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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOXL_chr2_110727573_111123548 | 110839971 | G | GGTTTGTT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(92): Show |
a0000a0001a0002others(10): Show | a0000c0013a0001c0001a0001c0003others(14): Show | a0000c0013t0001a0001c0001t0001a0001c0001t0002others(28): Show | a0000c0013t0001g0046a0001c0001t0001g0008a0001c0001t0001g0010others(92): Show | 95 | 150 | 0.6333 | 16 | c.754 others(33): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCACACAC others(9): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01175.hp2 HG01258.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0002c0002t0002a0005c0007t0002others(1): Show | a0001c0001t0001g0137a0001c0001t0001g0150a0002c0002t0002g0147others(2): Show | 5 | 150 | 0.0333 | 16 | c.788 others(33): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCGCACAC others(9): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0082 | 2 | 150 | 0.0133 | 16 | c.788 others(33): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110915334 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 150 | 0.0067 | 16 | c.905 others(33): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110950810 | G | GGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03195.hp2 NA18993.hp1 others(1): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0005 | a0001c0003t0001a0002c0002t0001a0004c0005t0002 | a0001c0003t0001g0036a0002c0002t0001g0114a0002c0002t0001g0132others(1): Show | 4 | 150 | 0.0267 | 16 | c.105 others(37): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 111022421 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0011 | a0011c0010 | a0011c0010t0002 | a0011c0010t0002g0009 | 1 | 150 | 0.0067 | 16 | c.128 others(35): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACP2_chr11_47234302_47253814 | 47245857 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0010others(17): Show | 89 | 358 | 0.2486 | 16 | c.298 others(29): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
ACP3_chr3_132312407_132363841 | 132325595 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0012others(79): Show | 95 | 368 | 0.2582 | 16 | c.121 others(33): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACP3_chr3_132312407_132363841 | 132325603 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 368 | 0.0027 | 16 | c.121 others(33): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACP3_chr3_132312407_132363841 | 132347844 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp1 others(43): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0003a0001c0002t0004a0001c0002t0011others(5): Show | a0001c0002t0003g0011a0001c0002t0003g0059a0001c0002t0003g0065others(41): Show | 46 | 368 | 0.1250 | 16 | c.782 others(33): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACP5_chr19_11569660_11582645 | 11576006 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01952.hp1 HG02055.hp1 others(8): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0005 | 11 | 444 | 0.0248 | 16 | c.735 others(31): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ACP5_chr19_11569660_11582645 | 11579604 | A | AGGGGGGG others(9): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0009 | a0009c0017 | a0009c0017t0001 | a0009c0017t0001g0077 | 1 | 444 | 0.0023 | 16 | c.-20 others(27): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 1960 | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01255.hp1 HG01361.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0006a0001c0003t0003a0001c0003t0006others(3): Show | a0001c0001t0006g0096a0001c0001t0006g0213a0001c0003t0003g0013others(12): Show | 15 | 402 | 0.0373 | 16 | c.111 others(35): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACRV1_chr11_125666522_125685847 | 125678978 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG04199.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087a0001c0001t0002g0088 | 2 | 426 | 0.0047 | 16 | c.53- others(29): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ACRV1_chr11_125666522_125685847 | 125679228 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0036a0001c0001t0001g0064 | 6 | 426 | 0.0141 | 16 | c.53- others(29): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78215724 | G | GAGAAAGA others(9): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0152 | 2 | 350 | 0.0057 | 16 | c.132 others(33): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78215727 | A | AAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG01943.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(6): Show | a0001c0001t0001g0227a0001c0001t0001g0252a0001c0001t0001g0282others(14): Show | 17 | 350 | 0.0486 | 16 | c.132 others(33): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78225401 | C | CAATAAAT others(9): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01515.hp2 HG02723.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0005 | a0001c0001t0001g0315a0001c0001t0001g0316a0002c0005t0005g0314others(1): Show | 4 | 350 | 0.0114 | 16 | c.131 others(33): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78235958 | A | AACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02723.hp2 NA18951.hp1 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0004a0002c0005t0034 | a0002c0002t0004g0054a0002c0002t0004g0055a0002c0005t0034g0226 | 3 | 350 | 0.0086 | 16 | c.-14 others(27): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1394 | chr15 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6153878 | G | GGAAAAGA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(109): Show |
a0001a0003a0014others(1): Show | a0001c0001a0001c0017a0001c0024others(3): Show | a0001c0001t0001a0001c0017t0001a0001c0024t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(109): Show | 112 | 262 | 0.4275 | 16 | c.386 others(33): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4/14 | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 HG02965.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0003a0002c0002t0001a0005c0006t0001 | a0001c0001t0003g0141a0001c0001t0003g0142a0002c0002t0001g0024others(3): Show | 6 | 262 | 0.0229 | 16 | c.738 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19030.hp2 |
a0003a0004 | a0003c0011a0004c0003 | a0003c0011t0001a0004c0003t0002 | a0003c0011t0001g0160a0004c0003t0002g0136 | 2 | 262 | 0.0076 | 16 | c.738 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTTTGTGT others(9): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0243 | 1 | 262 | 0.0038 | 16 | c.738 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6192071 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02258.hp1 others(5): Show |
a0003 | a0003c0004a0003c0012 | a0003c0004t0002a0003c0012t0002 | a0003c0004t0002g0006a0003c0004t0002g0007a0003c0004t0002g0008others(5): Show | 8 | 262 | 0.0305 | 16 | c.*36 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSL1_chr4_184750595_184830968 | 184786418 | G | GCACGCAC others(9): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0158a0001c0002t0002g0224 | 2 | 392 | 0.0051 | 16 | c.310 others(33): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184826087 | C | CCGGCCCC others(9): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(132): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(122): Show | 135 | 392 | 0.3444 | 16 | c.-22 others(25): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 120 | chr4 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112401839 | T | TCTTTCTT others(9): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 364 | 0.0028 | 16 | c.266 others(33): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112423219 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0213 | 2 | 364 | 0.0055 | 16 | c.159 others(33): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSM1_chr16_20618235_20702680 | 20627869 | C | CATACATA others(9): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 318 | 0.0031 | 16 | c.130 others(33): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20664147 | G | GTATTTAT others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(224): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(10): Show | a0001c0001t0002g0002a0001c0001t0002g0018a0001c0001t0002g0025others(221): Show | 227 | 318 | 0.7138 | 16 | c.913 others(33): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20664171 | T | TTATTTAT others(9): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0136 | 1 | 318 | 0.0031 | 16 | c.913 others(33): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0257 | 1 | 318 | 0.0031 | 16 | c.612 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18947.hp1 NA18967.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0005 | a0001c0003t0001g0092a0001c0003t0001g0093a0001c0003t0001g0174others(1): Show | 4 | 318 | 0.0126 | 16 | c.612 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02735.hp1 NA18972.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0047a0001c0003t0001g0115a0001c0003t0001g0142others(4): Show | 7 | 318 | 0.0220 | 16 | c.612 others(31): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20678011 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00621.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0018a0001c0001t0002g0026others(79): Show | 83 | 318 | 0.2610 | 16 | c.611 others(33): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20697556 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0314 | 1 | 318 | 0.0031 | 16 | c.-52 others(29): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20458905 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0168a0001c0001t0024g0169 | 2 | 436 | 0.0046 | 16 | c.-8- others(31): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM2A_chr16_20446521_20492669 | 20488494 | C | CAGAGAGA others(9): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0241 | 1 | 436 | 0.0023 | 16 | c.*18 others(27): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 826 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTGTGTGT others(9): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02895.hp1 others(1): Show |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0004a0006c0010t0003a0006c0010t0017 | a0001c0002t0004g0227a0006c0010t0003g0011a0006c0010t0003g0114others(1): Show | 4 | 388 | 0.0103 | 16 | c.*17 others(27): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566758 | A | AGTATATA others(9): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0126 | 1 | 388 | 0.0026 | 16 | c.-8- others(31): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20409863 | A | AGGAGAGG others(9): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18944.hp1 NA18948.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0055others(2): Show | 5 | 434 | 0.0115 | 16 | c.-16 others(31): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20443452 | T | TTGAATGA others(9): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 HG02148.hp2 NA20752.hp1 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0003a0005c0005t0009 | a0001c0001t0001g0059a0001c0001t0001g0237a0003c0003t0003g0017others(1): Show | 4 | 434 | 0.0092 | 16 | c.*30 others(27): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 2117 | chr16 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25037001 | A | AAAGGAAG others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 HG03453.hp2 others(1): Show |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0031a0004c0008t0001g0032a0004c0008t0001g0033others(1): Show | 4 | 244 | 0.0164 | 16 | c.432 others(33): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34877909 | C | CAGATAGA others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00642.hp2 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0002c0004t0001others(3): Show | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0165others(51): Show | 54 | 312 | 0.1731 | 16 | c.178 others(33): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01069.hp1 HG01070.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023a0001c0002t0001g0035a0001c0002t0001g0039others(7): Show | 10 | 312 | 0.0321 | 16 | c.375 others(35): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CACACATA others(9): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 290 | 0.0035 | 16 | c.312 others(33): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213896 | T | TTTTCCTT others(9): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02145.hp1 HG03831.hp1 others(13): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0002a0001c0002t0009a0001c0002t0024others(1): Show | a0001c0002t0002g0024a0001c0002t0002g0138a0001c0002t0002g0158others(13): Show | 16 | 290 | 0.0552 | 16 | c.135 others(35): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213953 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0226 | 2 | 290 | 0.0069 | 16 | c.135 others(35): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01884.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0035others(13): Show | 16 | 290 | 0.0552 | 16 | c.135 others(35): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACSS3_chr12_81073079_81266210 | 81251668 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0028 | a0001c0001t0004g0090a0001c0001t0004g0091a0001c0001t0004g0092others(1): Show | 4 | 290 | 0.0138 | 16 | c.172 others(35): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |