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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD1_chr2_27118815_27135812 | 27125137 | C | CA | intron_variant | MODIFIER | HG00738.hp1 HG02074.hp1 HG02132.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0051 a0001c0001t0001g0074 a0001c0001t0001g0076 others(9): Show |
15 | 390 | 0.0385 | 1 | c.114 others(9): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27126945 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(168): Show |
a0001a0007a0010others(1): Show | a0001c0001a0001c0005a0007c0008others(2): Show | a0001c0001t0001a0001c0005t0001a0007c0008t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(40): Show |
171 | 209 | 0.8182 | 1 | c.115 others(9): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27127236 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(88): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(27): Show |
91 | 319 | 0.2853 | 1 | c.115 others(9): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27127553 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(184): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(61): Show |
187 | 213 | 0.8779 | 1 | c.115 others(8): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27127567 | A | AG | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01106.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0021 others(8): Show |
21 | 398 | 0.0528 | 1 | c.115 others(16): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ABHD1_chr2_27118815_27135812 | 27131111 | T | TA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(98): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0006 a0002c0002t0001g0002 a0002c0002t0001g0003 others(38): Show |
101 | 398 | 0.2538 | 1 | c.*36 others(10): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 300 | chr2 | TogoVar | |||||||
ABHD1_chr2_27118815_27135812 | 27135138 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(86): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(27): Show |
89 | 392 | 0.2270 | 1 | c.*43 others(12): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 4327 | chr2 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89084209 | T | TA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01099.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0087 a0001c0001t0001g0148 a0001c0001t0001g0157 others(34): Show |
37 | 77 | 0.4805 | 1 | c.-44 others(12): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4246 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89086201 | A | AT | upstream_gene_variant | MODIFIER | HG00741.hp2 HG03491.hp1 HG03492.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(4): Show |
7 | 231 | 0.0303 | 1 | c.-24 others(12): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2254 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89093173 | C | CT | intron_variant | MODIFIER | HG02293.hp1 HG02970.hp2 HG03195.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0141 a0001c0001t0001g0215 a0001c0001t0001g0216 others(5): Show |
8 | 73 | 0.1096 | 1 | c.-10 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89095063 | C | CA | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG01884.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0019 others(40): Show |
43 | 215 | 0.2000 | 1 | c.-10 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89113664 | T | TA | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0022a0001c0002t0007 | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0022g0043 others(1): Show |
4 | 232 | 0.0172 | 1 | c.-10 others(8): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89118191 | C | CT | intron_variant | MODIFIER | HG01928.hp1 HG02129.hp2 NA19005.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0087 a0001c0001t0001g0127 a0001c0001t0005g0126 others(2): Show |
5 | 228 | 0.0219 | 1 | c.194 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89123593 | C | CT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG02027.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0027others(1): Show | a0001c0001t0001g0115 a0001c0001t0001g0141 a0001c0001t0001g0174 others(8): Show |
11 | 117 | 0.0940 | 1 | c.194 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89123596 | T | TC | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp1 HG03490.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0016a0001c0001t0019a0001c0001t0043others(1): Show | a0001c0001t0016g0146 a0001c0001t0019g0064 a0001c0001t0019g0065 others(2): Show |
5 | 232 | 0.0216 | 1 | c.194 others(18): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89125089 | C | CA | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01109.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0019 others(42): Show |
45 | 230 | 0.1957 | 1 | c.194 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89125254 | C | CA | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01109.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0019 others(23): Show |
26 | 227 | 0.1145 | 1 | c.194 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89126984 | A | AG | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01952.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0094 others(19): Show |
22 | 232 | 0.0948 | 1 | c.194 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127450 | A | AT | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01952.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0094 others(19): Show |
22 | 232 | 0.0948 | 1 | c.194 others(20): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89133267 | T | TA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0054 others(38): Show |
41 | 232 | 0.1767 | 1 | c.194 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89133834 | A | AT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01433.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0094 others(5): Show |
9 | 125 | 0.0720 | 1 | c.194 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89135406 | C | CA | intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 HG02572.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0098 others(9): Show |
12 | 232 | 0.0517 | 1 | c.195 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89136556 | G | GC | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01081.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(37): Show |
40 | 232 | 0.1724 | 1 | c.195 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89139018 | C | CA | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0044 others(16): Show |
19 | 232 | 0.0819 | 1 | c.195 others(20): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89141622 | C | CA | intron_variant | MODIFIER | HG01952.hp1 HG02055.hp1 HG02109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0018 a0001c0001t0001g0094 a0001c0001t0001g0097 others(9): Show |
12 | 232 | 0.0517 | 1 | c.195 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89148118 | C | CA | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0040 a0001c0001t0002g0057 a0001c0001t0002g0093 others(12): Show |
