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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PROM1_chr4_15963228_16089023 | 16073557 | T | TTCATCTG others(21): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0371 | 1 | 374 | 0.0027 | 28 | c.220 others(45): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 2/27 | chr4 | TogoVar | |||||||
PRORP_chr14_35117552_35282622 | 35172453 | C | CTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG01934.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0007g0050 others(5): Show |
8 | 314 | 0.0255 | 28 | c.116 others(47): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRORP_chr14_35117552_35282622 | 35216103 | T | TATATATT others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(135): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(135): Show |
138 | 314 | 0.4395 | 28 | c.127 others(49): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11835670 | A | AGGAAGTA others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 348 | 0.0029 | 28 | c.-82 others(47): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11842931 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01255.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0101 a0001c0001t0001g0102 others(4): Show |
7 | 348 | 0.0201 | 28 | c.-81 others(45): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133749 | T | TCTCTCCA others(21): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 227 | 0.0044 | 28 | c.*23 others(39): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2037 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133834 | T | TCCCTCTC others(21): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 227 | 0.0044 | 28 | c.*24 others(39): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2122 | chr19 | TogoVar | |||||||
PRPF38B_chr1_108687310_108707928 | 108689608 | T | TAACATTA others(21): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 362 | 0.0028 | 28 | c.-29 others(39): Show |
PRPF38B | ENSG00000134186.12 | transcript | ENST00000370025.9 | protein_coding | 2701 | chr1 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0304 | 1 | 392 | 0.0026 | 28 | c.582 others(43): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAATATA others(21): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18960.hp1 NA18984.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0094 a0001c0002t0001g0290 a0001c0002t0001g0311 |
3 | 392 | 0.0077 | 28 | c.582 others(43): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPS1L1_chr7_18021770_18032846 | 18030651 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 462 | 0.0022 | 28 | c.-28 others(39): Show |
PRPS1L1 | ENSG00000229937.9 | transcript | ENST00000506618.5 | protein_coding | 2806 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
PRPS1L1_chr7_18021770_18032846 | 18030651 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG02040.hp2 NA18945.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 |
9 | 462 | 0.0195 | 28 | c.-28 others(39): Show |
PRPS1L1 | ENSG00000229937.9 | transcript | ENST00000506618.5 | protein_coding | 2806 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
PRPS2_chrX_12786412_12829222 | 12828728 | T | TTTCCTTC others(21): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0022 | 1 | 334 | 0.0030 | 28 | c.*59 others(39): Show |
PRPS2 | ENSG00000101911.13 | transcript | ENST00000380668.10 | protein_coding | 4507 | chrX | TogoVar | |||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0055 | 1 | 316 | 0.0032 | 28 | c.*79 others(39): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | |||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0084 | 1 | 316 | 0.0032 | 28 | c.*79 others(39): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | |||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0064 | 1 | 316 | 0.0032 | 28 | c.*79 others(39): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | |||||||
PRR23E_chr3_127188131_127203185 | 127189874 | G | GTATATAT others(21): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 456 | 0.0022 | 28 | c.-34 others(39): Show |
PRR23E | ENSG00000214324.5 | transcript | ENST00000624688.2 | protein_coding | 3256 | chr3 | TogoVar | |||||||
PRRC2B_chr9_131389086_131505193 | 131448543 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0048 | a0001c0001t0001a0001c0048t0001 | a0001c0001t0001g0122 a0001c0048t0001g0177 |
2 | 216 | 0.0093 | 28 | c.112 others(45): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171569575 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00673.hp1 others(17): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0093 others(17): Show |
20 | 336 | 0.0595 | 28 | c.665 others(47): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRG1_chrX_37344364_37462291 | 37376549 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03540.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0001g0202 a0001c0001t0002g0035 |
3 | 216 | 0.0139 | 28 | c.-42 others(47): Show |
PRRG1 | ENSG00000130962.18 | transcript | ENST00000378628.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PRRG1_chrX_37344364_37462291 | 37376551 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01258.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0001g0047 a0001c0001t0001g0094 a0001c0001t0001g0103 others(19): Show |
22 | 216 | 0.1019 | 28 | c.-42 others(47): Show |
PRRG1 | ENSG00000130962.18 | transcript | ENST00000378628.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151697094 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(117): Show |
a0001a0009 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(69): Show | a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0002g0001 others(72): Show |
120 | 336 | 0.3571 | 28 | c.-32 others(45): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32827195 | A | ATCCCCCC others(21): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0232 | 1 | 402 | 0.0025 | 28 | c.-30 others(39): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 2731 | chr11 | TogoVar | |||||||
PRRX1_chr1_170659131_170744421 | 170664088 | C | CCTCTCTC others(21): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 HG03831.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0054 a0001c0001t0003g0181 a0001c0001t0004g0045 |
3 | 356 | 0.0084 | 28 | c.-13 others(37): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 42 | chr1 | TogoVar | |||||||
PRRX1_chr1_170659131_170744421 | 170669425 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02970.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0036 | a0001c0001t0035g0149 a0001c0001t0036g0164 |
2 | 356 | 0.0056 | 28 | c.241 others(45): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRSS16_chr6_27242701_27261620 | 27251585 | T | TTGGGGGC others(21): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 370 | 0.0027 | 28 | c.718 others(43): Show |
PRSS16 | ENSG00000112812.16 | transcript | ENST00000230582.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRSS41_chr16_2793470_2810304 | 2795137 | T | TATACACA others(21): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG02055.hp2 others(7): Show |
a0001a0008 | a0001c0001a0008c0021 | a0001c0001t0001a0008c0021t0001 | a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0063 others(1): Show |
10 | 426 | 0.0235 | 28 | c.-33 others(39): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3332 | chr16 | TogoVar | |||||||
PRSS41_chr16_2793470_2810304 | 2795141 | T | TACATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 426 | 0.0047 | 28 | c.-33 others(39): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3328 | chr16 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543411 | T | TTTCTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG03130.hp2 |
a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0053 a0005c0010t0001g0160 |
2 | 480 | 0.0042 | 28 | c.*46 others(39): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4593 | chr8 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543415 | T | TTTCTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0152 | 1 | 480 | 0.0021 | 28 | c.*46 others(39): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4597 | chr8 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543433 | T | TTCCTTCC others(21): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0016 | 1 | 480 | 0.0021 | 28 | c.*46 others(39): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4615 | chr8 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543463 | C | CCATCCTT others(21): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(5): Show |
a0002a0003 | a0002c0004a0003c0002 | a0002c0004t0001a0003c0002t0001 | a0002c0004t0001g0070 a0003c0002t0001g0002 a0003c0002t0001g0004 others(4): Show |
8 | 480 | 0.0167 | 28 | c.*46 others(39): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4645 | chr8 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543463 | C | CCTTCCAT others(21): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG02602.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 | 2 | 480 | 0.0042 | 28 | c.*46 others(39): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4645 | chr8 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543481 | T | TTTGCTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0006 | 2 | 480 | 0.0042 | 28 | c.*46 others(39): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4663 | chr8 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543481 | T | TTTTCTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01071.hp1 others(9): Show |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0001a0004c0006t0001 | a0002c0003t0001g0133 a0004c0006t0001g0006 a0004c0006t0001g0011 |
12 | 480 | 0.0250 | 28 | c.*46 others(39): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4663 | chr8 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24880813 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 | 1 | 338 | 0.0030 | 28 | c.340 others(45): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24880814 | T | TCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 338 | 0.0030 | 28 | c.340 others(45): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55612696 | C | CCATATAT others(21): Show |
3_prime_UTR_variant | MODIFIER | NA20129.hp1 | a0017 | a0017c0015 | a0017c0015t0079 | a0017c0015t0079g0234 | 1 | 284 | 0.0035 | 28 | c.*73 others(39): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 20/20 | 7315 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55738071 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG01168.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0023 | a0001c0001t0002a0001c0001t0004a0009c0023t0123 | a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0251 others(2): Show |
5 | 284 | 0.0176 | 28 | c.397 others(45): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 2/19 | chr15 | TogoVar | |||||||
PRUNE1_chr1_151003449_151040713 | 151006658 | G | GGGGGGTT others(21): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0097 | 1 | 408 | 0.0025 | 28 | c.-19 others(39): Show |
PRUNE1 | ENSG00000143363.17 | transcript | ENST00000271620.8 | protein_coding | 1790 | chr1 | TogoVar | |||||||
PRXL2A_chr10_80403551_80442115 | 80406757 | C | CATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0155 | 1 | 300 | 0.0033 | 28 | c.-18 others(39): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1793 | chr10 | TogoVar | |||||||
PSD2_chr5_139790808_139849466 | 139830521 | T | TCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 276 | 0.0036 | 28 | c.127 others(47): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830565 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0021 | 1 | 276 | 0.0036 | 28 | c.127 others(47): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830565 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 276 | 0.0036 | 28 | c.127 others(47): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830626 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01175.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0047 a0001c0001t0002g0053 a0001c0001t0002g0106 others(4): Show |
7 | 276 | 0.0254 | 28 | c.127 others(47): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18594139 | T | TATATTAT others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0218 | 1 | 228 | 0.0044 | 28 | c.248 others(47): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18759078 | T | TCACACAC others(21): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0005 | a0004c0005t0079 | a0004c0005t0079g0216 | 1 | 228 | 0.0044 | 28 | c.217 others(47): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18759092 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0129 | 1 | 228 | 0.0044 | 28 | c.217 others(47): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18949244 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0220 | 1 | 228 | 0.0044 | 28 | c.22- others(45): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18949244 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0084 | 1 | 228 | 0.0044 | 28 | c.22- others(45): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar |