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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDH11X_chrX_91774375_92628230 | 92132623 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03041.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0104a0001c0001t0006g0022a0001c0001t0006g0053others(2): Show | 5 | 154 | 0.0325 | -52 | c.303 others(73): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH15_chr10_53797771_54806231 | 54307040 | GTATATAT others(45): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp2 others(10): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0022a0001c0001t0001g0039a0001c0001t0002g0070others(10): Show | 13 | 102 | 0.1275 | -52 | c.876 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54307052 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 102 | 0.0098 | -52 | c.876 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54307040 | GTATATAT others(45): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG00741.hp2 others(9): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0036a0001c0001t0001g0062others(9): Show | 12 | 94 | 0.1277 | -52 | c.876 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54307052 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 94 | 0.0106 | -52 | c.876 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 721729 | TCTCTGTG others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(57): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0007a0001c0001t0001g0051a0001c0001t0001g0052others(57): Show | 60 | 366 | 0.1639 | -52 | c.-18 others(71): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 758686 | CCCCTCTC others(45): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 366 | 0.0027 | -52 | c.463 others(69): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 759269 | CCCCTCTC others(45): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0292 | 1 | 366 | 0.0027 | -52 | c.463 others(69): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 759534 | CCCCTCTC others(45): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0292 | 1 | 366 | 0.0027 | -52 | c.463 others(69): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCMTD2_chr20_64250748_64281226 | 64270179 | TGTGCACG others(45): Show |
T | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 332 | 0.0030 | -52 | c.706 others(69): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17303495 | AATATAAT others(45): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0121a0001c0001t0001g0131a0001c0001t0001g0164others(64): Show | 67 | 274 | 0.2445 | -52 | c.282 others(71): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK6_chr15_101298933_101494707 | 101311911 | CCCCTCAC others(45): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG06807.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0001 | a0001c0003t0002g0050a0001c0004t0001g0114 | 2 | 336 | 0.0060 | -52 | c.269 others(71): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318166 | TCCCACCC others(45): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0288 | 1 | 360 | 0.0028 | -52 | c.*36 others(63): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3193 | chr5 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177660080 | TTTCTTTC others(45): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00735.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(14): Show | a0001c0001t0003g0049a0001c0001t0003g0138a0001c0001t0007g0052others(21): Show | 24 | 170 | 0.1412 | -52 | c.264 others(71): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20386102 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001a0002a0007 | a0001c0001a0002c0004a0007c0009 | a0001c0001t0025a0002c0004t0125a0007c0009t0116 | a0001c0001t0025g0002a0001c0001t0025g0003a0002c0004t0125g0179others(1): Show | 4 | 198 | 0.0202 | -52 | c.960 others(71): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20386120 | TAAATATA others(45): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01516.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0083a0001c0001t0104 | a0001c0001t0031g0187a0001c0001t0083g0185a0001c0001t0104g0135 | 3 | 198 | 0.0152 | -52 | c.960 others(71): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE4D_chr5_58964038_59898726 | 58981450 | AAAGTTAA others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01071.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(60): Show | 63 | 74 | 0.8514 | -52 | c.155 others(71): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 11/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59574059 | AAAATATA others(45): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0004t0007 | a0001c0001t0003g0044a0001c0001t0005g0050a0001c0004t0007g0011 | 3 | 74 | 0.0405 | -52 | c.455 others(73): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59574093 | TAAATATA others(45): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA18945.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0038a0001c0001t0002g0053a0001c0001t0011g0017 | 3 | 74 | 0.0405 | -52 | c.455 others(73): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42670373 | CACACATT others(45): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0300a0001c0001t0002g0298a0001c0001t0005g0304others(11): Show | 14 | 324 | 0.0432 | -52 | c.70- others(69): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41402610 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0058 | 1 | 206 | 0.0049 | -52 | c.844 others(73): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5L_chr3_179789958_180041937 | 179901187 | TAAAACAT others(45): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp2 others(198): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0062others(198): Show | 201 | 220 | 0.9136 | -52 | c.94- others(67): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 2/14 | chr3 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230395718 | TCTCCTCA others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG04204.hp2 |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0063 | a0002c0003t0002g0237a0002c0003t0063g0235 | 2 | 288 | 0.0069 | -52 | c.331 others(71): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PGF_chr14_74936834_74960597 | 74945324 | AACTCGGG others(45): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 406 | 0.0025 | -52 | c.485 others(67): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 6/6 | chr14 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59785824 | GCTTCATT others(45): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0098a0001c0001t0003g0091a0001c0001t0006g0022others(1): Show | 4 | 250 | 0.0160 | -52 | c.117 others(73): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHLDB3_chr19_43470103_43509746 | 43509339 | ATACAAAA others(45): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0216 | 1 | 396 | 0.0025 | -52 | c.-48 others(63): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 4594 | chr19 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(45): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01496.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0005a0001c0003t0003others(1): Show | a0001c0001t0001g0143a0001c0001t0001g0168a0001c0001t0001g0186others(5): Show | 8 | 350 | 0.0229 | -52 | c.*51 others(63): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229059284 | TCCCACAC others(45): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 256 | 0.0039 | -52 | c.178 others(71): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
PIDD1_chr11_794184_810231 | 801741 | GAGCAGGA others(45): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02486.hp1 others(9): Show |
a0001a0003a0009 | a0001c0001a0003c0005a0003c0033others(1): Show | a0001c0001t0001a0003c0005t0002a0003c0033t0002others(1): Show | a0001c0001t0001g0040a0003c0005t0002g0011a0003c0005t0002g0013others(2): Show | 12 | 408 | 0.0294 | -52 | c.130 others(69): Show |
PIDD1 | ENSG00000177595.19 | transcript | ENST00000347755.10 | protein_coding | 7/15 | chr11 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10720391 | GTGTGTGT others(45): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01123.hp1 HG01192.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0007a0001c0028a0002c0001others(6): Show | a0001c0007t0001a0001c0028t0001a0002c0001t0001others(7): Show | a0001c0007t0001g0041a0001c0007t0001g0100a0001c0007t0001g0121others(12): Show | 15 | 158 | 0.0949 | -52 | c.503 others(71): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10720393 | GTGTGTGT others(45): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0008 | 1 | 158 | 0.0063 | -52 | c.503 others(71): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631741 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258a0001c0001t0001g0259a0001c0001t0001g0260others(4): Show | 7 | 320 | 0.0219 | -52 | c.529 others(69): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631743 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02896.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194a0001c0001t0001g0263a0001c0001t0001g0265 | 3 | 320 | 0.0094 | -52 | c.529 others(69): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGZ_chr3_196941356_196973833 | 196948985 | CCCTTCCT others(45): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0060 | 1 | 424 | 0.0024 | -52 | c.212 others(67): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18650702 | GTGTATAT others(45): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02895.hp1 HG02897.hp1 |
a0002a0005 | a0002c0009a0005c0015 | a0002c0009t0001a0005c0015t0001 | a0002c0009t0001g0068a0002c0009t0001g0071a0005c0015t0001g0069 | 3 | 176 | 0.0171 | -52 | c.*26 others(63): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2287 | chr12 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100314997 | AGGAAGGA others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02129.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0228a0001c0001t0001g0258 | 3 | 306 | 0.0098 | -52 | c.349 others(71): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKM_chr15_72194029_72236190 | 72209407 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142a0001c0001t0001g0143 | 2 | 370 | 0.0054 | -52 | c.565 others(67): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 5/10 | chr15 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402134 | GGCTCCAC others(45): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0006 | 1 | 216 | 0.0046 | -52 | c.173 others(69): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 402592 | CCCCGCTC others(45): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 216 | 0.0046 | -52 | c.173 others(69): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 402654 | CCCCCGAC others(45): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0033 | 1 | 216 | 0.0046 | -52 | c.173 others(69): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLA2G4A_chr1_186823949_186993981 | 186958111 | AATGACCC others(45): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 310 | 0.0032 | -52 | c.157 others(71): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLCE1_chr10_93988931_94337823 | 94141590 | GCTAAGGG others(45): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01123.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0004others(9): Show | a0001c0001t0059a0001c0001t0063a0001c0001t0088others(16): Show | a0001c0001t0059g0082a0001c0001t0063g0079a0001c0001t0088g0003others(19): Show | 22 | 118 | 0.1864 | -52 | c.149 others(71): Show |
PLCE1 | ENSG00000138193.17 | transcript | ENST00000371380.8 | protein_coding | 3/32 | chr10 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155566184 | CATATATA others(45): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0021a0001c0002t0001g0025a0001c0002t0003g0020others(3): Show | 6 | 264 | 0.0227 | -52 | c.866 others(69): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 7/22 | chr3 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298091 | GACATTAT others(45): Show |
G | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0055 | 1 | 176 | 0.0057 | -52 | c.734 others(68): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | chrX | TogoVar | ||||||
PLCZ1_chr12_18678180_18743012 | 18686475 | CATGTTTA others(45): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 326 | 0.0031 | -52 | c.159 others(71): Show |
PLCZ1 | ENSG00000139151.16 | transcript | ENST00000266505.12 | protein_coding | 13/14 | chr12 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764872 | AAAGAAAG others(45): Show |
A | intron_variant | MODIFIER | HG04228.hp1 NA18968.hp2 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0005 | a0002c0003t0003g0160a0002c0003t0005g0165 | 2 | 294 | 0.0068 | -52 | c.-31 others(71): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242165328 | TATTTATG others(45): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0132 | 1 | 188 | 0.0053 | -52 | c.736 others(71): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242194566 | ATATCTAT others(45): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG02027.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(8): Show | a0001c0001t0001g0096a0001c0001t0004g0056a0001c0001t0010g0084others(9): Show | 12 | 188 | 0.0638 | -52 | c.735 others(71): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 146090 | AGTCCTCC others(45): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0035 | a0035c0060 | a0035c0060t0020 | a0035c0060t0020g0188 | 1 | 210 | 0.0048 | -52 | c.190 others(71): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 165251 | CGGGGCGG others(45): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(16): Show |
a0002a0004a0026 | a0002c0003a0002c0005a0004c0006others(2): Show | a0002c0003t0066a0002c0003t0071a0002c0003t0124others(15): Show | a0002c0003t0066g0209a0002c0003t0071g0095a0002c0003t0124g0017others(16): Show | 19 | 210 | 0.0905 | -52 | c.347 others(71): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | chr5 | TogoVar |