15 | 86 | 0.1744 | 1 | c.195 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89155122 | C | CT | intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 NA20129.hp1 |
a0001 | a0001c0007a0001c0008a0001c0009 | a0001c0007t0007a0001c0008t0001a0001c0009t0012 | a0001c0007t0007g0224 a0001c0008t0001g0227 a0001c0009t0012g0028 |
3 | 232 | 0.0129 | 1 | c.371 others(8): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89156115 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG01361.hp2 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0002g0057 others(8): Show |
11 | 104 | 0.1058 | 1 | c.538 others(8): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89156721 | G | GA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(107): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(106): Show |
110 | 225 | 0.4889 | 1 | c.538 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89160492 | G | GT | intron_variant | MODIFIER | HG02602.hp2 HG02735.hp1 HG02809.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0085 others(15): Show |
18 | 224 | 0.0804 | 1 | c.538 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89164777 | T | TA | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02451.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0011a0001c0001t0018others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0102 others(9): Show |
12 | 231 | 0.0519 | 1 | c.538 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89170031 | G | GT | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0102 others(5): Show |
8 | 232 | 0.0345 | 1 | c.539 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89170494 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(108): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(107): Show |
111 | 232 | 0.4784 | 1 | c.539 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89172024 | C | CT | intron_variant | MODIFIER | HG02602.hp2 HG02735.hp1 HG02895.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0086 others(12): Show |
15 | 215 | 0.0698 | 1 | c.539 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89172032 | T | TA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(111): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0018 others(111): Show |
114 | 232 | 0.4914 | 1 | c.539 others(18): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89172033 | T | TA | intron_variant | MODIFIER | HG01258.hp1 HG02004.hp1 HG02258.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(5): Show | a0001c0001t0004g0004 a0001c0001t0004g0017 a0001c0001t0004g0090 others(14): Show |
17 | 110 | 0.1545 | 1 | c.539 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89181228 | C | CA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01070.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0002g0039 a0001c0001t0002g0131 a0001c0001t0002g0132 others(27): Show |
30 | 73 | 0.4110 | 1 | c.723 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183677 | T | TA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(9): Show | a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0039 others(50): Show |
53 | 232 | 0.2284 | 1 | c.723 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89188883 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00738.hp2 others(49): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(10): Show | a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0039 others(49): Show |
52 | 227 | 0.2291 | 1 | c.926 others(8): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89191929 | G | GC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(102): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0039 others(102): Show |
105 | 232 | 0.4526 | 1 | c.996 others(16): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 9/10 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89192509 | C | CT | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0012 a0001c0001t0008g0083 a0001c0001t0008g0100 others(2): Show |
5 | 218 | 0.0229 | 1 | c.997 others(8): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89193920 | C | CA | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(6): Show |
9 | 40 | 0.2250 | 1 | c.108 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89200662 | C | CA | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0007a0001c0002t0017a0001c0002t0023others(1): Show | a0001c0002t0007g0021 a0001c0002t0007g0041 a0001c0002t0007g0110 others(5): Show |
8 | 232 | 0.0345 | 1 | c.*52 others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 11/11 | 5247 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89200729 | G | GA | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02572.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018a0001c0001t0036others(2): Show | a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0017 others(13): Show |
16 | 229 | 0.0699 | 1 | c.*53 others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 11/11 | 5317 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89203286 | C | CA | downstream_gene_variant | MODIFIER | HG01258.hp1 HG02559.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0002g0093 a0001c0001t0006g0156 a0001c0001t0006g0164 others(7): Show |
10 | 221 | 0.0452 | 1 | c.*78 others(12): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 932 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89205331 | C | CT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG00741.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0031 others(44): Show |
47 | 210 | 0.2238 | 1 | c.*99 others(12): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2977 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89206003 | A | AG | downstream_gene_variant | MODIFIER | HG01256.hp2 HG02145.hp2 NA18612.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0037a0001c0002t0007others(1): Show | a0001c0001t0002g0040 a0001c0001t0002g0213 a0001c0001t0002g0221 others(3): Show |
6 | 103 | 0.0583 | 1 | c.*10 others(14): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3649 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89206662 | A | AC | downstream_gene_variant | MODIFIER | HG02738.hp1 NA19005.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0007 | a0001c0001t0002g0057 a0001c0001t0005g0126 a0001c0002t0007g0021 |
3 | 137 | 0.0219 | 1 | c.*11 others(14): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4308 | chr15 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21647540 | C | CG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00621.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0026 others(8): Show |
11 | 302 | 0.0364 | 1 | c.*40 others(12): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3360 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21648788 | C | CA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(120): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0019 others(119): Show |
123 | 288 | 0.4271 | 1 | c.*28 others(12): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2112 | chr18 | TogoVar |