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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD16A_chr6_31681955_31708324 | 31689636 | T | C | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(349): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(135): Show |
352 | 416 | 0.8462 | 0 | c.102 others(4): Show |
p.Leu others(6): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 12/20 | 1069/1977 | 1026/1677 | 342/558 | chr6 | TogoVar | |||
ABHD16A_chr6_31681955_31708324 | 31689690 | C | T | synonymous_variant | LOW | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0049 | 2 | 416 | 0.0048 | 0 | c.972 others(3): Show |
p.Pro others(6): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 12/20 | 1015/1977 | 972/1677 | 324/558 | chr6 | TogoVar | |||
ABHD16A_chr6_31681955_31708324 | 31690546 | G | A | synonymous_variant | LOW | NA18945.hp2 NA18963.hp2 NA18984.hp1 others(10): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0007 a0001c0004t0002g0047 a0001c0004t0002g0104 others(1): Show |
13 | 416 | 0.0313 | 0 | c.900 others(3): Show |
p.Pro others(6): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 10/20 | 943/1977 | 900/1677 | 300/558 | chr6 | TogoVar | |||
ABHD16A_chr6_31681955_31708324 | 31693071 | G | A | synonymous_variant | LOW | HG01106.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0101 | 1 | 416 | 0.0024 | 0 | c.582 others(3): Show |
p.Asp others(6): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 7/20 | 625/1977 | 582/1677 | 194/558 | chr6 | TogoVar | |||
ABHD16B_chr20_63856498_63867988 | 63861568 | C | T | synonymous_variant | LOW | HG01109.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0000 | 1 | 396 | 0.0025 | 0 | c.28C others(2): Show |
p.Leu others(5): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 71/1491 | 28/1410 | 10/469 | chr20 | TogoVar | |||
ABHD16B_chr20_63856498_63867988 | 63861708 | G | C | synonymous_variant | LOW | NA18963.hp2 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0000 | 1 | 396 | 0.0025 | 0 | c.168 others(3): Show |
p.Ala others(5): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 211/1491 | 168/1410 | 56/469 | chr20 | TogoVar | |||
ABHD16B_chr20_63856498_63867988 | 63861792 | G | A | synonymous_variant | LOW | HG03098.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0000 | 1 | 396 | 0.0025 | 0 | c.252 others(3): Show |
p.Gln others(5): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 295/1491 | 252/1410 | 84/469 | chr20 | TogoVar | |||
ABHD16B_chr20_63856498_63867988 | 63862512 | G | A | synonymous_variant | LOW | HG03453.hp1 NA20300.hp1 |
a0001a0003 | a0001c0017a0003c0016 | a0001c0017t0001a0003c0016t0001 | a0001c0017t0001g0000 a0003c0016t0001g0000 |
2 | 396 | 0.0051 | 0 | c.972 others(3): Show |
p.Val others(6): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 1015/1491 | 972/1410 | 324/469 | chr20 | TogoVar | |||
ABHD16B_chr20_63856498_63867988 | 63862551 | T | C | synonymous_variant | LOW | HG02451.hp1 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001a0003 | a0001c0004a0001c0017a0003c0016 | a0001c0004t0001a0001c0017t0001a0003c0016t0001 | a0001c0004t0001g0000 a0001c0017t0001g0000 a0003c0016t0001g0000 |
6 | 396 | 0.0152 | 0 | c.101 others(4): Show |
p.Gly others(6): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 1054/1491 | 1011/1410 | 337/469 | chr20 | TogoVar | |||
ABHD16B_chr20_63856498_63867988 | 63862674 | G | C | synonymous_variant | LOW | HG00280.hp2 HG00597.hp2 HG00621.hp1 others(35): Show |
a0001a0002a0005others(5): Show | a0001c0005a0002c0002a0005c0007others(5): Show | a0001c0005t0001a0002c0002t0001a0005c0007t0001others(5): Show | a0001c0005t0001g0000 a0002c0002t0001g0000 a0005c0007t0001g0000 others(5): Show |
38 | 396 | 0.0960 | 0 | c.113 others(4): Show |
p.Ala others(6): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 1177/1491 | 1134/1410 | 378/469 | chr20 | TogoVar | |||
ABHD16B_chr20_63856498_63867988 | 63862776 | G | A | synonymous_variant | LOW | NA18963.hp2 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0000 | 1 | 396 | 0.0025 | 0 | c.123 others(4): Show |
p.Glu others(6): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 1279/1491 | 1236/1410 | 412/469 | chr20 | TogoVar | |||
ABHD16B_chr20_63856498_63867988 | 63862942 | C | A | synonymous_variant | LOW | NA18969.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0000 | 1 | 396 | 0.0025 | 0 | c.140 others(4): Show |
p.Arg others(6): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 1445/1491 | 1402/1410 | 468/469 | chr20 | TogoVar | |||
ABHD17A_chr19_1871810_1890496 | 1879944 | G | A | synonymous_variant | LOW | HG02738.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0035 | 1 | 414 | 0.0024 | 0 | c.504 others(3): Show |
p.Ala others(6): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 3/5 | 887/1706 | 504/933 | 168/310 | chr19 | TogoVar | |||
ABHD17A_chr19_1871810_1890496 | 1881501 | G | A | synonymous_variant | LOW | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0023 | 2 | 414 | 0.0048 | 0 | c.66C others(2): Show |
p.Ile others(5): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2/5 | 449/1706 | 66/933 | 22/310 | chr19 | TogoVar | |||
ABHD17B_chr9_71860152_71916193 | 71874679 | G | A | synonymous_variant | LOW | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 184 | 0.0054 | 0 | c.402 others(3): Show |
p.Ser others(6): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2/4 | 965/3065 | 402/867 | 134/288 | chr9 | TogoVar | |||
ABHD17C_chr15_80690310_80760621 | 80695471 | T | A | synonymous_variant | LOW | HG03225.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0030 | 1 | 11 | 0.0909 | 0 | c.42T others(2): Show |
p.Gly others(5): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/3 | 162/2361 | 42/990 | 14/329 | chr15 | TogoVar | |||
ABHD17C_chr15_80690310_80760621 | 80695471 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(327): Show |
347 | 357 | 0.9720 | 0 | c.42T others(2): Show |
p.Gly others(5): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/3 | 162/2361 | 42/990 | 14/329 | chr15 | TogoVar | |||
ABHD17C_chr15_80690310_80760621 | 80749606 | G | A | synonymous_variant | LOW | HG01891.hp1 NA18906.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0308 a0001c0004t0001g0309 |
2 | 358 | 0.0056 | 0 | c.684 others(3): Show |
p.Ala others(6): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 2/3 | 804/2361 | 684/990 | 228/329 | chr15 | TogoVar | |||
ABHD17C_chr15_80690310_80760621 | 80754352 | C | T | synonymous_variant | LOW | HG02572.hp2 HG02647.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0026 others(1): Show |
4 | 358 | 0.0112 | 0 | c.972 others(3): Show |
p.His others(6): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 3/3 | 1092/2361 | 972/990 | 324/329 | chr15 | TogoVar | |||
ABHD18_chr4_127960406_128044953 | 128008956 | A | G | synonymous_variant | LOW | HG02717.hp2 HG03098.hp2 |
a0001 | a0001c0005 | a0001c0005t0011a0001c0005t0083 | a0001c0005t0011g0003 a0001c0005t0083g0004 |
2 | 342 | 0.0058 | 0 | c.315 others(3): Show |
p.Lys others(6): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 5/13 | 533/5753 | 315/1395 | 105/464 | chr4 | TogoVar | |||
ABHD18_chr4_127960406_128044953 | 128028651 | A | G | synonymous_variant | LOW | HG02074.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0157 | 1 | 342 | 0.0029 | 0 | c.978 others(3): Show |
p.Ser others(6): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 11/13 | 1196/5753 | 978/1395 | 326/464 | chr4 | TogoVar | |||
ABHD1_chr2_27118815_27135812 | 27129603 | G | T | synonymous_variant | LOW | HG02280.hp2 HG03471.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0034 a0001c0005t0001g0042 |
2 | 398 | 0.0050 | 0 | c.594 others(3): Show |
p.Leu others(6): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 5/9 | 728/1420 | 594/1218 | 198/405 | chr2 | TogoVar | |||
ABHD2_chr15_89083456_89207355 | 89155470 | C | T | synonymous_variant | LOW | HG01109.hp1 HG02922.hp1 NA20129.hp1 |
a0001 | a0001c0007a0001c0008a0001c0009 | a0001c0007t0007a0001c0008t0001a0001c0009t0012 | a0001c0007t0007g0224 a0001c0008t0001g0227 a0001c0009t0012g0028 |
3 | 232 | 0.0129 | 0 | c.474 others(3): Show |
p.Ala others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/11 | 688/8424 | 474/1278 | 158/425 | chr15 | TogoVar | |||
ABHD2_chr15_89083456_89207355 | 89188244 | G | A | synonymous_variant | LOW | HG02165.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0190 | 1 | 232 | 0.0043 | 0 | c.867 others(3): Show |
p.Thr others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 8/11 | 1081/8424 | 867/1278 | 289/425 | chr15 | TogoVar | |||
ABHD2_chr15_89083456_89207355 | 89191089 | C | T | synonymous_variant | LOW | HG02280.hp2 HG02486.hp2 HG02895.hp1 |
a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0101 a0001c0003t0015g0193 a0001c0003t0015g0233 |
3 | 232 | 0.0129 | 0 | c.936 others(3): Show |
p.His others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 9/11 | 1150/8424 | 936/1278 | 312/425 | chr15 | TogoVar | |||
ABHD2_chr15_89083456_89207355 | 89193270 | C | T | synonymous_variant | LOW | HG01891.hp2 HG02922.hp1 HG03471.hp2 |
a0001 | a0001c0004a0001c0009 | a0001c0004t0012a0001c0009t0012 | a0001c0004t0012g0002 a0001c0004t0012g0225 a0001c0009t0012g0028 |
3 | 232 | 0.0129 | 0 | c.103 others(4): Show |
p.Asp others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 10/11 | 1246/8424 | 1032/1278 | 344/425 | chr15 | TogoVar | |||
ABHD2_chr15_89083456_89207355 | 89195405 | G | A | synonymous_variant | LOW | HG01243.hp2 HG02145.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0007a0001c0002t0017a0001c0002t0023others(1): Show | a0001c0002t0007g0021 a0001c0002t0007g0041 a0001c0002t0007g0110 others(5): Show |
8 | 232 | 0.0345 | 0 | c.126 others(4): Show |
p.Val others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 11/11 | 1474/8424 | 1260/1278 | 420/425 | chr15 | TogoVar | |||
ABHD3_chr18_21645901_21709774 | 21651654 | G | A | synonymous_variant | LOW | NA18968.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0103 | 1 | 302 | 0.0033 | 0 | c.116 others(4): Show |
p.Tyr others(6): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 9/9 | 1276/2029 | 1167/1230 | 389/409 | chr18 | TogoVar | |||
ABHD3_chr18_21645901_21709774 | 21659193 | G | A | synonymous_variant | LOW | HG01167.hp2 HG02258.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0011 | a0001c0003t0002g0173 a0001c0003t0002g0191 a0001c0003t0002g0194 others(2): Show |
5 | 302 | 0.0166 | 0 | c.819 others(3): Show |
p.Thr others(6): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 6/9 | 928/2029 | 819/1230 | 273/409 | chr18 | TogoVar | |||
ABHD3_chr18_21645901_21709774 | 21664201 | A | G | synonymous_variant | LOW | HG01891.hp2 HG02055.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 others(3): Show |
6 | 302 | 0.0199 | 0 | c.585 others(3): Show |
p.Thr others(6): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/9 | 694/2029 | 585/1230 | 195/409 | chr18 | TogoVar | |||
ABHD3_chr18_21645901_21709774 | 21704644 | G | A | synonymous_variant | LOW | HG01256.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0250 | 1 | 302 | 0.0033 | 0 | c.22C others(2): Show |
