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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAAS_chr12_53302460_53326610 | 53321059 | T | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | c.123 others(7): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53321084 | G | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0162a0001c0001t0001g0163others(12): Show | 23 | 330 | 0.0697 | 0 | c.123 others(7): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53321101 | A | G | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0051 | 2 | 330 | 0.0061 | 0 | c.123 others(7): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53321209 | C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | c.123 others(7): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53321217 | C | A | intron_variant | MODIFIER | NA18945.hp2 NA18963.hp1 NA19085.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0183others(1): Show | 4 | 330 | 0.0121 | 0 | c.123 others(7): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53321288 | AGTCCCCG others(21): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 NA18973.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0185a0001c0001t0001g0186others(1): Show | 5 | 330 | 0.0152 | -28 | c.123 others(41): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125065757 | C | A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(20): Show | 23 | 364 | 0.0632 | 0 | c.133 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125065898 | C | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0007others(3): Show | a0001c0001t0001a0002c0005t0001a0002c0007t0001others(3): Show | a0001c0001t0001g0028a0002c0005t0001g0015a0002c0005t0001g0019others(12): Show | 15 | 364 | 0.0412 | 0 | c.133 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066060 | G | A | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 364 | 0.0028 | 0 | c.133 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066138 | A | G | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0359 | 1 | 364 | 0.0028 | 0 | c.133 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066151 | C | G | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0356others(4): Show | 7 | 364 | 0.0192 | 0 | c.133 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066187 | G | A | intron_variant | MODIFIER | HG02257.hp2 HG03516.hp1 NA19240.hp2 |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0001a0007c0016t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0007c0016t0001g0032 | 3 | 364 | 0.0082 | 0 | c.133 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066450 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(172): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0031others(169): Show | 175 | 364 | 0.4808 | 1 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125066450 | A | ATT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(85): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(83): Show | 88 | 364 | 0.2418 | 2 | c.133 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125066450 | A | ATTT | intron_variant | MODIFIER | HG02055.hp2 HG02135.hp1 HG02572.hp2 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0343a0001c0001t0001g0345others(10): Show | 13 | 364 | 0.0357 | 3 | c.133 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125066450 | AT | A | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp1 HG02004.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(3): Show | 6 | 364 | 0.0165 | -1 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125066518 | C | T | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0342 | 1 | 364 | 0.0028 | 0 | c.133 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066637 | C | T | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0026 | 1 | 364 | 0.0028 | 0 | c.133 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066692 | G | A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 364 | 0.0028 | 0 | c.133 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066738 | G | A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 364 | 0.0028 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066793 | C | T | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG03098.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0008others(2): Show | 5 | 364 | 0.0137 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066969 | C | A | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 364 | 0.0028 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066999 | T | G | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0358a0001c0003t0001g0354a0001c0003t0001g0355 | 3 | 364 | 0.0082 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125067012 | A | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(109): Show | 114 | 364 | 0.3132 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125067214 | C | T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0262 | 1 | 364 | 0.0028 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125067282 | G | T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0099 | 1 | 364 | 0.0028 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125067542 | A | AT | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0004a0002c0002t0001 | a0001c0004t0004g0098a0002c0002t0001g0006a0002c0002t0001g0007others(3): Show | 6 | 364 | 0.0165 | 1 | c.133 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125067542 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(194): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(190): Show | 197 | 364 | 0.5412 | -1 | c.133 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125067634 | C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(73): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0097a0001c0001t0001g0275others(72): Show | 76 | 364 | 0.2088 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125067786 | G | A | intron_variant | MODIFIER | NA18967.hp1 | a0004 | a0004c0018 | a0004c0018t0003 | a0004c0018t0003g0280 | 1 | 364 | 0.0028 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125067834 | G | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(73): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0097a0001c0001t0001g0275others(72): Show | 76 | 364 | 0.2088 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125067842 | G | A | intron_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 364 | 0.0028 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125067995 | G | C | intron_variant | MODIFIER | HG02055.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013 | 2 | 364 | 0.0055 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068010 | G | T | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 364 | 0.0028 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068034 | C | T | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(52): Show |
a0002a0008a0010 | a0002c0002a0002c0006a0002c0026others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0102a0002c0002t0001g0111others(51): Show | 55 | 364 | 0.1511 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068128 | C | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(203): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(199): Show | 206 | 364 | 0.5659 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068319 | T | C | 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.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068342 | C | T | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG03579.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0005c0014t0001 | a0001c0001t0001g0003a0001c0001t0001g0257a0005c0014t0001g0339 | 4 | 364 | 0.0110 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068364 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(279): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(274): Show | 282 | 364 | 0.7747 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068369 | G | A | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 364 | 0.0028 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068407 | C | A | intron_variant | MODIFIER | HG00558.hp1 NA18955.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281a0001c0001t0001g0282a0001c0001t0001g0333 | 3 | 364 | 0.0082 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068425 | C | G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(7): Show |
a0002 | a0002c0005a0002c0010a0002c0011 | a0002c0005t0001a0002c0010t0001a0002c0011t0001 | a0002c0005t0001g0015a0002c0005t0001g0019a0002c0005t0001g0020others(7): Show | 10 | 364 | 0.0275 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068843 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(277): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(272): Show | 280 | 364 | 0.7692 | -1 | c.133 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125068900 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(140): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(137): Show | 143 | 364 | 0.3929 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068969 | A | G | intron_variant | MODIFIER | HG02922.hp2 HG03579.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 3 | 364 | 0.0082 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125068985 | ATGCAACA others(5): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 364 | 0.0028 | -12 | c.133 others(29): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125069052 | A | G | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(52): Show |
a0002a0008a0010 | a0002c0002a0002c0006a0002c0026others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0102a0002c0002t0001g0111others(51): Show | 55 | 364 | 0.1511 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125069092 | C | A | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0359 | 1 | 364 | 0.0028 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125069115 | A | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(7): Show |
a0002 | a0002c0005a0002c0010a0002c0011 | a0002c0005t0001a0002c0010t0001a0002c0011t0001 | a0002c0005t0001g0015a0002c0005t0001g0019a0002c0005t0001g0020others(7): Show | 10 | 364 | 0.0275 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125069117 | A | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(7): Show |
a0002 | a0002c0005a0002c0010a0002c0011 | a0002c0005t0001a0002c0010t0001a0002c0011t0001 | a0002c0005t0001g0015a0002c0005t0001g0019a0002c0005t0001g0020others(7): Show | 10 | 364 | 0.0275 | 0 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar |