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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSMD14_chr2_161303425_161416717 | 161327981 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 268 | 0.0037 | 22 | c.48+ others(37): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161357076 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01243.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 others(2): Show |
5 | 268 | 0.0187 | 22 | c.49- others(39): 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(15): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 a0001c0001t0002g0115 |
2 | 268 | 0.0075 | 22 | c.571 others(39): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTTT others(15): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01192.hp1 HG01517.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0175 a0001c0001t0001g0212 a0001c0001t0002g0016 others(14): Show |
17 | 268 | 0.0634 | 22 | c.571 others(39): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 a0001c0001t0002g0068 |
2 | 268 | 0.0075 | 22 | c.571 others(39): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD3_chr17_39975807_40002959 | 39992024 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01516.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0033 others(5): Show |
13 | 418 | 0.0311 | 22 | c.981 others(39): Show |
PSMD3 | ENSG00000108344.15 | transcript | ENST00000264639.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PSMD4_chr1_151249734_151272479 | 151251260 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 NA18978.hp2 NA19079.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(1): Show |
5 | 420 | 0.0119 | 22 | c.-35 others(33): Show |
PSMD4 | ENSG00000159352.16 | transcript | ENST00000368884.8 | protein_coding | 3473 | chr1 | TogoVar | |||||||
PSMD8_chr19_38369571_38388824 | 38380723 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18966.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0070 |
5 | 424 | 0.0118 | 22 | c.703 others(37): Show |
PSMD8 | ENSG00000099341.13 | transcript | ENST00000215071.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PSMD8_chr19_38369571_38388824 | 38380723 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 424 | 0.0024 | 22 | c.703 others(37): Show |
PSMD8 | ENSG00000099341.13 | transcript | ENST00000215071.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PSME1_chr14_24131194_24143962 | 24135105 | A | AACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01070.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0002 | a0001c0001t0001g0001 a0001c0002t0002g0004 a0001c0003t0002g0004 |
5 | 418 | 0.0120 | 22 | c.-11 others(33): Show |
PSME1 | ENSG00000092010.15 | transcript | ENST00000206451.11 | protein_coding | 1088 | chr14 | TogoVar | |||||||
PSME3_chr17_42828397_42848760 | 42848524 | A | AATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 264 | 0.0038 | 22 | c.*69 others(33): Show |
PSME3 | ENSG00000131467.12 | transcript | ENST00000590720.6 | protein_coding | 4765 | chr17 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53876716 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01928.hp1 HG02004.hp1 others(15): Show |
a0001a0004 | a0001c0005a0001c0009a0004c0008 | a0001c0005t0001a0001c0009t0001a0004c0008t0001 | a0001c0005t0001g0311 a0001c0005t0001g0319 a0001c0005t0001g0325 others(15): Show |
18 | 384 | 0.0469 | 22 | c.481 others(39): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 41/46 | chr2 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53933375 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0301 | 1 | 384 | 0.0026 | 22 | c.958 others(37): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 8/46 | chr2 | TogoVar | |||||||
PSMF1_chr20_1113602_1177246 | 1133555 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0148 | 1 | 326 | 0.0031 | 22 | c.366 others(39): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133555 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01169.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0005a0001c0003t0012others(1): Show | a0001c0003t0001g0167 a0001c0003t0005g0175 a0001c0003t0005g0184 others(2): Show |
5 | 326 | 0.0153 | 22 | c.366 others(39): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0116 a0001c0001t0006g0015 a0001c0001t0006g0192 |
4 | 326 | 0.0123 | 22 | c.366 others(39): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02735.hp1 HG04115.hp2 NA18991.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0058 a0001c0001t0001g0221 a0001c0001t0003g0057 others(2): Show |
5 | 326 | 0.0153 | 22 | c.366 others(39): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0068 | 1 | 326 | 0.0031 | 22 | c.366 others(39): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01081.hp2 HG01167.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0045others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0004g0002 others(6): Show |
14 | 326 | 0.0429 | 22 | c.366 others(39): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 NA18522.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(1): Show |
4 | 326 | 0.0123 | 22 | c.366 others(39): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03710.hp1 NA20752.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0094 a0001c0001t0001g0095 others(1): Show |
4 | 326 | 0.0123 | 22 | c.366 others(39): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSORS1C2_chr6_31132534_31144066 | 31140003 | A | AAAATTCC others(15): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 461 | 0.0022 | 22 | c.-97 others(31): Show |
PSORS1C2 | ENSG00000204538.4 | transcript | ENST00000259845.5 | protein_coding | 938 | chr6 | TogoVar | |||||||
PTBP2_chr1_96716784_96820049 | 96761346 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0254 | 1 | 364 | 0.0028 | 22 | c.116 others(39): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP2_chr1_96716784_96820049 | 96791826 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18991.hp2 NA19012.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0263 a0001c0002t0001g0353 |
2 | 364 | 0.0055 | 22 | c.904 others(39): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP2_chr1_96716784_96820049 | 96791826 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02015.hp2 NA18979.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0302 a0001c0002t0001g0329 a0001c0002t0001g0348 |
3 | 364 | 0.0082 | 22 | c.904 others(39): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP2_chr1_96716784_96820049 | 96791826 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0339 | 1 | 364 | 0.0028 | 22 | c.904 others(39): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP2_chr1_96716784_96820049 | 96799294 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18983.hp1 NA19003.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0277 a0001c0002t0001g0302 a0001c0002t0001g0303 |
3 | 364 | 0.0082 | 22 | c.905 others(39): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP3_chr9_112213435_112338619 | 112244289 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02109.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0307 a0001c0001t0002g0232 a0001c0001t0012g0336 |
3 | 342 | 0.0088 | 22 | c.802 others(39): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 7/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112320291 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0280 | 1 | 342 | 0.0029 | 22 | c.-52 others(41): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112320291 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03130.hp1 NA19004.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001 | a0001c0001t0001g0321 a0001c0001t0010g0279 a0001c0002t0001g0243 |
3 | 342 | 0.0088 | 22 | c.-52 others(41): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112320291 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 342 | 0.0029 | 22 | c.-52 others(41): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112320314 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01943.hp2 HG01952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0018 | a0001c0001t0001g0149 a0001c0001t0001g0252 a0001c0001t0001g0286 others(5): Show |
8 | 342 | 0.0234 | 22 | c.-52 others(41): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112320314 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0276 | 1 | 342 | 0.0029 | 22 | c.-52 others(41): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112320314 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 342 | 0.0029 | 22 | c.-52 others(41): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99440655 | C | CGCATATA others(15): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0059 | 1 | 380 | 0.0026 | 22 | c.-19 others(33): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1858 | chr7 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 NA18995.hp1 |
a0001a0006 | a0001c0002a0006c0016 | a0001c0002t0002a0006c0016t0001 | a0001c0002t0002g0182 a0006c0016t0001g0188 |
2 | 380 | 0.0053 | 22 | c.-20 others(33): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG02071.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0020 | a0001c0002t0002g0002 a0001c0002t0002g0037 a0001c0002t0002g0191 others(1): Show |
4 | 380 | 0.0105 | 22 | c.-20 others(33): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 HG02523.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 a0001c0002t0002g0009 a0001c0002t0002g0183 |
4 | 380 | 0.0105 | 22 | c.-20 others(33): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0174 | 1 | 380 | 0.0026 | 22 | c.-20 others(33): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | |||||||
PTCH1_chr9_95437980_95514266 | 95452328 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0036 | 1 | 284 | 0.0035 | 22 | c.344 others(41): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000331920.11 | protein_coding | 20/23 | chr9 | TogoVar | |||||||
PTCH1_chr9_95437980_95521971 | 95452328 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0170 | 1 | 278 | 0.0036 | 22 | c.344 others(41): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 20/23 | chr9 | TogoVar | |||||||
PTCH2_chr1_44816938_44848253 | 44830587 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01243.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 a0001c0002t0001g0218 |
2 | 370 | 0.0054 | 22 | c.813 others(37): Show |
PTCH2 | ENSG00000117425.14 | transcript | ENST00000372192.4 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
PTCHD1_chrX_23329849_23409374 | 23394409 | G | GACACACA others(15): Show |
3_prime_UTR_variant | MODIFIER | NA19075.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0059a0001c0001t0060 | a0001c0001t0059g0191 a0001c0001t0060g0238 |
2 | 297 | 0.0067 | 22 | c.*24 others(31): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 3/3 | 267 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PTCHD4_chr6_47851673_48116197 | 47882741 | G | GAGATATA others(15): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 182 | 0.0055 | 22 | c.899 others(39): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PTCHD4_chr6_47851673_48116197 | 47882741 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01256.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0056a0001c0001t0074 | a0001c0001t0025g0142 a0001c0001t0025g0147 a0001c0001t0056g0117 others(1): Show |
4 | 182 | 0.0220 | 22 | c.899 others(39): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PTDSS2_chr11_445279_496399 | 471749 | T | TGGCCTGG others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0007 | a0004c0007t0012 | a0004c0007t0012g0307 | 1 | 346 | 0.0029 | 22 | c.285 others(39): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 471967 | A | AGATGGCG others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00741.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0002c0003t0005a0002c0003t0006 | a0001c0001t0006g0189 a0001c0001t0006g0190 a0002c0003t0005g0017 others(10): Show |
15 | 346 | 0.0434 | 22 | c.285 others(39): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 490811 | C | CGTGTGTG others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0010 | a0001c0001t0010g0050 a0001c0002t0010g0208 |
2 | 346 | 0.0058 | 22 | c.*23 others(31): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 12/12 | 231 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 490811 | C | CGTGTGTG others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01106.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0172 a0002c0003t0008g0173 a0002c0003t0008g0174 others(1): Show |
4 | 346 | 0.0116 | 22 | c.*23 others(31): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 12/12 | 231 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTGER1_chr19_14467466_14480354 | 14472584 | C | CCTGGAGT others(15): Show |
frameshift_variant | HIGH | HG02165.hp1 | a0004 | a0004c0009 | a0004c0009t0007 | a0004c0009t0007g0027 | 1 | 408 | 0.0025 | 22 | c.118 others(31): Show |
p.His others(5): Show |
PTGER1 | ENSG00000160951.4 | transcript | ENST00000292513.4 | protein_coding | 3/3 | 1294/1413 | 1184/1209 | 395/402 | chr19 | TogoVar |