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 | 125142036 | C | T | intron_variant | MODIFIER | HG02109.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0068 | 2 | 364 | 0.0055 | 0 | c.188 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125142139 | C | T | synonymous_variant | LOW | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(40): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0012others(3): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0009others(6): Show | a0001c0003t0001g0053a0001c0003t0001g0168a0001c0003t0001g0210others(40): Show | 43 | 364 | 0.1181 | 0 | c.192 others(4): Show |
p.Ile others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | 2079/3256 | 1929/2019 | 643/672 | chr12 | TogoVar | ||
AACS_chr12_125060435_125148316 | 125142175 | G | A | synonymous_variant | LOW | HG01175.hp2 HG03139.hp1 HG03486.hp2 |
a0001a0002 | a0001c0015a0002c0010a0002c0025 | a0001c0015t0001a0002c0010t0001a0002c0025t0001 | a0001c0015t0001g0070a0002c0010t0001g0018a0002c0025t0001g0255 | 3 | 364 | 0.0082 | 0 | c.196 others(4): Show |
p.Ser others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | 2115/3256 | 1965/2019 | 655/672 | chr12 | TogoVar | ||
AACS_chr12_125060435_125148316 | 125142239 | G | C | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01123.hp1 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0018others(1): Show | a0001c0001t0003a0001c0001t0008a0002c0002t0003others(2): Show | a0001c0001t0003g0041a0001c0001t0003g0044a0001c0001t0003g0179others(22): Show | 25 | 364 | 0.0687 | 0 | c.*10 others(3): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | 10 | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125142507 | C | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0017others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0008t0002others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0037a0001c0001t0002g0040others(75): Show | 79 | 364 | 0.2170 | 0 | c.*27 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | 278 | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125142641 | C | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01515.hp2 HG01928.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0011a0002c0002t0005 | a0001c0001t0005g0048a0001c0001t0005g0060a0001c0001t0005g0063others(12): Show | 15 | 364 | 0.0412 | 0 | c.*41 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | 412 | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125142786 | A | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00741.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006 | a0001c0001t0006g0064a0001c0001t0006g0076a0001c0001t0006g0084others(9): Show | 12 | 364 | 0.0330 | 0 | c.*55 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | 557 | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125142788 | G | A | 3_prime_UTR_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0208 | 1 | 364 | 0.0028 | 0 | c.*55 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | 559 | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125143177 | C | A | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG02040.hp2 others(13): Show |
a0001 | a0001c0003a0001c0004a0001c0012 | a0001c0003t0004a0001c0004t0004a0001c0012t0004 | a0001c0003t0004g0083a0001c0004t0004g0098a0001c0004t0004g0167others(13): Show | 16 | 364 | 0.0440 | 0 | c.*94 others(4): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | 948 | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125143315 | C | T | splice_region_variant | LOW | HG03491.hp2 HG03492.hp2 HG03704.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0112a0002c0002t0007g0113a0002c0002t0007g0146others(1): Show | 4 | 364 | 0.0110 | 0 | c.*10 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 18/18 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143374 | C | T | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0194 | 1 | 364 | 0.0028 | 0 | c.*11 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 58 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143402 | C | T | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103a0001c0001t0005g0104 | 2 | 364 | 0.0055 | 0 | c.*11 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 86 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143486 | T | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01515.hp2 HG01928.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0011a0002c0002t0005 | a0001c0001t0005g0048a0001c0001t0005g0060a0001c0001t0005g0063others(12): Show | 15 | 364 | 0.0412 | 0 | c.*12 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 170 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143621 | T | C | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 364 | 0.0028 | 0 | c.*13 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 305 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143666 | G | A | downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 364 | 0.0028 | 0 | c.*14 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 350 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143681 | G | A | downstream_gene_variant | MODIFIER | HG02922.hp2 HG03471.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0162a0001c0001t0001g0163others(1): Show | 4 | 364 | 0.0110 | 0 | c.*14 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 365 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143713 | G | A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00639.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0009others(2): Show | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0109others(29): Show | 32 | 364 | 0.0879 | 0 | c.*14 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 397 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143722 | C | T | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(7): Show | 11 | 364 | 0.0302 | 0 | c.*14 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 406 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143836 | C | T | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0027 | 1 | 364 | 0.0028 | 0 | c.*16 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 520 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143842 | G | A | downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0254 | 1 | 364 | 0.0028 | 0 | c.*16 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 526 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143932 | A | T | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01123.hp1 others(22): Show |
a0001a0004a0008 | a0001c0001a0004c0018a0008c0023 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0175a0001c0001t0003g0041a0001c0001t0003g0044others(22): Show | 25 | 364 | 0.0687 | 0 | c.*17 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 616 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143950 | C | T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG02040.hp2 others(17): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0012others(2): Show | a0001c0003t0004a0001c0004t0001a0001c0004t0004others(3): Show | a0001c0003t0004g0083a0001c0004t0001g0212a0001c0004t0001g0213others(17): Show | 20 | 364 | 0.0550 | 0 | c.*17 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 634 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143986 | G | A | downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0221 | 1 | 364 | 0.0028 | 0 | c.*17 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 670 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144003 | G | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0081a0001c0001t0002g0205a0001c0001t0002g0206others(3): Show | 6 | 364 | 0.0165 | 0 | c.*17 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 687 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144046 | G | A | downstream_gene_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0005 | a0001c0001t0005g0060a0001c0001t0005g0072a0001c0001t0005g0099others(1): Show | 4 | 364 | 0.0110 | 0 | c.*18 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 730 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144052 | C | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(176): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0010a0001c0001t0001g0028a0001c0001t0001g0039others(175): Show | 179 | 364 | 0.4918 | 0 | c.*18 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 736 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144131 | C | T | downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 364 | 0.0028 | 0 | c.*19 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 815 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144319 | A | G | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 364 | 0.0028 | 0 | c.*20 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1003 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144329 | C | G | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0339 | 1 | 364 | 0.0028 | 0 | c.*21 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1013 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144539 | T | A | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 364 | 0.0028 | 0 | c.*23 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1223 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144557 | G | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(154): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(16): Show | a0001c0001t0001g0010a0001c0001t0001g0028a0001c0001t0001g0039others(153): Show | 157 | 364 | 0.4313 | 0 | c.*23 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1241 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144563 | T | C | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 364 | 0.0028 | 0 | c.*23 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1247 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144564 | G | A | downstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 364 | 0.0028 | 0 | c.*23 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1248 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125144896 | C | T | downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 364 | 0.0028 | 0 | c.*26 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1580 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145063 | T | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0081a0001c0001t0002g0205a0001c0001t0002g0206others(3): Show | 6 | 364 | 0.0165 | 0 | c.*28 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1747 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145112 | G | C | downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 364 | 0.0028 | 0 | c.*28 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1796 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145243 | C | T | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 364 | 0.0028 | 0 | c.*30 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1927 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145324 | G | A | downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0288 | 1 | 364 | 0.0028 | 0 | c.*30 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2008 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145335 | C | G | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0017 | 1 | 364 | 0.0028 | 0 | c.*31 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2019 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145358 | C | T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01361.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0097a0001c0001t0001g0162others(16): Show | 19 | 364 | 0.0522 | 0 | c.*31 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2042 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145359 | G | C | downstream_gene_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0122 | 1 | 364 | 0.0028 | 0 | c.*31 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2043 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145433 | G | A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00733.hp2 others(38): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0003t0004a0001c0004t0001others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0097a0001c0001t0001g0159others(38): Show | 41 | 364 | 0.1126 | 0 | c.*32 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2117 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145442 | C | T | downstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0238 | 1 | 364 | 0.0028 | 0 | c.*32 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2126 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145468 | C | G | downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 364 | 0.0028 | 0 | c.*32 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2152 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145548 | C | T | downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0173 | 1 | 364 | 0.0028 | 0 | c.*33 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2232 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145629 | T | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01515.hp2 HG01884.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0239a0001c0001t0001g0340a0001c0001t0005g0048others(24): Show | 27 | 364 | 0.0742 | 0 | c.*34 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2313 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145633 | T | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01515.hp2 HG01884.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0239a0001c0001t0001g0340a0001c0001t0005g0048others(24): Show | 27 | 364 | 0.0742 | 0 | c.*34 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2317 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145650 | C | T | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 364 | 0.0028 | 0 | c.*34 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2334 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145858 | G | A | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 364 | 0.0028 | 0 | c.*36 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2542 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125146023 | T | C | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 364 | 0.0028 | 0 | c.*37 others(5): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2707 | chr12 | TogoVar |