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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC5_chr3_183914934_184022884 | 184012047 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 378 | 0.0027 | 17 | c.129 others(34): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16172110 | G | GGTGGGAT others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 357 | 0.0028 | 17 | c.278 others(36): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17467042 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0126 | 1 | 330 | 0.0030 | 17 | c.412 others(34): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3/38 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 212 | 0.0047 | 17 | c.816 others(32): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184191739 | G | GTTCCTTT others(10): Show |
intron_variant | MODIFIER | HG03540.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 | 2 | 416 | 0.0048 | 17 | c.156 others(34): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 NA18969.hp2 |
a0002a0016 | a0002c0004a0016c0025 | a0002c0004t0041a0016c0025t0080 | a0002c0004t0041g0020a0016c0025t0080g0156 | 2 | 318 | 0.0063 | 17 | c.*92 others(28): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAAAGA others(10): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 376 | 0.0027 | 17 | c.-11 others(28): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0176 | 1 | 376 | 0.0027 | 17 | c.486 others(32): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50882382 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 376 | 0.0027 | 17 | c.486 others(32): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0011a0001c0003t0011 | a0001c0002t0011g0301a0001c0003t0011g0302 | 2 | 316 | 0.0063 | 17 | c.422 others(32): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0283 | 1 | 316 | 0.0032 | 17 | c.422 others(32): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0298 | 1 | 316 | 0.0032 | 17 | c.422 others(32): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00733.hp2 HG03540.hp1 |
a0001a0005 | a0001c0002a0005c0008 | a0001c0002t0002a0005c0008t0002 | a0001c0002t0002g0189a0005c0008t0002g0248 | 2 | 316 | 0.0063 | 17 | c.422 others(32): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0301a0001c0001t0002g0063 | 2 | 360 | 0.0056 | 17 | c.590 others(34): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21667234 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 304 | 0.0033 | 17 | c.556 others(34): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58271766 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0168 | 1 | 302 | 0.0033 | 17 | c.523 others(32): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0165a0001c0001t0003g0277a0001c0001t0003g0278others(6): Show | 9 | 358 | 0.0251 | 17 | c.463 others(34): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203370227 | T | TCTCTCTC others(10): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103 | 1 | 320 | 0.0031 | 17 | c.285 others(34): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203385139 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01257.hp1 HG01258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0013a0001c0001t0021others(3): Show | a0001c0001t0005g0081a0001c0001t0005g0102a0001c0001t0005g0103others(13): Show | 16 | 320 | 0.0500 | 17 | c.480 others(34): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI3BP_chr3_100744156_100998421 | 100869330 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01975.hp2 HG03834.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0021a0001c0005t0001a0001c0009t0001others(2): Show | a0001c0001t0021g0106a0001c0005t0001g0084a0001c0009t0001g0086others(2): Show | 5 | 238 | 0.0210 | 17 | c.911 others(34): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179178401 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0230a0001c0001t0003g0033a0001c0001t0003g0052others(51): Show | 54 | 350 | 0.1543 | 17 | c.158 others(36): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114437505 | G | GAAACAGG others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03098.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0083a0001c0002t0033 | a0001c0001t0083g0017a0001c0002t0033g0005a0001c0002t0033g0012 | 3 | 256 | 0.0117 | 17 | c.222 others(34): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 22/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114634129 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01192.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0010a0001c0001t0013a0001c0001t0072others(4): Show | a0001c0001t0010g0185a0001c0001t0013g0177a0001c0001t0072g0183others(4): Show | 7 | 256 | 0.0273 | 17 | c.244 others(36): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114644306 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0098 | a0001c0002t0098g0119 | 1 | 256 | 0.0039 | 17 | c.244 others(36): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 7980941 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0020others(57): Show | 60 | 322 | 0.1863 | 17 | c.182 others(36): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8091549 | T | TATATATT others(10): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG01074.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0013a0001c0001t0001g0027a0001c0001t0001g0061others(13): Show | 16 | 322 | 0.0497 | 17 | c.339 others(34): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149170228 | T | TCTCTCTC others(10): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0215 | 1 | 258 | 0.0039 | 17 | c.14- others(34): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ABRACL_chr6_139023745_139048302 | 139045630 | G | GACATCTA others(10): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055a0001c0001t0002g0057a0001c0001t0002g0058others(2): Show | 8 | 448 | 0.0179 | 17 | c.*27 others(28): Show |
ABRACL | ENSG00000146386.8 | transcript | ENST00000367660.4 | protein_coding | 2329 | chr6 | TogoVar | ||||||
ABRA_chr8_106754483_106775244 | 106758499 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 440 | 0.0046 | 17 | c.*25 others(28): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 983 | chr8 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1022106 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01884.hp2 HG02071.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0004g0308a0001c0001t0005g0322a0001c0001t0006g0075others(6): Show | 9 | 337 | 0.0267 | 17 | c.179 others(36): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1024024 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01109.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0058a0001c0001t0003g0062a0001c0001t0003g0168others(1): Show | 4 | 337 | 0.0119 | 17 | c.179 others(38): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34182497 | T | TGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 246 | 0.0041 | 17 | c.124 others(36): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 3/16 | chr11 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107508434 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0172 | 1 | 186 | 0.0054 | 17 | c.113 others(38): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107508438 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 186 | 0.0054 | 17 | c.113 others(38): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107525324 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 186 | 0.0054 | 17 | c.128 others(36): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0137 | 1 | 299 | 0.0033 | 17 | c.507 others(36): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0189 | 1 | 299 | 0.0033 | 17 | c.507 others(36): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174021 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 299 | 0.0033 | 17 | c.507 others(36): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109126946 | C | CATAAATT others(10): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0077 | 1 | 308 | 0.0033 | 17 | c.-10 others(36): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133864 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0070 | a0002c0070t0005 | a0002c0070t0005g0199 | 1 | 308 | 0.0033 | 17 | c.-9- others(32): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109206428 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01258.hp2 HG01884.hp1 others(1): Show |
a0009a0017a0026 | a0009c0025a0017c0123a0026c0066 | a0009c0025t0001a0017c0123t0015a0026c0066t0015 | a0009c0025t0001g0269a0009c0025t0001g0301a0017c0123t0015g0058others(1): Show | 4 | 308 | 0.0130 | 17 | c.291 others(34): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0212 | 1 | 308 | 0.0033 | 17 | c.678 others(34): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109262962 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0087 | 1 | 308 | 0.0033 | 17 | c.678 others(34): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128913477 | T | TTACACCA others(10): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00735.hp2 others(45): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0016others(27): Show | 48 | 372 | 0.1290 | 17 | c.*87 others(26): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 364 | chr3 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210214467 | A | AAGAAGAA others(10): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 274 | 0.0037 | 17 | c.536 others(34): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75737279 | A | AATTATAT others(10): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 364 | 0.0028 | 17 | c.468 others(34): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123056850 | G | GTTATAAT others(10): Show |
3_prime_UTR_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0003 | a0002c0003t0042 | a0002c0003t0042g0159 | 1 | 374 | 0.0027 | 17 | c.*30 others(28): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 11/11 | 3089 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ACAP2_chr3_195269745_195448020 | 195294608 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02040.hp2 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0044a0001c0002t0004g0050 | 2 | 324 | 0.0062 | 17 | c.176 others(34): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195294608 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0039 | 1 | 324 | 0.0031 | 17 | c.176 others(34): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195294608 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG00673.hp1 NA19078.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0025a0001c0002t0004g0048 | 2 | 324 | 0.0062 | 17 | c.176 others(34): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar |