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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHAC1_chr5_140921299_141017347 | 140924895 | AAAAAAAA others(24): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0014 | a0014c0010 | a0014c0010t0026 | a0014c0010t0026g0001 | 1 | 280 | 0.0036 | -31 | c.-19 others(42): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1403 | chr5 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117232443 | GCCTTCCT others(24): Show |
G | upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 460 | 0.0022 | -31 | c.-58 others(40): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 371 | chr11 | TogoVar | ||||||
PCYOX1_chr2_70253137_70286185 | 70279676 | TTGGGAGG others(24): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0001 | 1 | 424 | 0.0024 | -31 | c.*22 others(42): Show |
PCYOX1 | ENSG00000116005.12 | transcript | ENST00000433351.7 | protein_coding | 6/6 | 2285 | chr2 | TogoVar | |||||
PCYT1B_chrX_24553087_24652347 | 24593445 | CTTTTCTT others(24): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0160 | 1 | 260 | 0.0039 | -31 | c.335 others(48): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3/7 | chrX | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 271928 | TCCTCCGT others(24): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01069.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0021a0001c0001t0001g0022others(1): Show | 5 | 360 | 0.0139 | -31 | c.101 others(46): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDCL_chr9_122813097_122833588 | 122828107 | ACCAAACT others(24): Show |
A | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 422 | 0.0024 | -31 | c.-6+ others(44): Show |
PDCL | ENSG00000136940.14 | transcript | ENST00000259467.9 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20394114 | GGAAGGGC others(24): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0008 | a0008c0008 | a0008c0008t0073 | a0008c0008t0073g0018 | 1 | 198 | 0.0051 | -31 | c.960 others(50): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149908667 | TTACTTTT others(24): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02148.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0008 | a0001c0001t0002g0020a0001c0006t0008g0031a0001c0006t0008g0063others(1): Show | 4 | 328 | 0.0122 | -31 | c.999 others(48): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 6/21 | chr5 | TogoVar | ||||||
PDE6C_chr10_93607537_93671010 | 93654779 | TTTCTTTC others(24): Show |
T | intron_variant | MODIFIER | NA18960.hp1 NA18967.hp2 NA18972.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0025a0001c0005t0001g0016a0002c0002t0001g0270others(2): Show | 5 | 384 | 0.0130 | -31 | c.193 others(48): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDGFB_chr22_39218359_39249982 | 39247878 | AAAAAAAA others(24): Show |
A | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 386 | 0.0026 | -31 | c.-39 others(42): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2897 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247880 | AAAAAAAA others(24): Show |
A | upstream_gene_variant | MODIFIER | HG02027.hp1 NA19055.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0228a0001c0001t0002g0230 | 3 | 386 | 0.0078 | -31 | c.-39 others(42): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2899 | chr22 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104118753 | GTATATAT others(24): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01256.hp2 HG02040.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0002g0115a0001c0001t0002g0119a0001c0001t0002g0132others(13): Show | 16 | 200 | 0.0800 | -31 | c.124 others(50): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDP2_chr16_66875515_66896101 | 66893519 | ATATATAT others(24): Show |
A | downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0001 | 1 | 356 | 0.0028 | -31 | c.*76 others(42): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2419 | chr16 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(24): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(98): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(98): Show | 101 | 334 | 0.3024 | -31 | c.-19 others(50): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(24): Show |
C | intron_variant | MODIFIER | HG02572.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267a0001c0001t0001g0289 | 2 | 322 | 0.0062 | -31 | c.872 others(50): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41458994 | TGAGGAAT others(24): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(113): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0013others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(46): Show | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0042others(113): Show | 116 | 206 | 0.5631 | -31 | c.844 others(50): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41540872 | TGTTGTTG others(24): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(66): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0010others(27): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(30): Show | a0001c0001t0001g0016a0001c0001t0004g0006a0001c0004t0001g0011others(66): Show | 69 | 206 | 0.3350 | -31 | c.120 others(52): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEMT_chr17_17500563_17596708 | 17586249 | AAAGAAAG others(24): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0012 | 1 | 348 | 0.0029 | -31 | c.96+ others(46): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976992 | ACTCCCCC others(24): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19081.hp1 |
a0001a0004 | a0001c0015a0004c0004 | a0001c0015t0002a0004c0004t0002 | a0001c0015t0002g0043a0004c0004t0002g0194 | 2 | 408 | 0.0049 | -31 | c.215 others(48): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977254 | GCCAACCC others(24): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02622.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017a0001c0001t0003g0028 | 5 | 408 | 0.0123 | -31 | c.215 others(48): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 978210 | TGCCTGCC others(24): Show |
T | intron_variant | MODIFIER | NA18975.hp2 NA18998.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 3 | 408 | 0.0074 | -31 | c.214 others(48): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577554 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 258 | 0.0039 | -31 | c.170 others(50): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PF4V1_chr4_73848296_73859483 | 73855077 | ATATATAT others(24): Show |
A | downstream_gene_variant | MODIFIER | NA18945.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 448 | 0.0045 | -31 | c.*95 others(40): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 595 | chr4 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855079 | ATATATAT others(24): Show |
A | downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -31 | c.*95 others(40): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 597 | chr4 | TogoVar | ||||||
PF4_chr4_73975811_73987027 | 73982205 | AAAAAGAA others(24): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 366 | 0.0027 | -31 | c.-28 others(40): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 179 | chr4 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3139486 | TTCCCTTC others(24): Show |
T | downstream_gene_variant | MODIFIER | HG02970.hp2 HG03486.hp1 |
a0001 | a0001c0011a0001c0059 | a0001c0011t0004a0001c0059t0004 | a0001c0011t0004g0196a0001c0059t0004g0240 | 2 | 402 | 0.0050 | -31 | c.*29 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2685 | chr10 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132718452 | GGTCCTGG others(24): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02109.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062a0001c0001t0002g0091a0001c0001t0002g0113 | 3 | 394 | 0.0076 | -31 | c.719 others(46): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PGLYRP2_chr19_15463645_15484501 | 15467839 | TTCCTTCC others(24): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(34): Show |
a0003a0009a0012others(1): Show | a0003c0003a0009c0010a0012c0022others(1): Show | a0003c0003t0001a0009c0010t0001a0012c0022t0001others(1): Show | a0003c0003t0001g0007a0003c0003t0001g0016a0003c0003t0001g0017others(30): Show | 37 | 382 | 0.0969 | -31 | c.*79 others(40): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 805 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15469492 | GAATAGAC others(24): Show |
G | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 382 | 0.0026 | -31 | c.164 others(48): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635170 | CTTTCTTT others(24): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 | 1 | 250 | 0.0040 | -31 | c.118 others(50): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59674562 | TTCCCCGC others(24): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0037a0001c0001t0001g0201others(14): Show | 17 | 250 | 0.0680 | -31 | c.119 others(50): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF23_chr17_7230038_7244457 | 7234362 | AGGACTGA others(24): Show |
A | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0005 | a0005c0010 | a0005c0010t0004 | a0005c0010t0004g0041 | 1 | 394 | 0.0025 | -31 | c.*12 others(42): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 675 | chr17 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49228266 | TTCCTTCC others(24): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0052a0001c0001t0002g0133others(2): Show | 8 | 420 | 0.0191 | -31 | c.-67 others(48): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678910 | TGTGTGTG others(24): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0007a0001c0001t0002g0009a0001c0001t0002g0010others(54): Show | 60 | 350 | 0.1714 | -31 | c.*51 others(42): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2477 | chr10 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46803044 | CAAAAAAA others(24): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG01257.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0019a0001c0001t0080others(31): Show | a0001c0001t0013g0012a0001c0001t0019g0282a0001c0001t0019g0287others(32): Show | 35 | 322 | 0.1087 | -31 | c.*93 others(42): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 173 | chr18 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4034258 | GGCCCTGC others(24): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG01516.hp2 HG01517.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0268a0001c0003t0002g0269a0001c0003t0002g0270others(2): Show | 5 | 334 | 0.0150 | -31 | c.114 others(48): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72912878 | GTGGTATG others(24): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 346 | 0.0029 | -31 | c.164 others(50): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72923350 | CTAAGAGA others(24): Show |
C | intron_variant | MODIFIER | NA18952.hp2 NA18969.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0179others(1): Show | 4 | 346 | 0.0116 | -31 | c.173 others(50): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIEZO2_chr18_10665247_11154569 | 10795320 | TATTTTAT others(24): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01517.hp2 HG01943.hp1 others(6): Show |
a0001a0002a0014others(2): Show | a0001c0006a0001c0039a0001c0047others(5): Show | a0001c0006t0001a0001c0039t0001a0001c0047t0002others(5): Show | a0001c0006t0001g0138a0001c0039t0001g0004a0001c0047t0002g0144others(6): Show | 9 | 158 | 0.0570 | -31 | c.152 others(48): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 12/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10944488 | CATATATA others(24): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001a0002a0017others(2): Show | a0001c0059a0002c0023a0017c0016others(2): Show | a0001c0059t0003a0002c0023t0002a0017c0016t0003others(2): Show | a0001c0059t0003g0110a0002c0023t0002g0103a0017c0016t0003g0015others(2): Show | 5 | 158 | 0.0317 | -31 | c.287 others(50): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 3/55 | chr18 | TogoVar | ||||||
PIGC_chr1_172436457_172449069 | 172447643 | AAGCAAGA others(24): Show |
A | upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 388 | 0.0026 | -31 | c.-38 others(42): Show |
PIGC | ENSG00000135845.10 | transcript | ENST00000344529.5 | protein_coding | 3575 | chr1 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34558762 | GCCCCGGA others(24): Show |
G | downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 320 | 0.0031 | -31 | c.*20 others(42): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 1779 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631773 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 320 | 0.0031 | -31 | c.529 others(48): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631786 | TTTTTTTT others(24): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 320 | 0.0031 | -31 | c.529 others(48): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGX_chr3_196707377_196741007 | 196732235 | TATATATA others(24): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01934.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015a0001c0001t0024others(1): Show | a0001c0001t0013g0217a0001c0001t0015g0169a0001c0001t0024g0047others(1): Show | 5 | 416 | 0.0120 | -31 | c.633 others(48): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
PIGX_chr3_196707377_196741007 | 196732236 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0216 | 1 | 416 | 0.0024 | -31 | c.633 others(48): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIK3CB_chr3_138647698_138839928 | 138693936 | AATATATA others(24): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03041.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0005a0001c0001t0003g0006others(1): Show | 4 | 206 | 0.0194 | -31 | c.189 others(48): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 14/23 | chr3 | TogoVar | ||||||
PIK3CB_chr3_138647698_138839928 | 138705159 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 206 | 0.0049 | -31 | c.153 others(48): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 11/23 | chr3 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68262444 | TGTAGAAT others(24): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0139 | a0001c0001t0139g0048 | 1 | 308 | 0.0033 | -31 | c.335 others(50): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
PIK3R2_chr19_18148163_18175532 | 18165127 | TGGGAGGC others(24): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0006 | a0003c0006t0008 | a0003c0006t0008g0153 | 1 | 334 | 0.0030 | -31 | c.141 others(50): Show |
PIK3R2 | ENSG00000105647.19 | transcript | ENST00000222254.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |