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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD17C_chr15_80690310_80760621 | 80733960 | A | ATTAT | intron_variant | MODIFIER | HG02015.hp1 HG02080.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 |
3 | 26 | 0.1154 | 4 | c.591 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80739857 | G | GCTGT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(174): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(157): Show |
177 | 358 | 0.4944 | 4 | c.591 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127960529 | A | AAAAT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(61): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(16): Show | a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 others(61): Show |
64 | 341 | 0.1877 | 4 | c.-50 others(15): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4876 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127961820 | C | CAAAA | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(1): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(5): Show |
8 | 197 | 0.0406 | 4 | c.-38 others(15): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3585 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127993856 | C | CTGAT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0022a0001c0001t0025a0001c0001t0035others(30): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(84): Show |
87 | 342 | 0.2544 | 4 | c.278 others(21): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128008261 | C | CTTTT | intron_variant | MODIFIER | HG00621.hp2 NA18952.hp1 NA18978.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0014a0002c0002t0021others(2): Show | a0002c0002t0001g0276 a0002c0002t0001g0316 a0002c0002t0014g0309 others(3): Show |
6 | 140 | 0.0429 | 4 | c.279 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128028308 | A | AATCC | intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0263 a0001c0001t0025g0264 a0001c0001t0025g0265 |
3 | 342 | 0.0088 | 4 | c.802 others(19): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 10/12 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 128039144 | C | CATAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0023a0001c0001t0045others(1): Show | a0001c0001t0008g0013 a0001c0001t0008g0016 a0001c0001t0008g0020 others(16): Show |
19 | 58 | 0.3276 | 4 | c.*33 others(15): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3373 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD1_chr2_27118815_27135812 | 27119844 | C | CAATA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01167.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0105 |
18 | 398 | 0.0452 | 4 | c.-41 others(15): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 3970 | chr2 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATAT | intron_variant | MODIFIER | HG00280.hp1 HG02602.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(1): Show | a0001c0001t0001g0145 a0001c0001t0010g0137 a0001c0001t0014g0060 others(1): Show |
4 | 200 | 0.0200 | 4 | c.194 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127718 | T | TATAC | intron_variant | MODIFIER | HG02630.hp1 HG03139.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0039 | a0001c0001t0002g0040 a0001c0001t0004g0046 a0001c0001t0039g0079 |
3 | 227 | 0.0132 | 4 | c.194 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127722 | C | CATAT | intron_variant | MODIFIER | HG00280.hp1 HG02602.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014 | a0001c0001t0001g0145 a0001c0001t0004g0017 a0001c0001t0014g0060 |
3 | 90 | 0.0333 | 4 | c.194 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89133834 | A | ATTTT | intron_variant | MODIFIER | HG01891.hp2 HG03579.hp1 HG03831.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0040others(1): Show | a0001c0001t0001g0087 a0001c0001t0001g0176 a0001c0001t0001g0195 others(3): Show |
6 | 122 | 0.0492 | 4 | c.194 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89135144 | T | TTTTC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01081.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0029 a0001c0001t0001g0061 a0001c0001t0001g0157 others(22): Show |
25 | 232 | 0.1078 | 4 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89141132 | C | CTAAT | intron_variant | MODIFIER | HG02559.hp2 HG02735.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0021a0001c0001t0042 | a0001c0001t0010g0137 a0001c0001t0021g0104 a0001c0001t0021g0166 others(1): Show |
4 | 231 | 0.0173 | 4 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89146355 | C | CGTGT | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0107 a0001c0001t0001g0174 others(4): Show |
7 | 41 | 0.1707 | 4 | c.195 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89149214 | A | AACAC | intron_variant | MODIFIER | HG01109.hp1 HG01258.hp1 HG01884.hp1 others(18): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0102 others(18): Show |
21 | 104 | 0.2019 | 4 | c.195 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89170080 | C | CTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00738.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0032 others(28): Show |
31 | 35 | 0.8857 | 4 | c.539 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89181228 | C | CAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(79): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0022 others(79): Show |
82 | 125 | 0.6560 | 4 | c.723 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTCTC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0029 others(28): Show |
31 | 78 | 0.3974 | 4 | c.*97 others(15): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89206003 | A | AGGGG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01891.hp1 HG01928.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0222 others(6): Show |
9 | 106 | 0.0849 | 4 | c.*10 others(17): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3649 | chr15 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21661102 | T | TAAAA | intron_variant | MODIFIER | HG00280.hp1 HG02735.hp1 HG02738.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0066 others(4): Show |
7 | 107 | 0.0654 | 4 | c.669 others(21): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21670234 | G | GATGC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00741.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(1): Show |
4 | 302 | 0.0132 | 4 | c.556 others(21): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21680854 | G | GTGTA | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01884.hp2 others(33): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0117 a0001c0001t0002g0150 a0001c0001t0002g0166 others(33): Show |
36 | 302 | 0.1192 | 4 | c.555 others(21): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21689549 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(107): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 others(106): Show |
110 | 200 | 0.5500 | 4 | c.510 others(21): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD4_chr14_22593300_22617963 | 22600829 | G | GGTGT | intron_variant | MODIFIER | HG00558.hp1 HG01192.hp2 HG03017.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0150 a0001c0001t0001g0151 others(5): Show |
10 | 198 | 0.0505 | 4 | c.24- others(17): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22600831 | G | GGTGT | intron_variant | MODIFIER | HG00558.hp2 HG02040.hp2 HG02080.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0035 others(7): Show |
27 | 302 | 0.0894 | 4 | c.24- others(17): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43715085 | C | CTGTG | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01515.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0081 others(22): Show |
31 | 77 | 0.4026 | 4 | c.773 others(17): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58240731 | A | ATTTT | intron_variant | MODIFIER | HG00733.hp2 HG02027.hp2 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0017 others(13): Show |
17 | 48 | 0.3542 | 4 | c.-91 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58245827 | A | AAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(252): Show |
263 | 299 | 0.8796 | 4 | c.-90 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58256897 | G | GGTTT | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(4): Show |
7 | 300 | 0.0233 | 4 | c.119 others(19): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58264387 | G | GCACA | intron_variant | MODIFIER | HG01175.hp2 HG01496.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0262 a0001c0001t0004g0040 a0001c0001t0004g0042 |
3 | 56 | 0.0536 | 4 | c.120 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58288613 | C | CACTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(256): Show |
267 | 300 | 0.8900 | 4 | c.837 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17295090 | A | ATTTT | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG01361.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0274 a0001c0001t0002g0144 a0001c0001t0004g0027 others(20): Show |
24 | 159 | 0.1509 | 4 | c.762 others(19): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ABHD8_chr19_17287131_17308425 | 17301776 | T | TTGTG | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00639.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0002g0092 a0001c0001t0002g0094 others(59): Show |
77 | 202 | 0.3812 | 4 | c.-8- others(17): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26744374 | T | TTTTA | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0046 others(16): Show |
19 | 356 | 0.0534 | 4 | c.*41 others(15): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2221 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26746581 | A | AAGAT | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0272 |
3 | 356 | 0.0084 | 4 | c.*19 others(15): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 14 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26750662 | C | CAACT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 others(58): Show |
61 | 356 | 0.1713 | 4 | c.127 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 10/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761617 | C | CATAT | intron_variant | MODIFIER | HG00597.hp1 HG01975.hp1 HG01981.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0023 a0001c0001t0002g0146 a0001c0001t0002g0149 others(14): Show |
17 | 189 | 0.0899 | 4 | c.821 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TACAC | intron_variant | MODIFIER | HG02027.hp1 HG02622.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0236 others(3): Show |
6 | 224 | 0.0268 | 4 | c.821 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATAC | intron_variant | MODIFIER | HG01069.hp2 HG01358.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0109 a0001c0001t0001g0276 a0001c0001t0004g0087 others(1): Show |
4 | 222 | 0.0180 | 4 | c.821 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26816986 | T | TTGTG | intron_variant | MODIFIER | HG00642.hp2 HG01261.hp2 HG01981.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0062 a0001c0001t0001g0233 a0001c0001t0002g0201 others(17): Show |
20 | 34 | 0.5882 | 4 | c.285 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26833769 | T | TACAC | intron_variant | MODIFIER | HG02015.hp2 HG02109.hp2 HG02451.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 others(12): Show |
15 | 28 | 0.5357 | 4 | c.118 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26834548 | A | AACAC | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01069.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 others(22): Show |
25 | 86 | 0.2907 | 4 | c.118 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26839666 | A | AAAAT | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG02135.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0311 a0001c0001t0003g0001 a0001c0001t0003g0012 others(29): Show |
33 | 265 | 0.1245 | 4 | c.118 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26843453 | C | CAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01106.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0023 a0001c0001t0002g0168 a0001c0001t0002g0218 others(7): Show |
10 | 272 | 0.0368 | 4 | c.117 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26845810 | T | TAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(121): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 others(120): Show |
124 | 356 | 0.3483 | 4 | c.117 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26853234 | C | CAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG02135.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(4): Show |
7 | 102 | 0.0686 | 4 | c.117 others(21): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26865383 | T | TAAAA | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0110 a0001c0001t0001g0112 others(6): Show |
9 | 28 | 0.3214 | 4 | c.-45 others(15): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 4426 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203342552 | T | TTTTA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00621.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0214 others(56): Show |
59 | 198 | 0.2980 | 4 | c.117 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |