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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACLY_chr17_41861918_41923951 | 41900078 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0032a0002c0002t0006g0033 | 2 | 294 | 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 | a0001c0002t0045 | a0001c0002t0045g0016 | 1 | 382 | 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 | a0001c0001t0001g0212a0001c0002t0001g0030 | 2 | 334 | 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 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0056 | 1 | 388 | 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 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0183 | 1 | 388 | 0.0026 | -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 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0003a0001c0006t0008g0298 | 2 | 388 | 0.0052 | -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 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0146a0001c0006t0008g0343 | 2 | 388 | 0.0052 | -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 | a0002c0002t0006g0163a0002c0002t0006g0164a0002c0002t0006g0165others(1): Show | 4 | 388 | 0.0103 | -24 | c.885 others(39): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr1 | 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 | a0001c0001t0002g0064a0001c0001t0002g0093a0001c0001t0003g0038others(1): Show | 4 | 344 | 0.0116 | -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 | a0001c0001t0002g0065 | 1 | 344 | 0.0029 | -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 | a0001c0001t0002a0001c0001t0049a0001c0001t0057 | a0001c0001t0002g0111a0001c0001t0002g0282a0001c0001t0049g0045others(1): Show | 4 | 344 | 0.0116 | -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 | a0001c0001t0002g0059a0001c0001t0002g0068a0001c0001t0005g0276others(1): Show | 4 | 344 | 0.0116 | -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 | a0001c0003t0012g0007a0001c0003t0012g0008a0002c0002t0001g0260others(2): Show | 5 | 344 | 0.0145 | -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 | a0001c0001t0019g0113a0001c0003t0012g0009 | 2 | 344 | 0.0058 | -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 | a0002c0002t0001a0002c0002t0064a0002c0002t0074 | a0002c0002t0001g0194a0002c0002t0064g0270a0002c0002t0074g0213 | 3 | 344 | 0.0087 | -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 |
a0002a0007 | a0002c0002a0007c0015 | a0002c0002t0001a0007c0015t0001 | a0002c0002t0001g0148a0002c0002t0001g0269a0007c0015t0001g0300 | 3 | 344 | 0.0087 | -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 | a0001c0001t0026g0101a0002c0002t0001g0169a0002c0002t0001g0182others(1): Show | 4 | 344 | 0.0116 | -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 | a0002c0002t0001g0150a0002c0002t0001g0161a0002c0002t0001g0192others(4): Show | 7 | 344 | 0.0204 | -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 | a0002c0002t0001a0002c0002t0028 | a0002c0002t0001g0248a0002c0002t0001g0250a0002c0002t0001g0266others(2): Show | 5 | 344 | 0.0145 | -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 | a0002c0002t0001g0249 | 1 | 344 | 0.0029 | -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 | a0001c0001t0001g0120a0001c0001t0001g0140a0001c0001t0001g0141others(2): Show | 5 | 364 | 0.0137 | -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 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0018others(24): Show | 33 | 364 | 0.0907 | -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 | 364 | 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 |
a0001a0010 | a0001c0002a0010c0013 | a0001c0002t0001a0010c0013t0001 | a0001c0002t0001g0235a0010c0013t0001g0263 | 2 | 364 | 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 | a0001c0002t0001g0255 | 1 | 364 | 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 | a0001c0001t0001g0277 | 1 | 380 | 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 | a0001c0001t0001a0001c0001t0002a0004c0005t0007 | a0001c0001t0001g0042a0001c0001t0001g0117a0001c0001t0001g0121others(4): Show | 7 | 150 | 0.0467 | -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 | a0001c0001a0001c0017a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0017t0002others(3): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0031others(19): Show | 22 | 150 | 0.1467 | -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 | a0002c0002t0001g0186a0002c0002t0004g0154a0002c0002t0004g0155 | 3 | 350 | 0.0086 | -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 | a0002c0005t0006g0231 | 1 | 350 | 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 |
a0002a0012 | a0002c0002a0012c0021 | a0002c0002t0001a0012c0021t0001 | a0002c0002t0001g0072a0002c0002t0001g0099a0002c0002t0001g0101others(5): Show | 8 | 262 | 0.0305 | -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 | a0001c0002t0001g0132a0001c0002t0001g0133a0001c0002t0001g0255others(2): Show | 5 | 320 | 0.0156 | -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 | 320 | 0.0031 | -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 | a0001c0001t0002g0313 | 1 | 364 | 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 | a0001c0001t0002g0187 | 1 | 318 | 0.0031 | -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 | a0001c0002t0001g0072a0001c0002t0001g0212a0001c0002t0001g0213others(9): Show | 12 | 318 | 0.0377 | -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 |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0002g0191a0001c0001t0002g0195a0001c0001t0002g0197others(19): Show | 22 | 318 | 0.0692 | -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 | a0001c0001t0007g0301a0001c0001t0007g0302 | 2 | 434 | 0.0046 | -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 | 290 | 0.0035 | -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 | a0001c0001t0003g0181a0001c0001t0003g0206a0001c0001t0003g0207others(67): Show | 70 | 290 | 0.2414 | -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 | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0004t0001g0012 | 17 | 450 | 0.0378 | -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 | a0001c0001t0001g0016a0001c0001t0001g0027a0001c0001t0001g0064others(167): Show | 175 | 416 | 0.4207 | -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 | a0001c0001t0003g0229a0001c0001t0005g0028 | 2 | 416 | 0.0048 | -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 | a0001c0001t0001g0353a0001c0001t0004g0394a0001c0001t0007g0032 | 3 | 416 | 0.0072 | -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 | 356 | 0.0112 | -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 | 314 | 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 | 388 | 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 | a0001c0002t0002g0020 | 1 | 398 | 0.0025 | -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 | a0001c0002t0002g0020 | 1 | 398 | 0.0025 | -24 | c.-18 others(35): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1680 | chr2 | TogoVar | ||||||
ACTR1B_chr2_97650939_97669044 | 97665727 | CTCTCTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 3 | 398 | 0.0075 | -24 | c.-18 others(35): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1684 | chr2 | TogoVar |