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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOX1_chr17_75936507_75984166 | 75956951 | CTCTCTCT others(27): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0005 | a0003c0005t0017 | a0003c0005t0017g0041 | 1 | 344 | 0.0029 | -34 | c.538 others(49): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75956953 | CTCTCTCT others(27): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0082 | 1 | 344 | 0.0029 | -34 | c.538 others(49): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75967637 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(22): Show | a0001c0001t0002g0043a0001c0001t0003g0010a0001c0001t0003g0017others(43): Show | 46 | 344 | 0.1337 | -34 | c.270 others(51): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58510689 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01070.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(23): Show | 37 | 364 | 0.1017 | -34 | c.185 others(53): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110753141 | GCACCTCC others(27): Show |
G | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 150 | 0.0067 | -34 | c.-22 others(53): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACSBG2_chr19_6130667_6198091 | 6139420 | GCCACCTG others(27): Show |
G | intron_variant | MODIFIER | NA18974.hp2 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0246 | 1 | 262 | 0.0038 | -34 | c.-31 others(51): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627869 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0270 | 1 | 318 | 0.0031 | -34 | c.130 others(51): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20458899 | TATATGCA others(27): Show |
T | intron_variant | MODIFIER | HG04199.hp1 NA20300.hp2 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0003a0004c0004t0013 | a0003c0003t0003g0254a0004c0004t0013g0379 | 2 | 436 | 0.0046 | -34 | c.-8- others(49): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACTA1_chr1_229426245_229439094 | 229435461 | CCTCTCTC others(27): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp2 NA18950.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0007 | 4 | 450 | 0.0089 | -34 | c.-15 others(45): Show |
ACTA1 | ENSG00000143632.15 | transcript | ENST00000366684.7 | protein_coding | 1368 | chr1 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157826752 | AAAGGAAA others(27): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02897.hp1 others(8): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0002t0015a0001c0004t0009others(1): Show | a0001c0002t0003g0015a0001c0002t0003g0017a0001c0002t0003g0094others(8): Show | 11 | 174 | 0.0632 | -34 | c.-18 others(53): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACACACA others(27): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00738.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0108a0001c0001t0130a0001c0002t0003others(10): Show | a0001c0001t0108g0139a0001c0001t0130g0141a0001c0002t0003g0001others(20): Show | 28 | 410 | 0.0683 | -34 | c.*94 others(45): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9439 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACVR2B_chr3_38448890_38498142 | 38492771 | CACACACA others(27): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG02027.hp2 HG03098.hp1 others(7): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0012a0001c0003t0019a0001c0003t0076others(2): Show | a0001c0003t0012g0147a0001c0003t0012g0148a0001c0003t0012g0160others(5): Show | 10 | 410 | 0.0244 | -34 | c.*94 others(45): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9444 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACYP2_chr2_53966113_54310300 | 54137185 | CAACAGAA others(27): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0267a0001c0002t0003g0070a0001c0002t0003g0073others(3): Show | 6 | 272 | 0.0221 | -34 | c.295 others(51): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54201602 | TTCTTTCT others(27): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG06807.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0260a0001c0002t0003g0073a0001c0002t0003g0076 | 3 | 272 | 0.0110 | -34 | c.404 others(53): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADA2_chr22_17173790_17224435 | 17222472 | GTGTGTAT others(27): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(133): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(43): Show | a0001c0001t0001g0094a0001c0001t0001g0135a0001c0001t0001g0158others(131): Show | 136 | 408 | 0.3333 | -34 | c.-31 others(45): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3038 | chr22 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113683 | AAAAAATA others(27): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0006 | a0006c0045 | a0006c0045t0022 | a0006c0045t0022g0170 | 1 | 252 | 0.0040 | -34 | c.604 others(51): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113685 | AAAATATA others(27): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0010 | a0010c0058 | a0010c0058t0014 | a0010c0058t0014g0010 | 1 | 252 | 0.0040 | -34 | c.604 others(51): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9514518 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0161 | 1 | 234 | 0.0043 | -34 | c.119 others(53): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 10/18 | chr2 | TogoVar | ||||||
ADAM2_chr8_39738735_39843227 | 39840326 | TCATTACA others(27): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 329 | 0.0030 | -34 | c.-21 others(45): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 2100 | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39045079 | TGTGCATA others(27): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01123.hp2 others(27): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0005 | a0001c0001t0001a0001c0003t0001a0006c0005t0001 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(27): Show | 30 | 332 | 0.0904 | -34 | c.130 others(53): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39045080 | GTGCATAC others(27): Show |
G | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 332 | 0.0030 | -34 | c.130 others(53): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS12_chr5_33518535_33896990 | 33521396 | AATATATA others(27): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02723.hp1 others(3): Show |
a0003a0004a0018others(2): Show | a0003c0005a0003c0043a0004c0034others(3): Show | a0003c0005t0010a0003c0043t0010a0004c0034t0025others(3): Show | a0003c0005t0010g0193a0003c0043t0010g0042a0004c0034t0025g0194others(3): Show | 6 | 224 | 0.0268 | -34 | c.*57 others(45): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2138 | chr5 | TogoVar | ||||||
ADAMTS15_chr11_130443645_130481645 | 130470148 | ATATGTGT others(27): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0107 | 1 | 398 | 0.0025 | -34 | c.172 others(51): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 99977380 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | NA18975.hp2 NA19062.hp1 |
a0001a0002 | a0001c0005a0002c0001 | a0001c0005t0002a0002c0001t0002 | a0001c0005t0002g0075a0002c0001t0002g0059 | 2 | 228 | 0.0088 | -34 | c.295 others(53): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100225465 | GCAGTCCT others(27): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02970.hp1 HG03225.hp2 |
a0001 | a0001c0005a0001c0043 | a0001c0005t0009a0001c0005t0053a0001c0043t0052 | a0001c0005t0009g0015a0001c0005t0053g0222a0001c0043t0052g0124 | 3 | 228 | 0.0132 | -34 | c.107 others(55): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100225932 | TCTCTGTG others(27): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01106.hp2 others(3): Show |
a0001a0003a0009 | a0001c0002a0001c0005a0003c0015others(2): Show | a0001c0002t0007a0001c0002t0009a0001c0005t0072others(3): Show | a0001c0002t0007g0180a0001c0002t0009g0028a0001c0005t0072g0133others(3): Show | 6 | 228 | 0.0263 | -34 | c.107 others(55): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100226077 | CCCATTCA others(27): Show |
C | intron_variant | MODIFIER | HG01358.hp2 NA20805.hp1 |
a0003 | a0003c0006 | a0003c0006t0003a0003c0006t0045 | a0003c0006t0003g0027a0003c0006t0045g0115 | 2 | 228 | 0.0088 | -34 | c.107 others(55): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43402712 | TCTGCTGT others(27): Show |
T | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 306 | 0.0033 | -34 | c.428 others(53): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 942531 | GGAGTGAG others(27): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0003g0003 | 3 | 14 | 0.2143 | -34 | c.83- others(49): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45191862 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 350 | 0.0029 | -34 | c.156 others(53): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45191866 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG02683.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0114a0001c0002t0001others(4): Show | a0001c0001t0013g0087a0001c0001t0114g0079a0001c0002t0001g0053others(7): Show | 10 | 350 | 0.0286 | -34 | c.156 others(53): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45191868 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0023a0001c0001t0036others(34): Show | a0001c0001t0003g0060a0001c0001t0023g0192a0001c0001t0036g0133others(83): Show | 88 | 350 | 0.2514 | -34 | c.156 others(53): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45191870 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG03195.hp1 NA18962.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0086 | a0001c0002t0001g0073a0001c0009t0086g0051 | 2 | 350 | 0.0057 | -34 | c.156 others(53): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB2_chr10_1172313_1742525 | 1459975 | TGTAGCAA others(27): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 1 | 106 | 0.0094 | -34 | c.101 others(53): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1460080 | AACGAACC others(27): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02040.hp1 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0023a0002c0002t0007others(1): Show | a0001c0001t0001g0078a0001c0001t0023g0023a0002c0002t0007g0002others(2): Show | 5 | 106 | 0.0472 | -34 | c.101 others(53): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1460179 | TGTAACAA others(27): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 106 | 0.0094 | -34 | c.101 others(53): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1460454 | AACGAACC others(27): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 106 | 0.0094 | -34 | c.101 others(53): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1460862 | AACGAACC others(27): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0030 | 1 | 106 | 0.0094 | -34 | c.101 others(53): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADCY10_chr1_167804386_167919134 | 167897535 | AGAGAGAG others(27): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03098.hp1 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0007a0002c0020 | a0001c0004t0001a0002c0007t0002a0002c0020t0002 | a0001c0004t0001g0201a0002c0007t0002g0285a0002c0007t0002g0321others(1): Show | 4 | 326 | 0.0123 | -34 | c.643 others(49): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 6/32 | chr1 | TogoVar | ||||||
ADCY1_chr7_45569368_45728116 | 45632516 | AAAAATTC others(27): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG01106.hp1 others(31): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0001g0068others(31): Show | 34 | 278 | 0.1223 | -34 | c.102 others(53): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 4/19 | chr7 | TogoVar | ||||||
ADCY3_chr2_24814169_24925237 | 24912553 | GTGTGTGT others(27): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0021 | a0001c0021t0005 | a0001c0021t0005g0107 | 1 | 272 | 0.0037 | -34 | c.675 others(51): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
ADCY3_chr2_24814169_24925237 | 24912571 | GTGTGTGT others(27): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0016a0001c0002t0004g0017 | 2 | 272 | 0.0074 | -34 | c.675 others(51): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123324404 | CCACACAC others(27): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0096 | 1 | 260 | 0.0039 | -34 | c.208 others(51): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 8/20 | chr3 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130992382 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp2 NA19240.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0003a0001c0004t0004 | a0001c0003t0002g0197a0001c0004t0003g0195a0001c0004t0004g0196 | 3 | 246 | 0.0122 | -34 | c.961 others(51): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
ADD1_chr4_2838844_2935062 | 2852278 | CTTCTTTT others(27): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0263 | 1 | 320 | 0.0031 | -34 | c.-21 others(51): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 68661400 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0084 | 2 | 120 | 0.0167 | -34 | c.757 others(53): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 68817304 | CATGTATA others(27): Show |
C | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 120 | 0.0083 | -34 | c.758 others(55): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRD1_chr12_130948907_131146469 | 131046733 | CCCCTCCC others(27): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0239 | 1 | 242 | 0.0041 | -34 | c.147 others(55): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ADGRF5_chr6_46847522_46926938 | 46921838 | GAGAACCA others(27): Show |
G | 5_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0019 | a0003c0003t0019g0016 | 1 | 382 | 0.0026 | -34 | c.-18 others(43): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 1/21 | 15077 | chr6 | TogoVar | |||||
ADGRG7_chr3_100604601_100700479 | 100605918 | CTCTCTTT others(27): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 340 | 0.0029 | -34 | c.-39 others(45): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 3682 | chr3 | TogoVar |