p.Leu others(4): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 1/9 | 131/2029 | 22/1230 | 8/409 | chr18 | TogoVar | |||
ABHD4_chr14_22593300_22617963 | 22603628 | G | A | synonymous_variant | LOW | HG04184.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0139 | 1 | 422 | 0.0024 | 0 | c.351 others(3): Show |
p.Pro others(6): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 3/7 | 358/3051 | 351/1029 | 117/342 | chr14 | TogoVar | |||
ABHD4_chr14_22593300_22617963 | 22603751 | G | A | synonymous_variant | LOW | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0099 | 1 | 422 | 0.0024 | 0 | c.474 others(3): Show |
p.Lys others(6): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 3/7 | 481/3051 | 474/1029 | 158/342 | chr14 | TogoVar | |||
ABHD4_chr14_22593300_22617963 | 22609838 | C | T | synonymous_variant | LOW | HG03486.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0102 | 1 | 422 | 0.0024 | 0 | c.867 others(3): Show |
p.Ser others(6): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 6/7 | 874/3051 | 867/1029 | 289/342 | chr14 | TogoVar | |||
ABHD4_chr14_22593300_22617963 | 22609904 | A | T | synonymous_variant | LOW | HG00280.hp1 HG01106.hp1 HG01256.hp1 others(45): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0011 others(26): Show |
48 | 422 | 0.1137 | 0 | c.933 others(3): Show |
p.Arg others(6): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 6/7 | 940/3051 | 933/1029 | 311/342 | chr14 | TogoVar | |||
ABHD5_chr3_43685938_43727725 | 43691004 | G | A | synonymous_variant | LOW | HG01081.hp1 HG01255.hp2 HG01952.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0018a0001c0002t0027others(2): Show | a0001c0002t0005g0031 a0001c0002t0005g0149 a0001c0002t0005g0150 others(10): Show |
14 | 284 | 0.0493 | 0 | c.12G others(2): Show |
p.Glu others(4): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/7 | 67/5298 | 12/1050 | 4/349 | chr3 | TogoVar | |||
ABHD5_chr3_43685938_43727725 | 43691031 | C | T | synonymous_variant | LOW | HG03239.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0002 | 1 | 284 | 0.0035 | 0 | c.39C others(2): Show |
p.Thr others(5): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/7 | 94/5298 | 39/1050 | 13/349 | chr3 | TogoVar | |||
ABHD8_chr19_17287131_17308425 | 17294701 | C | T | synonymous_variant | LOW | HG03041.hp2 HG03540.hp1 |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0143 a0001c0006t0005g0149 |
2 | 384 | 0.0052 | 0 | c.906 others(3): Show |
p.Ser others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 3/5 | 1098/2042 | 906/1320 | 302/439 | chr19 | TogoVar | |||
ABHD8_chr19_17287131_17308425 | 17294803 | T | C | synonymous_variant | LOW | HG00558.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0233 | 1 | 384 | 0.0026 | 0 | c.804 others(3): Show |
p.Leu others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 3/5 | 996/2042 | 804/1320 | 268/439 | chr19 | TogoVar | |||
ABHD8_chr19_17287131_17308425 | 17301248 | A | G | synonymous_variant | LOW | HG01891.hp1 HG03209.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0002 | a0001c0005t0001g0276 a0001c0005t0002g0136 |
2 | 384 | 0.0052 | 0 | c.369 others(3): Show |
p.Asp others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/5 | 561/2042 | 369/1320 | 123/439 | chr19 | TogoVar | |||
ABHD8_chr19_17287131_17308425 | 17301398 | G | A | synonymous_variant | LOW | HG01123.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0135 | 1 | 384 | 0.0026 | 0 | c.219 others(3): Show |
p.Ser others(5): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/5 | 411/2042 | 219/1320 | 73/439 | chr19 | TogoVar | |||
ABHD8_chr19_17287131_17308425 | 17301425 | G | A | synonymous_variant | LOW | HG02486.hp2 HG02970.hp2 NA19240.hp2 |
a0001 | a0001c0004 | a0001c0004t0009a0001c0004t0018 | a0001c0004t0009g0278 a0001c0004t0009g0280 a0001c0004t0018g0279 |
3 | 384 | 0.0078 | 0 | c.192 others(3): Show |
p.Ser others(5): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/5 | 384/2042 | 192/1320 | 64/439 | chr19 | TogoVar | |||
ABHD8_chr19_17287131_17308425 | 17301557 | G | A | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(58): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003a0001c0003t0007others(1): Show | a0001c0003t0001g0183 a0001c0003t0003g0003 a0001c0003t0003g0008 others(48): Show |
61 | 384 | 0.1589 | 0 | c.60C others(2): Show |
p.Ala others(5): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/5 | 252/2042 | 60/1320 | 20/439 | chr19 | TogoVar | |||
ABHD8_chr19_17287131_17308425 | 17301590 | G | A | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(59): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0003t0003a0001c0003t0007others(2): Show | a0001c0003t0001g0183 a0001c0003t0003g0003 a0001c0003t0003g0008 others(49): Show |
62 | 384 | 0.1615 | 0 | c.27C others(2): Show |
p.Ile others(4): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/5 | 219/2042 | 27/1320 | 9/439 | chr19 | TogoVar | |||
ABI2_chr2_203323394_203437169 | 203417014 | G | C | synonymous_variant | LOW | HG02976.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0024 | a0001c0002t0005g0116 a0001c0002t0024g0118 |
2 | 318 | 0.0063 | 0 | c.138 others(4): Show |
p.Val others(6): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 11/12 | 1507/6567 | 1386/1629 | 462/542 | chr2 | TogoVar | |||
ABI3BP_chr3_100744156_100998421 | 100754661 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(63): Show |
a0001a0002a0003others(5): Show | a0001c0005a0001c0009a0001c0022others(14): Show | a0001c0005t0001a0001c0005t0004a0001c0005t0016others(26): Show | a0001c0005t0001g0058 a0001c0005t0001g0063 a0001c0005t0001g0084 others(63): Show |
66 | 236 | 0.2797 | 0 | c.488 others(4): Show |
p.Pro others(7): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 64/68 | 4918/6737 | 4881/5361 | 1627/1786 | chr3 | TogoVar | |||
ABI3BP_chr3_100744156_100998421 | 100770858 | C | A | synonymous_variant | LOW | HG03139.hp2 | a0023 | a0023c0043 | a0023c0043t0004 | a0023c0043t0004g0205 | 1 | 236 | 0.0042 | 0 | c.462 others(4): Show |
p.Gly others(7): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 62/68 | 4663/6737 | 4626/5361 | 1542/1786 | chr3 | TogoVar | |||
ABI3BP_chr3_100744156_100998421 | 100787798 | C | T | synonymous_variant | LOW | HG00597.hp2 | a0001 | a0001c0032 | a0001c0032t0005 | a0001c0032t0005g0111 | 1 | 236 | 0.0042 | 0 | c.409 others(4): Show |
p.Leu others(7): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 57/68 | 4129/6737 | 4092/5361 | 1364/1786 | chr3 | TogoVar | |||
ABI3BP_chr3_100744156_100998421 | 100817440 | C | T | synonymous_variant | LOW | HG00597.hp1 HG00735.hp2 HG01167.hp2 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0017a0001c0022others(8): Show | a0001c0005t0001a0001c0005t0004a0001c0005t0016others(13): Show | a0001c0005t0001g0058 a0001c0005t0001g0063 a0001c0005t0001g0084 others(33): Show |
36 | 236 | 0.1525 | 0 | c.314 others(4): Show |
p.Thr others(7): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 42/68 | 3181/6737 | 3144/5361 | 1048/1786 | chr3 | TogoVar | |||
ABI3BP_chr3_100744156_100998421 | 100825831 | G | A | synonymous_variant | LOW | HG01346.hp1 HG01358.hp1 HG01361.hp2 others(4): Show |
a0001a0002 | a0001c0035a0001c0059a0002c0010 | a0001c0035t0002a0001c0059t0002a0002c0010t0002 | a0001c0035t0002g0161 a0001c0059t0002g0029 a0002c0010t0002g0066 others(4): Show |
7 | 236 | 0.0297 | 0 | c.261 others(4): Show |
p.Asp others(6): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 35/68 | 2653/6737 | 2616/5361 | 872/1786 | chr3 | TogoVar |