regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AACS_chr12_125060435_125148316 | 125081117 | T | C | intron_variant | MODIFIER | HG02055.hp2 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013 | 3 | 364 | 0.0082 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081136 | G | T | intron_variant | MODIFIER | HG02055.hp2 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013 | 3 | 364 | 0.0082 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081141 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(111): Show | 115 | 364 | 0.3159 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081142 | G | A | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0277a0001c0001t0001g0278 | 3 | 364 | 0.0082 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081166 | A | G | intron_variant | MODIFIER | HG02055.hp2 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013 | 3 | 364 | 0.0082 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081228 | A | C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 364 | 0.0028 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081273 | C | T | intron_variant | MODIFIER | HG02257.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0005g0103others(1): Show | 4 | 364 | 0.0110 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081278 | A | G | intron_variant | MODIFIER | HG02257.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0005g0103others(1): Show | 4 | 364 | 0.0110 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081386 | G | A | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 364 | 0.0028 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081404 | A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(156): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(153): Show | 159 | 364 | 0.4368 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081512 | G | A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 364 | 0.0028 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081776 | G | T | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 364 | 0.0028 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081842 | C | A | intron_variant | MODIFIER | HG02055.hp2 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013 | 3 | 364 | 0.0082 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081845 | G | A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(80): Show | 85 | 364 | 0.2335 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081858 | C | CAAATAGG others(28): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 364 | 0.0028 | 35 | c.359 others(52): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125081879 | G | GT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG03098.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0227a0001c0001t0002g0183others(4): Show | 7 | 364 | 0.0192 | 1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125081915 | G | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(116): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(114): Show | 119 | 364 | 0.3269 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082171 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(340): Show | 348 | 364 | 0.9560 | -1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125082208 | G | C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0005a0002c0006others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0006others(80): Show | 85 | 364 | 0.2335 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082342 | AT | A | intron_variant | MODIFIER | HG02040.hp1 HG03490.hp1 HG03540.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0097a0001c0001t0001g0190a0001c0001t0002g0037others(2): Show | 6 | 364 | 0.0165 | -1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125082357 | T | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(60): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0029a0001c0001t0001g0100a0001c0001t0001g0169others(59): Show | 63 | 364 | 0.1731 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082395 | C | T | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01884.hp1 others(22): Show |
a0002a0009 | a0002c0002a0002c0005a0002c0007others(4): Show | a0002c0002t0001a0002c0002t0005a0002c0005t0001others(5): Show | a0002c0002t0001g0004a0002c0002t0001g0036a0002c0002t0001g0094others(21): Show | 25 | 364 | 0.0687 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082429 | G | C | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277a0001c0001t0001g0278 | 2 | 364 | 0.0055 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082513 | G | A | intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0339 | 1 | 364 | 0.0028 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082566 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | -1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082637 | A | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(59): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0029a0001c0001t0001g0100a0001c0001t0001g0169others(58): Show | 62 | 364 | 0.1703 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082691 | G | A | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 364 | 0.0028 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082830 | C | G | intron_variant | MODIFIER | HG03491.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228a0001c0001t0001g0335 | 2 | 364 | 0.0055 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082832 | G | GAC | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0001c0001t0005a0002c0025t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0005g0103others(2): Show | 5 | 364 | 0.0137 | 2 | c.359 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125083023 | A | G | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(83): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0002a0002c0005others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(15): Show | a0001c0001t0001g0337a0002c0002t0001g0001a0002c0002t0001g0004others(81): Show | 86 | 364 | 0.2363 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125083207 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(199): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(196): Show | 202 | 364 | 0.5550 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125083232 | C | T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 364 | 0.0028 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125083243 | G | C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(84): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0002a0002c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(16): Show | a0001c0001t0001g0337a0001c0001t0002g0321a0002c0002t0001g0001others(82): Show | 87 | 364 | 0.2390 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125083333 | A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(281): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(276): Show | 284 | 364 | 0.7802 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125083425 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(68): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0275a0001c0001t0001g0281others(67): Show | 71 | 364 | 0.1951 | 1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125083432 | G | A | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0358a0001c0003t0001g0354a0001c0003t0001g0355 | 3 | 364 | 0.0082 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125083577 | G | C | intron_variant | MODIFIER | HG00140.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0063a0001c0001t0006g0064 | 2 | 364 | 0.0055 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125083615 | A | T | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 364 | 0.0028 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125083821 | G | A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 364 | 0.0055 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125083950 | G | A | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0344 | 1 | 364 | 0.0028 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084099 | C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084100 | A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084183 | G | A | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0273a0002c0002t0001g0274 | 2 | 364 | 0.0055 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084249 | C | T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060 | 1 | 364 | 0.0028 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084317 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(75): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(74): Show | 78 | 364 | 0.2143 | 1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125084395 | C | T | intron_variant | MODIFIER | HG00741.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0084a0001c0001t0006g0160 | 2 | 364 | 0.0055 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084442 | T | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(115): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(114): Show | 118 | 364 | 0.3242 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084578 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(151): Show | 157 | 364 | 0.4313 | -1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125084594 | T | C | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0326 | 1 | 364 | 0.0028 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084684 | T | C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 364 | 0.0028 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar |