regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD12_chr20_25295214_25395835 | 25325203 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(126): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0010a0001c0002t0002others(9): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0010g0290others(126): Show | 129 | 316 | 0.4082 | -3 | c.317 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25326746 | AAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0006others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(138): Show | 141 | 316 | 0.4462 | -3 | c.317 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25348446 | TAAA | T | intron_variant | MODIFIER | HG01515.hp2 HG01884.hp2 HG01975.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0010a0001c0002t0011a0001c0003t0002others(2): Show | a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294others(20): Show | 23 | 316 | 0.0728 | -3 | c.192 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25356906 | TAGG | T | intron_variant | MODIFIER | HG01081.hp1 HG03579.hp1 HG04199.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(2): Show | 5 | 316 | 0.0158 | -3 | c.192 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25367702 | CATA | C | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0267a0001c0001t0004g0291a0001c0005t0004g0293others(1): Show | 4 | 316 | 0.0127 | -3 | c.191 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25388149 | TGAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(269): Show | 273 | 316 | 0.8639 | -3 | c.191 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25388787 | CTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0212a0001c0002t0003g0213a0001c0002t0003g0214others(6): Show | 9 | 316 | 0.0285 | -3 | c.191 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25390476 | GGCC | G | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0001t0009a0001c0003t0002others(1): Show | a0001c0001t0004g0276a0001c0001t0004g0280a0001c0001t0004g0281others(9): Show | 12 | 316 | 0.0380 | -3 | c.191 others(16): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108220280 | CTCT | C | intron_variant | MODIFIER | NA18946.hp2 NA18953.hp2 NA18974.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0086a0001c0002t0001g0017 | 6 | 390 | 0.0154 | -3 | c.-21 others(20): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD13_chr13_108213392_108239243 | 108235407 | GTAT | G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00738.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0089others(2): Show | 35 | 390 | 0.0897 | -3 | c.*51 others(14): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1165 | chr13 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | CAAA | C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01243.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005 | 9 | 344 | 0.0262 | -3 | c.*87 others(12): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | ||||||
ABHD15_chr17_29555547_29572037 | 29558420 | TTTC | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0059 | 6 | 418 | 0.0144 | -3 | c.*41 others(14): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 2126 | chr17 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31682781 | CAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0039a0001c0001t0002g0040a0001c0003t0002g0005others(10): Show | 31 | 417 | 0.0743 | -3 | c.*44 others(14): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4173 | chr6 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31705366 | TTTA | T | upstream_gene_variant | MODIFIER | HG02071.hp2 HG02683.hp1 HG02698.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0149 | 4 | 417 | 0.0096 | -3 | c.-20 others(14): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 2043 | chr6 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31706264 | CTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(80): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(2): Show | a0001c0001t0002g0006a0001c0001t0002g0011a0001c0001t0002g0016others(46): Show | 83 | 417 | 0.1990 | -3 | c.-29 others(14): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 2941 | chr6 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(10): Show | 77 | 416 | 0.1851 | -3 | c.*24 others(14): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71894660 | ACTT | A | intron_variant | MODIFIER | HG02630.hp1 HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148a0001c0001t0003g0149a0001c0001t0003g0155 | 3 | 186 | 0.0161 | -3 | c.-4+ others(20): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80690615 | GAAC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01069.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0050others(26): Show | 32 | 360 | 0.0889 | -3 | c.-48 others(14): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 4694 | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713354 | CTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01255.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0185a0001c0001t0001g0192a0001c0001t0001g0196others(5): Show | 8 | 360 | 0.0222 | -3 | c.590 others(22): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80726501 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0168a0001c0001t0001g0170a0001c0001t0001g0174others(54): Show | 59 | 360 | 0.1639 | -3 | c.591 others(22): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80748707 | CCTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0283a0001c0001t0003g0321a0001c0001t0003g0327others(58): Show | 65 | 360 | 0.1806 | -3 | c.591 others(18): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01074.hp1 others(23): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(14): Show | a0001c0001t0004g0152a0001c0001t0004g0154a0001c0001t0007g0137others(23): Show | 26 | 344 | 0.0756 | -3 | c.-18 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127968992 | TAAG | T | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02622.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0059a0003c0003t0060 | a0003c0003t0034g0134a0003c0003t0034g0136a0003c0003t0059g0135others(1): Show | 4 | 344 | 0.0116 | -3 | c.-18 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127972520 | CTTT | C | intron_variant | MODIFIER | HG02886.hp2 NA18939.hp2 NA18957.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0035a0002c0002t0001a0002c0002t0033others(1): Show | a0001c0001t0035g0336a0002c0002t0001g0277a0002c0002t0001g0290others(3): Show | 6 | 344 | 0.0174 | -3 | c.-18 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128001838 | TTTG | T | intron_variant | MODIFIER | HG01496.hp2 HG02572.hp2 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0061a0001c0001t0063a0001c0001t0064others(2): Show | a0001c0001t0061g0267a0001c0001t0063g0266a0001c0001t0064g0268others(2): Show | 5 | 344 | 0.0145 | -3 | c.279 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128003971 | AACC | A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(6): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(12): Show | 15 | 344 | 0.0436 | -3 | c.279 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128005800 | TGAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0007a0004c0004t0007a0004c0004t0012others(1): Show | a0001c0001t0007g0130a0001c0001t0007g0137a0001c0001t0007g0142others(7): Show | 10 | 344 | 0.0291 | -3 | c.279 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128013977 | CTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(53): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(14): Show | a0002c0002t0001g0270a0002c0002t0001g0272a0002c0002t0001g0276others(53): Show | 56 | 344 | 0.1628 | -3 | c.470 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128023403 | CAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(12): Show | a0002c0002t0001g0270a0002c0002t0001g0272a0002c0002t0001g0277others(40): Show | 43 | 344 | 0.1250 | -3 | c.801 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128037118 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG01978.hp2 HG02132.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0030a0002c0002t0031a0002c0002t0051others(2): Show | a0002c0002t0030g0273a0002c0002t0030g0331a0002c0002t0031g0281others(4): Show | 7 | 344 | 0.0204 | -3 | c.*13 others(14): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 1330 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ABHD1_chr2_27118815_27135812 | 27125900 | CAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01167.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0044others(3): Show | 15 | 400 | 0.0375 | -3 | c.114 others(20): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89090505 | TAAC | T | intron_variant | MODIFIER | HG02922.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0012 | a0001c0001t0001g0028a0001c0009t0012g0027 | 2 | 234 | 0.0086 | -3 | c.-10 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89093047 | CCTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01891.hp2 HG01952.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(14): Show | 17 | 234 | 0.0727 | -3 | c.-10 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89123593 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(63): Show | 66 | 234 | 0.2821 | -3 | c.194 others(20): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89134222 | GTCT | G | intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0097a0001c0001t0001g0099a0001c0001t0001g0149others(6): Show | 9 | 234 | 0.0385 | -3 | c.195 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89170080 | CTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0044a0001c0001t0001g0060a0001c0001t0002g0024others(12): Show | 15 | 234 | 0.0641 | -3 | c.539 others(20): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89206693 | AAAT | A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0002a0001c0004a0001c0007others(1): Show | a0001c0002t0007a0001c0002t0017a0001c0002t0023others(3): Show | a0001c0002t0007g0020a0001c0002t0007g0040a0001c0002t0007g0111others(8): Show | 11 | 234 | 0.0470 | -3 | c.*11 others(16): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4339 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21674230 | CTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01081.hp2 others(16): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0041a0001c0001t0001g0095a0001c0001t0001g0096others(16): Show | 19 | 304 | 0.0625 | -3 | c.555 others(20): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43694125 | TGGC | T | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 HG01952.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0018a0001c0002t0027others(2): Show | a0001c0002t0005g0152a0001c0002t0005g0153a0001c0002t0005g0154others(11): Show | 14 | 286 | 0.0490 | -3 | c.47+ others(18): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43703284 | ATTC | A | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0034a0001c0001t0002g0035others(6): Show | 12 | 286 | 0.0420 | -3 | c.506 others(18): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43719876 | ATAG | A | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG01167.hp1 others(27): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0008 | a0001c0001t0004a0001c0001t0007a0001c0001t0017others(3): Show | a0001c0001t0004g0017a0001c0001t0004g0025a0001c0001t0004g0026others(16): Show | 30 | 286 | 0.1049 | -3 | c.*13 others(14): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 7/7 | 1346 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ABHD6_chr3_58232792_58299734 | 58271766 | GTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01106.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0185a0001c0001t0001g0284a0001c0001t0001g0285others(20): Show | 25 | 302 | 0.0828 | -3 | c.523 others(18): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58297740 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(96): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0293others(95): Show | 99 | 302 | 0.3278 | -3 | c.*39 others(14): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3007 | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17289411 | AAAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00597.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0003 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0010others(29): Show | 37 | 386 | 0.0959 | -3 | c.*32 others(14): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17305241 | CTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG02257.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0088a0001c0001t0002g0090a0001c0001t0004g0097others(4): Show | 7 | 386 | 0.0181 | -3 | c.-20 others(14): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1817 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26743078 | CAAT | C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG02055.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0218a0001c0001t0002g0219a0001c0001t0002g0222others(4): Show | 7 | 358 | 0.0196 | -3 | c.*54 others(14): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3517 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26758068 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(106): Show | 109 | 358 | 0.3045 | -3 | c.997 others(18): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26760888 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0046a0001c0001t0001g0067a0001c0001t0001g0074others(62): Show | 65 | 358 | 0.1816 | -3 | c.821 others(20): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26791068 | CAAA | C | intron_variant | MODIFIER | HG01099.hp1 HG02622.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0347a0001c0001t0006g0348a0001c0001t0006g0349others(3): Show | 6 | 358 | 0.0168 | -3 | c.286 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26800004 | TAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(75): Show | 78 | 358 | 0.2179 | -3 | c.286 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar |