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 | 80720920 | CA | C | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0167 a0001c0001t0001g0257 others(11): Show |
18 | 355 | 0.0507 | -1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80722321 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00735.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0156 others(19): Show |
22 | 277 | 0.0794 | -1 | c.590 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80723821 | TC | T | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0002g0001 others(8): Show |
14 | 358 | 0.0391 | -1 | c.591 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80726501 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(127): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0021 a0001c0001t0001g0114 a0001c0001t0001g0115 others(122): Show |
130 | 198 | 0.6566 | -1 | c.591 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80729941 | TC | T | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0002g0001 others(8): Show |
14 | 358 | 0.0391 | -1 | c.591 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80730108 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0178 others(75): Show |
86 | 358 | 0.2402 | -1 | c.591 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80735864 | TC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(135): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(129): Show |
138 | 358 | 0.3855 | -1 | c.591 others(10): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80745391 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 others(47): Show |
50 | 350 | 0.1429 | -1 | c.591 others(9): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80756361 | AT | A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01361.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0169 a0001c0001t0005g0007 a0001c0001t0005g0008 others(12): Show |
18 | 358 | 0.0503 | -1 | c.*19 others(6): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 741 | chr15 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127966702 | CA | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02015.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(7): Show | a0001c0001t0003g0119 a0001c0001t0003g0125 a0001c0001t0003g0127 others(11): Show |
14 | 63 | 0.2222 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127969204 | CT | C | intron_variant | MODIFIER | HG01515.hp2 HG01891.hp2 HG02109.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0022others(10): Show | a0001c0001t0003g0043 a0001c0001t0011g0102 a0001c0001t0022g0337 others(16): Show |
19 | 337 | 0.0564 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127970589 | CA | C | intron_variant | MODIFIER | HG01515.hp2 HG01943.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0001 a0001c0001t0003g0042 a0001c0001t0003g0226 others(8): Show |
11 | 330 | 0.0333 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127971254 | CA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(55): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(14): Show | a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 others(55): Show |
58 | 308 | 0.1883 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127971482 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00621.hp2 others(81): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(41): Show | a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 others(81): Show |
84 | 168 | 0.5000 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127972520 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 others(122): Show |
125 | 232 | 0.5388 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127973817 | CA | C | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01496.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0008a0001c0001t0061others(5): Show | a0001c0001t0004g0154 a0001c0001t0004g0202 a0001c0001t0008g0133 others(7): Show |
10 | 210 | 0.0476 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127974188 | GT | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(60): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0013a0001c0001t0019a0001c0001t0040others(19): Show | a0001c0001t0013g0237 a0001c0001t0019g0106 a0001c0001t0040g0029 others(60): Show |
63 | 289 | 0.2180 | -1 | c.-18 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127977773 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(64): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0003a0001c0001t0008a0002c0002t0001others(18): Show | a0001c0001t0003g0113 a0001c0001t0008g0013 a0002c0002t0001g0270 others(64): Show |
67 | 334 | 0.2006 | -1 | c.-17 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127979915 | CA | C | intron_variant | MODIFIER | HG02976.hp2 HG03041.hp1 NA18959.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0003g0046 a0001c0001t0006g0095 a0001c0001t0008g0025 others(3): Show |
6 | 186 | 0.0323 | -1 | c.-17 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127980601 | AT | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00609.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0229 others(12): Show |
15 | 342 | 0.0439 | -1 | c.-17 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127980825 | CA | C | intron_variant | MODIFIER | HG01256.hp1 HG01496.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0025a0001c0001t0061others(2): Show | a0001c0001t0016g0235 a0001c0001t0025g0263 a0001c0001t0025g0265 others(3): Show |
6 | 302 | 0.0199 | -1 | c.-17 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127984043 | GA | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0012a0002c0002t0001a0002c0002t0014others(19): Show | a0001c0001t0012g0159 a0002c0002t0001g0270 a0002c0002t0001g0272 others(59): Show |
62 | 296 | 0.2095 | -1 | c.93- others(7): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127986688 | AT | A | intron_variant | MODIFIER | HG00735.hp2 HG02717.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018a0001c0001t0046others(4): Show | a0001c0001t0015g0099 a0001c0001t0018g0008 a0001c0001t0018g0033 others(8): Show |
11 | 342 | 0.0322 | -1 | c.177 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3/12 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127987706 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0065a0003c0003t0034a0003c0003t0048others(3): Show | a0001c0001t0065g0334 a0003c0003t0034g0134 a0003c0003t0034g0136 others(4): Show |
7 | 337 | 0.0208 | -1 | c.178 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127987718 | AT | A | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(1): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(6): Show |
9 | 342 | 0.0263 | -1 | c.178 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 3/12 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127996438 | TA | T | 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 | 341 | 0.2551 | -1 | c.278 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128001845 | TG | T | intron_variant | MODIFIER | HG01168.hp2 HG02280.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0043a0001c0001t0089 | a0001c0001t0027g0058 a0001c0001t0027g0253 a0001c0001t0027g0255 others(3): Show |
6 | 342 | 0.0175 | -1 | c.279 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | chr4 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 128001846 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(127): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0002g0129 a0001c0001t0002g0194 a0001c0001t0002g0195 others(127): Show |
130 | 257 | 0.5058 | -1 | c.279 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128003367 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(45): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0205 others(45): Show |
48 | 340 | 0.1412 | -1 | c.279 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128007576 | TA | T | intron_variant | MODIFIER | HG01433.hp1 HG01943.hp1 HG01943.hp2 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0002g0248 a0001c0001t0004g0152 a0001c0001t0004g0161 others(15): Show |
18 | 342 | 0.0526 | -1 | c.279 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128011479 | GT | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0003g0043 others(66): Show |
69 | 266 | 0.2594 | -1 | c.443 others(8): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128013064 | CA | C | intron_variant | MODIFIER | HG00609.hp2 HG01496.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(4): Show | a0001c0001t0002g0243 a0001c0001t0004g0190 a0001c0001t0013g0236 others(4): Show |
7 | 263 | 0.0266 | -1 | c.470 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128014784 | TA | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0022a0001c0001t0025a0001c0001t0035others(30): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(83): Show |
86 | 342 | 0.2515 | -1 | c.471 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128015076 | TA | T | intron_variant | MODIFIER | HG01168.hp2 HG02280.hp1 HG02451.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0003g0007 a0001c0001t0003g0046 a0001c0001t0005g0077 others(12): Show |
15 | 323 | 0.0464 | -1 | c.471 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128019013 | CA | C | intron_variant | MODIFIER | HG00621.hp2 HG01256.hp2 HG02451.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0017others(9): Show | a0001c0001t0003g0043 a0001c0001t0005g0078 a0001c0001t0005g0123 others(13): Show |
16 | 324 | 0.0494 | -1 | c.610 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128023403 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(49): Show | a0001c0001t0002g0129 a0001c0001t0002g0194 a0001c0001t0002g0195 others(132): Show |
135 | 198 | 0.6818 | -1 | c.801 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128025441 | CT | C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0058a0003c0003t0059others(1): Show | a0003c0003t0034g0134 a0003c0003t0034g0136 a0003c0003t0058g0344 others(2): Show |
5 | 342 | 0.0146 | -1 | c.802 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128031298 | CA | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(57): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0014others(16): Show | a0001c0001t0002g0238 a0002c0002t0001g0270 a0002c0002t0001g0272 others(57): Show |
60 | 324 | 0.1852 | -1 | c.134 others(9): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128033524 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(63): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0002g0129 a0001c0001t0002g0194 a0001c0001t0002g0199 others(63): Show |
66 | 237 | 0.2785 | -1 | c.134 others(10): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128033959 | CT | C | intron_variant | MODIFIER | HG01168.hp2 HG01496.hp1 HG01891.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(11): Show | a0001c0001t0002g0208 a0001c0001t0003g0030 a0001c0001t0013g0249 others(14): Show |
17 | 324 | 0.0525 | -1 | c.134 others(10): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128037118 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01074.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019a0001c0001t0024others(11): Show | a0001c0001t0018g0008 a0001c0001t0018g0024 a0001c0001t0018g0033 others(26): Show |
29 | 233 | 0.1245 | -1 | c.*13 others(6): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 1332 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128037364 | TG | T | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0058a0003c0003t0059others(1): Show | a0003c0003t0034g0134 a0003c0003t0034g0136 a0003c0003t0058g0344 others(2): Show |
5 | 342 | 0.0146 | -1 | c.*15 others(6): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 1553 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128042599 | TA | T | downstream_gene_variant | MODIFIER | NA18939.hp2 NA18942.hp2 NA18943.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0028a0002c0002t0001a0002c0002t0029others(2): Show | a0001c0001t0028g0224 a0002c0002t0001g0272 a0002c0002t0001g0277 others(9): Show |
12 | 342 | 0.0351 | -1 | c.*67 others(6): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 2647 | chr4 | TogoVar | |||||||
ABHD1_chr2_27118815_27135812 | 27121385 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(160): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(76): Show |
163 | 395 | 0.4127 | -1 | c.-25 others(6): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 2429 | chr2 | TogoVar | |||||||
ABHD1_chr2_27118815_27135812 | 27125137 | CA | C | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01981.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0003a0003c0003t0001 | a0001c0001t0001g0043 a0001c0001t0001g0073 a0001c0001t0001g0117 others(5): Show |
8 | 383 | 0.0209 | -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 | 27125900 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(99): Show |
353 | 367 | 0.9619 | -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 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(139): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0012others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(41): Show |
142 | 180 | 0.7889 | -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 | CT | C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01070.hp1 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0031 others(15): Show |
45 | 273 | 0.1648 | -1 | c.115 others(9): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89084209 | TA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(123): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(122): Show |
126 | 166 | 0.7590 | -1 | c.-44 others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4246 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89093173 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(146): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(146): Show |
149 | 214 | 0.6963 | -1 | c.-10 others(10): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |