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 | 125077987 | G | T | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0084 | 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 | 125077989 | C | 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 | 125078006 | G | A | 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 | 125078238 | C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(72): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(71): Show | 75 | 364 | 0.2060 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125078263 | G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(347): Show | 355 | 364 | 0.9753 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125078346 | C | T | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(51): Show |
a0002a0008a0010 | a0002c0002a0002c0006a0002c0026others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0102a0002c0002t0001g0111others(50): Show | 54 | 364 | 0.1484 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125078420 | T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(288): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(283): Show | 291 | 364 | 0.7995 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125078475 | T | G | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0018 | 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 | 125078592 | G | A | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 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 | 125078689 | 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 | 125078871 | C | T | 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.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125078885 | C | T | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0226 | 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 | 125079018 | 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 | 125079086 | G | T | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277a0001c0001t0001g0278 | 2 | 364 | 0.0055 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125079108 | C | T | 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.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125079391 | G | A | intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0268 | 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 | 125079408 | G | A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0321 | 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 | 125079589 | A | C | intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 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 | 125079608 | C | T | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 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 | 125079609 | G | A | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 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 | 125079614 | C | 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 | 125079678 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(288): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(283): Show | 291 | 364 | 0.7995 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125079692 | T | A | 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 | 125079693 | C | A | 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 | 125079731 | A | 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 | 125079789 | G | A | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 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 | 125079817 | C | T | 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 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125079874 | C | T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 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 | 125079999 | C | G | intron_variant | MODIFIER | NA18964.hp2 NA19067.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0327a0001c0001t0003g0320a0001c0001t0003g0330 | 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 | 125080102 | C | T | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277a0001c0001t0001g0278 | 2 | 364 | 0.0055 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125080181 | G | A | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277a0001c0001t0001g0278 | 2 | 364 | 0.0055 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125080201 | G | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(74): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(72): Show | 77 | 364 | 0.2115 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125080212 | G | A | 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 | 125080297 | 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 | 125080307 | C | T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 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 | 125080406 | C | T | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 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 | 125080494 | C | T | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG02055.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(2): Show | 5 | 364 | 0.0137 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125080760 | C | T | intron_variant | MODIFIER | HG02273.hp1 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0021 | a0001c0001t0003a0002c0021t0001 | a0001c0001t0003g0313a0002c0021t0001g0026 | 2 | 364 | 0.0055 | 0 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125080840 | C | G | 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.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125080840 | C | 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 | 125080852 | 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 | 125080865 | G | T | 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.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125080881 | 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 | 125080913 | C | 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 | 125081082 | T | C | intron_variant | MODIFIER | HG02145.hp1 HG03098.hp2 HG03486.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0008others(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 | 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 |