view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 125098453 | C | CT | intron_variant | MODIFIER | HG01978.hp1 HG02451.hp1 HG03139.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0005g0110 a0001c0003t0001g0260 others(3): Show |
6 | 361 | 0.0166 | 1 | c.571 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125101762 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(302): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 others(296): Show |
305 | 324 | 0.9414 | 1 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102068 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(123): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(119): Show |
126 | 321 | 0.3925 | 1 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102080 | C | CA | intron_variant | MODIFIER | HG01515.hp2 HG01928.hp2 HG01978.hp1 others(11): Show |
a0001a0005a0010 | a0001c0001a0001c0009a0005c0013others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0079 a0001c0001t0001g0338 a0001c0001t0001g0354 others(11): Show |
14 | 319 | 0.0439 | 1 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102932 | G | GA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02486.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0009others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0350 a0001c0001t0005g0051 others(7): Show |
10 | 362 | 0.0276 | 1 | c.686 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01109.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0078 others(37): Show |
40 | 56 | 0.7143 | 1 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108863 | C | CT | intron_variant | MODIFIER | HG01515.hp2 HG01928.hp2 HG01978.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0011a0002c0002t0001 | a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 others(5): Show |
8 | 196 | 0.0408 | 1 | c.915 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110024 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(137): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(133): Show |
140 | 361 | 0.3878 | 1 | c.915 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112678 | C | CA | intron_variant | MODIFIER | HG02257.hp1 HG03239.hp1 HG03239.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 others(3): Show |
6 | 176 | 0.0341 | 1 | c.916 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115260 | G | GT | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01192.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0029 others(29): Show |
32 | 352 | 0.0909 | 1 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117413 | C | CA | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01884.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(4): Show | a0001c0001t0001g0028 a0001c0001t0001g0091 a0001c0001t0001g0093 others(14): Show |
18 | 357 | 0.0504 | 1 | c.997 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117988 | G | GA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(138): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(134): Show |
141 | 361 | 0.3906 | 1 | c.997 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125122642 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(130): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(127): Show |
133 | 344 | 0.3866 | 1 | c.112 others(10): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125125957 | A | AT | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG03041.hp2 others(5): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0282 a0001c0001t0001g0302 a0001c0001t0005g0051 others(5): Show |
8 | 220 | 0.0364 | 1 | c.130 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125126579 | G | GT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(134): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(130): Show |
137 | 354 | 0.3870 | 1 | c.131 others(10): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125140609 | T | TA | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0093 others(16): Show |
20 | 356 | 0.0562 | 1 | c.188 others(10): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125147103 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(66): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0058 a0001c0001t0001g0059 others(64): Show |
69 | 229 | 0.3013 | 1 | c.*48 others(12): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3788 | chr12 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151730863 | C | CT | upstream_gene_variant | MODIFIER | HG02300.hp2 NA18941.hp1 NA18942.hp1 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0017 | a0002c0002t0001g0003 a0002c0002t0001g0108 a0002c0002t0017g0103 |
16 | 426 | 0.0376 | 1 | c.-31 others(12): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 3063 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151733279 | A | AT | upstream_gene_variant | MODIFIER | HG01074.hp1 HG02622.hp2 NA18982.hp1 others(1): Show |
a0002a0007 | a0002c0002a0007c0006 | a0002c0002t0001a0007c0006t0007 | a0002c0002t0001g0003 a0002c0002t0001g0106 a0007c0006t0007g0102 |
4 | 426 | 0.0094 | 1 | c.-75 others(10): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 647 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151735439 | T | TA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(52): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0036 a0001c0001t0003g0002 a0001c0001t0003g0012 others(21): Show |
55 | 426 | 0.1291 | 1 | c.138 others(9): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151746365 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(163): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0038 a0001c0001t0002g0001 a0001c0001t0002g0015 others(60): Show |
166 | 362 | 0.4586 | 1 | c.603 others(8): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151746905 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(163): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 others(59): Show |
166 | 403 | 0.4119 | 1 | c.603 others(9): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151749785 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01168.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0011 a0001c0001t0007g0072 a0001c0001t0007g0080 others(2): Show |
12 | 426 | 0.0282 | 1 | c.603 others(9): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151752133 | G | GC | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0023others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 others(33): Show |
97 | 426 | 0.2277 | 1 | c.604 others(18): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151753314 | G | GA | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0033 a0001c0001t0008g0076 a0001c0001t0008g0104 others(2): Show |
6 | 426 | 0.0141 | 1 | c.604 others(9): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151756330 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(89): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0012a0002c0002t0002others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 others(30): Show |
92 | 426 | 0.2160 | 1 | c.604 others(8): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151764616 | C | CA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00735.hp2 others(39): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0002 a0001c0001t0004g0006 a0001c0001t0004g0042 others(18): Show |
42 | 376 | 0.1117 | 1 | c.*70 others(12): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 3278 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151765335 | C | CA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0123 others(4): Show |
17 | 193 | 0.0881 | 1 | c.*77 others(12): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 3997 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151765683 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(96): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0097 a0001c0001t0003g0002 a0001c0001t0003g0007 others(41): Show |
99 | 289 | 0.3426 | 1 | c.*80 others(12): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4345 | chr3 | TogoVar | |||||||
AADACL3_chr1_12711110_12733760 | 12711515 | T | TC | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(162): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0012others(23): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0102 others(89): Show |
165 | 430 | 0.3837 | 1 | c.-46 others(12): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4594 | chr1 | TogoVar | |||||||
AADACL3_chr1_12711110_12733760 | 12718359 | C | CA | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG01516.hp2 others(46): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0012others(8): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0030others(14): Show | a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0041 others(27): Show |
49 | 320 | 0.1531 | 1 | c.169 others(9): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12722326 | G | GA | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00733.hp1 others(13): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0012a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0012t0025others(4): Show | a0001c0001t0001g0027 a0001c0001t0001g0103 a0001c0001t0001g0115 others(12): Show |
16 | 313 | 0.0511 | 1 | c.449 others(9): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12722682 | C | CT | intron_variant | MODIFIER | HG01070.hp1 HG01255.hp2 HG02055.hp2 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0004a0004c0007others(3): Show | a0001c0001t0001a0002c0004t0002a0004c0007t0004others(3): Show | a0001c0001t0001g0120 a0002c0004t0002g0072 a0004c0007t0004g0042 others(4): Show |
10 | 423 | 0.0236 | 1 | c.449 others(9): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723788 | A | AT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(114): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0003a0002c0018others(12): Show | a0001c0001t0001a0002c0003t0003a0002c0003t0005others(28): Show | a0001c0001t0001g0119 a0002c0003t0003g0004 a0002c0003t0003g0005 others(50): Show |
117 | 428 | 0.2734 | 1 | c.450 others(9): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12641380 | G | GT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01169.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 others(40): Show |
46 | 308 | 0.1494 | 1 | c.-31 others(12): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2704 | chr1 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12641692 | G | GT | upstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0143 a0001c0001t0001g0182 a0001c0001t0001g0205 others(13): Show |
19 | 273 | 0.0696 | 1 | c.-28 others(12): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2392 | chr1 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12642813 | C | CA | upstream_gene_variant | MODIFIER | HG01070.hp1 HG02738.hp1 HG02738.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0145 others(2): Show |
6 | 298 | 0.0201 | 1 | c.-17 others(12): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1271 | chr1 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12645450 | C | CT | intron_variant | MODIFIER | HG00323.hp2 HG01884.hp2 HG02280.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 others(18): Show |
21 | 308 | 0.0682 | 1 | c.168 others(8): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12645852 | G | GT | intron_variant | MODIFIER | HG01175.hp2 HG04199.hp2 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0251 others(1): Show |
4 | 308 | 0.0130 | 1 | c.168 others(9): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12647090 | A | AT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01071.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0097 others(20): Show |
25 | 278 | 0.0899 | 1 | c.168 others(9): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12648560 | G | GT | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00741.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0068 others(37): Show |
41 | 304 | 0.1349 | 1 | c.169 others(9): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12650532 | C | CT | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG02055.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0224 others(15): Show |
18 | 293 | 0.0614 | 1 | c.169 others(8): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12651828 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG02056.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0081 others(18): Show |
21 | 272 | 0.0772 | 1 | c.385 others(8): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12654860 | A | AG | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01884.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 others(19): Show |
22 | 308 | 0.0714 | 1 | c.385 others(9): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12657140 | C | CA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0001g0071 others(39): Show |
43 | 269 | 0.1599 | 1 | c.386 others(9): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658891 | T | TC | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0139 a0001c0001t0001g0190 a0001c0001t0002g0050 others(8): Show |
11 | 308 | 0.0357 | 1 | c.386 others(9): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12664376 | C | CT | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 others(4): Show |
7 | 307 | 0.0228 | 1 | c.450 others(9): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12670978 | G | GT | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0012 | a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 others(7): Show |
10 | 308 | 0.0325 | 1 | c.*42 others(12): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 3903 | chr1 | TogoVar | |||||||
AADAC_chr3_151809116_151833488 | 151813048 | A | AC | upstream_gene_variant | MODIFIER | HG01175.hp1 NA18985.hp1 NA18987.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0002g0003 a0001c0001t0002g0053 others(1): Show |
4 | 438 | 0.0091 | 1 | c.-11 others(12): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1067 | chr3 | TogoVar | |||||||
AADAC_chr3_151809116_151833488 | 151820516 | C | CT | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG02080.hp1 others(4): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0005 | a0002c0002t0001g0017 a0002c0002t0001g0096 a0002c0007t0005g0095 |
7 | 142 | 0.0493 | 1 | c.431 others(7): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |