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 | 125063187 | G | A | upstream_gene_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | c.-23 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2248 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063201 | C | T | upstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 364 | 0.0028 | 0 | c.-23 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2234 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063222 | T | C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG03579.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0005c0014t0001 | a0001c0001t0001g0003a0001c0001t0001g0257a0005c0014t0001g0339 | 4 | 364 | 0.0110 | 0 | c.-23 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2213 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063227 | C | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0029a0001c0001t0001g0100a0001c0001t0001g0109others(111): Show | 115 | 364 | 0.3159 | 0 | c.-23 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2208 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063228 | G | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG03579.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0005c0014t0001 | a0001c0001t0001g0003a0001c0001t0001g0257a0005c0014t0001g0339 | 4 | 364 | 0.0110 | 0 | c.-23 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2207 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063273 | G | C | upstream_gene_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0123 | 1 | 364 | 0.0028 | 0 | c.-23 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2162 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063368 | T | A | upstream_gene_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114 | 1 | 364 | 0.0028 | 0 | c.-22 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2067 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063496 | C | A | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 364 | 0.0028 | 0 | c.-20 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1939 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063556 | G | A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013 | 3 | 364 | 0.0082 | 0 | c.-20 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1879 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063557 | C | T | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG02723.hp1 others(3): Show |
a0002a0009 | a0002c0002a0009c0024 | a0002c0002t0001a0009c0024t0001 | a0002c0002t0001g0004a0002c0002t0001g0264a0002c0002t0001g0265others(2): Show | 6 | 364 | 0.0165 | 0 | c.-20 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1878 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063686 | C | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(282): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(277): Show | 285 | 364 | 0.7830 | 0 | c.-18 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1749 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063700 | T | C | upstream_gene_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.-18 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1735 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125063961 | G | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp1 others(9): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0024 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0277a0001c0001t0001g0278a0001c0001t0006g0197others(8): Show | 12 | 364 | 0.0330 | 0 | c.-16 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1474 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064238 | G | A | upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 364 | 0.0028 | 0 | c.-13 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1197 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064260 | T | C | upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 364 | 0.0028 | 0 | c.-13 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1175 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064392 | C | T | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG03098.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0008others(2): Show | 5 | 364 | 0.0137 | 0 | c.-11 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1043 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064414 | G | C | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 364 | 0.0028 | 0 | c.-11 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1021 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064438 | C | G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013 | 3 | 364 | 0.0082 | 0 | c.-11 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 997 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064438 | C | T | upstream_gene_variant | MODIFIER | HG02257.hp2 HG03516.hp1 NA19240.hp2 |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0001a0007c0016t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0007c0016t0001g0032 | 3 | 364 | 0.0082 | 0 | c.-11 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 997 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064480 | C | A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02083.hp1 HG02155.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0004 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0003t0001g0210others(5): Show | 8 | 364 | 0.0220 | 0 | c.-11 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 955 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064519 | G | A | upstream_gene_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.-10 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 916 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064553 | G | A | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01884.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0265a0002c0002t0001g0266 | 2 | 364 | 0.0055 | 0 | c.-10 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 882 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064677 | C | A | upstream_gene_variant | MODIFIER | HG00621.hp1 NA18612.hp1 NA19011.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0009 | a0001c0001t0002g0218a0001c0003t0001g0214a0001c0003t0001g0217others(1): Show | 4 | 364 | 0.0110 | 0 | c.-90 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 758 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064749 | A | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02647.hp1 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0097a0001c0001t0005g0072a0001c0001t0005g0099others(4): Show | 7 | 364 | 0.0192 | 0 | c.-83 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 686 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064932 | T | C | upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0336 | 1 | 364 | 0.0028 | 0 | c.-65 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 503 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125065031 | A | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(344): Show | 352 | 364 | 0.9670 | 0 | c.-55 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 404 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125065072 | C | T | upstream_gene_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.-51 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 363 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125065124 | T | C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG03516.hp1 NA19240.hp2 |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0001a0007c0016t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0007c0016t0001g0032 | 3 | 364 | 0.0082 | 0 | c.-46 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 311 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125065308 | G | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(167): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0029others(164): Show | 170 | 364 | 0.4670 | 0 | c.-27 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 127 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125065324 | C | T | upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 364 | 0.0028 | 0 | c.-26 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 111 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125065410 | C | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(66): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0080a0001c0001t0001g0275others(65): Show | 69 | 364 | 0.1896 | 0 | c.-17 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 25 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125065473 | C | T | 5_prime_UTR_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0108 | 1 | 364 | 0.0028 | 0 | c.-11 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/18 | 112 | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125065500 | C | T | 5_prime_UTR_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0194 | 1 | 364 | 0.0028 | 0 | c.-85 others(3): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/18 | 85 | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125065521 | C | T | 5_prime_UTR_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0189 | 1 | 364 | 0.0028 | 0 | c.-64 others(3): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/18 | 64 | 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 | 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 |