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 | 125102059 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(181): Show | 187 | 364 | 0.5137 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102068 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(124): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(122): Show | 127 | 364 | 0.3489 | 1 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125102068 | T | TTA | intron_variant | MODIFIER | HG01515.hp2 HG01928.hp2 HG01978.hp1 others(14): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0077a0001c0001t0001g0079a0001c0001t0001g0340others(14): Show | 17 | 364 | 0.0467 | 2 | c.571 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102068 | T | TTAA | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG02809.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0014others(1): Show | a0001c0001t0005a0002c0002t0001a0005c0014t0001others(1): Show | a0001c0001t0005g0104a0002c0002t0001g0004a0002c0002t0001g0264others(2): Show | 6 | 364 | 0.0165 | 3 | c.571 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102068 | T | TTAAA | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG01884.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0097a0001c0001t0001g0159a0002c0002t0001g0011others(6): Show | 9 | 364 | 0.0247 | 4 | c.571 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102068 | T | TTTA | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 HG03486.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0005g0048others(1): Show | 4 | 364 | 0.0110 | 3 | c.571 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102069 | A | T | intron_variant | MODIFIER | NA18964.hp2 NA19067.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0327a0001c0001t0003g0320a0001c0001t0003g0330 | 3 | 364 | 0.0082 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102079 | A | AAC | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(11): Show | 14 | 364 | 0.0385 | 2 | c.571 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102080 | C | A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(40): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(39): Show | 43 | 364 | 0.1181 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102080 | C | CA | intron_variant | MODIFIER | HG01515.hp2 HG01928.hp2 HG01978.hp1 others(11): Show |
a0001a0006a0007 | a0001c0001a0001c0009a0006c0013others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0077a0001c0001t0001g0340a0001c0001t0001g0356others(11): Show | 14 | 364 | 0.0385 | 1 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125102091 | C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(181): Show | 187 | 364 | 0.5137 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102105 | G | A | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 364 | 0.0028 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102325 | C | T | intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0142 | 1 | 364 | 0.0028 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102342 | G | A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0038others(18): Show | 22 | 364 | 0.0604 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102345 | C | T | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102431 | G | A | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0273a0002c0002t0001g0274 | 2 | 364 | 0.0055 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102479 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(158): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(156): Show | 161 | 364 | 0.4423 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102495 | C | T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 364 | 0.0028 | 0 | c.571 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102932 | G | GA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02486.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0009others(1): Show | a0001c0001t0001g0079a0001c0001t0001g0352a0001c0001t0005g0060others(7): Show | 10 | 364 | 0.0275 | 1 | c.686 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103160 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(126): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(124): Show | 129 | 364 | 0.3544 | 0 | c.767 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103230 | A | G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0287a0001c0004t0001g0212a0001c0004t0001g0213others(19): Show | 22 | 364 | 0.0604 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103293 | A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(185): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(182): Show | 188 | 364 | 0.5165 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103441 | G | A | intron_variant | MODIFIER | HG02486.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0079a0002c0002t0001g0075 | 2 | 364 | 0.0055 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103448 | CACG | C | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01515.hp2 others(37): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(36): Show | 40 | 364 | 0.1099 | -3 | c.767 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103457 | G | GCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(181): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(178): Show | 184 | 364 | 0.5055 | 2 | c.767 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103537 | GTGTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0020others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0039a0001c0001t0001g0161a0001c0001t0001g0169others(83): Show | 87 | 364 | 0.2390 | -4 | c.767 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103648 | G | A | intron_variant | MODIFIER | HG03471.hp1 HG06807.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0017a0002c0007t0001g0027 | 2 | 364 | 0.0055 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103651 | G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(181): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(178): Show | 184 | 364 | 0.5055 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103784 | C | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0287a0001c0004t0001g0212a0001c0004t0001g0213others(19): Show | 22 | 364 | 0.0604 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103805 | G | A | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG02809.hp2 others(2): Show |
a0002a0005a0009 | a0002c0002a0005c0014a0009c0024 | a0002c0002t0001a0005c0014t0001a0009c0024t0001 | a0002c0002t0001g0004a0002c0002t0001g0264a0005c0014t0001g0339others(1): Show | 5 | 364 | 0.0137 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103814 | C | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0287a0001c0004t0001g0212a0001c0004t0001g0213others(19): Show | 22 | 364 | 0.0604 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103822 | A | C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(8): Show | 12 | 364 | 0.0330 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103826 | G | A | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(8): Show | 12 | 364 | 0.0330 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103845 | A | T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(8): Show | 12 | 364 | 0.0330 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103848 | T | C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(8): Show | 12 | 364 | 0.0330 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103856 | C | T | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp1 HG01928.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0288a0001c0001t0003g0290a0001c0001t0003g0292others(8): Show | 11 | 364 | 0.0302 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103861 | A | G | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(8): Show | 12 | 364 | 0.0330 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103891 | G | C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(8): Show | 12 | 364 | 0.0330 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103944 | C | T | intron_variant | MODIFIER | HG02486.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0079a0002c0002t0001g0075 | 2 | 364 | 0.0055 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01109.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0039a0001c0001t0001g0078a0001c0001t0001g0079others(37): Show | 40 | 364 | 0.1099 | 1 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0030a0001c0001t0001g0062a0001c0001t0001g0067others(41): Show | 44 | 364 | 0.1209 | 2 | c.767 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0020others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0038a0001c0001t0001g0049others(43): Show | 48 | 364 | 0.1319 | 3 | c.767 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00738.hp1 others(31): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0190a0001c0001t0001g0282others(31): Show | 34 | 364 | 0.0934 | 4 | c.767 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01109.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0065others(32): Show | 36 | 364 | 0.0989 | 5 | c.767 others(20): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00621.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0001c0003t0009others(4): Show | a0001c0001t0001g0061a0001c0001t0001g0090a0001c0001t0001g0284others(23): Show | 26 | 364 | 0.0714 | 6 | c.767 others(21): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAAAAA | intron_variant | MODIFIER | HG02145.hp1 HG03669.hp1 NA18986.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0275a0001c0001t0001g0289a0001c0001t0001g0319others(5): Show | 8 | 364 | 0.0220 | 7 | c.767 others(22): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 364 | 0.0028 | 12 | c.767 others(27): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 364 | 0.0028 | 13 | c.767 others(28): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 364 | 0.0028 | 18 | c.767 others(33): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CA | C | intron_variant | MODIFIER | HG01981.hp2 HG02630.hp1 HG02723.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0003g0044a0001c0001t0003g0312a0001c0001t0003g0317others(6): Show | 10 | 364 | 0.0275 | -1 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |