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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACAD8_chr11_134248568_134270855 | 134268756 | G | GTTCTCAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02280.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033a0001c0001t0002g0011a0001c0001t0002g0012others(1): Show | 17 | 448 | 0.0380 | 19 | c.*37 others(30): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 2902 | chr11 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75737279 | A | AATTATAT others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254a0001c0001t0001g0257 | 2 | 364 | 0.0055 | 19 | c.468 others(36): 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(12): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 364 | 0.0028 | 19 | c.945 others(36): 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(12): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0004 | a0003c0004t0014 | a0003c0004t0014g0183 | 1 | 374 | 0.0027 | 19 | c.900 others(34): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACAP2_chr3_195269745_195448020 | 195372987 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312 | 1 | 324 | 0.0031 | 19 | c.285 others(36): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195377138 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280a0001c0001t0002g0292 | 2 | 324 | 0.0062 | 19 | c.285 others(36): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288347 | C | CCCCCGTG others(12): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0197 | 1 | 295 | 0.0034 | 19 | c.*52 others(30): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4043 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289431 | T | TCCCGTGT others(12): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 295 | 0.0034 | 19 | c.*41 others(30): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2959 | chr1 | TogoVar | ||||||
ACAT1_chr11_108116567_108152603 | 108131354 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0007 | a0001c0001t0004g0322a0001c0001t0004g0323a0002c0002t0007g0057 | 3 | 386 | 0.0078 | 19 | c.73- others(32): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACBD3_chr1_226139679_226191741 | 226172155 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03017.hp2 NA18941.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0018a0001c0001t0001g0332a0001c0001t0001g0337others(11): Show | 15 | 396 | 0.0379 | 19 | c.287 others(36): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228815 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 384 | 0.0026 | 19 | c.375 others(36): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228815 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0285 | 1 | 384 | 0.0026 | 19 | c.375 others(36): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228815 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 HG03486.hp1 NA18992.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0218a0001c0002t0001g0214a0001c0002t0001g0280 | 3 | 384 | 0.0078 | 19 | c.375 others(36): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228815 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03831.hp1 NA18962.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0002t0001a0001c0014t0001 | a0001c0001t0001g0263a0001c0002t0001g0234a0001c0002t0001g0262others(3): Show | 6 | 384 | 0.0156 | 19 | c.375 others(36): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228815 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02004.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0295a0001c0002t0001g0246 | 4 | 384 | 0.0104 | 19 | c.375 others(36): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228815 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0241 | 1 | 384 | 0.0026 | 19 | c.375 others(36): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228816 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0200 | 1 | 384 | 0.0026 | 19 | c.375 others(36): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 77024272 | C | CAAAAAAA others(12): Show |
3_prime_UTR_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0078 | a0001c0001t0032g0065a0001c0001t0032g0066a0001c0001t0078g0033 | 3 | 346 | 0.0087 | 19 | c.*39 others(30): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 3975 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
ACKR2_chr3_42804445_42872286 | 42828092 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18960.hp2 NA19079.hp2 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0241a0002c0003t0005g0242 | 2 | 342 | 0.0059 | 19 | c.-38 others(36): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACLY_chr17_41861918_41923951 | 41882367 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 294 | 0.0034 | 19 | c.226 others(36): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41900069 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02523.hp1 NA18952.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0263a0002c0002t0003g0270a0002c0002t0003g0274others(2): Show | 5 | 294 | 0.0170 | 19 | c.118 others(38): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 11/28 | chr17 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134840167 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01257.hp2 NA18612.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026 | 3 | 382 | 0.0079 | 19 | c.57+ others(34): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACO1_chr9_32379643_32459769 | 32450905 | A | ACACCATA others(12): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0008a0001c0010a0001c0022others(2): Show | a0001c0008t0032a0001c0010t0028a0001c0010t0072others(3): Show | a0001c0008t0032g0086a0001c0008t0032g0326a0001c0010t0028g0066others(4): Show | 7 | 382 | 0.0183 | 19 | c.*79 others(28): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 21/21 | 815 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
ACOD1_chr13_76943511_76963638 | 76944257 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02056.hp2 NA18959.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0024others(1): Show | 11 | 434 | 0.0254 | 19 | c.-43 others(30): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 4253 | chr13 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54562969 | G | GCCAGGCA others(12): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0233 | 1 | 388 | 0.0026 | 19 | c.33+ others(36): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT6_chr14_73607517_73624888 | 73615388 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 394 | 0.0025 | 19 | c.462 others(36): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACOT9_chrX_23696055_23748276 | 23742236 | G | GAGAGAGA others(12): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0141a0001c0001t0005g0067 | 2 | 309 | 0.0065 | 19 | c.20+ others(32): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75968435 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 HG01981.hp2 others(21): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0053a0001c0001t0002g0057a0001c0001t0002g0063others(21): Show | 24 | 344 | 0.0698 | 19 | c.270 others(36): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75970184 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01175.hp2 others(6): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0054a0001c0001t0002g0099a0001c0001t0003g0100others(6): Show | 9 | 344 | 0.0262 | 19 | c.269 others(36): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ACP3_chr3_132312407_132363841 | 132347872 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0097 | 1 | 368 | 0.0027 | 19 | c.782 others(36): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
ACP5_chr19_11569660_11582645 | 11576006 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02970.hp2 NA18982.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0025a0001c0001t0001g0066a0003c0002t0001g0031 | 6 | 444 | 0.0135 | 19 | c.735 others(34): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ACP6_chr1_147637230_147675524 | 147673342 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 404 | 0.0025 | 19 | c.-32 others(30): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 2819 | chr1 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTACTTTC others(12): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19057.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0059a0001c0002t0005g0073 | 2 | 402 | 0.0050 | 19 | c.111 others(38): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01934.hp1 HG01993.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(7): Show | a0001c0001t0001g0310a0001c0001t0001g0316a0001c0001t0001g0372others(12): Show | 15 | 402 | 0.0373 | 19 | c.111 others(38): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACP7_chr19_39079368_39116493 | 39102764 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0261 | 1 | 402 | 0.0025 | 19 | c.111 others(38): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACRV1_chr11_125666522_125685847 | 125678974 | C | CATTATAT others(12): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03927.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0034a0002c0002t0004g0058 | 3 | 426 | 0.0070 | 19 | c.53- others(32): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ACRV1_chr11_125666522_125685847 | 125679216 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02723.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 3 | 426 | 0.0070 | 19 | c.53- others(32): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6166331 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG02897.hp1 NA18952.hp1 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0002 | a0002c0002t0001g0121a0003c0004t0002g0013 | 2 | 262 | 0.0076 | 19 | c.738 others(34): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6197813 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 NA19077.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001a0003c0005t0001g0244 | 2 | 262 | 0.0076 | 19 | c.*51 others(30): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4723 | chr19 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89100667 | C | CCCCAGGA others(12): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(38): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0084others(215): Show | 221 | 368 | 0.6005 | 19 | c.-14 others(26): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 3/11 | 13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
ACSL5_chr10_112369116_112433376 | 112423221 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 364 | 0.0028 | 19 | c.159 others(36): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112423221 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 364 | 0.0028 | 19 | c.159 others(36): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | chr10 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0088 | 1 | 318 | 0.0031 | 19 | c.612 others(34): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20466134 | G | GCTATGCC others(12): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01074.hp2 others(6): Show |
a0002a0013 | a0002c0002a0013c0021 | a0002c0002t0002a0002c0002t0003a0002c0002t0018others(1): Show | a0002c0002t0002g0199a0002c0002t0003g0027a0002c0002t0003g0242others(5): Show | 9 | 436 | 0.0206 | 19 | c.388 others(34): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566676 | C | CTATATAT others(12): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0012 | a0012c0030 | a0012c0030t0018 | a0012c0030t0018g0139 | 1 | 388 | 0.0026 | 19 | c.-8- others(34): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20575174 | G | GAACTCCA others(12): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02148.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0150a0001c0004t0002g0151 | 2 | 388 | 0.0052 | 19 | c.-9+ others(34): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81139965 | A | AACTAGAT others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0041 | 1 | 290 | 0.0035 | 19 | c.780 others(34): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73923641 | C | CAAGAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0359 | 1 | 416 | 0.0024 | 19 | c.*40 others(30): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3777 | chr2 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AGAGAGAG others(12): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 356 | 0.0028 | 19 | c.*25 others(30): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68881936 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 284 | 0.0035 | 19 | c.195 others(36): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar |