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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OXR1_chr8_106265190_106757694 | 106285905 | T | TCCTTCTG others(42): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0006g0002 |
3 | 172 | 0.0174 | 49 | c.-13 others(70): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
P2RX2_chr12_132613776_132627388 | 132618232 | A | AGAAAGAA others(42): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 49 | c.-58 others(58): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 543 | chr12 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121130818 | A | AAGAAAGA others(42): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0213 | 1 | 366 | 0.0027 | 49 | c.-21 others(60): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2057 | chr12 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121130820 | A | AAGAAAGA others(42): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 HG03486.hp2 |
a0014 | a0014c0012 | a0014c0012t0007a0014c0012t0019 | a0014c0012t0007g0349 a0014c0012t0019g0350 |
2 | 366 | 0.0055 | 49 | c.-21 others(60): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2055 | chr12 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1459873 | A | ATGTATGT others(42): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0054 | 1 | 114 | 0.0088 | 49 | c.*56 others(60): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 2707 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1490611 | G | GGAATGAA others(42): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 114 | 0.0088 | 49 | c.-24 others(68): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P4HA2_chr5_132185147_132232853 | 132208421 | G | GGGGGAGG others(42): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0213 | 1 | 426 | 0.0024 | 49 | c.904 others(64): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
PABIR2_chrX_134764566_134802205 | 134773613 | T | TCAAACAA others(42): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01261.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(28): Show |
35 | 217 | 0.1613 | 49 | c.660 others(66): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 9/9 | chrX | TogoVar | |||||||
PACS2_chr14_105309748_105403147 | 105330150 | C | CGAGAAGC others(42): Show |
intron_variant | MODIFIER | HG03704.hp1 HG04184.hp1 NA18945.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0011a0002c0002t0036 | a0002c0002t0001g0019 a0002c0002t0011g0020 a0002c0002t0011g0021 others(1): Show |
4 | 210 | 0.0191 | 49 | c.119 others(68): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811321 | T | TCCTTTCC others(42): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG02922.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0053a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0053g0006 a0001c0002t0001g0003 a0001c0002t0005g0155 others(2): Show |
5 | 178 | 0.0281 | 49 | c.773 others(64): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70535485 | C | CCTTCCTT others(42): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0005g0190 a0001c0001t0005g0215 a0001c0001t0006g0126 others(2): Show |
5 | 308 | 0.0162 | 49 | c.122 others(66): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110098153 | A | AAGAGAGG others(42): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG02486.hp1 others(3): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0008 | a0001c0001t0006a0001c0001t0011a0003c0003t0001others(1): Show | a0001c0001t0006g0163 a0001c0001t0011g0162 a0003c0003t0001g0001 others(3): Show |
6 | 222 | 0.0270 | 49 | c.583 others(68): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAT others(42): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 222 | 0.0045 | 49 | c.583 others(64): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102988607 | A | AGGGAGGA others(42): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 188 | 0.0053 | 49 | c.148 others(68): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAATATAT others(42): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0276 | 1 | 416 | 0.0024 | 49 | c.635 others(64): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANX1_chr11_94123841_94186968 | 94125547 | T | TCACTCTG others(42): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0008others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 others(302): Show |
369 | 408 | 0.9044 | 49 | c.-37 others(60): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 3293 | chr11 | TogoVar | |||||||
PAPPA_chr9_116148791_116407321 | 116264173 | T | TAGAATTA others(42): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0006 | a0002c0006t0015 | a0002c0006t0015g0025 | 1 | 234 | 0.0043 | 49 | c.273 others(68): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300937 | C | CTTTCTTT others(42): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0188 | 1 | 284 | 0.0035 | 49 | c.-27 others(68): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR9_chr3_142949585_142968674 | 142966772 | A | AAATGCCA others(42): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 446 | 0.0022 | 49 | c.-34 others(60): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 3099 | chr3 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205489551 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03486.hp2 NA19240.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0026 | a0001c0001t0001a0002c0002t0001a0004c0026t0004 | a0001c0001t0001g0042 a0002c0002t0001g0027 a0004c0026t0004g0041 |
3 | 54 | 0.0556 | 49 | c.304 others(70): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34640708 | C | CAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0094 | 1 | 100 | 0.0100 | 49 | c.222 others(68): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PBDC1_chrX_76168062_76183314 | 76180537 | G | GTTATTTT others(42): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 293 | 0.0034 | 49 | c.*26 others(60): Show |
PBDC1 | ENSG00000102390.11 | transcript | ENST00000373358.8 | protein_coding | 2224 | chrX | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125779866 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG03471.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 a0001c0001t0001g0292 |
2 | 294 | 0.0068 | 49 | c.274 others(68): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125779866 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 others(6): Show |
9 | 294 | 0.0306 | 49 | c.274 others(68): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125779866 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(154): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0001g0132 others(152): Show |
157 | 294 | 0.5340 | 49 | c.274 others(68): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBP1_chr2_70082477_70094203 | 70091264 | C | CCTCAGAC others(42): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 404 | 0.0025 | 49 | c.*24 others(60): Show |
PCBP1 | ENSG00000169564.7 | transcript | ENST00000303577.7 | protein_coding | 2062 | chr2 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45746675 | G | GTTGTGTC others(42): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0023 | 1 | 292 | 0.0034 | 49 | c.-16 others(68): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | chr21 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 731651 | C | CTCCTCCC others(42): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0038 | 1 | 366 | 0.0027 | 49 | c.-10 others(64): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 731948 | C | CCCCCTCC others(42): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0275 | 1 | 366 | 0.0027 | 49 | c.-10 others(64): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 731971 | T | TGGTCCTC others(42): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02965.hp2 HG03490.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0027 | a0001c0001t0003g0017 a0001c0001t0003g0056 a0001c0001t0014g0026 others(2): Show |
5 | 366 | 0.0137 | 49 | c.-10 others(64): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762550 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03688.hp2 HG03831.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0044 a0002c0002t0002g0105 a0002c0002t0002g0106 |
3 | 334 | 0.0090 | 49 | c.56- others(64): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(42): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 424 | 0.0024 | 49 | c.354 others(66): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(42): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0095 |
2 | 424 | 0.0047 | 49 | c.354 others(66): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586572 | G | GTGTGTGT others(42): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0035 |
5 | 424 | 0.0118 | 49 | c.354 others(66): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46423697 | G | GGAGGAGG others(42): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02723.hp2 |
a0020 | a0020c0028 | a0020c0028t0001 | a0020c0028t0001g0109 a0020c0028t0001g0120 |
2 | 332 | 0.0060 | 49 | c.717 others(68): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311936 | C | CCCCTCAC others(42): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0063 | 1 | 336 | 0.0030 | 49 | c.269 others(68): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101312088 | C | CCCCTCAC others(42): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01346.hp1 others(5): Show |
a0001a0008 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0004t0002others(3): Show | a0001c0001t0002g0206 a0001c0001t0005g0256 a0001c0004t0002g0073 others(5): Show |
8 | 336 | 0.0238 | 49 | c.269 others(68): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101312088 | C | CCCCTCAC others(42): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18945.hp1 NA18986.hp1 |
a0001a0009 | a0001c0001a0009c0078 | a0001c0001t0002a0009c0078t0001 | a0001c0001t0002g0142 a0001c0001t0002g0156 a0009c0078t0001g0328 |
3 | 336 | 0.0089 | 49 | c.269 others(68): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCTP_chr17_55746051_55782374 | 55769593 | T | TGGGGGGG others(42): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 288 | 0.0035 | 49 | c.260 others(66): Show |
PCTP | ENSG00000141179.14 | transcript | ENST00000268896.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PCYOX1_chr2_70253137_70286185 | 70275327 | T | TGGGGGGG others(42): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0124 | 1 | 424 | 0.0024 | 49 | c.706 others(64): Show |
PCYOX1 | ENSG00000116005.12 | transcript | ENST00000433351.7 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAATAT others(42): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 260 | 0.0039 | 49 | c.117 others(66): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66873521 | T | TATAATAT others(42): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0101 |
2 | 274 | 0.0073 | 49 | c.1-1 others(62): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177946425 | G | GCCCGGCC others(42): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0004 | a0002c0004t0042 | a0002c0004t0042g0137 | 1 | 170 | 0.0059 | 49 | c.107 others(70): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 651173 | A | AGCAGTGG others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19240.hp1 |
a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0266 a0005c0011t0001g0267 |
2 | 308 | 0.0065 | 49 | c.712 others(66): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42778563 | G | GCCCCCGC others(42): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01109.hp2 others(40): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0066 others(40): Show |
43 | 324 | 0.1327 | 49 | c.*32 others(60): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3055 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42778581 | G | GCCCCGTC others(42): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0180 a0001c0002t0001g0165 a0001c0002t0001g0168 others(4): Show |
7 | 324 | 0.0216 | 49 | c.*32 others(60): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3073 | chr21 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511336 | T | TGGCAGGG others(42): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0013 | a0013c0012 | a0013c0012t0129 | a0013c0012t0129g0203 | 1 | 302 | 0.0033 | 49 | c.266 others(64): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 334 | 0.0030 | 49 | c.313 others(66): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741245 | C | CGGGGGGG others(42): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0352 | 1 | 358 | 0.0028 | 49 | c.143 others(64): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(42): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 408 | 0.0025 | 49 | c.-26 others(60): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar |