view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OPRL1_chr20_64075082_64105633 | 64105613 | G | GGGTGATG others(95): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 60 | 0.0167 | 102 | c.*68 others(113): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 4981 | chr20 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64105613 | G | GGGTGATG others(95): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0013 | 1 | 60 | 0.0167 | 102 | c.*68 others(113): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 4981 | chr20 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20236305 | C | CTATATAT others(95): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 387 | 0.0026 | 102 | c.-30 others(113): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2980 | chr14 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20236873 | T | TATATTAC others(95): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 431 | 0.0023 | 102 | c.-24 others(113): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2412 | chr14 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20236907 | T | TATATTAC others(95): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 365 | 0.0027 | 102 | c.-24 others(113): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2378 | chr14 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237009 | T | TATATTAC others(95): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 293 | 0.0034 | 102 | c.-23 others(113): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2276 | chr14 | TogoVar | |||||||
OR2L13_chr1_248090184_248106163 | 248103035 | T | TTTAATTA others(95): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0046 |
2 | 385 | 0.0052 | 102 | c.*27 others(113): Show |
OR2L13 | ENSG00000196071.6 | transcript | ENST00000358120.4 | protein_coding | 1873 | chr1 | TogoVar | |||||||
OR2T12_chr1_248285139_248308424 | 248306608 | C | CCCCTGAG others(95): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0017 | a0017c0026 | a0017c0026t0003 | a0017c0026t0003g0043 | 1 | 244 | 0.0041 | 102 | c.-34 others(113): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3185 | chr1 | TogoVar | |||||||
OR4M2B_chr15_21632909_21643992 | 21642192 | C | CATATATA others(95): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0000 | 1 | 190 | 0.0053 | 102 | c.*32 others(113): Show |
OR4M2B | ENSG00000182974.3 | transcript | ENST00000332663.3 | protein_coding | 3201 | chr15 | TogoVar | |||||||
OR52E6_chr11_5835928_5846897 | 5844216 | T | TTTATATA others(95): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 NA18951.hp1 NA18974.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 193 | 0.0363 | 102 | c.-23 others(113): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2320 | chr11 | TogoVar | |||||||
OR5AN1_chr11_59353895_59376714 | 59356682 | A | AGAGGGGA others(95): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0011 | a0002c0011t0029 | a0002c0011t0029g0046 | 1 | 138 | 0.0072 | 102 | c.-26 others(113): Show |
OR5AN1 | ENSG00000176495.3 | transcript | ENST00000641998.1 | protein_coding | 2212 | chr11 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104124143 | G | GTTCATGG others(95): Show |
downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0145 | 1 | 364 | 0.0027 | 102 | c.*27 others(113): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2197 | chr7 | TogoVar | |||||||
P2RX1_chr17_3891592_3921465 | 3918178 | G | GGAAGGAA others(95): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0059 a0001c0001t0012g0061 |
2 | 72 | 0.0278 | 102 | c.-19 others(113): Show |
P2RX1 | ENSG00000108405.4 | transcript | ENST00000225538.4 | protein_coding | 1714 | chr17 | TogoVar | |||||||
PADI4_chr1_17303197_17369004 | 17351984 | G | GGTGGGAA others(95): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0141 | 1 | 318 | 0.0031 | 102 | c.115 others(121): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PADI4_chr1_17303197_17369004 | 17352114 | T | TGTGGTCA others(95): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 370 | 0.0027 | 102 | c.115 others(121): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PADI4_chr1_17303197_17369004 | 17352194 | G | GGAGATGG others(95): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0016 | a0016c0024 | a0016c0024t0002 | a0016c0024t0002g0202 | 1 | 356 | 0.0028 | 102 | c.115 others(121): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAIP2B_chr2_71177738_71232103 | 71203360 | T | TAATTATT others(95): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01928.hp2 HG01975.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0058 a0001c0001t0001g0070 |
4 | 364 | 0.0110 | 102 | c.-11 others(117): Show |
PAIP2B | ENSG00000124374.9 | transcript | ENST00000244221.9 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811324 | T | TTTCCTTC others(95): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 153 | 0.0065 | 102 | c.773 others(117): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811326 | C | CCTTCCCT others(95): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03130.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031 | a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0031g0050 |
3 | 145 | 0.0207 | 102 | c.773 others(117): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67302828 | C | CTCAGTAC others(95): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059 | 1 | 288 | 0.0035 | 102 | c.963 others(117): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(95): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 108 | 0.0093 | 102 | c.181 others(119): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(95): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0121 | 1 | 108 | 0.0093 | 102 | c.181 others(119): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(95): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0097 others(2): Show |
5 | 112 | 0.0446 | 102 | c.181 others(119): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(95): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01099.hp2 HG01515.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0012 | a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0102 others(8): Show |
14 | 121 | 0.1157 | 102 | c.181 others(119): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(95): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 108 | 0.0093 | 102 | c.181 others(119): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(95): Show |
intron_variant | MODIFIER | NA18973.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0196 a0001c0001t0003g0074 |
2 | 109 | 0.0183 | 102 | c.181 others(119): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94137866 | C | CTATCTTG others(95): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 2 | 109 | 0.0183 | 102 | c.181 others(119): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAPLN_chr14_73232506_73279623 | 73263901 | T | TTGACAGG others(95): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0297 | 1 | 414 | 0.0024 | 102 | c.286 others(119): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAPLN_chr14_73232506_73279623 | 73263919 | A | AGCCCCCC others(95): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0363 | 1 | 413 | 0.0024 | 102 | c.286 others(119): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PARL_chr3_183824271_183889880 | 183882222 | A | AAAAAAAA others(95): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 287 | 0.0035 | 102 | c.125 others(119): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882222 | A | AAAAAAAA others(95): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 287 | 0.0035 | 102 | c.125 others(119): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44112701 | A | AAAGCCCT others(95): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0027 | a0001c0027t0039 | a0001c0027t0039g0319 | 1 | 288 | 0.0035 | 102 | c.274 others(119): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562850 | C | CGGTGGTC others(95): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 1 | 212 | 0.0047 | 102 | c.-10 others(113): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 824 | chrX | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45739334 | C | CATCTTCA others(95): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 290 | 0.0034 | 102 | c.-16 others(121): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83096990 | A | ATATATTA others(95): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG02897.hp1 others(3): Show |
a0008a0044 | a0008c0008a0008c0073a0044c0074 | a0008c0008t0003a0008c0073t0003a0044c0074t0003 | a0008c0008t0003g0119 a0008c0008t0003g0120 a0008c0008t0003g0182 others(3): Show |
6 | 159 | 0.0377 | 102 | c.330 others(123): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76351447 | G | GAAAGGAA others(95): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0036 | 1 | 108 | 0.0093 | 102 | c.506 others(119): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | chr9 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741151 | G | GGCGGGGG others(95): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0335 | 1 | 305 | 0.0033 | 102 | c.143 others(117): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741338 | G | GGGGGGCT others(95): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0259 | 1 | 299 | 0.0033 | 102 | c.143 others(117): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741361 | C | CGGGGGGG others(95): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 301 | 0.0033 | 102 | c.143 others(117): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741442 | G | GGGGGGCT others(95): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0066 | a0001c0002t0066g0220 | 1 | 214 | 0.0047 | 102 | c.143 others(117): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741442 | G | GGGGGGGC others(95): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0063 | 1 | 214 | 0.0047 | 102 | c.143 others(117): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741465 | G | GGGGGGGC others(95): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235 | 1 | 296 | 0.0034 | 102 | c.143 others(117): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43743257 | C | CTCCCCCC others(95): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0097 | 1 | 341 | 0.0029 | 102 | c.248 others(117): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43743497 | T | TTGCACCC others(95): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02559.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0055 | a0001c0001t0002g0039 a0001c0001t0002g0054 a0001c0001t0002g0067 others(3): Show |
6 | 243 | 0.0247 | 102 | c.248 others(117): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43743519 | A | AGCCCCCG others(95): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0005 | a0001c0005t0067 | a0001c0005t0067g0224 | 1 | 354 | 0.0028 | 102 | c.248 others(117): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(95): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01261.hp1 HG02040.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
9 | 22 | 0.4091 | 102 | c.*48 others(113): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(95): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 14 | 0.0714 | 102 | c.*48 others(113): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(95): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 14 | 0.0714 | 102 | c.*48 others(113): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PEX7_chr6_136817592_136918934 | 136862019 | T | TTATATAT others(95): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 326 | 0.0031 | 102 | c.527 others(119): Show |
PEX7 | ENSG00000112357.14 | transcript | ENST00000318471.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011641 | T | TGGTGTGG others(95): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01433.hp1 HG02258.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0015 | a0001c0003t0001g0205 a0001c0003t0001g0207 a0001c0003t0015g0206 |
3 | 331 | 0.0091 | 102 | c.28- others(117): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |