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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACR_chr22_50733204_50750339 | 50744819 | C | CT | frameshift_variant | HIGH | NA19075.hp1 | a0016 | a0016c0010 | a0016c0010t0001 | a0016c0010t0001g0054 | 1 | 464 | 0.0022 | 1 | c.881 others(4): Show |
p.Leu others(5): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 914/1430 | 882/1266 | 294/421 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
ACR_chr22_50733204_50750339 | 50744880 | A | AC | frameshift_variant | HIGH | HG03139.hp1 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0073 | 1 | 464 | 0.0022 | 1 | c.945 others(4): Show |
p.Phe others(5): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 978/1430 | 946/1266 | 316/421 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
ACR_chr22_50733204_50750339 | 50744931 | G | GC | frameshift_variant | HIGH | NA19001.hp2 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0015 | 1 | 464 | 0.0022 | 1 | c.995 others(4): Show |
p.Arg others(5): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 1028/1430 | 996/1266 | 332/421 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
ACR_chr22_50733204_50750339 | 50744976 | A | AC | frameshift_variant | HIGH | NA19075.hp1 | a0016 | a0016c0010 | a0016c0010t0001 | a0016c0010t0001g0054 | 1 | 464 | 0.0022 | 1 | c.104 others(5): Show |
p.Pro others(5): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 1073/1430 | 1041/1266 | 347/421 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
ACR_chr22_50733204_50750339 | 50745000 | A | AC | frameshift_variant | HIGH | HG01261.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0018 | 1 | 464 | 0.0022 | 1 | c.106 others(5): Show |
p.Pro others(5): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 1097/1430 | 1065/1266 | 355/421 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
ACR_chr22_50733204_50750339 | 50745024 | A | AC | frameshift_variant | HIGH | NA18993.hp1 | a0014 | a0014c0015 | a0014c0015t0001 | a0014c0015t0001g0002 | 1 | 464 | 0.0022 | 1 | c.108 others(5): Show |
p.Pro others(5): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 1121/1430 | 1089/1266 | 363/421 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
ACR_chr22_50733204_50750339 | 50745030 | A | AC | frameshift_variant | HIGH | NA18991.hp1 NA19000.hp1 NA19075.hp1 |
a0007a0016 | a0007c0007a0016c0010 | a0007c0007t0001a0016c0010t0001 | a0007c0007t0001g0004 a0007c0007t0001g0041 a0016c0010t0001g0054 |
3 | 464 | 0.0065 | 1 | c.109 others(5): Show |
p.Pro others(5): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 1127/1430 | 1095/1266 | 365/421 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
ACR_chr22_50733204_50750339 | 50745042 | A | AC | frameshift_variant | HIGH | NA19075.hp1 | a0016 | a0016c0010 | a0016c0010t0001 | a0016c0010t0001g0054 | 1 | 464 | 0.0022 | 1 | c.110 others(5): Show |
p.Pro others(5): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 1139/1430 | 1107/1266 | 369/421 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
ACR_chr22_50733204_50750339 | 50746433 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(164): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(59): Show |
167 | 464 | 0.3599 | 1 | c.*12 others(12): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 1095 | chr22 | TogoVar | |||||||
ACR_chr22_50733204_50750339 | 50748658 | C | CA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(42): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0009 | a0001c0001t0001a0002c0002t0001a0013c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(9): Show |
45 | 464 | 0.0970 | 1 | c.*34 others(12): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3320 | chr22 | TogoVar | |||||||
ACR_chr22_50733204_50750339 | 50748812 | A | AT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0020a0002c0002others(3): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(29): Show |
76 | 464 | 0.1638 | 1 | c.*36 others(12): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3474 | chr22 | TogoVar | |||||||
ACR_chr22_50733204_50750339 | 50748913 | A | AT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(78): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(20): Show |
81 | 464 | 0.1746 | 1 | c.*37 others(12): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3575 | chr22 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78162545 | G | GT | downstream_gene_variant | MODIFIER | HG01192.hp2 HG03098.hp1 HG03098.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0009 | a0001c0001t0001a0002c0003t0001a0002c0009t0001 | a0001c0001t0001g0036 a0001c0001t0001g0098 a0001c0001t0001g0111 others(6): Show |
9 | 350 | 0.0257 | 1 | c.*88 others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 4922 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78164304 | T | TC | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01169.hp2 HG01433.hp1 others(34): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0002c0005others(4): Show | a0001c0001t0001a0002c0003t0001a0002c0005t0005others(6): Show | a0001c0001t0001g0186 a0001c0001t0001g0295 a0002c0003t0001g0120 others(34): Show |
37 | 350 | 0.1057 | 1 | c.*71 others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 3163 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78164354 | A | AT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp2 others(60): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0030others(8): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 others(60): Show |
63 | 350 | 0.1800 | 1 | c.*70 others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 3113 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78165195 | C | CT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(186): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0012a0001c0006t0010others(28): Show | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0012g0002 others(182): Show |
189 | 350 | 0.5400 | 1 | c.*62 others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 2272 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78166888 | T | TC | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01891.hp1 others(17): Show |
a0002a0006 | a0002c0002a0002c0017a0006c0023 | a0002c0002t0004a0002c0017t0004a0006c0023t0004 | a0002c0002t0004g0037 a0002c0002t0004g0053 a0002c0002t0004g0054 others(17): Show |
20 | 350 | 0.0571 | 1 | c.*45 others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 579 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78168257 | T | TA | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01169.hp2 HG01433.hp1 others(25): Show |
a0001a0002a0007 | a0001c0006a0002c0005a0002c0007others(3): Show | a0001c0006t0010a0002c0005t0005a0002c0005t0034others(4): Show | a0001c0006t0010g0182 a0001c0006t0010g0271 a0001c0006t0010g0273 others(25): Show |
28 | 350 | 0.0800 | 1 | c.*31 others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 14/14 | 3186 | chr15 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78170360 | A | AT | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG03831.hp2 NA18944.hp1 others(8): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0002c0005others(1): Show | a0001c0001t0008a0002c0003t0008a0002c0005t0006others(1): Show | a0001c0001t0008g0192 a0001c0001t0008g0306 a0001c0001t0008g0333 others(8): Show |
11 | 350 | 0.0314 | 1 | c.*10 others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 14/14 | 1083 | chr15 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78173344 | C | CA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp1 others(184): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(19): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(181): Show |
187 | 350 | 0.5343 | 1 | c.208 others(9): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 13/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78178898 | C | CG | intron_variant | MODIFIER | HG02055.hp2 NA18965.hp1 NA18985.hp1 others(1): Show |
a0002a0009a0011 | a0002c0002a0002c0003a0009c0022others(1): Show | a0002c0002t0001a0002c0003t0001a0009c0022t0001others(1): Show | a0002c0002t0001g0223 a0002c0003t0001g0261 a0009c0022t0001g0105 others(1): Show |
4 | 350 | 0.0114 | 1 | c.148 others(8): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 10/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78181067 | G | GT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp1 others(131): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0005others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(20): Show | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0314 others(130): Show |
134 | 350 | 0.3829 | 1 | c.107 others(18): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 8/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78181489 | C | CT | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01243.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0071 a0001c0001t0001g0177 others(17): Show |
20 | 350 | 0.0571 | 1 | c.107 others(9): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 8/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78187369 | C | CA | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0182 a0001c0006t0010g0271 a0001c0006t0010g0273 others(1): Show |
4 | 350 | 0.0114 | 1 | c.664 others(9): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 5/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78190310 | A | AT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(346): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0008others(20): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(48): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(341): Show |
349 | 350 | 0.9971 | 1 | c.663 others(18): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 5/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78196900 | T | TA | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01081.hp1 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(6): Show | a0001c0001t0001a0001c0006t0010a0002c0002t0004others(8): Show | a0001c0001t0001g0215 a0001c0006t0010g0271 a0001c0006t0010g0273 others(38): Show |
41 | 350 | 0.1171 | 1 | c.233 others(9): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 2/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78197719 | T | TA | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02109.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0008a0002c0002t0001a0002c0002t0004others(4): Show | a0001c0001t0008g0306 a0002c0002t0001g0187 a0002c0002t0001g0221 others(17): Show |
20 | 350 | 0.0571 | 1 | c.233 others(9): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 2/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78199658 | C | CT | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
a0002a0003a0006 | a0002c0002a0002c0003a0002c0017others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0202 a0002c0002t0002g0087 a0002c0002t0004g0037 others(19): Show |
22 | 350 | 0.0629 | 1 | c.233 others(9): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 2/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78218778 | C | CT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02809.hp1 others(8): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0002c0002t0004a0002c0002t0024others(1): Show | a0002c0002t0001g0185 a0002c0002t0001g0324 a0002c0002t0001g0325 others(8): Show |
11 | 350 | 0.0314 | 1 | c.132 others(10): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78218809 | C | CT | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0006a0001c0021others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0020others(5): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0068 others(14): Show |
17 | 350 | 0.0486 | 1 | c.132 others(10): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78226609 | C | CA | intron_variant | MODIFIER | HG01261.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(3): Show | a0001c0001t0001g0156 a0001c0001t0001g0316 a0002c0002t0001g0223 others(4): Show |
7 | 350 | 0.0200 | 1 | c.131 others(9): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78227218 | C | CA | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01109.hp2 others(48): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0020others(11): Show | a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 others(47): Show |
51 | 350 | 0.1457 | 1 | c.131 others(9): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78231287 | A | AT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(158): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0021others(7): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(22): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 others(156): Show |
161 | 350 | 0.4600 | 1 | c.131 others(9): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78232687 | C | CT | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG01934.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0028others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0068 others(10): Show |
13 | 350 | 0.0371 | 1 | c.131 others(9): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78234478 | T | TC | frameshift_variant | HIGH | HG02896.hp2 | a0006 | a0006c0023 | a0006c0023t0004 | a0006c0023t0004g0345 | 1 | 350 | 0.0029 | 1 | c.23d others(3): Show |
p.Tyr others(3): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/14 | 87/6215 | 23/2175 | 8/724 | chr15 | TogoVar | |||
ACSBG1_chr15_78162468_78239565 | 78239407 | A | AT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(124): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(27): Show | a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0050 others(122): Show |
127 | 350 | 0.3629 | 1 | c.-49 others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 4843 | chr15 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6136107 | A | AT | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01981.hp2 others(13): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0011c0014others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(2): Show | a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 others(13): Show |
16 | 262 | 0.0611 | 1 | c.-32 others(8): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6137209 | T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(46): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0017a0002c0002others(2): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0038 others(46): Show |
49 | 262 | 0.1870 | 1 | c.-32 others(9): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6137211 | G | GC | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp2 NA18522.hp1 |
a0001a0004a0010 | a0001c0020a0004c0019a0010c0010 | a0001c0020t0001a0004c0019t0002a0010c0010t0002 | a0001c0020t0001g0051 a0004c0019t0002g0050 a0010c0010t0002g0052 |
3 | 262 | 0.0115 | 1 | c.-32 others(18): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | chr19 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6139092 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(137): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0024a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0024t0001others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(137): Show |
140 | 262 | 0.5344 | 1 | c.-31 others(9): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6139094 | T | TA | intron_variant | MODIFIER | HG01433.hp1 NA18973.hp2 NA18975.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001 a0003c0005t0001g0133 a0003c0005t0001g0241 others(3): Show |
7 | 262 | 0.0267 | 1 | c.-31 others(18): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | chr19 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6140224 | C | CA | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp2 HG02109.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0002others(2): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0002c0002t0001g0063 others(18): Show |
22 | 262 | 0.0840 | 1 | c.-31 others(9): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6140796 | C | CT | intron_variant | MODIFIER | HG00741.hp2 HG01433.hp1 HG01891.hp1 others(19): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0020a0003c0004others(4): Show | a0001c0001t0001a0001c0020t0001a0003c0004t0002others(4): Show | a0001c0001t0001g0053 a0001c0020t0001g0051 a0003c0004t0002g0006 others(18): Show |
22 | 262 | 0.0840 | 1 | c.-31 others(8): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6142752 | C | CA | intron_variant | MODIFIER | HG00558.hp2 HG02132.hp2 HG02602.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0002others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0192 others(3): Show |
6 | 262 | 0.0229 | 1 | c.67+ others(8): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6143383 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(112): Show |
a0001a0003a0014others(1): Show | a0001c0001a0001c0017a0001c0024others(3): Show | a0001c0001t0001a0001c0017t0001a0001c0024t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(112): Show |
115 | 262 | 0.4389 | 1 | c.67+ others(8): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6145429 | C | CA | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG02559.hp2 others(3): Show |
a0001a0011 | a0001c0001a0011c0014 | a0001c0001t0001a0011c0014t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0040 others(3): Show |
6 | 262 | 0.0229 | 1 | c.68- others(8): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6146798 | T | TA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03669.hp1 others(5): Show |
a0002a0003a0004 | a0002c0002a0003c0012a0004c0003 | a0002c0002t0001a0003c0012t0002a0004c0003t0001 | a0002c0002t0001g0042 a0003c0012t0002g0046 a0004c0003t0001g0043 others(5): Show |
8 | 262 | 0.0305 | 1 | c.68- others(7): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6148647 | G | GA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01074.hp1 others(9): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0012a0004c0003others(1): Show | a0002c0002t0001a0003c0012t0002a0004c0003t0001others(1): Show | a0002c0002t0001g0042 a0002c0002t0001g0107 a0003c0012t0002g0046 others(9): Show |
12 | 262 | 0.0458 | 1 | c.297 others(8): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6149504 | C | CT | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01175.hp2 others(19): Show |
a0002a0004a0006others(1): Show | a0002c0002a0004c0003a0006c0006others(1): Show | a0002c0002t0001a0004c0003t0002a0006c0006t0001others(1): Show | a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0022 others(19): Show |
22 | 262 | 0.0840 | 1 | c.297 others(9): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6150340 | C | CA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01069.hp1 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0020a0002c0002others(6): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0039 others(30): Show |
33 | 262 | 0.1260 | 1 | c.298 others(9): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |