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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD3_chr18_21645901_21709774 | 21700952 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(118): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0013others(117): Show | 121 | 304 | 0.3980 | -1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21703218 | AC | A | intron_variant | MODIFIER | HG01952.hp2 HG02451.hp1 HG02451.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0140a0001c0001t0002g0141a0001c0001t0002g0142others(13): Show | 16 | 304 | 0.0526 | -1 | c.326 others(8): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21709315 | CA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(283): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(270): Show | 286 | 304 | 0.9408 | -1 | c.-46 others(6): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4542 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21709664 | TG | T | upstream_gene_variant | MODIFIER | NA18941.hp2 NA18964.hp1 NA18979.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0055a0001c0001t0001g0056others(7): Show | 10 | 304 | 0.0329 | -1 | c.-50 others(6): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4891 | chr18 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22599799 | TC | T | intron_variant | MODIFIER | HG02027.hp2 HG02080.hp2 NA18988.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0094a0001c0001t0002g0042a0001c0001t0002g0168 | 4 | 424 | 0.0094 | -1 | c.23+ others(8): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD4_chr14_22593300_22617963 | 22609514 | TG | T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00741.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0032a0001c0001t0001g0045others(15): Show | 27 | 424 | 0.0637 | -1 | c.753 others(8): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD4_chr14_22593300_22617963 | 22614760 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(104): Show | 215 | 424 | 0.5071 | -1 | c.*38 others(6): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1798 | chr14 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22614782 | TC | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01255.hp2 HG02040.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 15 | 424 | 0.0354 | -1 | c.*38 others(6): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1820 | chr14 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43687003 | AT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(72): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0079a0001c0001t0003g0001others(50): Show | 75 | 286 | 0.2622 | -1 | c.-39 others(6): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3934 | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43690060 | CT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(82): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(17): Show | a0001c0001t0002g0007a0001c0001t0002g0041a0001c0001t0003g0001others(58): Show | 85 | 286 | 0.2972 | -1 | c.-93 others(5): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 877 | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43693750 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(174): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0011a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(123): Show | 177 | 286 | 0.6189 | -1 | c.47+ others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43694258 | CA | C | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp2 NA18951.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0108a0001c0001t0001g0109others(4): Show | 8 | 286 | 0.0280 | -1 | c.47+ others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43696627 | GA | G | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0037 | a0001c0001t0004g0057a0001c0001t0004g0135a0001c0001t0004g0136others(3): Show | 6 | 286 | 0.0210 | -1 | c.48- others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43700576 | AT | A | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(80): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(18): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0011others(57): Show | 83 | 286 | 0.2902 | -1 | c.133 others(9): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43704033 | CT | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp1 others(156): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0011a0004c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(113): Show | 159 | 286 | 0.5559 | -1 | c.506 others(9): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43713322 | CA | C | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG01255.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0070a0001c0001t0002g0129a0001c0001t0003g0045others(11): Show | 14 | 286 | 0.0490 | -1 | c.661 others(9): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43714137 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(55): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0072a0001c0001t0001g0079a0001c0001t0002g0133others(44): Show | 58 | 286 | 0.2028 | -1 | c.662 others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43717192 | CA | C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0030 | a0001c0001t0006g0030a0001c0001t0006g0148a0001c0001t0006g0149others(2): Show | 6 | 286 | 0.0210 | -1 | c.774 others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43721562 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(8): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0011others(43): Show | 68 | 286 | 0.2378 | -1 | c.*30 others(6): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 7/7 | 3051 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ABHD5_chr3_43685938_43727725 | 43723770 | CT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(74): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(15): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0011others(52): Show | 77 | 286 | 0.2692 | -1 | c.*52 others(6): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1046 | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43725848 | GT | G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(73): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(14): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0011others(51): Show | 76 | 286 | 0.2657 | -1 | c.*73 others(6): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3124 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58247039 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp1 others(114): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0135a0001c0001t0001g0154others(113): Show | 117 | 302 | 0.3874 | -1 | c.-90 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58253167 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(254): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(247): Show | 257 | 302 | 0.8510 | -1 | c.-26 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58255462 | CT | C | intron_variant | MODIFIER | HG00558.hp2 HG01167.hp1 HG01516.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0281a0001c0001t0002g0105a0001c0001t0002g0106others(7): Show | 10 | 302 | 0.0331 | -1 | c.-25 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58256345 | GT | G | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020others(4): Show | 7 | 302 | 0.0232 | -1 | c.-25 others(8): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58266432 | TA | T | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(96): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(92): Show | 99 | 302 | 0.3278 | -1 | c.120 others(8): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58271330 | AT | A | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0250a0001c0001t0001g0251a0001c0001t0001g0252others(4): Show | 7 | 302 | 0.0232 | -1 | c.523 others(8): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58271333 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(165): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(159): Show | 168 | 302 | 0.5563 | -1 | c.523 others(8): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58271766 | GT | G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01168.hp1 others(69): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0014others(67): Show | 72 | 302 | 0.2384 | -1 | c.523 others(8): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58279425 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(151): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(145): Show | 154 | 302 | 0.5099 | -1 | c.681 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58286025 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(259): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(252): Show | 262 | 302 | 0.8676 | -1 | c.837 others(8): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58289547 | GC | G | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0239a0001c0001t0008g0240a0001c0001t0008g0259others(1): Show | 4 | 302 | 0.0133 | -1 | c.838 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58289859 | AG | A | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0062a0001c0001t0001g0068others(2): Show | 5 | 302 | 0.0166 | -1 | c.838 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58291967 | CA | C | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0009a0001c0001t0003g0025others(12): Show | 17 | 302 | 0.0563 | -1 | c.838 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58298989 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(146): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(140): Show | 149 | 302 | 0.4934 | -1 | c.*52 others(6): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 4256 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58299365 | AT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(251): Show | 261 | 302 | 0.8642 | -1 | c.*56 others(6): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 4632 | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17287322 | TA | T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0002g0088a0001c0001t0002g0090a0001c0001t0002g0167others(4): Show | 7 | 386 | 0.0181 | -1 | c.*53 others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 4808 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17289410 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(62): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0031others(54): Show | 65 | 386 | 0.1684 | -1 | c.*32 others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2720 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17289585 | CG | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(73): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0232a0001c0001t0001g0233others(58): Show | 76 | 386 | 0.1969 | -1 | c.*30 others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2545 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17291286 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(64): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0002g0088a0001c0001t0002g0090a0001c0001t0002g0123others(57): Show | 67 | 386 | 0.1736 | -1 | c.*13 others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 844 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17293098 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(124): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0011a0001c0001t0001g0034a0001c0001t0001g0206others(103): Show | 127 | 386 | 0.3290 | -1 | c.115 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17293690 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(207): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(168): Show | 210 | 386 | 0.5440 | -1 | c.114 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17295090 | AT | A | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp1 HG01256.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0001c0001t0001g0231a0001c0001t0001g0265a0001c0001t0001g0274others(4): Show | 7 | 386 | 0.0181 | -1 | c.762 others(8): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17297744 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0027others(115): Show | 140 | 386 | 0.3627 | -1 | c.762 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17297917 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(66): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0221a0001c0001t0001g0236a0001c0001t0001g0259others(59): Show | 69 | 386 | 0.1788 | -1 | c.761 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17298735 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(164): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(125): Show | 167 | 386 | 0.4326 | -1 | c.761 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17299900 | GC | G | intron_variant | MODIFIER | HG01361.hp1 HG02486.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0001t0006a0001c0004t0009others(2): Show | a0001c0001t0001g0221a0001c0001t0006g0291a0001c0004t0009g0292others(3): Show | 6 | 386 | 0.0155 | -1 | c.761 others(8): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17299904 | CT | C | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01167.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003a0001c0003t0007others(1): Show | a0001c0001t0001g0182a0001c0001t0001g0274a0001c0003t0003g0008others(28): Show | 35 | 386 | 0.0907 | -1 | c.761 others(8): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17304789 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(73): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(11): Show | a0001c0001t0001g0190a0001c0001t0006g0291a0001c0001t0008g0009others(62): Show | 76 | 386 | 0.1969 | -1 | c.-15 others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1365 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17305241 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(63): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0190a0001c0001t0001g0255others(53): Show | 66 | 386 | 0.1710 | -1 | c.-20 others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1817 | chr19 | TogoVar |