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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A4GALT_chr22_42687121_42725870 | 42709344 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(8): Show | a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0243 others(40): Show |
44 | 282 | 0.1560 | 1 | c.-18 others(11): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42714274 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(74): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(10): Show | a0001c0001t0002g0009 a0001c0001t0002g0098 a0001c0001t0002g0107 others(71): Show |
77 | 200 | 0.3850 | 1 | c.-18 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42714745 | G | GA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00733.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(7): Show | a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0243 others(23): Show |
26 | 404 | 0.0644 | 1 | c.-18 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42715044 | T | TG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00642.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(6): Show | a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 others(30): Show |
33 | 404 | 0.0817 | 1 | c.-18 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42718591 | C | CA | intron_variant | MODIFIER | HG00738.hp2 HG02630.hp2 HG02896.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0004a0001c0002t0005a0001c0009t0013others(1): Show | a0001c0001t0004g0380 a0001c0002t0005g0217 a0001c0009t0013g0383 others(6): Show |
9 | 404 | 0.0223 | 1 | c.-18 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42721119 | T | TC | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01952.hp2 HG03669.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0170 a0001c0001t0002g0198 others(5): Show |
9 | 404 | 0.0223 | 1 | c.-51 others(5): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 250 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42721369 | A | AG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(302): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(31): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(295): Show |
305 | 404 | 0.7550 | 1 | c.-76 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 500 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722157 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0002t0005a0001c0002t0011others(7): Show | a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0002t0005g0367 others(24): Show |
28 | 89 | 0.3146 | 1 | c.-15 others(12): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722223 | A | AT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00639.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(3): Show | a0001c0001t0002g0306 a0001c0001t0002g0321 a0001c0001t0002g0350 others(25): Show |
28 | 91 | 0.3077 | 1 | c.-16 others(12): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42723579 | C | CA | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01981.hp2 HG03831.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0005others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0183 a0001c0001t0002g0318 others(4): Show |
7 | 402 | 0.0174 | 1 | c.-29 others(12): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2710 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42724719 | C | CT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(207): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(27): Show | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0191 others(203): Show |
210 | 222 | 0.9459 | 1 | c.-41 others(12): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3850 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42725198 | A | AT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(260): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(256): Show |
263 | 386 | 0.6813 | 1 | c.-45 others(12): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 4329 | chr22 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138122883 | A | AT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(204): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(126): Show |
207 | 374 | 0.5535 | 1 | c.*13 others(12): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 829 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138127118 | C | CA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(72): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0001g0038 a0001c0001t0001g0105 a0001c0001t0001g0106 others(45): Show |
75 | 381 | 0.1969 | 1 | c.409 others(9): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138127573 | C | CA | intron_variant | MODIFIER | HG00597.hp2 HG02074.hp2 HG02080.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0003t0003others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0179 a0001c0001t0001g0180 others(14): Show |
18 | 395 | 0.0456 | 1 | c.409 others(9): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138133991 | G | GT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01358.hp1 HG02109.hp2 others(8): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0006 | a0001c0003t0006a0002c0002t0002a0002c0002t0005others(2): Show | a0001c0003t0006g0024 a0002c0002t0002g0027 a0002c0002t0005g0026 others(4): Show |
11 | 203 | 0.0542 | 1 | c.-18 others(12): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 1602 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138135199 | T | TA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00642.hp1 others(63): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0032 a0001c0001t0001g0108 a0001c0001t0001g0110 others(15): Show |
66 | 352 | 0.1875 | 1 | c.-30 others(12): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2810 | chr3 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53304187 | C | CT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0040 others(16): Show |
36 | 328 | 0.1098 | 1 | c.*33 others(6): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 3272 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53310558 | C | CA | intron_variant | MODIFIER | HG02027.hp2 HG02083.hp2 HG02135.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0053 others(5): Show |
15 | 319 | 0.0470 | 1 | c.690 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53312217 | C | CA | intron_variant | MODIFIER | HG02486.hp1 HG02896.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0111 a0001c0001t0001g0137 a0001c0005t0001g0166 others(4): Show |
7 | 328 | 0.0213 | 1 | c.689 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53312565 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(293): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(154): Show |
296 | 328 | 0.9024 | 1 | c.689 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53313611 | A | AT | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02135.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0007t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0063 others(13): Show |
20 | 300 | 0.0667 | 1 | c.689 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53316764 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(125): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(62): Show |
128 | 229 | 0.5590 | 1 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53317741 | C | CA | intron_variant | MODIFIER | HG02027.hp2 HG02083.hp2 HG02135.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0124 others(1): Show |
10 | 325 | 0.0308 | 1 | c.252 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53319802 | C | CA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0165 a0001c0002t0001g0164 a0002c0004t0001g0047 others(2): Show |
7 | 315 | 0.0222 | 1 | c.251 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125060683 | G | GA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(66): Show |
a0001a0009 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0080 a0001c0001t0001g0273 others(65): Show |
69 | 362 | 0.1906 | 1 | c.-49 others(12): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4751 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125062002 | A | AT | upstream_gene_variant | MODIFIER | HG02698.hp2 NA18612.hp2 NA18949.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0153 others(3): Show |
6 | 357 | 0.0168 | 1 | c.-35 others(12): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3432 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125064480 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(152): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0080 others(149): Show |
155 | 335 | 0.4627 | 1 | c.-11 others(12): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 954 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125064482 | A | AC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp1 others(9): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0024 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0006g0199 others(8): Show |
12 | 362 | 0.0331 | 1 | c.-11 others(12): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 952 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125064643 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(162): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(159): Show |
165 | 355 | 0.4648 | 1 | c.-94 others(10): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 791 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125064799 | T | TG | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(51): Show |
a0002a0003a0008 | a0002c0002a0002c0006a0002c0026others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(5): Show | a0002c0002t0001g0002 a0002c0002t0001g0102 a0002c0002t0001g0111 others(50): Show |
54 | 362 | 0.1492 | 1 | c.-78 others(10): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 635 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125066450 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(171): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0031 others(167): Show |
174 | 251 | 0.6932 | 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 | 125067542 | A | AT | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0004a0002c0002t0001 | a0001c0004t0004g0098 a0002c0002t0001g0008 a0002c0002t0001g0009 others(3): Show |
6 | 166 | 0.0361 | 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 | 125072157 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(79): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0249 a0001c0001t0001g0273 others(78): Show |
82 | 347 | 0.2363 | 1 | c.134 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125072919 | G | GT | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01975.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0004 | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0062 others(9): Show |
12 | 81 | 0.1481 | 1 | c.134 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125074660 | G | GT | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01258.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(43): Show |
47 | 353 | 0.1331 | 1 | c.237 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125074975 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(128): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0029 others(125): Show |
131 | 352 | 0.3722 | 1 | c.237 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125075595 | G | GT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0039 a0001c0001t0001g0240 a0001c0001t0001g0282 others(22): Show |
26 | 359 | 0.0724 | 1 | c.238 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125077074 | A | AT | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01168.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 others(14): Show |
17 | 242 | 0.0702 | 1 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125077509 | C | CA | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG02148.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0331 a0001c0001t0001g0349 others(11): Show |
14 | 356 | 0.0393 | 1 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125077717 | A | AT | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01081.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0159 a0001c0001t0001g0275 a0001c0001t0001g0276 others(13): Show |
16 | 359 | 0.0446 | 1 | c.358 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125078820 | C | CA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(65): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0070 others(63): Show |
68 | 159 | 0.4277 | 1 | c.358 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125080657 | C | CA | intron_variant | MODIFIER | HG02055.hp2 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 |
3 | 362 | 0.0083 | 1 | c.358 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125081879 | G | GT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG03098.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0240 a0001c0001t0002g0181 others(4): Show |
7 | 362 | 0.0193 | 1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125083425 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(68): Show |
a0001a0005a0009 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0273 a0001c0001t0001g0279 others(67): Show |
71 | 362 | 0.1961 | 1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084317 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(75): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 others(74): Show |
78 | 361 | 0.2161 | 1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125088224 | C | CT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0002g0003 others(11): Show |
15 | 327 | 0.0459 | 1 | c.472 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092725 | T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 others(335): Show |
344 | 362 | 0.9503 | 1 | c.570 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125097433 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(72): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0009a0001c0017others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0161 others(71): Show |
75 | 340 | 0.2206 | 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 | 125098405 | A | AG | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0070 a0001c0001t0001g0071 others(6): Show |
10 | 362 | 0.0276 | 1 | c.571 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar |