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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIM1_chr6_37165152_37180428 | 37179414 | A | ATATATAT others(39): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 46 | c.*53 others(57): Show |
PIM1 | ENSG00000137193.14 | transcript | ENST00000373509.6 | protein_coding | 3987 | chr6 | TogoVar | ||||||
PIPOX_chr17_29038141_29062216 | 29039609 | C | CATATATA others(39): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0029 | 1 | 396 | 0.0025 | 46 | c.-36 others(57): Show |
PIPOX | ENSG00000179761.12 | transcript | ENST00000323372.9 | protein_coding | 3531 | chr17 | TogoVar | ||||||
PIR_chrX_15379799_15498333 | 15433650 | A | AGAGGAAG others(39): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(84): Show | 87 | 272 | 0.3199 | 46 | c.481 others(63): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 5/9 | chrX | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67447829 | C | CCTGGGAT others(39): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0031 | 1 | 218 | 0.0046 | 46 | c.48+ others(63): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNM3_chr17_6446263_6561555 | 6505195 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0189 | 1 | 218 | 0.0046 | 46 | c.227 others(63): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 3/19 | chr17 | TogoVar | ||||||
PIWIL2_chr8_22270316_22362568 | 22290974 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006a0001c0001t0005g0012 | 2 | 296 | 0.0068 | 46 | c.118 others(63): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PIWIL3_chr22_24714034_24779720 | 24757637 | C | CACATATA others(39): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 386 | 0.0026 | 46 | c.355 others(61): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24757659 | T | TACACACA others(39): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 386 | 0.0026 | 46 | c.355 others(61): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24757661 | C | CACACACA others(39): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 386 | 0.0026 | 46 | c.355 others(61): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104211 | A | AAGGGGGA others(39): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0014t0022 | a0001c0001t0002g0079a0001c0001t0002g0080a0001c0001t0002g0081others(2): Show | 5 | 216 | 0.0232 | 46 | c.816 others(63): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104211 | A | AAGGGGGA others(39): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02970.hp2 |
a0017a0057 | a0017c0015a0057c0046 | a0017c0015t0011a0057c0046t0011 | a0017c0015t0011g0200a0057c0046t0011g0201 | 2 | 216 | 0.0093 | 46 | c.816 others(63): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51801639 | T | TTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0094 | a0001c0094t0001 | a0001c0094t0001g0131 | 1 | 134 | 0.0075 | 46 | c.830 others(67): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401568 | C | CCCGCTCA others(39): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 216 | 0.0046 | 46 | c.173 others(63): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 402936 | G | GACCCCCG others(39): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02683.hp1 |
a0001a0007 | a0001c0003a0007c0034 | a0001c0003t0001a0007c0034t0001 | a0001c0003t0001g0101a0001c0003t0001g0102a0007c0034t0001g0163 | 3 | 216 | 0.0139 | 46 | c.173 others(63): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLA2G4C_chr19_48042846_48115817 | 48055389 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0014 | a0014c0059 | a0014c0059t0004 | a0014c0059t0004g0025 | 1 | 322 | 0.0031 | 46 | c.125 others(63): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 14/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105943 | C | CTTCTTTC others(39): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0012 | a0005c0012t0012 | a0005c0012t0012g0318 | 1 | 322 | 0.0031 | 46 | c.9-5 others(57): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLAAT3_chr11_63569462_63619433 | 63615018 | A | ATATATAT others(39): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 352 | 0.0028 | 46 | c.-68 others(55): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 586 | chr11 | TogoVar | ||||||
PLAAT3_chr11_63569462_63619433 | 63615022 | A | ATATATAT others(39): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG00738.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0007others(16): Show | 19 | 352 | 0.0540 | 46 | c.-69 others(55): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 590 | chr11 | TogoVar | ||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0339 | 1 | 378 | 0.0027 | 46 | c.-27 others(63): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171639583 | C | CATATAAT others(39): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02630.hp1 others(6): Show |
a0001a0014 | a0001c0002a0014c0022 | a0001c0002t0007a0001c0002t0017a0014c0022t0007 | a0001c0002t0007g0090a0001c0002t0007g0112a0001c0002t0007g0284others(6): Show | 9 | 294 | 0.0306 | 46 | c.259 others(65): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242207792 | A | ATATATTT others(39): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0151 | 1 | 188 | 0.0053 | 46 | c.735 others(65): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19308897 | G | GCGCGTGC others(39): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0033 | 1 | 316 | 0.0032 | 46 | c.203 others(65): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(39): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01074.hp1 HG02258.hp2 others(10): Show |
a0002a0004a0006others(4): Show | a0002c0003a0004c0006a0006c0021others(6): Show | a0002c0003t0011a0004c0006t0065a0006c0021t0018others(9): Show | a0002c0003t0011g0210a0004c0006t0065g0208a0006c0021t0018g0198others(10): Show | 13 | 210 | 0.0619 | 46 | c.45+ others(57): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(39): Show |
intron_variant | MODIFIER | HG02293.hp1 NA18944.hp1 NA18995.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126a0001c0002t0001g0141a0001c0002t0001g0257 | 3 | 384 | 0.0078 | 46 | c.212 others(65): 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(39): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0311 | 1 | 384 | 0.0026 | 46 | c.212 others(65): 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(39): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0301 | 1 | 384 | 0.0026 | 46 | c.212 others(65): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLK3_chr1_44795377_44810990 | 44795678 | T | TATATATA others(39): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 384 | 0.0026 | 46 | c.-47 others(57): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4698 | chr1 | TogoVar | ||||||
PLK3_chr1_44795377_44810990 | 44795708 | T | TATATAAA others(39): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 46 | c.-47 others(57): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4668 | chr1 | TogoVar | ||||||
PLK3_chr1_44795377_44810990 | 44797983 | A | AAAAAAAA others(39): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 384 | 0.0026 | 46 | c.-24 others(57): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 2393 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56518715 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG01081.hp1 HG04115.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0258a0001c0003t0004g0024 | 2 | 336 | 0.0060 | 46 | c.633 others(63): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557052 | G | GAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0053 | 2 | 336 | 0.0060 | 46 | c.140 others(65): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557056 | G | GAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02080.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0078a0001c0001t0001g0275a0001c0001t0001g0277others(8): Show | 11 | 336 | 0.0327 | 46 | c.140 others(65): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56557076 | A | AAGAAAGA others(39): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 | 1 | 336 | 0.0030 | 46 | c.140 others(65): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349153 | T | TCTTTCTT others(39): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 436 | 0.0023 | 46 | c.*32 others(57): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2301 | chr19 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349162 | C | CTTTCTTT others(39): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 436 | 0.0023 | 46 | c.*31 others(57): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2292 | chr19 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349162 | C | CTTTCTTT others(39): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0048 | 2 | 436 | 0.0046 | 46 | c.*31 others(57): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2292 | chr19 | TogoVar | ||||||
PLXDC1_chr17_39058313_39156637 | 39128109 | A | ATATATAC others(39): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02165.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0058a0001c0002t0057 | a0001c0001t0058g0285a0001c0002t0057g0286 | 2 | 320 | 0.0063 | 46 | c.255 others(65): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0050 | 1 | 180 | 0.0056 | 46 | c.131 others(65): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01106.hp2 NA18961.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0034a0002c0002t0048others(2): Show | a0002c0002t0002g0017a0002c0002t0034g0094a0002c0002t0048g0084others(2): Show | 5 | 180 | 0.0278 | 46 | c.131 others(65): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXNA4_chr7_132118340_132581470 | 132188996 | G | GAGGAGAG others(39): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0010 | 1 | 88 | 0.0114 | 46 | c.285 others(65): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50307773 | G | GGAGGGGG others(39): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(60): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0006others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(19): Show | a0001c0002t0001g0181a0001c0002t0002g0133a0001c0002t0002g0139others(60): Show | 63 | 302 | 0.2086 | 46 | c.-29 others(55): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 128 | chr22 | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998362 | C | CATATTTA others(39): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014 | 2 | 286 | 0.0070 | 46 | c.-46 others(57): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4247 | chrX | TogoVar | ||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTG others(39): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0040 | 1 | 454 | 0.0022 | 46 | c.-20 others(57): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(39): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0036 | 1 | 440 | 0.0023 | 46 | c.-21 others(57): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24921892 | T | TTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012 | 2 | 197 | 0.0102 | 46 | c.416 others(65): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
POMT1_chr9_131497918_131528799 | 131516023 | C | CTCACACT others(39): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0192 | 1 | 334 | 0.0030 | 46 | c.127 others(63): Show |
POMT1 | ENSG00000130714.19 | transcript | ENST00000402686.8 | protein_coding | 13/19 | chr9 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75989077 | T | TGGAGGGG others(39): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0269 | 1 | 278 | 0.0036 | 46 | c.*25 others(57): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2223 | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75989106 | G | GTGGAGGT others(39): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02293.hp1 HG04115.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050a0001c0002t0001g0119a0001c0002t0001g0126 | 3 | 278 | 0.0108 | 46 | c.*26 others(57): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2252 | chr7 | TogoVar | ||||||
POTEB2_chr15_20830372_20871314 | 20837140 | T | TGTGTGTG others(39): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19002.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0002 | a0001c0002t0002g0004a0002c0001t0002g0003 | 2 | 4 | 0.5000 | 46 | c.142 others(63): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | TogoVar | ||||||
POU2F1_chr1_167215886_167432340 | 167237772 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0093 | 1 | 292 | 0.0034 | 46 | c.61+ others(63): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |