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 | 37099529 | GAGGAGGG others(23): Show |
G | intron_variant | MODIFIER | HG03654.hp2 HG04115.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0124a0001c0003t0002g0038 | 2 | 299 | 0.0067 | -30 | c.656 others(49): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37202686 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0110 | 1 | 299 | 0.0033 | -30 | c.405 others(49): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 33/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37202688 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG03516.hp1 HG04228.hp1 NA18945.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0059a0001c0001t0001g0083a0001c0001t0001g0141others(8): Show | 11 | 299 | 0.0368 | -30 | c.405 others(49): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 33/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109124350 | AGTGTCAT others(23): Show |
A | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0077 | 1 | 308 | 0.0033 | -30 | c.-10 others(47): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210143 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG02559.hp2 others(1): Show |
a0002a0017a0026others(1): Show | a0002c0017a0017c0123a0026c0066others(1): Show | a0002c0017t0003a0017c0123t0015a0026c0066t0015others(1): Show | a0002c0017t0003g0042a0017c0123t0015g0058a0026c0066t0015g0115others(1): Show | 4 | 308 | 0.0130 | -30 | c.324 others(47): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210222 | TGTGTGTA others(23): Show |
T | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0078 | 1 | 308 | 0.0033 | -30 | c.324 others(47): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641578 | AGAAGAAG others(23): Show |
A | intron_variant | MODIFIER | NA19074.hp1 NA19090.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139a0002c0002t0001g0140 | 2 | 316 | 0.0063 | -30 | c.537 others(45): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD8_chr11_134248568_134270855 | 134253940 | GGGTCCTC others(23): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG03942.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0037a0001c0001t0001g0038others(2): Show | 6 | 448 | 0.0134 | -30 | c.109 others(45): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACAD8_chr11_134248568_134270855 | 134270521 | GTCACCAC others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0036 | 16 | 448 | 0.0357 | -30 | c.*55 others(41): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 4667 | chr11 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75737279 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG03041.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156a0001c0001t0002g0157 | 2 | 364 | 0.0055 | -30 | c.468 others(47): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADS_chr12_120720826_120745008 | 120733535 | CTGCCTGC others(23): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(172): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0026others(106): Show | 175 | 426 | 0.4108 | -30 | c.211 others(47): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACER2_chr9_19404009_19457505 | 19428008 | TTTTCCTT others(23): Show |
T | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 358 | 0.0028 | -30 | c.365 others(47): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76950352 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG01993.hp1 HG02129.hp1 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0006a0002c0004t0087a0002c0004t0089others(1): Show | a0002c0004t0006g0304a0002c0004t0006g0306a0002c0004t0006g0309others(7): Show | 10 | 346 | 0.0289 | -30 | c.215 others(47): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54599171 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | NA18969.hp1 NA19056.hp1 NA19074.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0302a0004c0004t0004g0355a0004c0004t0004g0357 | 3 | 388 | 0.0077 | -30 | c.765 others(44): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54599173 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG02055.hp1 NA18954.hp2 |
a0002a0004 | a0002c0008a0004c0004 | a0002c0008t0003a0004c0004t0004 | a0002c0008t0003g0052a0004c0004t0004g0305 | 2 | 388 | 0.0052 | -30 | c.765 others(44): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54599177 | AAAAAATA others(23): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0023 | a0001c0023t0006 | a0001c0023t0006g0081 | 1 | 388 | 0.0026 | -30 | c.765 others(44): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT7_chr1_6259272_6398767 | 6354670 | GCACTGGC others(23): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG01167.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0066a0001c0001t0002g0001a0001c0001t0002g0098others(55): Show | 59 | 240 | 0.2458 | -30 | c.144 others(47): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956947 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02615.hp1 HG03486.hp2 |
a0001 | a0001c0004a0001c0018 | a0001c0004t0008a0001c0018t0039 | a0001c0004t0008g0116a0001c0004t0008g0127a0001c0018t0039g0308 | 3 | 344 | 0.0087 | -30 | c.538 others(45): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956951 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02486.hp1 HG02723.hp1 |
a0001a0003 | a0001c0004a0003c0005 | a0001c0004t0008a0001c0004t0053a0003c0005t0054 | a0001c0004t0008g0130a0001c0004t0053g0131a0003c0005t0054g0315 | 3 | 344 | 0.0087 | -30 | c.538 others(45): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956953 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG03041.hp1 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0008a0002c0002t0009 | a0001c0004t0008g0133a0002c0002t0009g0290 | 2 | 344 | 0.0058 | -30 | c.538 others(45): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956955 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG03017.hp2 NA18906.hp1 NA18949.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023a0002c0002t0001g0146a0002c0002t0001g0253 | 3 | 344 | 0.0087 | -30 | c.538 others(45): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956957 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02895.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021a0002c0002t0001g0022 | 2 | 344 | 0.0058 | -30 | c.538 others(45): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956959 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02280.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0063 | a0002c0002t0001g0154a0002c0002t0001g0176a0002c0002t0001g0197others(2): Show | 5 | 344 | 0.0145 | -30 | c.538 others(45): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956961 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0277 | 1 | 344 | 0.0029 | -30 | c.538 others(45): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956963 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0244 | 1 | 344 | 0.0029 | -30 | c.538 others(45): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58510683 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0292 | 1 | 364 | 0.0028 | -30 | c.185 others(49): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58510687 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG03486.hp1 NA19057.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0050a0001c0005t0002g0298 | 2 | 364 | 0.0055 | -30 | c.185 others(49): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58510693 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 364 | 0.0028 | -30 | c.185 others(49): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8373427 | GCTAAGGG others(23): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0260 | 1 | 380 | 0.0026 | -30 | c.189 others(47): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 16/17 | chr4 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8373434 | GGGTGCGT others(23): Show |
G | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 380 | 0.0026 | -30 | c.189 others(46): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 16/17 | chr4 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8393615 | GCACACAC others(23): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0243 | 1 | 380 | 0.0026 | -30 | c.117 others(48): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110767923 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0149 | 1 | 150 | 0.0067 | -30 | c.-22 others(45): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACSBG1_chr15_78162468_78239565 | 78236279 | ATTTTCCC others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0060 | 1 | 350 | 0.0029 | -30 | c.-18 others(41): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1715 | chr15 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6138633 | GAAAGGAA others(23): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01433.hp1 others(12): Show |
a0002a0003a0004 | a0002c0002a0003c0005a0003c0012others(1): Show | a0002c0002t0001a0003c0005t0001a0003c0012t0002others(1): Show | a0002c0002t0001g0042a0003c0005t0001g0001a0003c0005t0001g0133others(11): Show | 15 | 262 | 0.0573 | -30 | c.-32 others(47): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89124061 | CGGGTATC others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0014others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(56): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0084others(284): Show | 291 | 368 | 0.7908 | -30 | c.123 others(49): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89147362 | CCACAGAG others(23): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp2 others(17): Show |
a0001a0002 | a0001c0005a0001c0018a0002c0003 | a0001c0005t0011a0001c0018t0011a0002c0003t0005others(1): Show | a0001c0005t0011g0311a0001c0005t0011g0313a0001c0005t0011g0321others(17): Show | 20 | 368 | 0.0544 | -30 | c.161 others(49): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89147452 | TCACAGAG others(23): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0108 | 1 | 368 | 0.0027 | -30 | c.161 others(49): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89147482 | CCACAGAG others(23): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02074.hp2 NA18969.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0006 | a0002c0002t0004g0201a0002c0002t0004g0202a0002c0002t0004g0228others(1): Show | 4 | 368 | 0.0109 | -30 | c.161 others(49): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSL6_chr5_131944973_132016658 | 131975581 | GCTGAGCC others(23): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01069.hp1 others(19): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0003a0005c0010t0003 | a0001c0001t0003g0011a0001c0001t0003g0012a0001c0001t0003g0020others(13): Show | 22 | 326 | 0.0675 | -30 | c.991 others(45): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 10/20 | chr5 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627869 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0095 | 1 | 318 | 0.0031 | -30 | c.130 others(47): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20488052 | TGAGCAAC others(23): Show |
T | downstream_gene_variant | MODIFIER | HG01928.hp2 | a0017 | a0017c0030 | a0017c0030t0031 | a0017c0030t0031g0122 | 1 | 436 | 0.0023 | -30 | c.*13 others(41): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 384 | chr16 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25041694 | CAAAAATC others(23): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(22): Show |
a0001a0002a0011 | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0003t0003a0001c0010t0003others(4): Show | a0001c0001t0001g0094a0001c0001t0001g0193a0001c0003t0003g0008others(19): Show | 25 | 244 | 0.1025 | -30 | c.431 others(47): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229435455 | CCTGTCCC others(23): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02451.hp2 HG03471.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 3 | 450 | 0.0067 | -30 | c.-14 others(41): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1362 | chr1 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229435461 | CCTCTCTC others(23): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 450 | 0.0022 | -30 | c.-15 others(41): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73923641 | CAAGAAAA others(23): Show |
C | downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 416 | 0.0024 | -30 | c.*40 others(41): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3777 | chr2 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735767 | GGGGGCGG others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0301 | 1 | 314 | 0.0032 | -30 | c.*63 others(41): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4179 | chr19 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97665721 | CTCTCTCT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 398 | 0.0025 | -30 | c.-18 others(41): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1678 | chr2 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152778943 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | NA18942.hp2 NA18971.hp1 NA18990.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051a0001c0001t0002g0052a0001c0001t0002g0053others(4): Show | 7 | 310 | 0.0226 | -30 | c.45- others(45): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACVR1_chr2_157731446_157881330 | 157826697 | GAAGGAAA others(23): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG01243.hp1 HG02040.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0042a0001c0001t0001g0093a0001c0001t0002g0050others(14): Show | 17 | 174 | 0.0977 | -30 | c.-18 others(49): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACACACA others(23): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02523.hp2 HG02965.hp2 HG02976.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0051a0001c0001t0107a0001c0001t0180others(6): Show | a0001c0001t0051g0022a0001c0001t0107g0022a0001c0001t0180g0002others(6): Show | 10 | 410 | 0.0244 | -30 | c.*94 others(41): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9443 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |