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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD2_chr15_89083456_89207355 | 89192509 | C | CT | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011a0001c0001t0008g0082a0001c0001t0008g0102others(2): Show | 5 | 234 | 0.0214 | 1 | c.997 others(8): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89193920 | C | CA | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(6): Show | 9 | 234 | 0.0385 | 1 | c.108 others(9): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89200662 | C | CA | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0007a0001c0002t0017a0001c0002t0023others(1): Show | a0001c0002t0007g0020a0001c0002t0007g0040a0001c0002t0007g0111others(5): Show | 8 | 234 | 0.0342 | 1 | c.*52 others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 11/11 | 5247 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
ABHD2_chr15_89083456_89207355 | 89200729 | G | GA | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02572.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018a0001c0001t0035others(2): Show | a0001c0001t0004g0003a0001c0001t0004g0013a0001c0001t0004g0016others(13): Show | 16 | 234 | 0.0684 | 1 | c.*53 others(6): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 11/11 | 5317 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
ABHD2_chr15_89083456_89207355 | 89203286 | C | CA | downstream_gene_variant | MODIFIER | HG01258.hp1 HG02559.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0002g0094a0001c0001t0006g0157a0001c0001t0006g0165others(7): Show | 10 | 234 | 0.0427 | 1 | c.*78 others(12): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 932 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205331 | C | CT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG00741.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0029others(44): Show | 47 | 234 | 0.2009 | 1 | c.*99 others(12): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2977 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89206003 | A | AG | downstream_gene_variant | MODIFIER | HG01256.hp2 HG02145.hp2 NA18612.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0036a0001c0002t0007others(1): Show | a0001c0001t0002g0039a0001c0001t0002g0214a0001c0001t0002g0222others(3): Show | 6 | 234 | 0.0256 | 1 | c.*10 others(14): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3649 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89206662 | A | AC | downstream_gene_variant | MODIFIER | HG02738.hp1 NA19005.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0007 | a0001c0001t0002g0055a0001c0001t0005g0125a0001c0002t0007g0020 | 3 | 234 | 0.0128 | 1 | c.*11 others(14): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 4308 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21646305 | C | CA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(299): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(286): Show | 302 | 304 | 0.9934 | 1 | c.*52 others(12): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4595 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21647540 | C | CG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00621.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0001a0001c0001t0001g0023a0001c0001t0001g0026others(8): Show | 11 | 304 | 0.0362 | 1 | c.*40 others(12): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3360 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21648788 | C | CA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(120): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0019others(119): Show | 123 | 304 | 0.4046 | 1 | c.*28 others(12): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2112 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21649937 | C | CA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01069.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0016others(23): Show | 26 | 304 | 0.0855 | 1 | c.*16 others(12): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 963 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21653052 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01106.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0016others(11): Show | 14 | 304 | 0.0461 | 1 | c.105 others(10): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21655284 | G | GT | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01928.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0019others(15): Show | 18 | 304 | 0.0592 | 1 | c.105 others(10): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21658838 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG02015.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0055a0001c0001t0001g0064others(9): Show | 12 | 304 | 0.0395 | 1 | c.842 others(8): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 6/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21659962 | C | CT | intron_variant | MODIFIER | HG00735.hp1 HG01928.hp1 HG02015.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028a0001c0001t0001g0064a0001c0001t0001g0069others(5): Show | 8 | 304 | 0.0263 | 1 | c.669 others(8): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21661102 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00621.hp1 others(137): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0031others(137): Show | 140 | 304 | 0.4605 | 1 | c.669 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21667077 | A | AT | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG02683.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0042a0001c0001t0001g0124a0001c0001t0001g0129others(4): Show | 7 | 304 | 0.0230 | 1 | c.556 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21667098 | A | AG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(190): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004a0001c0001t0001g0036a0001c0001t0001g0037others(188): Show | 193 | 304 | 0.6349 | 1 | c.556 others(18): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21667234 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00735.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(17): Show | 20 | 304 | 0.0658 | 1 | c.556 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21668200 | C | CA | intron_variant | MODIFIER | HG01261.hp1 HG01928.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0030others(3): Show | 6 | 304 | 0.0197 | 1 | c.556 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21672864 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(190): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004a0001c0001t0001g0036a0001c0001t0001g0037others(188): Show | 193 | 304 | 0.6349 | 1 | c.556 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21675262 | G | GT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(19): Show | 22 | 304 | 0.0724 | 1 | c.555 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21684311 | C | CT | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01261.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0020others(18): Show | 21 | 304 | 0.0691 | 1 | c.510 others(8): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21687384 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(153): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0038others(152): Show | 156 | 304 | 0.5132 | 1 | c.510 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21689549 | C | CA | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01123.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0083others(9): Show | 12 | 304 | 0.0395 | 1 | c.510 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21690295 | T | TA | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG01257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146a0001c0001t0002g0148a0001c0001t0002g0166others(5): Show | 8 | 304 | 0.0263 | 1 | c.510 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21690996 | C | CA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01074.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0016others(18): Show | 21 | 304 | 0.0691 | 1 | c.510 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21696146 | G | GT | intron_variant | MODIFIER | HG01081.hp2 HG01952.hp1 HG01975.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0014a0001c0001t0002g0146a0001c0001t0002g0169others(9): Show | 12 | 304 | 0.0395 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21696755 | T | TG | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG02257.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0234a0001c0001t0002g0235a0001c0001t0002g0236others(20): Show | 23 | 304 | 0.0757 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21697074 | C | CT | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG02257.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0047a0001c0001t0001g0048others(31): Show | 34 | 304 | 0.1118 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21698191 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0107a0001c0001t0001g0108others(25): Show | 29 | 304 | 0.0954 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21698939 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0040a0001c0001t0001g0107others(51): Show | 55 | 304 | 0.1809 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700827 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00621.hp1 others(96): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0027others(95): Show | 99 | 304 | 0.3257 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700952 | C | CA | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01928.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0101others(11): Show | 14 | 304 | 0.0461 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21701212 | C | CT | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG02257.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0234a0001c0001t0002g0235a0001c0001t0002g0236others(19): Show | 22 | 304 | 0.0724 | 1 | c.509 others(9): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21703218 | A | AC | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(71): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(65): Show | 74 | 304 | 0.2434 | 1 | c.326 others(8): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2/8 | chr18 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22596096 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(111): Show | 221 | 424 | 0.5212 | 1 | c.-22 others(12): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 2203 | chr14 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22596746 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(137): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0018others(65): Show | 140 | 424 | 0.3302 | 1 | c.-15 others(12): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1553 | chr14 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22604564 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0018a0001c0001t0001g0021a0001c0001t0001g0026others(112): Show | 233 | 424 | 0.5495 | 1 | c.640 others(8): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD4_chr14_22593300_22617963 | 22610063 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(127): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0079a0001c0001t0002g0003a0001c0001t0002g0004others(55): Show | 130 | 424 | 0.3066 | 1 | c.939 others(8): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD4_chr14_22593300_22617963 | 22613125 | T | TA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00673.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0032others(39): Show | 78 | 424 | 0.1840 | 1 | c.*21 others(12): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 163 | chr14 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22614760 | C | CT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01358.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0032others(9): Show | 16 | 424 | 0.0377 | 1 | c.*38 others(12): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1798 | chr14 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43687003 | A | AT | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0052a0001c0001t0002g0038a0001c0001t0002g0128others(3): Show | 6 | 286 | 0.0210 | 1 | c.-39 others(12): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3934 | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43690060 | C | CT | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01169.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0141a0001c0001t0002g0040a0001c0001t0004g0017others(4): Show | 12 | 286 | 0.0420 | 1 | c.-93 others(10): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 877 | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43693750 | C | CT | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02109.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0033others(1): Show | a0001c0001t0002g0007a0001c0001t0002g0035a0001c0001t0002g0036others(10): Show | 18 | 286 | 0.0629 | 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 | C | CA | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 HG01952.hp1 others(23): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0063others(23): Show | 26 | 286 | 0.0909 | 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 | 43696906 | T | TA | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 HG01952.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0018a0001c0002t0038 | a0001c0002t0005g0152a0001c0002t0005g0153a0001c0002t0005g0154others(9): Show | 12 | 286 | 0.0420 | 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 | 43703182 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(233): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(168): Show | 236 | 286 | 0.8252 | 1 | c.506 others(8): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43704033 | C | CT | intron_variant | MODIFIER | HG01346.hp1 HG02922.hp1 HG03130.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0003g0168others(5): Show | 8 | 286 | 0.0280 | 1 | c.506 others(9): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |