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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0101 | 1 | 119 | 0.0084 | 34 | c.75+ others(49): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 119 | 0.0084 | 34 | c.75+ others(49): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PROB1_chr5_139385592_139400104 | 139396668 | G | GCCCCCCC others(27): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 346 | 0.0029 | 34 | c.-15 others(45): Show |
PROB1 | ENSG00000228672.4 | transcript | ENST00000434752.4 | protein_coding | 1565 | chr5 | TogoVar | |||||||
PRODH_chr22_18907781_18941293 | 18911327 | G | GGCTCAGA others(27): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(385): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0006a0001c0009others(82): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(86): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(266): Show |
388 | 405 | 0.9580 | 34 | c.*18 others(45): Show |
PRODH | ENSG00000100033.17 | transcript | ENST00000357068.11 | protein_coding | 1453 | chr22 | TogoVar | |||||||
PROP1_chr5_177987235_178001242 | 177988883 | A | ATATATAT others(27): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02970.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0002c0003t0003 | a0001c0001t0010g0047 a0002c0003t0003g0024 |
2 | 364 | 0.0055 | 34 | c.*38 others(45): Show |
PROP1 | ENSG00000175325.2 | transcript | ENST00000308304.2 | protein_coding | 3351 | chr5 | TogoVar | |||||||
PROSER2_chr10_11818356_11877277 | 11842931 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG01993.hp1 HG01993.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0114 a0001c0001t0001g0115 |
3 | 8 | 0.3750 | 34 | c.-81 others(51): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRPF38B_chr1_108687310_108707928 | 108689608 | T | TAACATTA others(27): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 6 | 0.3333 | 34 | c.-29 others(45): Show |
PRPF38B | ENSG00000134186.12 | transcript | ENST00000370025.9 | protein_coding | 2701 | chr1 | TogoVar | |||||||
PRPF38B_chr1_108687310_108707928 | 108689976 | A | ATACAAAT others(27): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | 34 | c.-26 others(45): Show |
PRPF38B | ENSG00000134186.12 | transcript | ENST00000370025.9 | protein_coding | 2333 | chr1 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150345951 | T | TTGCCACT others(27): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0145 | 1 | 360 | 0.0028 | 34 | c.164 others(49): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0275 | 1 | 217 | 0.0046 | 34 | c.582 others(49): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPS1L1_chr7_18021770_18032846 | 18030627 | A | AATATATA others(27): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 386 | 0.0026 | 34 | c.-28 others(45): Show |
PRPS1L1 | ENSG00000229937.9 | transcript | ENST00000506618.5 | protein_coding | 2782 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
PRPS1L1_chr7_18021770_18032846 | 18030651 | T | TATATATA others(27): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 157 | 0.0127 | 34 | c.-28 others(45): 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(27): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 NA20129.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 2 | 157 | 0.0127 | 34 | c.-28 others(45): 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(27): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 NA18949.hp2 NA18977.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 160 | 0.0313 | 34 | c.-28 others(45): Show |
PRPS1L1 | ENSG00000229937.9 | transcript | ENST00000506618.5 | protein_coding | 2806 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
PRPSAP2_chr17_18853131_18936287 | 18892727 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 236 | 0.0042 | 34 | c.584 others(51): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRR27_chr4_70149237_70171609 | 70160443 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 25 | 0.0400 | 34 | c.649 others(51): Show |
PRR27 | ENSG00000187533.14 | transcript | ENST00000344526.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRR29_chr17_63993351_64009305 | 63995046 | G | GCAAGTCA others(27): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 | 1 | 404 | 0.0025 | 34 | c.-33 others(45): Show |
PRR29 | ENSG00000224383.8 | transcript | ENST00000412177.6 | protein_coding | 3304 | chr17 | TogoVar | |||||||
PRR36_chr19_7863719_7879390 | 7877955 | T | TATATATA others(27): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 NA18977.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001 a0001c0005t0001g0004 |
2 | 347 | 0.0058 | 34 | c.-36 others(45): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3566 | chr19 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36350980 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02145.hp1 NA20805.hp2 |
a0002a0003 | a0002c0005a0003c0006 | a0002c0005t0005a0003c0006t0001 | a0002c0005t0005g0032 a0003c0006t0001g0257 |
2 | 115 | 0.0174 | 34 | c.-12 others(55): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36350994 | A | ATTTATAT others(27): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0006 | a0006c0012 | a0006c0012t0002 | a0006c0012t0002g0141 | 1 | 270 | 0.0037 | 34 | c.-12 others(55): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRC1_chr5_127512640_127560085 | 127556000 | A | ACCTGCTA others(27): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 338 | 0.0030 | 34 | c.*40 others(45): Show |
PRRC1 | ENSG00000164244.21 | transcript | ENST00000296666.13 | protein_coding | 916 | chr5 | TogoVar | |||||||
PRRC2B_chr9_131389086_131505193 | 131420493 | C | CTTTCTTT others(27): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0078 | 1 | 92 | 0.0109 | 34 | c.-51 others(51): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171569575 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03579.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0006a0003c0002t0003 | a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0006g0180 others(1): Show |
4 | 68 | 0.0588 | 34 | c.665 others(53): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRG1_chrX_37344364_37462291 | 37376551 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01516.hp1 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0165 a0001c0001t0001g0184 |
3 | 6 | 0.5000 | 34 | c.-42 others(53): Show |
PRRG1 | ENSG00000130962.18 | transcript | ENST00000378628.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129684532 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 342 | 0.0029 | 34 | c.259 others(53): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55738071 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 39 | 0.0256 | 34 | c.397 others(51): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 2/19 | chr15 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76665352 | T | TCTGGGAC others(27): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0163 | 1 | 238 | 0.0042 | 34 | c.827 others(53): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 9/18 | chr9 | TogoVar | |||||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0299 | 1 | 156 | 0.0064 | 34 | c.870 others(51): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18752627 | A | ATATATAA others(27): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0034 | 1 | 226 | 0.0044 | 34 | c.217 others(55): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18759078 | T | TCACACAC others(27): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02148.hp1 HG02273.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0002c0003others(2): Show | a0001c0001t0001a0001c0017t0005a0002c0003t0018others(2): Show | a0001c0001t0001g0056 a0001c0017t0005g0029 a0002c0003t0018g0212 others(2): Show |
5 | 173 | 0.0289 | 34 | c.217 others(53): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18759092 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0008 | a0008c0034 | a0008c0034t0001 | a0008c0034t0001g0064 | 1 | 208 | 0.0048 | 34 | c.217 others(53): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18759092 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0025 | a0001c0001t0021a0001c0025t0023 | a0001c0001t0021g0136 a0001c0025t0023g0162 |
2 | 209 | 0.0096 | 34 | c.217 others(53): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18759092 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0007 | a0007c0018 | a0007c0018t0056 | a0007c0018t0056g0200 | 1 | 208 | 0.0048 | 34 | c.217 others(53): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18828067 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0026 | 1 | 156 | 0.0064 | 34 | c.163 others(55): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15501866 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0258 a0001c0001t0010g0253 |
2 | 264 | 0.0076 | 34 | c.149 others(51): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
PSMA3_chr14_58239843_58277004 | 58254333 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01069.hp2 others(31): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(18): Show |
34 | 216 | 0.1574 | 34 | c.228 others(51): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMC2_chr7_103342643_103374395 | 103364981 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 a0001c0001t0003g0099 |
2 | 366 | 0.0055 | 34 | c.756 others(49): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161357076 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 19 | 0.0526 | 34 | c.49- others(51): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTTT others(27): Show |
intron_variant | MODIFIER | NA18987.hp1 NA19043.hp1 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0166 a0001c0001t0002g0035 a0001c0001t0002g0090 |
3 | 37 | 0.0811 | 34 | c.571 others(51): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161389912 | T | TTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 249 | 0.0040 | 34 | c.571 others(51): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
PSMD4_chr1_151249734_151272479 | 151251260 | C | CAAAAAAA others(27): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 40 | 0.0250 | 34 | c.-35 others(45): Show |
PSMD4 | ENSG00000159352.16 | transcript | ENST00000368884.8 | protein_coding | 3473 | chr1 | TogoVar | |||||||
PSME3_chr17_42828397_42848760 | 42848524 | A | AATATATA others(27): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 2 | 233 | 0.0086 | 34 | c.*69 others(45): Show |
PSME3 | ENSG00000131467.12 | transcript | ENST00000590720.6 | protein_coding | 4765 | chr17 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53868497 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0172 | 1 | 382 | 0.0026 | 34 | c.526 others(51): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 44/46 | chr2 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53876716 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0324 | 1 | 70 | 0.0143 | 34 | c.481 others(51): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 41/46 | chr2 | TogoVar | |||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0005 | a0004c0005t0055 | a0004c0005t0055g0156 | 1 | 150 | 0.0067 | 34 | c.366 others(51): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMG4_chr6_3253947_3273049 | 3260291 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 81 | 0.0123 | 34 | c.174 others(51): Show |
PSMG4 | ENSG00000180822.12 | transcript | ENST00000438998.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTBP2_chr1_96716784_96820049 | 96799294 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18966.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0323 a0001c0002t0001g0336 |
2 | 98 | 0.0204 | 34 | c.905 others(51): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP3_chr9_112213435_112338619 | 112320291 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02280.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0037 | a0001c0001t0025g0325 a0001c0001t0037g0326 |
2 | 254 | 0.0079 | 34 | c.-52 others(53): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(27): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0014 | a0001c0014t0016 | a0001c0014t0016g0246 | 1 | 180 | 0.0056 | 34 | c.-20 others(45): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(27): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0217 | 1 | 180 | 0.0056 | 34 | c.-20 others(45): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar |