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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRRC2C_chr1_171480530_171598511 | 171586063 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG00741.hp2 others(27): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0003c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0100 others(27): Show |
30 | 87 | 0.3448 | 9 | c.775 others(26): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32837541 | G | GATGATGA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03098.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0040 | a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0070 others(1): Show |
4 | 211 | 0.0190 | 9 | c.267 others(24): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32837541 | G | GATTATTA others(2): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03654.hp1 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0089 |
3 | 210 | 0.0143 | 9 | c.267 others(24): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRT1B_chr9_131540523_131564815 | 131547065 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02258.hp1 HG02258.hp2 others(14): Show |
a0002a0010 | a0002c0003a0010c0013 | a0002c0003t0002a0002c0003t0003a0002c0003t0005others(2): Show | a0002c0003t0002g0015 a0002c0003t0002g0023 a0002c0003t0002g0033 others(6): Show |
17 | 137 | 0.1241 | 9 | c.25+ others(24): Show |
PRRT1B | ENSG00000283526.2 | transcript | ENST00000636672.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128365067 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG02004.hp1 HG02040.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0003a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0002t0003g0001 a0001c0003t0001g0061 a0001c0003t0001g0132 others(4): Show |
10 | 31 | 0.3226 | 9 | c.-36 others(20): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3378 | chr7 | TogoVar | |||||||
PRRX1_chr1_170659131_170744421 | 170669425 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03139.hp1 HG03195.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 others(4): Show |
7 | 45 | 0.1556 | 9 | c.241 others(26): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170740632 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00642.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0264 a0001c0001t0002g0009 a0001c0001t0002g0056 others(19): Show |
22 | 72 | 0.3056 | 9 | c.*44 others(20): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1212 | chr1 | TogoVar | |||||||
PRRX2_chr9_129660647_129727674 | 129706299 | T | TAACTGAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG02056.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0071 others(16): Show |
19 | 356 | 0.0534 | 9 | c.260 others(28): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
PRSS22_chr16_2847730_2863170 | 2851650 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01169.hp2 HG01496.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0031 others(10): Show |
18 | 201 | 0.0896 | 9 | c.*14 others(20): Show |
PRSS22 | ENSG00000005001.10 | transcript | ENST00000161006.8 | protein_coding | 1079 | chr16 | TogoVar | |||||||
PRSS48_chr4_151272161_151296862 | 151273589 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01256.hp2 HG01257.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(8): Show |
16 | 175 | 0.0914 | 9 | c.-35 others(20): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 3571 | chr4 | TogoVar | |||||||
PRSS48_chr4_151272161_151296862 | 151286982 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0035 others(4): Show |
13 | 263 | 0.0494 | 9 | c.651 others(26): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRSS57_chr19_680546_700452 | 689222 | G | GGGGCTGG others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0065 others(3): Show |
7 | 333 | 0.0210 | 9 | c.379 others(26): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24895253 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0002g0319 others(3): Show |
6 | 115 | 0.0522 | 9 | c.340 others(28): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24898463 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0046 others(52): Show |
55 | 174 | 0.3161 | 9 | c.340 others(28): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55645433 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02145.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0021a0004c0004t0023a0004c0004t0030others(5): Show | a0001c0001t0021g0060 a0004c0004t0023g0056 a0004c0004t0023g0057 others(8): Show |
11 | 57 | 0.1930 | 9 | c.204 others(28): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55708148 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02559.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0013a0002c0002t0014a0002c0002t0027others(3): Show | a0002c0002t0013g0016 a0002c0002t0013g0029 a0002c0002t0014g0020 others(7): Show |
10 | 54 | 0.1852 | 9 | c.398 others(28): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 2/19 | chr15 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55747924 | T | TAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(239): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(93): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 others(238): Show |
242 | 282 | 0.8582 | 9 | c.-49 others(20): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 4773 | chr15 | TogoVar | |||||||
PRTN3_chr19_835999_853175 | 842586 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01934.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0053 a0001c0001t0001g0091 a0001c0001t0001g0099 others(14): Show |
18 | 144 | 0.1250 | 9 | c.62- others(22): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76676077 | C | CAAAAACA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01069.hp2 others(35): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0011others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0120 a0001c0001t0002g0121 a0001c0001t0003g0100 others(35): Show |
38 | 78 | 0.4872 | 9 | c.827 others(30): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 9/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76693439 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01106.hp2 HG01192.hp1 others(10): Show |
a0002a0004a0009 | a0002c0002a0004c0005a0009c0010 | a0002c0002t0001a0004c0005t0001a0004c0005t0002others(5): Show | a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0080 others(10): Show |
13 | 46 | 0.2826 | 9 | c.827 others(28): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 9/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76837441 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00673.hp2 others(48): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0230 a0001c0001t0003g0066 a0001c0001t0003g0219 others(48): Show |
51 | 117 | 0.4359 | 9 | c.508 others(26): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 4/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76894717 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03540.hp1 HG03579.hp1 others(3): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0015a0005c0009others(3): Show | a0001c0001t0004a0003c0015t0003a0005c0009t0009others(3): Show | a0001c0001t0004g0157 a0003c0015t0003g0159 a0005c0009t0009g0033 others(3): Show |
6 | 147 | 0.0408 | 9 | c.36+ others(26): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40400592 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02886.hp2 HG03225.hp1 others(3): Show |
a0002a0027 | a0002c0002a0027c0025 | a0002c0002t0001a0027c0025t0001 | a0002c0002t0001g0091 a0002c0002t0001g0094 a0002c0002t0001g0095 others(3): Show |
6 | 110 | 0.0545 | 9 | c.185 others(26): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40402774 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01891.hp2 HG02071.hp1 others(24): Show |
a0002a0005a0019others(2): Show | a0002c0002a0005c0005a0019c0023others(2): Show | a0002c0002t0001a0005c0005t0001a0005c0005t0002others(3): Show | a0002c0002t0001g0019 a0002c0002t0001g0053 a0002c0002t0001g0065 others(22): Show |
27 | 171 | 0.1579 | 9 | c.184 others(24): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40409451 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00639.hp1 others(90): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0003c0003others(17): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(18): Show | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0068 others(67): Show |
93 | 185 | 0.5027 | 9 | c.-24 others(28): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
PSAP_chr10_71811298_71856251 | 71833016 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01256.hp2 HG01361.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 others(3): Show |
6 | 331 | 0.0181 | 9 | c.175 others(26): Show |
PSAP | ENSG00000197746.15 | transcript | ENST00000394936.8 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18570843 | C | CTATCATT others(2): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03831.hp2 NA18939.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0015 | a0001c0002t0001a0001c0002t0017a0002c0003t0040others(1): Show | a0001c0002t0001g0085 a0001c0002t0017g0181 a0002c0003t0040g0058 others(1): Show |
4 | 95 | 0.0421 | 9 | c.278 others(28): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 14/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18570843 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00738.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(21): Show | a0001c0001t0001g0047 a0001c0001t0003g0004 a0001c0001t0003g0132 others(23): Show |
26 | 117 | 0.2222 | 9 | c.278 others(28): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 14/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18616628 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0022a0002c0011others(2): Show | a0001c0001t0022a0001c0001t0058a0001c0022t0006others(3): Show | a0001c0001t0022g0191 a0001c0001t0058g0008 a0001c0022t0006g0201 others(3): Show |
6 | 35 | 0.1714 | 9 | c.241 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 11/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18743959 | T | TCACCACC others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02698.hp2 others(8): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0030a0001c0001t0043others(6): Show | a0001c0001t0001g0075 a0001c0001t0030g0152 a0001c0001t0043g0159 others(8): Show |
11 | 45 | 0.2444 | 9 | c.217 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18752554 | A | AATTATAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01952.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0073 a0001c0001t0001g0205 a0001c0001t0002g0133 others(19): Show |
22 | 217 | 0.1014 | 9 | c.217 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18752559 | T | TATATATT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(72): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0016others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0055 others(72): Show |
75 | 226 | 0.3319 | 9 | c.217 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18756544 | C | CACAAAGG others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00738.hp1 others(89): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0013others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0066 others(89): Show |
92 | 226 | 0.4071 | 9 | c.217 others(28): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18838848 | A | AATAATAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02897.hp1 HG06807.hp2 |
a0001a0006 | a0001c0001a0001c0002a0006c0012 | a0001c0001t0042a0001c0002t0017a0006c0012t0010 | a0001c0001t0042g0158 a0001c0002t0017g0181 a0006c0012t0010g0187 |
3 | 223 | 0.0135 | 9 | c.163 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18899799 | T | TTGGTATC others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02148.hp1 HG02257.hp2 others(9): Show |
a0002a0004 | a0002c0003a0004c0006a0004c0009others(1): Show | a0002c0003t0009a0004c0006t0001a0004c0006t0004others(7): Show | a0002c0003t0009g0017 a0004c0006t0001g0041 a0004c0006t0001g0071 others(9): Show |
12 | 226 | 0.0531 | 9 | c.131 others(28): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18984192 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
a0001a0003a0010 | a0001c0001a0003c0004a0010c0026 | a0001c0001t0003a0001c0001t0030a0003c0004t0001others(1): Show | a0001c0001t0003g0153 a0001c0001t0030g0152 a0003c0004t0001g0172 others(1): Show |
4 | 152 | 0.0263 | 9 | c.21+ others(26): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
PSG4_chr19_43187702_43210638 | 43205032 | C | CCCTGTCC others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(37): Show |
a0002a0015 | a0002c0002a0002c0037a0015c0020 | a0002c0002t0003a0002c0002t0006a0002c0002t0017others(3): Show | a0002c0002t0003g0002 a0002c0002t0003g0020 a0002c0002t0003g0160 others(20): Show |
40 | 296 | 0.1351 | 9 | c.64+ others(22): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01261.hp1 HG01884.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0206 others(3): Show |
9 | 144 | 0.0625 | 9 | c.430 others(26): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933308 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0131 a0001c0001t0001g0147 a0002c0003t0003g0033 others(1): Show |
6 | 341 | 0.0176 | 9 | c.430 others(26): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG8_chr19_42749233_42770678 | 42761045 | C | CACAAGTG others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 HG03225.hp2 others(2): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0158 a0005c0007t0001g0159 a0005c0007t0001g0160 others(2): Show |
5 | 435 | 0.0115 | 9 | c.431 others(26): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35628629 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01433.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0004g0097 others(3): Show |
6 | 235 | 0.0255 | 9 | c.285 others(26): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PSMB4_chr1_151394573_151406937 | 151398423 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01192.hp1 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 23 | 32 | 0.7188 | 9 | c.-11 others(20): Show |
PSMB4 | ENSG00000159377.11 | transcript | ENST00000290541.7 | protein_coding | 1149 | chr1 | TogoVar | |||||||
PSMB6_chr17_4791164_4803495 | 4792036 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(230): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(14): Show |
233 | 234 | 0.9957 | 9 | c.-41 others(20): Show |
PSMB6 | ENSG00000142507.10 | transcript | ENST00000270586.8 | protein_coding | 4127 | chr17 | TogoVar | |||||||
PSMB6_chr17_4791164_4803495 | 4794937 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG02040.hp1 others(13): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0001 a0001c0004t0001g0005 |
16 | 87 | 0.1839 | 9 | c.-12 others(20): Show |
PSMB6 | ENSG00000142507.10 | transcript | ENST00000270586.8 | protein_coding | 1226 | chr17 | TogoVar | |||||||
PSMC1_chr14_90251553_90280429 | 90265688 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02717.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0014a0001c0002t0042a0001c0002t0064others(5): Show | a0001c0002t0014g0023 a0001c0002t0014g0085 a0001c0002t0014g0086 others(8): Show |
12 | 181 | 0.0663 | 9 | c.691 others(24): Show |
PSMC1 | ENSG00000100764.14 | transcript | ENST00000261303.13 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMC3IP_chr17_42567310_42582729 | 42579242 | G | GAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0040 |
18 | 36 | 0.5000 | 9 | c.-15 others(20): Show |
PSMC3IP | ENSG00000131470.15 | transcript | ENST00000393795.8 | protein_coding | 1514 | chr17 | TogoVar | |||||||
PSMC6_chr14_52702200_52733590 | 52712384 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01081.hp1 HG02015.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0133 others(9): Show |
15 | 173 | 0.0867 | 9 | c.441 others(24): Show |
PSMC6 | ENSG00000100519.12 | transcript | ENST00000445930.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMD11_chr17_32439510_32488319 | 32487007 | T | TGCCGCCG others(2): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03486.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0011 a0001c0001t0007g0172 a0001c0001t0007g0173 |
3 | 278 | 0.0108 | 9 | c.*62 others(20): Show |
PSMD11 | ENSG00000108671.11 | transcript | ENST00000261712.8 | protein_coding | 3689 | chr17 | TogoVar | |||||||
PSMD12_chr17_67332916_67371577 | 67351392 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00642.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0010 others(52): Show |
61 | 219 | 0.2785 | 9 | c.298 others(26): Show |
PSMD12 | ENSG00000197170.10 | transcript | ENST00000356126.8 | protein_coding | 3/10 | chr17 | TogoVar | |||||||
PSMD12_chr17_67332916_67371577 | 67356557 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG01070.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0034 a0001c0001t0002g0040 others(25): Show |
30 | 162 | 0.1852 | 9 | c.297 others(24): Show |
PSMD12 | ENSG00000197170.10 | transcript | ENST00000356126.8 | protein_coding | 3/10 | chr17 | TogoVar |