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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACLY_chr17_41861918_41923951 | 41900078 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0032 a0002c0002t0006g0033 |
2 | 292 | 0.0068 | -24 | c.118 others(43): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 11/28 | chr17 | TogoVar | |||||||
ACO1_chr9_32379643_32459769 | 32450735 | TTTTACTA others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0016 | 1 | 380 | 0.0026 | -24 | c.*62 others(33): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 21/21 | 625 | chr9 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41513920 | ATGTGGAC others(17): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02698.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0208 a0001c0002t0001g0081 |
2 | 331 | 0.0060 | -24 | c.526 others(41): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599171 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0058 | 1 | 378 | 0.0026 | -24 | c.765 others(39): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599173 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0183 | 1 | 372 | 0.0027 | -24 | c.765 others(38): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599175 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG03017.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005 a0001c0001t0008g0298 |
2 | 348 | 0.0057 | -24 | c.765 others(38): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54599177 | AAAAAATA others(17): Show |
A | intron_variant | MODIFIER | NA19079.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0147 a0001c0001t0008g0340 |
2 | 331 | 0.0060 | -24 | c.765 others(38): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54601117 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02818.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0163 a0002c0002t0006g0164 a0002c0002t0006g0165 others(1): Show |
4 | 386 | 0.0104 | -24 | c.885 others(39): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT1_chr14_73532143_73548796 | 73541839 | GTTTCTTT others(17): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp1 HG02897.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 152 | 0.0592 | -24 | c.660 others(39): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956910 | CCTCTCTC others(17): Show |
C | intron_variant | MODIFIER | HG02148.hp1 HG02258.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013 | a0001c0001t0002g0069 a0001c0001t0002g0096 a0001c0001t0003g0045 others(1): Show |
4 | 312 | 0.0128 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956949 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 338 | 0.0030 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956951 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG03209.hp2 NA18968.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0048a0001c0001t0056 | a0001c0001t0002g0115 a0001c0001t0002g0276 a0001c0001t0048g0053 others(1): Show |
4 | 320 | 0.0125 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956953 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011 | a0001c0001t0002g0064 a0001c0001t0002g0073 a0001c0001t0005g0270 others(1): Show |
4 | 321 | 0.0125 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956955 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02970.hp1 NA18906.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0012a0002c0002t0001a0002c0002t0009 | a0001c0003t0012g0015 a0001c0003t0012g0016 a0002c0002t0001g0002 others(2): Show |
5 | 319 | 0.0157 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956957 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0019a0001c0003t0012 | a0001c0001t0019g0117 a0001c0003t0012g0017 |
2 | 326 | 0.0061 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956959 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG00280.hp2 NA18941.hp1 NA19009.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0063a0002c0002t0073 | a0002c0002t0001g0185 a0002c0002t0063g0265 a0002c0002t0073g0204 |
3 | 321 | 0.0093 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956961 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01258.hp1 HG02738.hp2 |
a0002a0006 | a0002c0002a0006c0015 | a0002c0002t0001a0006c0015t0001 | a0002c0002t0001g0152 a0002c0002t0001g0264 a0006c0015t0001g0295 |
3 | 325 | 0.0092 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956963 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG02083.hp1 NA18975.hp2 NA18983.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0026a0002c0002t0001 | a0001c0001t0026g0105 a0002c0002t0001g0172 a0002c0002t0001g0223 others(1): Show |
4 | 324 | 0.0123 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956965 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01433.hp1 HG01516.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006a0002c0002t0010 | a0002c0002t0001g0154 a0002c0002t0001g0164 a0002c0002t0001g0181 others(4): Show |
7 | 321 | 0.0218 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956967 | CTCTCTAT others(17): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01496.hp1 HG03017.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0027 | a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0249 others(2): Show |
5 | 312 | 0.0160 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956969 | CTCTATAT others(17): Show |
C | intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0246 | 1 | 308 | 0.0032 | -24 | c.538 others(39): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510691 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG03491.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(2): Show |
5 | 309 | 0.0162 | -24 | c.185 others(43): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510693 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00621.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(23): Show |
33 | 343 | 0.0962 | -24 | c.185 others(43): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510697 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 360 | 0.0028 | -24 | c.185 others(43): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510699 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG03195.hp1 NA19082.hp2 |
a0001a0007 | a0001c0002a0007c0013 | a0001c0002t0001a0007c0013t0001 | a0001c0002t0001g0204 a0007c0013t0001g0231 |
2 | 362 | 0.0055 | -24 | c.185 others(43): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510701 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225 | 1 | 355 | 0.0028 | -24 | c.185 others(43): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACOX3_chr4_8361282_8445723 | 8373373 | CTAAGGGG others(17): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 378 | 0.0026 | -24 | c.189 others(41): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 16/17 | chr4 | TogoVar | |||||||
ACOXL_chr2_110727573_111123548 | 110885982 | CAAATCAA others(17): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0008 | a0001c0001t0001g0041 a0001c0001t0001g0119 a0001c0001t0001g0120 others(4): Show |
7 | 148 | 0.0473 | -24 | c.789 others(43): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110900086 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(19): Show |
a0001a0003a0004 | a0001c0001a0001c0015a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0002others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(19): Show |
22 | 46 | 0.4783 | -24 | c.789 others(41): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78215724 | GAGAAAGA others(17): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03540.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0185 a0002c0002t0004g0153 a0002c0002t0004g0154 |
3 | 107 | 0.0280 | -24 | c.132 others(41): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78215772 | AAGAAAGA others(17): Show |
A | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0230 | 1 | 347 | 0.0029 | -24 | c.132 others(41): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6138543 | GAGGGAGG others(17): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG02055.hp1 HG02258.hp2 others(5): Show |
a0002a0015 | a0002c0002a0015c0021 | a0002c0002t0001a0015c0021t0001 | a0002c0002t0001g0072 a0002c0002t0001g0099 a0002c0002t0001g0100 others(5): Show |
8 | 260 | 0.0308 | -24 | c.-32 others(41): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSF2_chr17_50421218_50479837 | 50476157 | GCCTGCCC others(17): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0001a0002c0008t0001 | a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0255 others(2): Show |
5 | 318 | 0.0157 | -24 | c.*16 others(35): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1321 | chr17 | TogoVar | |||||||
ACSF2_chr17_50421218_50479837 | 50476270 | CCAGCGCG others(17): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0135 | 1 | 260 | 0.0038 | -24 | c.*17 others(35): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1434 | chr17 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112401823 | TCTTTCTT others(17): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 362 | 0.0028 | -24 | c.266 others(41): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20622192 | GGTGGGTG others(17): Show |
G | downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 174 | 0.0057 | -24 | c.*12 others(35): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1042 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20627869 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG02056.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 a0001c0002t0001g0209 a0001c0002t0001g0210 others(9): Show |
12 | 77 | 0.1558 | -24 | c.130 others(41): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20635580 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00621.hp1 others(19): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0194 others(19): Show |
22 | 46 | 0.4783 | -24 | c.129 others(43): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20421615 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | NA18941.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0267 a0001c0001t0007g0268 |
2 | 30 | 0.0667 | -24 | c.767 others(39): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81107511 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0229 | 1 | 81 | 0.0123 | -24 | c.312 others(41): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213957 | CTCTTTCT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00597.hp2 others(67): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(9): Show | a0001c0001t0003g0187 a0001c0001t0003g0206 a0001c0001t0003g0207 others(67): Show |
70 | 129 | 0.5426 | -24 | c.135 others(43): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTA1_chr1_229426245_229439094 | 229435461 | CCTCTCTC others(17): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(14): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0004t0001g0011 |
17 | 99 | 0.1717 | -24 | c.-14 others(35): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73894705 | GAGCTTGG others(17): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(172): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0068 others(165): Show |
175 | 414 | 0.4227 | -24 | c.-37 others(41): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904767 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG02451.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0231 a0001c0001t0005g0032 |
2 | 272 | 0.0074 | -24 | c.255 others(41): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904771 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG03579.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0351 a0001c0001t0004g0390 a0001c0001t0007g0036 |
3 | 412 | 0.0073 | -24 | c.255 others(41): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8692549 | AGAAGGAA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01168.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 329 | 0.0122 | -24 | c.*48 others(35): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 4850 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38699734 | GACAGAGC others(17): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0197 | 1 | 312 | 0.0032 | -24 | c.163 others(39): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTR1A_chr10_102474229_102507712 | 102503801 | AGACCAAG others(17): Show |
A | upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 386 | 0.0026 | -24 | c.-11 others(35): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1090 | chr10 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665721 | CTCTCTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 366 | 0.0027 | -24 | c.-18 others(35): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1678 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97665723 | CTCTCTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 363 | 0.0028 | -24 | c.-18 others(35): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1680 | chr2 | TogoVar |