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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
THBS3_chr1_155190588_155212897 | 155190862 | T | TCTCCGGG others(197): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 272 | 0.0037 | 204 | c.*49 others(215): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4725 | chr1 | TogoVar | |||||||
THBS3_chr1_155190588_155212897 | 155190864 | T | TCCGGGGC others(197): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 HG01361.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 |
4 | 207 | 0.0193 | 204 | c.*49 others(215): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4723 | chr1 | TogoVar | |||||||
THBS3_chr1_155190588_155212897 | 155190864 | T | TCCGGGGC others(197): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 204 | 0.0049 | 204 | c.*49 others(215): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4723 | chr1 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121748021 | G | GCTGGGGT others(197): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 270 | 0.0037 | 204 | c.189 others(219): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121748077 | T | TGGGAGGC others(197): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0206 | 1 | 301 | 0.0033 | 204 | c.189 others(219): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129698560 | A | AGGGAGGG others(197): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 67 | 0.0149 | 204 | c.968 others(221): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157310477 | T | TGCTCACC others(197): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 a0001c0001t0005g0166 |
2 | 342 | 0.0058 | 204 | c.327 others(221): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157310622 | A | AGCCTCAT others(197): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0322 a0001c0001t0003g0323 |
2 | 340 | 0.0059 | 204 | c.327 others(221): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311645 | T | TGCCCCAC others(197): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02523.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0010 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0003g0309 others(2): Show |
5 | 338 | 0.0148 | 204 | c.327 others(221): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312848 | C | CTAGCCTC others(197): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 342 | 0.0029 | 204 | c.327 others(221): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312849 | T | TAGCCTCA others(197): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02895.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(1): Show |
4 | 333 | 0.0120 | 204 | c.327 others(221): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM65_chr8_124301189_124377701 | 124302589 | A | ATATATAT others(197): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0054 | 1 | 340 | 0.0029 | 204 | c.*11 others(217): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 3599 | chr8 | TogoVar | |||||||
TMTC2_chr12_82681906_83139866 | 82997400 | A | ATATATAT others(197): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0016 | 1 | 68 | 0.0147 | 204 | c.207 others(225): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TRAF3IP1_chr2_238315518_238405897 | 238398194 | G | GCCCTGCA others(197): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02738.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0288 |
3 | 220 | 0.0136 | 204 | c.191 others(221): Show |
TRAF3IP1 | ENSG00000204104.12 | transcript | ENST00000373327.5 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAF3IP1_chr2_238315518_238405897 | 238398194 | G | GCCCTGCA others(197): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02615.hp1 HG04199.hp2 others(2): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0001 | a0001c0001t0001g0206 a0001c0001t0001g0223 a0001c0001t0001g0267 others(2): Show |
5 | 222 | 0.0225 | 204 | c.191 others(221): Show |
TRAF3IP1 | ENSG00000204104.12 | transcript | ENST00000373327.5 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAF3IP1_chr2_238315518_238405897 | 238398194 | G | GCCCTGCA others(197): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 218 | 0.0046 | 204 | c.191 others(221): Show |
TRAF3IP1 | ENSG00000204104.12 | transcript | ENST00000373327.5 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAF3IP1_chr2_238315518_238405897 | 238398194 | G | GCCCTGCA others(197): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01952.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0272 others(2): Show |
5 | 222 | 0.0225 | 204 | c.191 others(221): Show |
TRAF3IP1 | ENSG00000204104.12 | transcript | ENST00000373327.5 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAF3IP1_chr2_238315518_238405897 | 238398194 | G | GCCCTGCA others(197): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 218 | 0.0046 | 204 | c.191 others(221): Show |
TRAF3IP1 | ENSG00000204104.12 | transcript | ENST00000373327.5 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507587 | G | GTGTATAC others(197): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0191 a0001c0001t0002g0192 |
2 | 213 | 0.0094 | 204 | c.-23 others(221): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRANK1_chr3_36821819_36950054 | 36879825 | T | TATATAAA others(197): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0326 | 1 | 312 | 0.0032 | 204 | c.908 others(221): Show |
TRANK1 | ENSG00000168016.15 | transcript | ENST00000645898.2 | protein_coding | 8/23 | chr3 | TogoVar | |||||||
TRANK1_chr3_36821819_36950054 | 36879825 | T | TATATAAA others(197): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02965.hp1 HG03041.hp1 |
a0001 | a0001c0004a0001c0023 | a0001c0004t0003a0001c0023t0003 | a0001c0004t0003g0016 a0001c0004t0003g0018 a0001c0023t0003g0017 |
3 | 314 | 0.0096 | 204 | c.908 others(221): Show |
TRANK1 | ENSG00000168016.15 | transcript | ENST00000645898.2 | protein_coding | 8/23 | chr3 | TogoVar | |||||||
TRIM49D1_chr11_89906409_89927245 | 89909139 | A | ATATGAAA others(197): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG02004.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0046 others(3): Show |
6 | 181 | 0.0331 | 204 | c.*24 others(215): Show |
TRIM49D1 | ENSG00000223417.9 | transcript | ENST00000420869.3 | protein_coding | 2269 | chr11 | TogoVar | |||||||
TRIM49D2_chr11_89919064_89938063 | 89935371 | A | AAAAATAT others(197): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00621.hp1 others(26): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0020 others(7): Show |
29 | 252 | 0.1151 | 204 | c.*24 others(215): Show |
TRIM49D2 | ENSG00000233802.8 | transcript | ENST00000623787.3 | protein_coding | 2309 | chr11 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14347290 | C | CGGACCTG others(197): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0182 | 1 | 118 | 0.0085 | 204 | c.204 others(225): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142348476 | C | CAAGCTGG others(197): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02896.hp1 |
a0006 | a0006c0006 | a0006c0006t0001a0006c0006t0002 | a0006c0006t0001g0236 a0006c0006t0002g0237 |
2 | 210 | 0.0095 | 204 | c.89- others(219): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142348476 | C | CAAGCTGG others(197): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01496.hp2 HG02040.hp1 others(7): Show |
a0005a0006 | a0005c0009a0006c0006 | a0005c0009t0001a0005c0009t0002a0006c0006t0001others(1): Show | a0005c0009t0001g0233 a0005c0009t0002g0235 a0006c0006t0001g0159 others(7): Show |
10 | 218 | 0.0459 | 204 | c.89- others(219): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(197): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 10 | 0.1000 | 204 | c.*36 others(219): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBE2E3_chr2_180975605_181068425 | 181021554 | C | CCCTCCCT others(197): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 others(3): Show |
6 | 303 | 0.0198 | 204 | c.246 others(223): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBE3D_chr6_82887390_83070841 | 82934930 | A | ATATATAT others(197): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 95 | 0.0105 | 204 | c.114 others(225): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 9/9 | chr6 | TogoVar | |||||||
UGT1A10_chr2_233631448_233778300 | 233725316 | G | GGAGAGGG others(197): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 277 | 0.0036 | 204 | c.856 others(223): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
UGT1A3_chr2_233724042_233778300 | 233725316 | G | GGAGAGGG others(197): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0003 | 1 | 322 | 0.0031 | 204 | c.-38 others(215): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 3725 | chr2 | TogoVar | |||||||
UGT1A4_chr2_233713736_233778300 | 233725316 | G | GGAGAGGG others(197): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0003 | 1 | 303 | 0.0033 | 204 | c.867 others(221): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
UGT1A5_chr2_233707907_233778300 | 233725316 | G | GGAGAGGG others(197): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 301 | 0.0033 | 204 | c.867 others(223): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
UGT1A6_chr2_233687890_233778300 | 233725316 | G | GGAGAGGG others(197): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 303 | 0.0033 | 204 | c.861 others(223): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
UGT1A7_chr2_233676901_233778300 | 233725316 | G | GGAGAGGG others(197): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 292 | 0.0034 | 204 | c.856 others(223): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
UGT1A8_chr2_233612633_233778300 | 233725316 | G | GGAGAGGG others(197): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 265 | 0.0038 | 204 | c.856 others(223): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
UGT1A9_chr2_233666898_233778300 | 233725316 | G | GGAGAGGG others(197): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 292 | 0.0034 | 204 | c.856 others(223): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917102 | G | GTCGGGTT others(197): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0034 | 1 | 269 | 0.0037 | 204 | c.218 others(219): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTGGG others(197): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307 | 1 | 74 | 0.0135 | 204 | c.218 others(221): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(197): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0091 | 1 | 74 | 0.0135 | 204 | c.218 others(221): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(197): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 74 | 0.0135 | 204 | c.218 others(221): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6532792 | C | CCCTCCCT others(197): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0008 | 1 | 68 | 0.0147 | 204 | c.*95 others(213): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 825 | chrX | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844242 | G | GGGGAGGG others(197): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01516.hp1 HG01517.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 3 | 279 | 0.0108 | 204 | c.*22 others(213): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 100 | chrX | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842829 | T | TATAGATG others(197): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 334 | 0.0030 | 204 | c.53+ others(219): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CGATAGAT others(197): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 177 | 0.0056 | 204 | c.53+ others(219): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842868 | A | AGATAGAT others(197): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0221 |
3 | 303 | 0.0099 | 204 | c.53+ others(219): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895600 | C | CCCCCCCT others(197): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0012 | a0012c0031 | a0012c0031t0004 | a0012c0031t0004g0078 | 1 | 260 | 0.0038 | 204 | c.200 others(221): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895600 | C | CCCCCCCT others(197): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 260 | 0.0038 | 204 | c.200 others(221): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895600 | C | CCCCCCCT others(197): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0252 | 1 | 260 | 0.0038 | 204 | c.200 others(221): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895627 | T | TCCCCCCC others(197): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0178 | 1 | 269 | 0.0037 | 204 | c.200 others(221): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |