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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD5_chr3_43685938_43727725 | 43713322 | C | CA | intron_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG01934.hp1 others(14): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0020a0001c0001t0001g0068a0001c0001t0001g0078others(13): Show | 17 | 286 | 0.0594 | 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 | C | CT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01884.hp1 others(14): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0078a0001c0001t0002g0128a0001c0001t0004g0017others(7): Show | 17 | 286 | 0.0594 | 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 | 43714580 | G | GT | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0034a0001c0001t0002g0035others(5): Show | 11 | 286 | 0.0385 | 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 | 43720290 | A | AG | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0011others(30): Show | 55 | 286 | 0.1923 | 1 | c.*17 others(12): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 7/7 | 1759 | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43721562 | C | CA | 3_prime_UTR_variant | MODIFIER | HG01952.hp2 HG02071.hp2 HG02523.hp1 others(7): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0009a0001c0001t0010a0001c0001t0017others(1): Show | a0001c0001t0009g0024a0001c0001t0009g0048a0001c0001t0009g0056others(6): Show | 10 | 286 | 0.0350 | 1 | c.*30 others(6): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 7/7 | 3052 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ABHD5_chr3_43685938_43727725 | 43725848 | G | GT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01167.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0002a0001c0001t0004g0017a0001c0001t0004g0025others(10): Show | 24 | 286 | 0.0839 | 1 | c.*73 others(12): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3124 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58239987 | C | CA | intron_variant | MODIFIER | HG01934.hp2 HG02080.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017a0001c0001t0002g0073a0001c0001t0002g0074others(3): Show | 6 | 302 | 0.0199 | 1 | c.-91 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58240731 | A | AT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(80): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0056a0001c0001t0001g0085others(79): Show | 83 | 302 | 0.2748 | 1 | c.-91 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58247039 | C | CT | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0019others(6): Show | 9 | 302 | 0.0298 | 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 | 58251090 | C | CG | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0013a0001c0001t0001g0154a0001c0001t0001g0258others(10): Show | 13 | 302 | 0.0431 | 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 | 58251315 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(169): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(163): Show | 172 | 302 | 0.5695 | 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 | 58252229 | G | GT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(80): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0063a0001c0001t0001g0135others(79): Show | 83 | 302 | 0.2748 | 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 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(122): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(116): Show | 125 | 302 | 0.4139 | 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 | 58258641 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01106.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0185a0001c0001t0001g0284a0001c0001t0001g0285others(22): Show | 27 | 302 | 0.0894 | 1 | c.119 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58261302 | C | CA | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG01934.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0013a0001c0001t0001g0154a0001c0001t0001g0258others(11): Show | 14 | 302 | 0.0464 | 1 | c.119 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58263974 | G | GT | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01106.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0185a0001c0001t0001g0284a0001c0001t0001g0285others(22): Show | 27 | 302 | 0.0894 | 1 | c.120 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58265003 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(152): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0013a0001c0001t0001g0135a0001c0001t0001g0154others(149): Show | 155 | 302 | 0.5133 | 1 | c.120 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58266464 | C | CA | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG01943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0063a0001c0001t0005g0166a0001c0001t0005g0167others(3): Show | 6 | 302 | 0.0199 | 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 | 58270503 | C | CA | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG01099.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0001g0062others(58): Show | 63 | 302 | 0.2086 | 1 | c.391 others(8): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58271766 | G | GT | intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01081.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0070a0001c0001t0001g0180a0001c0001t0004g0001others(12): Show | 16 | 302 | 0.0530 | 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 | 58273886 | T | TA | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0239a0001c0001t0008g0240a0001c0001t0008g0259others(1): Show | 4 | 302 | 0.0133 | 1 | c.524 others(8): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58275330 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(149): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(143): Show | 152 | 302 | 0.5033 | 1 | c.681 others(8): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58289228 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 1 | c.837 others(9): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58289868 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00735.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(18): Show | 21 | 302 | 0.0695 | 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 | 58289875 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(136): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(130): Show | 139 | 302 | 0.4603 | 1 | c.838 others(18): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58291201 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 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 | 58294414 | G | GA | 3_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0239a0001c0001t0008g0240a0001c0001t0008g0249others(3): Show | 6 | 302 | 0.0199 | 1 | c.*65 others(5): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | 652 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ABHD6_chr3_58232792_58299734 | 58297740 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(85): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011others(82): Show | 88 | 302 | 0.2914 | 1 | c.*39 others(12): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3007 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58297945 | C | CA | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG02055.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0013 | a0001c0001t0001g0007a0001c0001t0001g0190a0001c0001t0001g0192others(15): Show | 19 | 302 | 0.0629 | 1 | c.*41 others(12): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3212 | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17290200 | G | GA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp2 others(42): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0003 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(30): Show | 45 | 386 | 0.1166 | 1 | c.*24 others(12): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1930 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17292200 | T | TC | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG01099.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0005g0020a0001c0001t0005g0022a0001c0001t0005g0087others(44): Show | 49 | 386 | 0.1269 | 1 | c.*46 others(5): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 5/5 | 460 | chr19 | TogoVar | |||||
ABHD8_chr19_17287131_17308425 | 17293098 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(91): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0015others(71): Show | 94 | 386 | 0.2435 | 1 | c.115 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17293456 | T | TG | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0036a0001c0001t0001g0194a0001c0001t0001g0203others(19): Show | 23 | 386 | 0.0596 | 1 | c.115 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17295090 | A | AT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0014others(46): Show | 63 | 386 | 0.1632 | 1 | c.762 others(8): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17296695 | G | GT | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0003others(4): Show | a0001c0001t0001g0195a0001c0001t0001g0199a0001c0001t0001g0214others(18): Show | 21 | 386 | 0.0544 | 1 | c.762 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17297744 | C | CT | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0005a0001c0006t0005 | a0001c0001t0002g0123a0001c0001t0002g0127a0001c0001t0002g0129others(8): Show | 13 | 386 | 0.0337 | 1 | c.762 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17297917 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(108): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(82): Show | 111 | 386 | 0.2876 | 1 | c.761 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17298735 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0025others(29): Show | 40 | 386 | 0.1036 | 1 | c.761 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17299234 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(85): Show | 118 | 386 | 0.3057 | 1 | c.761 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17299560 | C | CA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00673.hp1 others(64): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0016a0001c0001t0001g0035a0001c0001t0001g0036others(58): Show | 67 | 386 | 0.1736 | 1 | c.761 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17299757 | A | AT | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01099.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0030a0001c0001t0001g0037a0001c0001t0001g0224others(9): Show | 14 | 386 | 0.0363 | 1 | c.761 others(9): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17299904 | C | CT | intron_variant | MODIFIER | HG01981.hp2 HG02647.hp1 HG02895.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0009 | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0002g0123a0001c0001t0004g0122a0002c0002t0002g0152others(6): Show | 9 | 386 | 0.0233 | 1 | c.761 others(8): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17305241 | C | CT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0004t0009others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0011others(10): Show | 15 | 386 | 0.0389 | 1 | c.-20 others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1817 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17306862 | C | CT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0003a0001c0003t0007others(2): Show | a0001c0001t0001g0014a0001c0003t0003g0064a0001c0003t0003g0065others(11): Show | 14 | 386 | 0.0363 | 1 | c.-36 others(6): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 3438 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26742795 | C | CT | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG01361.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0227a0001c0001t0001g0240a0001c0001t0001g0275others(32): Show | 35 | 358 | 0.0978 | 1 | c.*57 others(6): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3800 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26749228 | A | AT | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG02135.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0011a0001c0001t0003g0285a0001c0001t0003g0286others(29): Show | 32 | 358 | 0.0894 | 1 | c.127 others(9): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 10/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26752605 | T | TA | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG01361.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0275a0001c0001t0003g0321a0001c0001t0003g0328others(28): Show | 31 | 358 | 0.0866 | 1 | c.108 others(9): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26754950 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0004g0075a0001c0001t0004g0077a0001c0001t0004g0078others(28): Show | 31 | 358 | 0.0866 | 1 | c.108 others(9): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26757418 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(237): Show | 240 | 358 | 0.6704 | 1 | c.997 others(9): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26758068 | C | CA | intron_variant | MODIFIER | HG01358.hp2 HG02145.hp2 HG02698.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0017 | a0001c0001t0002g0146a0001c0001t0002g0166a0001c0001t0002g0175others(11): Show | 14 | 358 | 0.0391 | 1 | c.997 others(8): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 8/10 | chr10 | TogoVar |