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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPM1L_chr3_160751231_161083902 | 160814550 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02897.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0153a0001c0001t0003g0131others(7): Show | 10 | 206 | 0.0485 | -32 | c.399 others(51): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPM1L_chr3_160751231_161083902 | 160843426 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 206 | 0.0049 | -32 | c.399 others(51): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP1R12A_chr12_79768568_79940097 | 79812658 | GTCTATTC others(25): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0094 | 1 | 312 | 0.0032 | -32 | c.124 others(51): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 9/24 | chr12 | TogoVar | ||||||
PPP1R12C_chr19_55085918_55122637 | 55096775 | GCCCCTTC others(25): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 390 | 0.0026 | -32 | c.952 others(47): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | ||||||
PPP1R12C_chr19_55085918_55122637 | 55097001 | CCCGCGCA others(25): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 390 | 0.0026 | -32 | c.952 others(47): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | ||||||
PPP1R12C_chr19_55085918_55122637 | 55110292 | AGTGGGTG others(25): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02486.hp2 HG02630.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0006others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0006t0001others(3): Show | a0001c0001t0001g0047a0001c0001t0001g0273a0001c0001t0001g0274others(7): Show | 11 | 390 | 0.0282 | -32 | c.571 others(49): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 3/21 | chr19 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150227684 | TGAAAAGA others(25): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0249 | 1 | 312 | 0.0032 | -32 | c.423 others(51): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R16A_chr8_144472982_144507121 | 144489286 | GGGGGGTT others(25): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 356 | 0.0028 | -32 | c.-91 others(49): Show |
PPP1R16A | ENSG00000160972.10 | transcript | ENST00000435887.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP1R1C_chr2_181980853_182122756 | 182076181 | CTTTTTTT others(25): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 344 | 0.0029 | -32 | c.241 others(51): Show |
PPP1R1C | ENSG00000150722.11 | transcript | ENST00000682840.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1R21_chr2_48435766_48520386 | 48469317 | ACACATAT others(25): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02258.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0070a0001c0001t0002g0073a0001c0001t0002g0074others(5): Show | 8 | 372 | 0.0215 | -32 | c.898 others(49): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1R21_chr2_48435766_48520386 | 48469320 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01099.hp2 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0022 | a0001c0001t0015g0362a0001c0001t0022g0360 | 2 | 372 | 0.0054 | -32 | c.898 others(49): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1R21_chr2_48435766_48520386 | 48469375 | TATAGCAT others(25): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01123.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0084a0001c0001t0001g0097a0001c0001t0001g0098others(14): Show | 17 | 372 | 0.0457 | -32 | c.898 others(49): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1R21_chr2_48435766_48520386 | 48469456 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0027 | a0001c0001t0013g0289a0001c0001t0027g0286 | 2 | 372 | 0.0054 | -32 | c.898 others(49): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1R2B_chr5_156845295_156857528 | 156848421 | TACACACA others(25): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02965.hp2 HG03130.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0018 | a0001c0001t0002g0000a0005c0007t0018g0000 | 3 | 430 | 0.0070 | -32 | c.-21 others(43): Show |
PPP1R2B | ENSG00000231989.5 | transcript | ENST00000522232.3 | protein_coding | 1873 | chr5 | TogoVar | ||||||
PPP1R37_chr19_45088179_45152285 | 45139533 | CCAGGGTT others(25): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0002a0001c0019 | a0001c0002t0007a0001c0019t0007 | a0001c0002t0007g0298a0001c0002t0007g0300a0001c0002t0007g0301others(2): Show | 5 | 342 | 0.0146 | -32 | c.301 others(47): Show |
PPP1R37 | ENSG00000104866.11 | transcript | ENST00000221462.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP2R2B_chr5_146575742_146883757 | 146812480 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00673.hp1 others(47): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0107a0001c0001t0001g0116a0001c0001t0001g0121others(47): Show | 50 | 170 | 0.2941 | -32 | c.70+ others(49): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6353821 | CCCAACAC others(25): Show |
C | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0282 | 1 | 298 | 0.0034 | -32 | c.626 others(49): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 5/8 | chr4 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6382667 | TCTCTCTC others(25): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0016a0001c0004t0002 | a0001c0001t0002g0129a0001c0001t0016g0247a0001c0004t0002g0126 | 3 | 298 | 0.0101 | -32 | c.71- others(47): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131916992 | GGTGGGTG others(25): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01109.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0206a0002c0002t0001g0229a0002c0002t0001g0230others(5): Show | 8 | 394 | 0.0203 | -32 | c.100 others(51): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131917309 | AATGACAC others(25): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0061 | a0001c0001t0052g0171a0001c0001t0061g0132 | 2 | 394 | 0.0051 | -32 | c.100 others(51): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131919249 | TGTAGGGA others(25): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0097 | 1 | 394 | 0.0025 | -32 | c.101 others(51): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131919628 | TTGTAGGG others(25): Show |
T | intron_variant | MODIFIER | NA18946.hp2 NA19091.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211a0002c0002t0001g0212 | 2 | 394 | 0.0051 | -32 | c.101 others(51): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131920122 | CGGGTGGA others(25): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 394 | 0.0025 | -32 | c.101 others(51): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R3B_chrX_328933_391907 | 347153 | CGGCCCTC others(25): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG02165.hp1 others(19): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0002c0003others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0018others(19): Show | 22 | 25 | 0.8800 | -32 | c.717 others(45): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 4/12 | chrX | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101782510 | TCTTTCTC others(25): Show |
T | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 138 | 0.0073 | -32 | c.94- others(47): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | chr14 | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101782567 | TCTCTCTC others(25): Show |
T | intron_variant | MODIFIER | HG02451.hp2 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0009a0002c0002t0008g0010 | 2 | 138 | 0.0145 | -32 | c.94- others(47): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PPP3CA_chr4_101018418_101352526 | 101124701 | GAAAGAAA others(25): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 192 | 0.0052 | -32 | c.260 others(51): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101124705 | GAAAGAAA others(25): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0116 | 1 | 192 | 0.0052 | -32 | c.260 others(51): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
PPP3R1_chr2_68173857_68257532 | 68198324 | CATATGTA others(25): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01099.hp2 others(93): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(10): Show | a0001c0001t0001g0085a0001c0001t0001g0094a0001c0001t0001g0100others(91): Show | 96 | 398 | 0.2412 | -32 | c.44- others(47): Show |
PPP3R1 | ENSG00000221823.11 | transcript | ENST00000234310.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
PPP4R3A_chr14_91452508_91515310 | 91507386 | ATAGTATA others(25): Show |
A | intron_variant | MODIFIER | NA19088.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0135 | 2 | 370 | 0.0054 | -32 | c.142 others(49): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar | ||||||
PPP4R3A_chr14_91452508_91515310 | 91507451 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG01943.hp1 HG02074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0001g0207others(2): Show | 5 | 370 | 0.0135 | -32 | c.142 others(49): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46389362 | AACACACA others(25): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG02572.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0209a0001c0001t0001g0212others(1): Show | 4 | 394 | 0.0102 | -32 | c.135 others(49): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP6C_chr9_125141573_125194803 | 125171466 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002a0001c0001t0006g0013a0001c0001t0006g0290others(4): Show | 10 | 394 | 0.0254 | -32 | c.76- others(45): Show |
PPP6C | ENSG00000119414.12 | transcript | ENST00000373547.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
PPP6C_chr9_125141573_125194803 | 125171470 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 394 | 0.0025 | -32 | c.76- others(45): Show |
PPP6C | ENSG00000119414.12 | transcript | ENST00000373547.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50344798 | CAGTCAGT others(25): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0009a0001c0002t0023others(2): Show | a0001c0001t0002g0082a0001c0002t0009g0086a0001c0002t0009g0087others(5): Show | 8 | 340 | 0.0235 | -32 | c.-14 others(51): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50344838 | TCCCCCCC others(25): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0125 | 1 | 340 | 0.0029 | -32 | c.-14 others(51): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50344853 | GCCCCCTC others(25): Show |
G | intron_variant | MODIFIER | NA18954.hp2 NA19056.hp2 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0035a0002c0004t0005 | a0001c0003t0035g0072a0002c0004t0005g0205 | 2 | 340 | 0.0059 | -32 | c.-14 others(51): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PRAMEF13_chr1_13191188_13206409 | 13203334 | CAAGCAAG others(25): Show |
C | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0003 | 1 | 53 | 0.0189 | -32 | c.-20 others(43): Show |
PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1926 | chr1 | TogoVar | ||||||
PRAMEF14_chr1_13336892_13352134 | 13349227 | AGAAAGAA others(25): Show |
A | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 256 | 0.0039 | -32 | c.-22 others(43): Show |
PRAMEF14 | ENSG00000204481.8 | transcript | ENST00000334600.7 | protein_coding | 2094 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789401 | CTTCCTTC others(25): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00673.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0012others(3): Show | a0001c0001t0001g0001a0002c0002t0002g0002a0002c0002t0012g0002others(3): Show | 13 | 382 | 0.0340 | -32 | c.-20 others(43): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 1995 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789405 | CTTCCCTC others(25): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0001 | 1 | 382 | 0.0026 | -32 | c.-20 others(43): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 1991 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789431 | TCTTTCTT others(25): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -32 | c.-20 others(43): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 1965 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789435 | TCTTTCTT others(25): Show |
T | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -32 | c.-20 others(43): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 1961 | chr1 | TogoVar | ||||||
PRAMEF7_chr1_12911610_12925751 | 12915475 | CTCTCTCT others(25): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | -32 | c.-12 others(43): Show |
PRAMEF7 | ENSG00000204510.6 | transcript | ENST00000697200.1 | protein_coding | 1134 | chr1 | TogoVar | ||||||
PRAMEF7_chr1_12911610_12925751 | 12915479 | CTCTTTCT others(25): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0012 | 1 | 254 | 0.0039 | -32 | c.-12 others(43): Show |
PRAMEF7 | ENSG00000204510.6 | transcript | ENST00000697200.1 | protein_coding | 1130 | chr1 | TogoVar | ||||||
PRAMEF8_chr1_13276304_13290137 | 13283905 | GGGTGAAA others(25): Show |
G | frameshift_variant | HIGH | NA19078.hp2 | a0019 | a0019c0013 | a0019c0013t0001 | a0019c0013t0001g0031 | 1 | 332 | 0.0030 | -32 | c.155 others(39): Show |
p.Leu others(4): Show |
PRAMEF8 | ENSG00000182330.11 | transcript | ENST00000357367.7 | protein_coding | 2/4 | 252/1558 | 155/1425 | 52/474 | chr1 | TogoVar | ||
PRAP1_chr10_133342373_133357683 | 133350890 | ATGGCTGG others(25): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(383): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(67): Show | 386 | 388 | 0.9949 | -32 | c.76- others(45): Show |
PRAP1 | ENSG00000165828.15 | transcript | ENST00000433452.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRDM15_chr21_41793225_41884344 | 41806452 | CCATCACC others(25): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG03041.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0193a0001c0002t0002g0289a0001c0002t0002g0293 | 3 | 406 | 0.0074 | -32 | c.265 others(51): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3087168 | TCAGCCCC others(25): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0067 | 1 | 210 | 0.0048 | -32 | c.37+ others(49): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3087211 | CGAGACCA others(25): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0129 | 1 | 210 | 0.0048 | -32 | c.37+ others(49): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |