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 | 125084771 | C | T | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02145.hp1 others(10): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0007others(2): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0005others(3): Show | a0001c0003t0001g0354a0001c0003t0001g0355a0002c0002t0001g0006others(10): Show | 13 | 364 | 0.0357 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084801 | C | T | intron_variant | MODIFIER | HG02135.hp1 NA18992.hp1 NA19079.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0004 | a0001c0001t0002g0316a0001c0001t0002g0347a0001c0004t0004g0328 | 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 | 125084821 | A | T | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG03041.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0007others(1): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0005others(2): Show | a0001c0003t0001g0354a0001c0003t0001g0355a0002c0002t0001g0036others(4): Show | 7 | 364 | 0.0192 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085041 | A | G | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01891.hp1 others(7): Show |
a0002 | a0002c0005a0002c0011a0002c0025 | a0002c0005t0001a0002c0011t0001a0002c0025t0001 | a0002c0005t0001g0015a0002c0005t0001g0019a0002c0005t0001g0020others(7): Show | 10 | 364 | 0.0275 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085071 | C | T | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 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 | 125085127 | G | C | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 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 | 125085167 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(91): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0029a0001c0001t0001g0169a0001c0001t0001g0191others(90): Show | 94 | 364 | 0.2582 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085249 | T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(108): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0028others(106): Show | 111 | 364 | 0.3050 | 0 | c.359 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085307 | C | G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 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 | 125085393 | C | T | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02258.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0050a0001c0001t0001g0051others(10): Show | 14 | 364 | 0.0385 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085394 | G | A | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG02809.hp2 others(1): Show |
a0002a0005 | a0002c0002a0005c0014 | a0002c0002t0001a0005c0014t0001 | a0002c0002t0001g0004a0002c0002t0001g0264a0005c0014t0001g0339 | 4 | 364 | 0.0110 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085408 | G | A | intron_variant | MODIFIER | NA18941.hp1 NA18984.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0155a0001c0001t0002g0302others(2): Show | 5 | 364 | 0.0137 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085414 | C | G | intron_variant | MODIFIER | NA18941.hp1 NA18984.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0155a0001c0001t0002g0302others(2): Show | 5 | 364 | 0.0137 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085425 | G | A | intron_variant | MODIFIER | NA18941.hp1 NA18984.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0155a0001c0001t0002g0302others(2): Show | 5 | 364 | 0.0137 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085427 | C | G | intron_variant | MODIFIER | NA18941.hp1 NA18984.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0155a0001c0001t0002g0302others(2): Show | 5 | 364 | 0.0137 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085434 | A | G | intron_variant | MODIFIER | NA18941.hp1 NA18984.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0155a0001c0001t0002g0302others(2): Show | 5 | 364 | 0.0137 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085464 | C | T | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00733.hp2 others(53): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0061a0001c0001t0001g0065a0001c0001t0001g0100others(52): Show | 56 | 364 | 0.1539 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085474 | GTGGAACC others(33): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 364 | 0.0028 | -40 | c.359 others(55): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125085514 | A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(345): Show | 352 | 364 | 0.9670 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085523 | C | T | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 364 | 0.0028 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085549 | G | C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 364 | 0.0028 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085599 | A | G | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 364 | 0.0028 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085630 | T | C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00642.hp1 others(137): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0038others(135): Show | 140 | 364 | 0.3846 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085651 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(330): Show | 338 | 364 | 0.9286 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085681 | C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(346): Show | 353 | 364 | 0.9698 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085808 | G | A | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 364 | 0.0028 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085891 | C | T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 HG03704.hp2 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0112a0002c0002t0007g0113a0002c0002t0007g0146 | 3 | 364 | 0.0082 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125085892 | G | A | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01261.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0080others(27): Show | 30 | 364 | 0.0824 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125086086 | G | C | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03453.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0079a0001c0001t0001g0162a0001c0001t0001g0163others(3): Show | 6 | 364 | 0.0165 | 0 | c.359 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125086452 | T | C | intron_variant | MODIFIER | HG02486.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0079a0002c0002t0001g0075 | 2 | 364 | 0.0055 | 0 | c.472 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125086818 | A | G | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0038others(49): Show | 53 | 364 | 0.1456 | 0 | c.472 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087023 | C | T | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | c.472 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087147 | C | T | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 364 | 0.0028 | 0 | c.472 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087234 | G | T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0292 | 1 | 364 | 0.0028 | 0 | c.472 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087333 | C | A | intron_variant | MODIFIER | NA18944.hp2 NA19090.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117a0002c0002t0001g0118 | 2 | 364 | 0.0055 | 0 | c.472 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087333 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(62): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0020others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0161others(61): Show | 65 | 364 | 0.1786 | 0 | c.472 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087491 | C | T | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(1): Show | 4 | 364 | 0.0110 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087542 | C | T | intron_variant | MODIFIER | HG02165.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071a0001c0001t0002g0082 | 2 | 364 | 0.0055 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087576 | C | T | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(1): Show | 4 | 364 | 0.0110 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087630 | C | T | intron_variant | MODIFIER | HG02155.hp1 NA18942.hp2 NA19082.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0210a0001c0003t0001g0221a0001c0003t0001g0225others(1): Show | 4 | 364 | 0.0110 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087642 | G | C | intron_variant | MODIFIER | HG02486.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0079a0002c0002t0001g0075 | 2 | 364 | 0.0055 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087646 | G | A | intron_variant | MODIFIER | HG03471.hp1 HG03486.hp1 HG06807.hp1 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0008a0002c0007t0001g0017a0002c0007t0001g0027 | 3 | 364 | 0.0082 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087665 | G | A | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 364 | 0.0028 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087776 | G | A | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 364 | 0.0028 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087937 | G | A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 364 | 0.0055 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087974 | C | T | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03453.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0079a0001c0001t0001g0162a0001c0001t0001g0163others(3): Show | 6 | 364 | 0.0165 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125087991 | C | T | intron_variant | MODIFIER | HG02040.hp1 HG02129.hp1 HG02165.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037a0001c0001t0002g0040a0001c0001t0002g0042others(12): Show | 15 | 364 | 0.0412 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125088017 | A | T | intron_variant | MODIFIER | HG03471.hp1 HG03486.hp1 HG06807.hp1 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0008a0002c0007t0001g0017a0002c0007t0001g0027 | 3 | 364 | 0.0082 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125088217 | G | C | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 364 | 0.0028 | 0 | c.472 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125088224 | C | CT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(12): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0002g0002others(11): Show | 15 | 364 | 0.0412 | 1 | c.472 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |