view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABLIM2_chr4_7960327_8163813 | 7980941 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01952.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0262 a0001c0001t0002g0155 a0001c0001t0002g0245 others(7): Show |
10 | 93 | 0.1075 | 20 | c.182 others(39): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8139235 | A | AGGGAGGG others(13): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0007 | a0001c0001t0007g0132 a0001c0003t0007g0218 |
2 | 287 | 0.0070 | 20 | c.10+ others(37): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149170228 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03471.hp2 NA18978.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0198 a0001c0001t0004g0118 a0001c0001t0006g0034 others(1): Show |
4 | 74 | 0.0541 | 20 | c.14- others(37): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABRA_chr8_106754483_106775244 | 106758499 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 34 | 0.0294 | 20 | c.*25 others(31): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 983 | chr8 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 999323 | C | CTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 69 | 0.0145 | 20 | c.*67 others(31): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4195 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 999358 | T | TATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0016a0001c0003t0079 | a0001c0001t0008g0018 a0001c0003t0016g0230 a0001c0003t0079g0288 |
3 | 175 | 0.0171 | 20 | c.*67 others(31): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4160 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1025119 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 101 | 0.0099 | 20 | c.179 others(41): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1079788 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 7 | 0.1429 | 20 | c.640 others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34214139 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02630.hp2 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0061 a0001c0001t0001g0097 a0001c0001t0001g0143 others(2): Show |
5 | 28 | 0.1786 | 20 | c.884 others(37): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34325950 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(2): Show | a0001c0001t0001g0074 a0001c0001t0001g0141 a0001c0001t0007g0075 others(3): Show |
6 | 81 | 0.0741 | 20 | c.883 others(39): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107469920 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0016 | a0016c0028 | a0016c0028t0004 | a0016c0028t0004g0059 | 1 | 179 | 0.0056 | 20 | c.113 others(41): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107481883 | G | GTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03710.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0002c0002t0012 | a0001c0001t0021g0025 a0002c0002t0012g0177 |
2 | 18 | 0.1111 | 20 | c.113 others(41): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107608893 | T | TAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 |
a0003 | a0003c0006 | a0003c0006t0002a0003c0006t0005 | a0003c0006t0002g0139 a0003c0006t0005g0137 |
2 | 123 | 0.0163 | 20 | c.164 others(39): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107608968 | T | TATAAAAT others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0005 | a0004c0005t0009 | a0004c0005t0009g0097 | 1 | 104 | 0.0096 | 20 | c.164 others(39): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107648380 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01074.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0009a0002c0031others(4): Show | a0001c0003t0005a0002c0009t0003a0002c0031t0003others(4): Show | a0001c0003t0005g0135 a0002c0009t0003g0049 a0002c0031t0003g0051 others(4): Show |
7 | 49 | 0.1429 | 20 | c.292 others(37): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49801785 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01070.hp2 HG01106.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0030a0002c0002t0001others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0119 others(5): Show |
8 | 54 | 0.1481 | 20 | c.183 others(35): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37081323 | G | GGTGTGTG others(13): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0235 | 1 | 170 | 0.0059 | 20 | c.*59 others(31): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3668 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37112049 | A | ACTATCTA others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0003others(4): Show | a0001c0001t0001g0293 a0001c0001t0003g0052 a0001c0001t0003g0121 others(9): Show |
12 | 69 | 0.1739 | 20 | c.645 others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 51/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0005 | a0001c0003t0001g0209 a0001c0004t0005g0088 a0001c0004t0005g0090 others(4): Show |
7 | 89 | 0.0787 | 20 | c.508 others(39): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37173982 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 242 | 0.0041 | 20 | c.507 others(39): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18950.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0087 a0001c0002t0002g0011 |
2 | 100 | 0.0200 | 20 | c.507 others(39): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 99 | 0.0101 | 20 | c.507 others(39): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0001 | 1 | 99 | 0.0101 | 20 | c.507 others(39): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268725 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0118 | 1 | 222 | 0.0045 | 20 | c.111 others(39): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268741 | C | CTATCTAT others(13): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0008 | a0003c0008t0003 | a0003c0008t0003g0248 | 1 | 191 | 0.0052 | 20 | c.111 others(39): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37291143 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02257.hp1 HG02630.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0139 others(10): Show |
13 | 123 | 0.1057 | 20 | c.339 others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37316302 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 144 | 0.0069 | 20 | c.338 others(39): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37328661 | A | ACAGGATT others(13): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0299 | 1 | 298 | 0.0034 | 20 | c.338 others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01358.hp2 HG03516.hp2 NA19043.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0033a0001c0004t0032 | a0001c0002t0001g0103 a0001c0002t0033g0297 a0001c0004t0032g0298 |
3 | 43 | 0.0698 | 20 | c.38+ others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0042 | 1 | 41 | 0.0244 | 20 | c.38+ others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03491.hp1 NA18945.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0060 a0001c0002t0001g0056 a0001c0003t0001g0070 others(4): Show |
7 | 47 | 0.1489 | 20 | c.38+ others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390304 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0223 |
2 | 195 | 0.0103 | 20 | c.38+ others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390304 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0119 a0001c0004t0005g0277 |
2 | 195 | 0.0103 | 20 | c.38+ others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390330 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02970.hp1 HG03579.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0005others(1): Show | a0001c0002t0001g0286 a0001c0003t0001g0209 a0001c0004t0005g0192 others(1): Show |
4 | 59 | 0.0678 | 20 | c.38+ others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390330 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 NA19000.hp2 NA19074.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0012 | a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0003t0012g0073 |
3 | 58 | 0.0517 | 20 | c.38+ others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109167621 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03516.hp1 HG03579.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0046a0001c0050a0002c0021others(6): Show | a0001c0046t0002a0001c0050t0001a0002c0021t0003others(6): Show | a0001c0046t0002g0067 a0001c0050t0001g0276 a0002c0021t0003g0251 others(6): Show |
9 | 100 | 0.0900 | 20 | c.787 others(35): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210280 | C | CATGTGTG others(13): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0250 | 1 | 280 | 0.0036 | 20 | c.324 others(37): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210312 | C | CATGTGTG others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0006 | a0006c0120 | a0006c0120t0003 | a0006c0120t0003g0043 | 1 | 286 | 0.0035 | 20 | c.324 others(37): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109222294 | C | CGAGTGAG others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00544.hp1 others(61): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0003a0001c0010others(27): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0001others(31): Show | a0001c0002t0001g0035 a0001c0002t0001g0074 a0001c0002t0001g0079 others(61): Show |
64 | 255 | 0.2510 | 20 | c.356 others(37): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 24/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109259181 | A | ATGTCCTA others(13): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0030 | a0030c0059 | a0030c0059t0002 | a0030c0059t0002g0039 | 1 | 306 | 0.0033 | 20 | c.649 others(35): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 47/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG02109.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0016a0002c0014others(4): Show | a0001c0002t0001a0001c0002t0021a0001c0016t0009others(6): Show | a0001c0002t0001g0081 a0001c0002t0001g0091 a0001c0002t0001g0114 others(12): Show |
15 | 39 | 0.3846 | 20 | c.678 others(37): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132588192 | G | GGTATGTA others(13): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0257 | 1 | 245 | 0.0041 | 20 | c.162 others(39): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 13/19 | chr3 | TogoVar | |||||||
ACAD8_chr11_134248568_134270855 | 134267823 | C | CCACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02622.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0054 |
11 | 327 | 0.0336 | 20 | c.*28 others(31): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 1969 | chr11 | TogoVar | |||||||
ACAD9_chr3_128874620_128918114 | 128887644 | A | AATAAATA others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0188 a0001c0003t0005g0189 |
2 | 110 | 0.0182 | 20 | c.244 others(37): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210214467 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01081.hp1 others(48): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 others(40): Show |
51 | 72 | 0.7083 | 20 | c.536 others(37): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
ACADL_chr2_210182923_210230447 | 210214509 | A | AAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 253 | 0.0040 | 20 | c.536 others(37): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
ACADL_chr2_210182923_210230447 | 210214509 | A | AAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 253 | 0.0040 | 20 | c.536 others(37): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75736173 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02258.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 |
3 | 17 | 0.1765 | 20 | c.468 others(37): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75753795 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 a0001c0001t0001g0276 |
2 | 87 | 0.0230 | 20 | c.945 others(37): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123045171 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0138 | 1 | 126 | 0.0079 | 20 | c.900 others(35): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |