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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACA_chr17_37079992_37411836 | 37390274 | A | ACAT | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0051a0001c0001t0003g0052a0001c0001t0003g0081others(1): Show | 4 | 299 | 0.0134 | 3 | c.38+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133864 | T | TATA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01081.hp2 others(5): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0038others(3): Show | a0001c0002t0001a0001c0003t0002a0001c0038t0001others(3): Show | a0001c0002t0001g0081a0001c0002t0001g0098a0001c0003t0002g0097others(5): Show | 8 | 308 | 0.0260 | 3 | c.-9- others(18): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109140890 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(57): Show |
a0001a0002a0003others(14): Show | a0001c0010a0001c0012a0001c0013others(33): Show | a0001c0010t0002a0001c0012t0002a0001c0013t0001others(37): Show | a0001c0010t0002g0261a0001c0012t0002g0045a0001c0012t0002g0250others(57): Show | 60 | 308 | 0.1948 | 3 | c.653 others(18): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109143462 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG01069.hp1 HG01175.hp2 others(21): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0022others(12): Show | a0001c0002t0001a0001c0003t0002a0001c0022t0004others(12): Show | a0001c0002t0001g0035a0001c0002t0001g0114a0001c0002t0001g0235others(21): Show | 24 | 308 | 0.0779 | 3 | c.653 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109144750 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(68): Show |
a0001a0002a0003others(13): Show | a0001c0010a0001c0012a0001c0013others(37): Show | a0001c0010t0001a0001c0010t0002a0001c0010t0009others(44): Show | a0001c0010t0001g0188a0001c0010t0002g0261a0001c0010t0009g0186others(68): Show | 71 | 308 | 0.2305 | 3 | c.653 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109152641 | T | TTTC | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02056.hp1 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0012a0001c0109a0002c0020others(4): Show | a0001c0012t0002a0001c0109t0002a0002c0020t0003others(4): Show | a0001c0012t0002g0045a0001c0109t0002g0276a0002c0020t0003g0120others(5): Show | 8 | 308 | 0.0260 | 3 | c.653 others(22): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109157272 | G | GTTA | intron_variant | MODIFIER | HG01891.hp1 HG02071.hp2 HG02257.hp1 others(2): Show |
a0001a0002a0035 | a0001c0039a0001c0064a0001c0074others(2): Show | a0001c0039t0004a0001c0064t0009a0001c0074t0004others(2): Show | a0001c0039t0004g0116a0001c0064t0009g0184a0001c0074t0004g0229others(2): Show | 5 | 308 | 0.0162 | 3 | c.654 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109169142 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(200): Show |
a0001a0002a0003others(24): Show | a0001c0002a0001c0003a0001c0004others(76): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(94): Show | a0001c0002t0001g0035a0001c0002t0001g0075a0001c0002t0001g0081others(200): Show | 203 | 308 | 0.6591 | 3 | c.925 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109171013 | A | ATTT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG02027.hp2 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0029a0002c0006others(2): Show | a0001c0002t0001a0001c0002t0021a0001c0029t0002others(4): Show | a0001c0002t0001g0075a0001c0002t0001g0114a0001c0002t0001g0235others(6): Show | 9 | 308 | 0.0292 | 3 | c.926 others(18): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109181840 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(186): Show |
a0001a0002a0003others(21): Show | a0001c0002a0001c0003a0001c0012others(68): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(86): Show | a0001c0002t0001g0075a0001c0002t0001g0079a0001c0002t0001g0081others(186): Show | 189 | 308 | 0.6136 | 3 | c.181 others(22): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 11/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109194183 | T | TTTG | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02572.hp2 others(9): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0048others(7): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(8): Show | a0001c0002t0001g0282a0001c0002t0001g0283a0001c0003t0002g0103others(9): Show | 12 | 308 | 0.0390 | 3 | c.248 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109206428 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(52): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0010others(19): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0001others(23): Show | a0001c0002t0001g0075a0001c0002t0001g0079a0001c0002t0001g0091others(52): Show | 55 | 308 | 0.1786 | 3 | c.291 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109221894 | T | TTGG | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01261.hp2 others(37): Show |
a0001a0002a0006others(10): Show | a0001c0002a0001c0003a0001c0010others(27): Show | a0001c0002t0001a0001c0003t0004a0001c0010t0009others(29): Show | a0001c0002t0001g0282a0001c0002t0001g0283a0001c0003t0004g0074others(37): Show | 40 | 308 | 0.1299 | 3 | c.356 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 24/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109224532 | T | TTTA | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG00741.hp2 others(36): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0003t0004a0001c0010t0001others(25): Show | a0001c0002t0001g0075a0001c0002t0001g0079a0001c0002t0001g0091others(36): Show | 39 | 308 | 0.1266 | 3 | c.388 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 27/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109266905 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(79): Show |
a0001a0003a0004others(9): Show | a0001c0002a0001c0010a0001c0011others(27): Show | a0001c0002t0001a0001c0002t0021a0001c0010t0001others(28): Show | a0001c0002t0001g0035a0001c0002t0001g0075a0001c0002t0001g0079others(79): Show | 82 | 308 | 0.2662 | 3 | c.*55 others(12): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 53/53 | 561 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ACAD10_chr12_111681053_111762099 | 111704688 | C | CTTT | intron_variant | MODIFIER | HG03688.hp1 HG03927.hp2 NA18950.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0046others(6): Show | 9 | 336 | 0.0268 | 3 | c.337 others(20): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111718036 | C | CTTT | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02559.hp1 others(4): Show |
a0001a0007a0011 | a0001c0001a0007c0007a0011c0012 | a0001c0001t0001a0007c0007t0001a0011c0012t0001 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0187others(4): Show | 7 | 336 | 0.0208 | 3 | c.992 others(20): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD11_chr3_132553141_132664809 | 132566296 | C | CAAA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0001a0001c0008t0001a0003c0003t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0129others(5): Show | 8 | 316 | 0.0253 | 3 | c.200 others(22): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 17/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132568801 | C | CAAA | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02258.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0007a0001c0001t0001g0128a0001c0001t0001g0161others(12): Show | 16 | 316 | 0.0506 | 3 | c.200 others(22): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 17/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641546 | A | AATG | intron_variant | MODIFIER | HG02717.hp2 HG03540.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0131 | 3 | 316 | 0.0095 | 3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641560 | T | TGAA | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01081.hp1 others(34): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0023a0001c0001t0001g0024others(33): Show | 37 | 316 | 0.1171 | 3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641638 | A | AGAG | intron_variant | MODIFIER | HG00673.hp2 HG02083.hp2 HG02165.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0135a0001c0001t0002g0281others(7): Show | 11 | 316 | 0.0348 | 3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641698 | G | GGAA | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(13): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0011 | a0001c0001t0001a0001c0004t0002a0008c0011t0001 | a0001c0001t0001g0034a0001c0001t0001g0036a0001c0001t0001g0037others(13): Show | 16 | 316 | 0.0506 | 3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641701 | A | AGAG | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG01106.hp2 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0006t0004a0002c0002t0001others(5): Show | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0006t0004g0179others(31): Show | 37 | 316 | 0.1171 | 3 | c.537 others(18): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128895720 | T | TCTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(264): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(15): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0016others(190): Show | 267 | 372 | 0.7177 | 3 | c.453 others(18): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACADL_chr2_210182923_210230447 | 210221069 | T | TAAC | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0133others(4): Show | 9 | 274 | 0.0329 | 3 | c.78- others(16): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75725263 | A | ACCT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0262a0001c0001t0001g0263a0001c0001t0001g0264others(65): Show | 68 | 364 | 0.1868 | 3 | c.30+ others(16): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75725417 | G | GTTA | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235a0001c0001t0002g0236a0001c0001t0002g0237others(5): Show | 8 | 364 | 0.0220 | 3 | c.30+ others(16): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75726366 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(209): Show | 212 | 364 | 0.5824 | 3 | c.30+ others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75729455 | G | GTTT | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01192.hp2 others(30): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0246a0001c0001t0001g0247a0001c0001t0001g0248others(30): Show | 33 | 364 | 0.0907 | 3 | c.118 others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75729885 | A | ATTT | intron_variant | MODIFIER | HG01074.hp1 HG02145.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0250a0001c0001t0001g0258a0001c0001t0001g0259others(4): Show | 7 | 364 | 0.0192 | 3 | c.118 others(20): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75735319 | C | CAAA | intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 HG04199.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0030others(5): Show | 8 | 364 | 0.0220 | 3 | c.468 others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75737279 | A | AATT | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250a0001c0001t0001g0258a0001c0001t0001g0262 | 3 | 364 | 0.0082 | 3 | c.468 others(20): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75738223 | G | GTTA | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0285a0001c0001t0001g0286a0001c0001t0001g0287others(59): Show | 62 | 364 | 0.1703 | 3 | c.469 others(20): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75760264 | C | CAAA | intron_variant | MODIFIER | HG02135.hp2 HG02300.hp1 HG03491.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0055others(5): Show | 8 | 364 | 0.0220 | 3 | c.946 others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75760544 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01081.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0018others(39): Show | 42 | 364 | 0.1154 | 3 | c.946 others(18): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75767339 | C | CTTT | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02738.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0262a0001c0001t0002g0237a0001c0001t0002g0238others(4): Show | 7 | 364 | 0.0192 | 3 | c.*45 others(14): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 3661 | chr1 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123045157 | A | ATTT | intron_variant | MODIFIER | HG00741.hp1 NA18941.hp2 NA18947.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007a0001c0002t0028 | a0001c0002t0002g0016a0001c0002t0002g0066a0001c0002t0007g0063others(1): Show | 5 | 374 | 0.0134 | 3 | c.900 others(18): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123045161 | A | ATTT | intron_variant | MODIFIER | HG03654.hp2 HG03688.hp1 NA19077.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0127a0001c0002t0002g0307a0001c0002t0008g0080 | 3 | 374 | 0.0080 | 3 | c.900 others(18): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123045165 | A | ATTT | intron_variant | MODIFIER | HG03017.hp2 HG03688.hp2 HG03831.hp1 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0002a0001c0002t0008a0001c0017t0002 | a0001c0002t0002g0134a0001c0002t0008g0069a0001c0017t0002g0123 | 3 | 374 | 0.0080 | 3 | c.900 others(18): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACADS_chr12_120720826_120745008 | 120734753 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00738.hp1 others(79): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0004a0002c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0039others(54): Show | 82 | 426 | 0.1925 | 3 | c.211 others(20): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88819600 | C | CAAA | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01192.hp1 others(13): Show |
a0003a0008a0010others(12): Show | a0003c0011a0008c0007a0010c0009others(12): Show | a0003c0011t0001a0008c0007t0001a0010c0009t0001others(12): Show | a0003c0011t0001g0096a0008c0007t0001g0066a0010c0009t0001g0004others(12): Show | 16 | 368 | 0.0435 | 3 | c.-8+ others(20): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88829118 | T | TTTA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(161): Show |
a0001a0002a0003others(83): Show | a0001c0002a0001c0015a0001c0025others(103): Show | a0001c0002t0001a0001c0015t0001a0001c0025t0001others(108): Show | a0001c0002t0001g0101a0001c0002t0001g0116a0001c0002t0001g0117others(157): Show | 164 | 368 | 0.4457 | 3 | c.-7- others(18): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88832106 | T | TTTG | intron_variant | MODIFIER | HG03710.hp2 HG03942.hp1 HG04199.hp1 others(4): Show |
a0002a0005a0007others(3): Show | a0002c0132a0005c0004a0005c0035others(4): Show | a0002c0132t0001a0005c0004t0001a0005c0035t0001others(4): Show | a0002c0132t0001g0092a0005c0004t0001g0089a0005c0035t0001g0191others(4): Show | 7 | 368 | 0.0190 | 3 | c.-7- others(18): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88833735 | T | TCTC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(229): Show |
a0001a0002a0003others(115): Show | a0001c0002a0001c0015a0001c0025others(144): Show | a0001c0002t0001a0001c0015t0001a0001c0025t0001others(151): Show | a0001c0002t0001g0101a0001c0002t0001g0116a0001c0002t0001g0117others(225): Show | 232 | 368 | 0.6304 | 3 | c.-7- others(18): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88840786 | T | TAAA | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(13): Show |
a0010a0017a0038others(7): Show | a0010c0009a0017c0012a0038c0055others(8): Show | a0010c0009t0001a0017c0012t0001a0038c0055t0001others(9): Show | a0010c0009t0001g0004a0010c0009t0001g0262a0010c0009t0001g0323others(12): Show | 16 | 368 | 0.0435 | 3 | c.629 others(18): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88868052 | G | GGCA | intron_variant | MODIFIER | HG02109.hp2 HG02965.hp2 HG03139.hp2 others(1): Show |
a0017a0023a0043others(1): Show | a0017c0012a0023c0038a0043c0033others(1): Show | a0017c0012t0001a0023c0038t0001a0043c0033t0001others(1): Show | a0017c0012t0001g0145a0023c0038t0001g0046a0043c0033t0001g0157others(1): Show | 4 | 368 | 0.0109 | 3 | c.694 others(20): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAP2_chr3_195269745_195448020 | 195277793 | C | CAAT | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG02109.hp1 HG02615.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0034 | a0001c0001t0006g0091a0001c0001t0006g0092a0001c0001t0006g0093others(13): Show | 16 | 324 | 0.0494 | 3 | c.*15 others(14): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 23/23 | 1534 | chr3 | TogoVar | |||||
ACAP2_chr3_195269745_195448020 | 195290853 | A | AAAT | intron_variant | MODIFIER | HG00408.hp1 HG03209.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0094a0001c0001t0006g0095a0001c0001t0006g0097 | 3 | 324 | 0.0093 | 3 | c.206 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195292921 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(92): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0146a0001c0001t0001g0169a0001c0001t0001g0171others(92): Show | 95 | 324 | 0.2932 | 3 | c.176 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar |