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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRPS2_chrX_12786412_12829222 | 12826648 | G | GAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 HG02630.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0070 others(4): Show |
7 | 85 | 0.0824 | 19 | c.*38 others(30): Show |
PRPS2 | ENSG00000101911.13 | transcript | ENST00000380668.10 | protein_coding | 2427 | chrX | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76347484 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0213 a0001c0001t0003g0214 |
2 | 188 | 0.0106 | 19 | c.223 others(36): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
PRR23A_chr3_138998962_139011268 | 139010701 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 NA19090.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 2 | 63 | 0.0317 | 19 | c.-44 others(30): Show |
PRR23A | ENSG00000206260.4 | transcript | ENST00000383163.4 | protein_coding | 4434 | chr3 | TogoVar | |||||||
PRR36_chr19_7863719_7879390 | 7878618 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0022a0023 | a0022c0030a0023c0031 | a0022c0030t0001a0023c0031t0001 | a0022c0030t0001g0050 a0023c0031t0001g0051 |
2 | 152 | 0.0132 | 19 | c.-43 others(30): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 4229 | chr19 | TogoVar | |||||||
PRR5_chr22_44697204_44742681 | 44741284 | G | GGCCAACC others(12): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 440 | 0.0023 | 19 | c.*40 others(30): Show |
PRR5 | ENSG00000186654.21 | transcript | ENST00000336985.11 | protein_coding | 3604 | chr22 | TogoVar | |||||||
PRRC1_chr5_127512640_127560085 | 127531617 | C | CTTCTTTT others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02965.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0008g0134 |
3 | 8 | 0.3750 | 19 | c.757 others(36): Show |
PRRC1 | ENSG00000164244.21 | transcript | ENST00000296666.13 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131420494 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02698.hp1 NA18972.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0103 a0001c0001t0001g0105 a0003c0002t0001g0165 |
3 | 201 | 0.0149 | 19 | c.-51 others(36): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131448541 | C | CCCAAAAA others(12): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0018 | 1 | 206 | 0.0049 | 19 | c.112 others(36): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | chr9 | TogoVar | |||||||
PRRC2B_chr9_131389086_131505193 | 131448543 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03471.hp1 NA18949.hp1 NA19066.hp1 |
a0001a0022 | a0001c0001a0022c0045 | a0001c0001t0001a0001c0001t0003a0022c0045t0001 | a0001c0001t0001g0080 a0001c0001t0003g0198 a0022c0045t0001g0050 |
3 | 69 | 0.0435 | 19 | c.112 others(36): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171526805 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0082 | 1 | 177 | 0.0056 | 19 | c.120 others(36): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171569575 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0051 | 1 | 65 | 0.0154 | 19 | c.665 others(38): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 23/34 | chr1 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128365436 | A | ATGCCTGT others(12): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0030 | 1 | 446 | 0.0022 | 19 | c.-40 others(30): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3747 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128365627 | G | GGAAGGAA others(12): Show |
upstream_gene_variant | MODIFIER | NA18961.hp2 NA18965.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001 | 2 | 445 | 0.0045 | 19 | c.-42 others(30): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3938 | chr7 | TogoVar | |||||||
PRRX1_chr1_170659131_170744421 | 170669425 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02083.hp2 HG03491.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0085 others(13): Show |
16 | 54 | 0.2963 | 19 | c.241 others(36): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129684427 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 38 | 0.0263 | 19 | c.259 others(38): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
PRSS12_chr4_118275038_118358003 | 118299737 | A | AAAATAAA others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02027.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0026 a0002c0003t0002g0116 |
2 | 356 | 0.0056 | 19 | c.163 others(36): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
PRSS12_chr4_118275038_118358003 | 118316837 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 115 | 0.0087 | 19 | c.115 others(36): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
PRSS41_chr16_2793470_2810304 | 2797846 | C | CTTCTTTA others(12): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01346.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0020 a0002c0002t0001g0028 others(7): Show |
28 | 424 | 0.0660 | 19 | c.-63 others(28): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 623 | chr16 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24880876 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 335 | 0.0030 | 19 | c.340 others(36): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55645433 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01952.hp2 others(4): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0023 | a0001c0001t0001a0001c0001t0002a0001c0001t0051others(2): Show | a0001c0001t0001g0106 a0001c0001t0001g0156 a0001c0001t0001g0177 others(4): Show |
7 | 53 | 0.1321 | 19 | c.204 others(38): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | |||||||
PRXL2A_chr10_80403551_80442115 | 80406790 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0042 | 1 | 292 | 0.0034 | 19 | c.-18 others(30): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1760 | chr10 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40400592 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 105 | 0.0095 | 19 | c.185 others(36): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 157 | 0.0127 | 19 | c.870 others(36): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830608 | C | CTCTTTCT others(12): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0053 | 1 | 261 | 0.0038 | 19 | c.127 others(38): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830608 | C | CTCTTTCT others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0008 | a0008c0007 | a0008c0007t0005 | a0008c0007t0005g0112 | 1 | 261 | 0.0038 | 19 | c.127 others(38): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18594254 | T | TATAATAT others(12): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0152 | 1 | 212 | 0.0047 | 19 | c.248 others(38): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18594254 | T | TATAATAT others(12): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18965.hp2 NA18998.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0027a0002c0015others(1): Show | a0001c0001t0054a0001c0027t0037a0002c0015t0001others(1): Show | a0001c0001t0054g0054 a0001c0027t0037g0107 a0002c0015t0001g0129 others(1): Show |
4 | 215 | 0.0186 | 19 | c.248 others(38): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18821718 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0005 | a0002c0005t0070 | a0002c0005t0070g0059 | 1 | 225 | 0.0044 | 19 | c.163 others(40): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18828067 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0006 | a0006c0012 | a0006c0012t0010 | a0006c0012t0010g0187 | 1 | 156 | 0.0064 | 19 | c.163 others(40): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD_chr10_102397619_102423785 | 102411289 | A | AAGGACCT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(374): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(164): Show |
377 | 386 | 0.9767 | 19 | c.194 others(36): Show |
PSD | ENSG00000059915.17 | transcript | ENST00000020673.6 | protein_coding | 8/16 | chr10 | TogoVar | |||||||
PSD_chr10_102397619_102423785 | 102411294 | C | CCTATCCC others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0119 |
8 | 386 | 0.0207 | 19 | c.194 others(36): Show |
PSD | ENSG00000059915.17 | transcript | ENST00000020673.6 | protein_coding | 8/16 | chr10 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73151895 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0152 | 1 | 360 | 0.0028 | 19 | c.87+ others(34): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
PSG11_chr19_43002656_43031469 | 43025937 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0018 | a0003c0018t0001 | a0003c0018t0001g0114 | 1 | 358 | 0.0028 | 19 | c.64+ others(32): Show |
PSG11 | ENSG00000243130.8 | transcript | ENST00000320078.12 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG5_chr19_43162743_43191536 | 43182705 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02015.hp1 others(8): Show |
a0001a0004a0011others(1): Show | a0001c0001a0004c0004a0011c0012others(1): Show | a0001c0001t0001a0004c0004t0003a0011c0012t0003others(1): Show | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0161 others(5): Show |
11 | 75 | 0.1467 | 19 | c.430 others(36): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 136 | 0.0074 | 19 | c.430 others(36): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 136 | 0.0074 | 19 | c.430 others(36): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18966.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 a0001c0002t0002g0011 |
2 | 137 | 0.0146 | 19 | c.430 others(36): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01256.hp2 NA18962.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 a0001c0002t0002g0021 |
2 | 137 | 0.0146 | 19 | c.430 others(36): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 136 | 0.0074 | 19 | c.430 others(36): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933308 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01358.hp1 HG01884.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0024a0002c0003 | a0001c0001t0001a0001c0024t0001a0002c0003t0003 | a0001c0001t0001g0124 a0001c0001t0001g0148 a0001c0001t0001g0185 others(4): Show |
7 | 342 | 0.0205 | 19 | c.430 others(36): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15497325 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0021 | 1 | 184 | 0.0054 | 19 | c.150 others(36): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
PSMA1_chr11_14499876_14525386 | 14508561 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01175.hp1 others(35): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0037 others(10): Show |
38 | 41 | 0.9268 | 19 | c.625 others(34): Show |
PSMA1 | ENSG00000129084.18 | transcript | ENST00000396394.7 | protein_coding | 8/9 | chr11 | TogoVar | |||||||
PSMA6_chr14_35287382_35322493 | 35299327 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01981.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0001g0062 a0001c0001t0001g0125 others(7): Show |
11 | 56 | 0.1964 | 19 | c.76+ others(34): Show |
PSMA6 | ENSG00000100902.11 | transcript | ENST00000261479.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMA7_chr20_62131733_62148394 | 62146605 | A | ATTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG03209.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 a0001c0002t0002g0046 a0001c0002t0002g0050 |
3 | 53 | 0.0566 | 19 | c.-33 others(30): Show |
PSMA7 | ENSG00000101182.15 | transcript | ENST00000370873.9 | protein_coding | 3212 | chr20 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35628592 | A | AATTATAT others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 | 1 | 278 | 0.0036 | 19 | c.285 others(36): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35628594 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0159 |
2 | 257 | 0.0078 | 19 | c.285 others(36): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35628596 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0180 | 1 | 184 | 0.0054 | 19 | c.285 others(36): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35628596 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0063 | 1 | 184 | 0.0054 | 19 | c.285 others(36): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PSMC1_chr14_90251553_90280429 | 90280225 | G | GCCAGTCC others(12): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0035 | 2 | 388 | 0.0052 | 19 | c.*78 others(30): Show |
PSMC1 | ENSG00000100764.14 | transcript | ENST00000261303.13 | protein_coding | 4797 | chr14 | TogoVar | |||||||
PSMC2_chr7_103342643_103374395 | 103364984 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 373 | 0.0027 | 19 | c.756 others(34): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 8/11 | chr7 | TogoVar |