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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACB_chr12_109111587_109273226 | 109210250 | C | CATGT | intron_variant | MODIFIER | HG00323.hp1 HG02257.hp1 HG02523.hp1 others(11): Show |
a0001a0006a0007others(2): Show | a0001c0039a0001c0095a0001c0107others(6): Show | a0001c0039t0004a0001c0095t0001a0001c0107t0012others(8): Show | a0001c0039t0004g0039a0001c0039t0004g0116a0001c0095t0001g0133others(11): Show | 14 | 308 | 0.0455 | 4 | c.324 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210255 | A | ATATC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(58): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0001c0004others(34): Show | a0001c0002t0001a0001c0002t0021a0001c0003t0002others(38): Show | a0001c0002t0001g0081a0001c0002t0001g0098a0001c0002t0001g0109others(58): Show | 61 | 308 | 0.1981 | 4 | c.324 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210265 | A | ATATG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(71): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0003a0001c0010others(32): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0002others(37): Show | a0001c0002t0001g0035a0001c0002t0001g0075a0001c0002t0001g0079others(71): Show | 74 | 308 | 0.2403 | 4 | c.324 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210297 | A | ATATG | intron_variant | MODIFIER | HG00323.hp1 HG01261.hp2 HG01891.hp1 others(21): Show |
a0001a0002a0004others(8): Show | a0001c0039a0001c0069a0001c0074others(16): Show | a0001c0039t0004a0001c0069t0002a0001c0074t0004others(18): Show | a0001c0039t0004g0039a0001c0039t0004g0116a0001c0069t0002g0204others(21): Show | 24 | 308 | 0.0779 | 4 | c.324 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210315 | A | ATGTG | intron_variant | MODIFIER | HG00323.hp1 HG01891.hp1 HG02257.hp1 others(17): Show |
a0001a0002a0006others(4): Show | a0001c0039a0001c0069a0001c0074others(12): Show | a0001c0039t0004a0001c0069t0002a0001c0074t0004others(14): Show | a0001c0039t0004g0039a0001c0039t0004g0116a0001c0069t0002g0204others(17): Show | 20 | 308 | 0.0649 | 4 | c.324 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210331 | G | GTGTA | intron_variant | MODIFIER | HG00280.hp2 HG02723.hp2 HG03669.hp1 others(1): Show |
a0001a0002 | a0001c0010a0001c0011a0001c0013others(1): Show | a0001c0010t0001a0001c0011t0001a0001c0013t0001others(1): Show | a0001c0010t0001g0188a0001c0011t0001g0013a0001c0013t0001g0256others(1): Show | 4 | 308 | 0.0130 | 4 | c.324 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210383 | A | ATATC | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG03831.hp1 |
a0002a0006 | a0002c0006a0002c0017a0006c0120 | a0002c0006t0003a0002c0017t0003a0006c0120t0003 | a0002c0006t0003g0092a0002c0017t0003g0025a0006c0120t0003g0043 | 3 | 308 | 0.0097 | 4 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109218367 | A | AGTTT | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01081.hp1 others(19): Show |
a0001a0002a0006others(6): Show | a0001c0002a0001c0003a0001c0023others(13): Show | a0001c0002t0001a0001c0002t0008a0001c0003t0002others(16): Show | a0001c0002t0001g0126a0001c0002t0008g0306a0001c0003t0002g0097others(19): Show | 22 | 308 | 0.0714 | 4 | c.356 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 24/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109222294 | C | CGAGT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG02257.hp1 others(10): Show |
a0001a0006a0030 | a0001c0011a0001c0039a0001c0095others(5): Show | a0001c0011t0001a0001c0039t0004a0001c0095t0001others(7): Show | a0001c0011t0001g0008a0001c0039t0004g0039a0001c0039t0004g0116others(10): Show | 13 | 308 | 0.0422 | 4 | c.356 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 24/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109243889 | A | ATATT | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02717.hp1 others(3): Show |
a0001a0002a0014 | a0001c0010a0001c0016a0002c0118others(1): Show | a0001c0010t0009a0001c0016t0009a0002c0118t0005others(1): Show | a0001c0010t0009g0186a0001c0016t0009g0287a0001c0016t0009g0290others(3): Show | 6 | 308 | 0.0195 | 4 | c.517 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109255095 | T | TACAC | intron_variant | MODIFIER | HG03098.hp2 HG03195.hp1 HG03225.hp2 |
a0033a0035a0039 | a0033c0063a0035c0076a0039c0080 | a0033c0063t0010a0035c0076t0010a0039c0080t0010 | a0033c0063t0010g0117a0035c0076t0010g0267a0039c0080t0010g0071 | 3 | 308 | 0.0097 | 4 | c.616 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TTATA | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG02523.hp1 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0016a0001c0069others(7): Show | a0001c0003t0002a0001c0016t0011a0001c0069t0002others(8): Show | a0001c0003t0002g0103a0001c0016t0011g0274a0001c0069t0002g0204others(10): Show | 13 | 308 | 0.0422 | 4 | c.678 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109266905 | A | ATTTT | 3_prime_UTR_variant | MODIFIER | HG02074.hp1 NA18970.hp1 NA18974.hp2 others(3): Show |
a0001a0003a0004 | a0001c0002a0001c0011a0003c0001others(1): Show | a0001c0002t0008a0001c0011t0008a0003c0001t0008others(1): Show | a0001c0002t0008g0306a0001c0011t0008g0018a0003c0001t0008g0128others(3): Show | 6 | 308 | 0.0195 | 4 | c.*55 others(13): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 53/53 | 561 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ACAD10_chr12_111681053_111762099 | 111704664 | T | TTTTC | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG03927.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0013a0001c0001t0001g0242a0001c0006t0001g0198 | 3 | 336 | 0.0089 | 4 | c.337 others(21): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111718036 | C | CTTTT | intron_variant | MODIFIER | HG02886.hp1 HG03098.hp1 HG03453.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0186a0001c0001t0001g0188others(4): Show | 8 | 336 | 0.0238 | 4 | c.992 others(21): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111722369 | C | CTATT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01071.hp2 others(98): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0004c0005t0002others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0042others(93): Show | 101 | 336 | 0.3006 | 4 | c.106 others(21): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111752608 | T | TCAAA | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0318a0002c0003t0003g0319a0002c0003t0003g0320others(5): Show | 8 | 336 | 0.0238 | 4 | c.281 others(23): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111761291 | T | TTGTG | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02976.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0165a0001c0001t0001g0191a0001c0001t0001g0205others(2): Show | 5 | 336 | 0.0149 | 4 | c.*48 others(15): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 4193 | chr12 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132588192 | G | GGTAT | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01069.hp1 others(23): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0037a0001c0001t0001g0038others(20): Show | 26 | 316 | 0.0823 | 4 | c.162 others(23): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 13/19 | chr3 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128879647 | C | CTAAG | 5_prime_UTR_variant | MODIFIER | HG02040.hp2 HG02055.hp2 HG02056.hp2 others(29): Show |
a0001a0004a0008 | a0001c0003a0001c0004a0001c0012others(3): Show | a0001c0003t0004a0001c0003t0005a0001c0004t0004others(4): Show | a0001c0003t0004g0050a0001c0003t0004g0054a0001c0003t0004g0061others(26): Show | 32 | 372 | 0.0860 | 4 | c.-44 others(11): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 1/18 | 40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACAD9_chr3_128874620_128918114 | 128887644 | A | AATAT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01167.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0178others(5): Show | 14 | 372 | 0.0376 | 4 | c.244 others(21): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128899522 | C | CCGTG | intron_variant | MODIFIER | HG02258.hp2 HG02970.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0037a0001c0003t0005g0191a0001c0003t0005g0192 | 4 | 372 | 0.0108 | 4 | c.808 others(17): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128899523 | G | GGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00642.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0001g0216a0001c0001t0001g0242a0001c0002t0002g0005others(30): Show | 45 | 372 | 0.1210 | 4 | c.808 others(18): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128910662 | C | CTGAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(132): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0002a0001c0002t0007a0001c0002t0008others(1): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0005others(90): Show | 135 | 372 | 0.3629 | 4 | c.169 others(19): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128911045 | G | GTGTA | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006 | a0001c0001t0001g0209a0001c0003t0006g0045 | 3 | 372 | 0.0081 | 4 | c.176 others(21): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACADL_chr2_210182923_210230447 | 210184989 | G | GACAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01256.hp1 HG01891.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(9): Show | 12 | 274 | 0.0438 | 4 | c.*39 others(15): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 2933 | chr2 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210214467 | A | AAAAG | intron_variant | MODIFIER | HG01943.hp2 HG02451.hp1 HG03579.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0051a0001c0001t0001g0081others(3): Show | 6 | 274 | 0.0219 | 4 | c.536 others(21): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75725263 | A | AACCT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01192.hp2 others(22): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0002t0001a0006c0008t0001 | a0001c0001t0001g0246a0001c0001t0001g0247a0001c0001t0001g0248others(22): Show | 25 | 364 | 0.0687 | 4 | c.30+ others(17): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75726366 | C | CAAAA | intron_variant | MODIFIER | HG01255.hp1 HG02280.hp1 HG03540.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(4): Show | 7 | 364 | 0.0192 | 4 | c.30+ others(19): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75736173 | T | TACAC | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp1 HG01884.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0089a0001c0001t0001g0090others(21): Show | 24 | 364 | 0.0659 | 4 | c.468 others(21): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75737279 | A | AATAT | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01081.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0041others(28): Show | 31 | 364 | 0.0852 | 4 | c.468 others(21): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75737910 | A | ATATT | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG02723.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0311a0001c0002t0001g0313a0001c0002t0001g0314 | 3 | 364 | 0.0082 | 4 | c.469 others(21): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75747325 | T | TATAC | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02145.hp2 others(12): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0246a0001c0001t0001g0247a0001c0001t0001g0248others(12): Show | 15 | 364 | 0.0412 | 4 | c.708 others(21): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75756424 | C | CACAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(217): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(217): Show | 220 | 364 | 0.6044 | 4 | c.946 others(21): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75760544 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00733.hp1 others(24): Show |
a0001a0002a0006 | a0001c0001a0002c0006a0006c0008 | a0001c0001t0001a0001c0001t0002a0002c0006t0002others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0020others(24): Show | 27 | 364 | 0.0742 | 4 | c.946 others(19): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123025466 | A | AAAAT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00639.hp2 others(75): Show |
a0002a0003 | a0002c0003a0002c0010a0003c0004 | a0002c0003t0001a0002c0003t0003a0002c0003t0011others(16): Show | a0002c0003t0001g0007a0002c0003t0001g0027a0002c0003t0001g0028others(57): Show | 78 | 374 | 0.2086 | 4 | c.43- others(19): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123045167 | A | ATTTT | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02602.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0111a0001c0002t0002g0296a0001c0002t0002g0299others(2): Show | 5 | 374 | 0.0134 | 4 | c.900 others(19): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACADS_chr12_120720826_120745008 | 120734753 | A | ATTTT | intron_variant | MODIFIER | HG01943.hp1 HG03017.hp2 HG03710.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0037a0001c0001t0001g0063a0001c0001t0001g0064others(2): Show | 6 | 426 | 0.0141 | 4 | c.211 others(21): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88807747 | A | AGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(143): Show |
a0001a0002a0003others(65): Show | a0001c0002a0001c0014a0001c0015others(82): Show | a0001c0002t0001a0001c0014t0001a0001c0015t0001others(84): Show | a0001c0002t0001g0022a0001c0002t0001g0055a0001c0002t0001g0063others(139): Show | 146 | 368 | 0.3967 | 4 | c.-8+ others(19): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88840786 | T | TAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG03540.hp2 others(5): Show |
a0017a0032a0132others(1): Show | a0017c0012a0032c0182a0032c0184others(3): Show | a0017c0012t0001a0032c0182t0001a0032c0184t0001others(3): Show | a0017c0012t0001g0145a0017c0012t0001g0146a0017c0012t0001g0318others(5): Show | 8 | 368 | 0.0217 | 4 | c.629 others(19): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88853736 | T | TGATA | intron_variant | MODIFIER | NA18940.hp2 NA18955.hp1 NA19080.hp2 others(1): Show |
a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0186a0014c0016t0001g0187a0014c0016t0001g0188others(1): Show | 4 | 368 | 0.0109 | 4 | c.226 others(23): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88853749 | G | GATAC | intron_variant | MODIFIER | HG02027.hp2 HG02155.hp2 NA18981.hp1 others(1): Show |
a0031a0123a0124 | a0031c0030a0123c0088a0124c0089 | a0031c0030t0001a0123c0088t0001a0124c0089t0001 | a0031c0030t0001g0337a0031c0030t0001g0338a0123c0088t0001g0104others(1): Show | 4 | 368 | 0.0109 | 4 | c.226 others(23): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88853753 | G | GATAC | intron_variant | MODIFIER | HG00323.hp2 HG01496.hp1 HG02135.hp2 others(13): Show |
a0001a0004a0009others(8): Show | a0001c0002a0004c0005a0009c0013others(11): Show | a0001c0002t0001a0004c0005t0001a0009c0013t0001others(12): Show | a0001c0002t0001g0042a0004c0005t0001g0122a0009c0013t0001g0307others(13): Show | 16 | 368 | 0.0435 | 4 | c.226 others(23): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88860072 | C | CTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01515.hp2 others(23): Show |
a0004a0011a0014others(14): Show | a0004c0005a0011c0109a0014c0153others(14): Show | a0004c0005t0001a0011c0109t0001a0014c0153t0001others(14): Show | a0004c0005t0001g0025a0004c0005t0001g0034a0004c0005t0001g0062others(23): Show | 26 | 368 | 0.0707 | 4 | c.683 others(21): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAP1_chr17_7331529_7356477 | 7354528 | G | GGTGT | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02970.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0002g0062a0001c0002t0001g0030others(1): Show | 4 | 446 | 0.0090 | 4 | c.*31 others(15): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 3052 | chr17 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195290813 | A | AAAAT | intron_variant | MODIFIER | HG00438.hp1 HG02615.hp1 HG03942.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020 | a0001c0001t0001g0216a0001c0001t0001g0219a0001c0001t0001g0223others(3): Show | 6 | 324 | 0.0185 | 4 | c.206 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195290849 | T | TAATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0146a0001c0001t0001g0151a0001c0001t0001g0197others(102): Show | 105 | 324 | 0.3241 | 4 | c.206 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195292921 | C | CAAAA | intron_variant | MODIFIER | HG01433.hp2 HG02027.hp1 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0151a0001c0001t0002g0196a0001c0001t0002g0303others(4): Show | 7 | 324 | 0.0216 | 4 | c.176 others(21): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195298302 | C | CGCCT | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0026 | a0001c0003t0013g0206a0001c0003t0013g0208a0001c0003t0013g0209others(1): Show | 4 | 324 | 0.0124 | 4 | c.139 others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 15/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195299415 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(2): Show | a0001c0002t0001g0043a0001c0002t0004g0004a0001c0002t0004g0024others(35): Show | 38 | 324 | 0.1173 | 4 | c.139 others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 15/22 | chr3 | TogoVar |