(8): Show | 11 | 202 | 0.0545 | 9 | c.85+ others(24): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
PPP3CC_chr8_22436078_22546125 | 22481345 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0038a0001c0001t0003g0052a0001c0001t0009g0055others(2): Show | 5 | 326 | 0.0153 | 9 | c.372 others(26): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP3R1_chr2_68173857_68257532 | 68198062 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0015a0001c0002t0003others(1): Show | a0001c0001t0006g0047a0001c0001t0006g0054a0001c0001t0006g0056others(4): Show | 7 | 398 | 0.0176 | 9 | c.44- others(24): Show |
PPP3R1 | ENSG00000221823.11 | transcript | ENST00000234310.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
PPP3R1_chr2_68173857_68257532 | 68211233 | T | TAAAAATA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0015a0001c0001t0027others(1): Show | a0001c0001t0011g0018a0001c0001t0011g0019a0001c0001t0011g0021others(6): Show | 9 | 398 | 0.0226 | 9 | c.43+ others(24): Show |
PPP3R1 | ENSG00000221823.11 | transcript | ENST00000234310.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
PPP4R1_chr18_9541794_9619559 | 9561218 | C | CTAATAAT others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 NA19043.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0082a0001c0001t0001g0182 | 3 | 388 | 0.0077 | 9 | c.184 others(26): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 13/19 | chr18 | TogoVar | ||||||
PPP4R2_chr3_72991811_73074198 | 73002629 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01517.hp1 HG01928.hp2 others(12): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(5): Show | a0001c0001t0004g0132a0001c0001t0004g0168a0001c0001t0004g0169others(12): Show | 15 | 360 | 0.0417 | 9 | c.116 others(26): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP4R2_chr3_72991811_73074198 | 73005833 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00597.hp1 others(89): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0003a0001c0001t0009a0001c0001t0018others(27): Show | a0001c0001t0003g0107a0001c0001t0003g0108a0001c0001t0003g0115others(89): Show | 92 | 360 | 0.2556 | 9 | c.116 others(26): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP5C_chr19_46342087_46395975 | 46395633 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00621.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0149others(29): Show | 34 | 394 | 0.0863 | 9 | c.*52 others(20): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 4659 | chr19 | TogoVar | ||||||
PPP6C_chr9_125141573_125194803 | 125188793 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01346.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0002g0267a0001c0001t0002g0268a0001c0001t0002g0269others(18): Show | 21 | 394 | 0.0533 | 9 | c.75+ others(22): Show |
PPP6C | ENSG00000119414.12 | transcript | ENST00000373547.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50340600 | G | GGTGAGTG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00621.hp2 others(50): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(12): Show | a0001c0001t0001g0074a0001c0001t0001g0076a0001c0001t0001g0077others(50): Show | 53 | 340 | 0.1559 | 9 | c.-30 others(20): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2726 | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50340600 | G | GGTGTGTG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(121): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0019others(35): Show | a0001c0001t0001g0226a0001c0001t0001g0228a0001c0001t0001g0231others(121): Show | 124 | 340 | 0.3647 | 9 | c.-30 others(20): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2726 | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50375832 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02055.hp2 HG02257.hp2 others(9): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0003c0006others(3): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0037others(7): Show | a0001c0001t0001g0244a0001c0001t0014g0049a0001c0001t0037g0062others(9): Show | 12 | 340 | 0.0353 | 9 | c.-17 others(26): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50413670 | A | ACCCCCTC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(182): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(39): Show | a0001c0001t0001g0074a0001c0001t0001g0076a0001c0001t0001g0077others(182): Show | 185 | 340 | 0.5441 | 9 | c.415 others(24): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68477741 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01358.hp2 NA18944.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0006a0001c0001t0002g0011a0001c0001t0002g0132others(6): Show | 9 | 252 | 0.0357 | 9 | c.-15 others(30): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68478647 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01175.hp1 others(21): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0028a0001c0001t0001g0029others(21): Show | 24 | 252 | 0.0952 | 9 | c.-15 others(30): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68497548 | A | ATTTACCA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0029 | a0001c0001t0010g0248a0001c0001t0010g0249a0001c0001t0010g0250others(3): Show | 6 | 252 | 0.0238 | 9 | c.-15 others(30): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68506414 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG01358.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0019 | a0001c0001t0002g0185a0001c0001t0002g0194a0001c0001t0002g0202others(5): Show | 8 | 252 | 0.0318 | 9 | c.-15 others(30): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68542393 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01123.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0157a0001c0001t0004g0161a0001c0001t0004g0164others(7): Show | 10 | 252 | 0.0397 | 9 | c.228 others(26): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68566237 | G | GGCTGCTG others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00639.hp2 others(80): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0005others(80): Show | 83 | 252 | 0.3294 | 9 | c.976 others(24): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPWD1_chr5_65558296_65592549 | 65573516 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01109.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0002t0001g0041others(12): Show | 16 | 384 | 0.0417 | 9 | c.969 others(26): Show |
PPWD1 | ENSG00000113593.12 | transcript | ENST00000261308.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PQBP1_chrX_48892930_48908143 | 48907273 | T | TTAATGAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 307 | 0.0033 | 9 | c.*41 others(20): Show |
PQBP1 | ENSG00000102103.18 | transcript | ENST00000447146.7 | protein_coding | 4131 | chrX | TogoVar | ||||||
PRAG1_chr8_8312736_8391439 | 8345046 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02056.hp1 HG03490.hp1 |
a0004a0006a0044 | a0004c0004a0006c0006a0044c0050 | a0004c0004t0001a0006c0006t0001a0044c0050t0001 | a0004c0004t0001g0176a0006c0006t0001g0298a0044c0050t0001g0311 | 3 | 336 | 0.0089 | 9 | c.216 others(28): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
PRAG1_chr8_8312736_8391439 | 8347776 | A | AAATATTT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02572.hp2 others(6): Show |
a0003a0004a0005others(4): Show | a0003c0003a0004c0021a0005c0005others(5): Show | a0003c0003t0002a0004c0021t0003a0005c0005t0004others(6): Show | a0003c0003t0002g0099a0004c0021t0003g0030a0005c0005t0004g0272others(6): Show | 9 | 336 | 0.0268 | 9 | c.216 others(28): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
PRAG1_chr8_8312736_8391439 | 8388333 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02622.hp2 others(3): Show |
a0004a0005a0008others(2): Show | a0004c0007a0005c0005a0005c0017others(3): Show | a0004c0007t0001a0005c0005t0001a0005c0017t0001others(3): Show | a0004c0007t0001g0316a0005c0005t0001g0322a0005c0017t0001g0321others(3): Show | 6 | 336 | 0.0179 | 9 | c.-21 others(20): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 1895 | chr8 | TogoVar | ||||||
PRAMEF13_chr1_13191188_13206409 | 13203403 | A | AGGAAGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG03239.hp2 NA19240.hp1 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0001a0004c0003t0001g0010 | 3 | 53 | 0.0566 | 9 | c.-20 others(20): Show |
PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1995 | chr1 | TogoVar | ||||||
PRAMEF17_chr1_13384632_13397629 | 13396338 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG02083.hp1 HG02451.hp2 others(5): Show |
a0002a0005a0015 | a0002c0003a0005c0006a0015c0018 | a0002c0003t0001a0005c0006t0001a0015c0018t0001 | a0002c0003t0001g0004a0005c0006t0001g0004a0015c0018t0001g0004 | 8 | 430 | 0.0186 | 9 | c.*38 others(20): Show |
PRAMEF17 | ENSG00000204479.4 | transcript | ENST00000376098.4 | protein_coding | 3710 | chr1 | TogoVar | ||||||
PRAMEF5_chr1_13249198_13268435 | 13255776 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01069.hp2 HG01099.hp2 others(6): Show |
a0002a0008a0014 | a0002c0002a0008c0007a0014c0023 | a0002c0002t0002a0008c0007t0009a0014c0023t0002 | a0002c0002t0002g0008a0002c0002t0002g0059a0002c0002t0002g0060others(4): Show | 9 | 142 | 0.0634 | 9 | c.-23 others(26): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRAME_chr22_22542701_22564265 | 22543746 | A | ATTCTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG02132.hp1 HG03831.hp1 others(7): Show |
a0001a0003a0012 | a0001c0001a0001c0010a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0008others(2): Show | a0001c0001t0001g0075a0001c0001t0001g0166a0001c0001t0002g0011others(7): Show | 10 | 399 | 0.0251 | 9 | c.*43 others(20): Show |
PRAME | ENSG00000185686.18 | transcript | ENST00000405655.8 | protein_coding | 3954 | chr22 | TogoVar | ||||||
PRAME_chr22_22542701_22564265 | 22545775 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(52): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0023a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(35): Show | 55 | 399 | 0.1378 | 9 | c.*22 others(20): Show |
PRAME | ENSG00000185686.18 | transcript | ENST00000405655.8 | protein_coding | 1925 | chr22 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156779129 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01952.hp1 HG01975.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0129a0002c0002t0001g0130a0002c0002t0001g0132others(6): Show | 9 | 350 | 0.0257 | 9 | c.469 others(26): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156787650 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0031others(6): Show | 9 | 350 | 0.0257 | 9 | c.108 others(26): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM10_chr11_129894711_130007835 | 129900344 | A | AAAGAAGA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0062a0002c0028a0003c0024others(1): Show | a0001c0062t0027a0002c0028t0013a0003c0024t0031others(1): Show | a0001c0062t0027g0029a0002c0028t0013g0032a0002c0028t0013g0033others(2): Show | 5 | 326 | 0.0153 | 9 | c.*19 others(20): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 21/21 | 1968 | chr11 | TogoVar | |||||
PRDM10_chr11_129894711_130007835 | 129903300 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0009others(17): Show | a0001c0003t0001a0001c0003t0007a0001c0003t0011others(24): Show | a0001c0003t0001g0002a0001c0003t0001g0128a0001c0003t0001g0183others(73): Show | 77 | 326 | 0.2362 | 9 | c.326 others(26): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 20/20 | chr11 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41806141 | C | CTACCACC others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0009a0001c0002t0002others(6): Show | a0001c0001t0002g0141a0001c0001t0009g0106a0001c0002t0002g0047others(36): Show | 39 | 406 | 0.0961 | 9 | c.265 others(28): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3109083 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0007a0001c0001t0012a0001c0001t0016others(5): Show | a0001c0001t0007g0054a0001c0001t0012g0129a0001c0001t0016g0035others(6): Show | 9 | 210 | 0.0429 | 9 | c.37+ others(26): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3386142 | T | TCGGGGTG others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(72): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0006others(13): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(40): Show | a0001c0002t0001g0014a0001c0002t0001g0019a0001c0002t0001g0058others(72): Show | 75 | 210 | 0.3571 | 9 | c.573 others(24): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM2_chr1_13695188_13830079 | 13821163 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00639.hp1 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0128a0001c0001t0001g0144a0001c0001t0001g0150others(47): Show | 50 | 324 | 0.1543 | 9 | c.*24 others(26): Show |
PRDM2 | ENSG00000116731.23 | transcript | ENST00000311066.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM5_chr4_120686915_120927726 | 120757885 | C | CCTTCTCC others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01109.hp1 others(75): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0095a0001c0001t0001g0107a0001c0001t0001g0109others(75): Show | 78 | 298 | 0.2617 | 9 | c.153 others(28): Show |
PRDM5 | ENSG00000138738.11 | transcript | ENST00000264808.8 | protein_coding | 13/15 | chr4 | TogoVar | ||||||
PRDM5_chr4_120686915_120927726 | 120904189 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(54): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0127a0001c0001t0001g0137others(54): Show | 57 | 298 | 0.1913 | 9 | c.177 others(26): Show |
PRDM5 | ENSG00000138738.11 | transcript | ENST00000264808.8 | protein_coding | 2/15 | chr4 | TogoVar | ||||||
PRDM5_chr4_120686915_120927726 | 120923880 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02523.hp1 HG02895.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(7): Show | 10 | 298 | 0.0336 | 9 | c.-12 others(20): Show |
PRDM5 | ENSG00000138738.11 | transcript | ENST00000264808.8 | protein_coding | 1155 | chr4 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123090276 | A | ACCTCCGC others(2): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(71): Show |
a0002a0004a0005others(1): Show | a0002c0002a0002c0006a0002c0020others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(29): Show | a0002c0002t0001g0220a0002c0002t0001g0232a0002c0002t0001g0252others(68): Show | 74 | 312 | 0.2372 | 9 | c.277 others(16): Show |
p.Ala others(11): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 2/8 | 580/9147 | 286/1788 | 96/595 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
PRDM7_chr16_90051566_90082331 | 90074283 | G | GTCATCAT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02040.hp2 HG02735.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0023a0003c0003t0002g0135 | 4 | 392 | 0.0102 | 9 | c.301 others(24): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 4/10 | chr16 | TogoVar |