| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1_chr16_70247298_70294506 | 70274640 | CTTGAACC others(34): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 362 | 0.0028 | -41 | c.479 others(58): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
| AATK_chr17_81112295_81171221 | 81140659 | CGTGGGGC others(34): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0007 | a0007c0008 | a0007c0008t0015 | a0007c0008t0015g0201 | 1 | 368 | 0.0027 | -41 | c.56- others(56): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| AATK_chr17_81112295_81171221 | 81140667 | CGTGGGGA others(34): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(6): Show |
a0003a0006a0007others(1): Show | a0003c0003a0003c0007a0003c0020others(3): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(3): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(4): Show | 9 | 368 | 0.0245 | -41 | c.56- others(56): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| AATK_chr17_81112295_81171221 | 81156156 | TATCATGT others(34): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0007 | a0007c0008 | a0007c0008t0015 | a0007c0008t0015g0201 | 1 | 368 | 0.0027 | -41 | c.55+ others(56): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| ABCA1_chr9_104776006_104933155 | 104862671 | GGCCGGGC others(34): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0015 | a0002c0015t0002 | a0002c0015t0002g0315 | 1 | 318 | 0.0031 | -41 | c.422 others(56): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
| ABCA5_chr17_69239311_69332133 | 69251258 | CGTTCATT others(34): Show |
C | intron_variant | MODIFIER | NA19076.hp1 | a0013 | a0013c0019 | a0013c0019t0002 | a0013c0019t0002g0252 | 1 | 350 | 0.0029 | -41 | c.453 others(58): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 35/38 | chr17 | TogoVar | ||||||
| ABCA8_chr17_68862289_68960392 | 68958910 | TAATAATA others(34): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(135): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(26): Show | a0001c0001t0001g0028a0001c0001t0001g0129a0001c0001t0001g0157others(135): Show | 138 | 274 | 0.5037 | -41 | c.-38 others(52): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3519 | chr17 | TogoVar | ||||||
| ABCB5_chr7_20610667_20762008 | 20681040 | CTTTCTTT others(34): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0014 | a0002c0014t0003 | a0002c0014t0003g0049 | 1 | 360 | 0.0028 | -41 | c.170 others(58): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ABLIM1_chr10_114426112_114663275 | 114516059 | CCATTGTC others(34): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG02698.hp1 NA18612.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0013a0001c0001t0024others(5): Show | a0001c0001t0005g0038a0001c0001t0013g0177a0001c0001t0024g0180others(5): Show | 8 | 256 | 0.0313 | -41 | c.895 others(60): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1008060 | ATGGGACC others(34): Show |
A | intron_variant | MODIFIER | HG03927.hp2 HG04199.hp2 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0030 | a0001c0001t0015g0262a0001c0001t0015g0265a0001c0001t0015g0275others(3): Show | 6 | 337 | 0.0178 | -41 | c.234 others(58): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 21/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1032605 | CGTCCGTG others(34): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00735.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0074a0001c0001t0001g0159a0001c0001t0002g0081others(30): Show | 33 | 337 | 0.0979 | -41 | c.179 others(62): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
| ACAD11_chr3_132553141_132664809 | 132585108 | CAGTAACC others(34): Show |
C | intron_variant | MODIFIER | NA18997.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230a0001c0001t0001g0264 | 2 | 316 | 0.0063 | -41 | c.162 others(60): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 13/19 | chr3 | TogoVar | ||||||
| ACER3_chr11_76855918_77031797 | 76950370 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | HG02148.hp1 HG03471.hp1 NA18957.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0030a0001c0005t0154 | a0001c0001t0002g0171a0001c0001t0030g0015a0001c0005t0154g0204 | 3 | 346 | 0.0087 | -41 | c.215 others(58): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ACE_chr17_63472061_63503373 | 63501430 | TCTCTCCC others(34): Show |
T | downstream_gene_variant | MODIFIER | NA18951.hp1 NA18962.hp1 NA18980.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0075 | 6 | 374 | 0.0160 | -41 | c.*40 others(52): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 3058 | chr17 | TogoVar | ||||||
| ACMSD_chr2_134833616_134907034 | 134834857 | GAAGGAAG others(34): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0015a0001c0004t0001g0190 | 2 | 382 | 0.0052 | -41 | c.-38 others(52): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3758 | chr2 | TogoVar | ||||||
| ACOT7_chr1_6259272_6398767 | 6365004 | CAAGAGTG others(34): Show |
C | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 240 | 0.0042 | -41 | c.144 others(60): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| ACSM1_chr16_20618235_20702680 | 20635612 | CTTTCTTT others(34): Show |
C | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0127 | 1 | 318 | 0.0031 | -41 | c.129 others(60): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
| ACSM2B_chr16_20531226_20581367 | 20580423 | TAAGTGTA others(34): Show |
T | upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0003 | 1 | 388 | 0.0026 | -41 | c.-42 others(52): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 4057 | chr16 | TogoVar | ||||||
| ACTN4_chr19_38642649_38736589 | 38735697 | CGGGGGTT others(34): Show |
C | downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 314 | 0.0032 | -41 | c.*62 others(52): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4109 | chr19 | TogoVar | ||||||
| ACYP2_chr2_53966113_54310300 | 54197916 | TATTTTAT others(34): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG01099.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0133a0001c0001t0001g0144a0001c0001t0001g0178others(4): Show | 7 | 272 | 0.0257 | -41 | c.404 others(60): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | chr2 | TogoVar | ||||||
| ADAMTS6_chr5_65143738_65486920 | 65319714 | GGGAAGGG others(34): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02015.hp2 HG02630.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0028others(13): Show | 16 | 204 | 0.0784 | -41 | c.122 others(60): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
| ADAMTSL2_chr9_133529704_133580519 | 133564486 | GAGGGAGA others(34): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0118 | 1 | 152 | 0.0066 | -41 | c.174 others(60): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | chr9 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1236549 | CATCGGAG others(34): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 106 | 0.0094 | -41 | c.136 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1396754 | CAGGCTTC others(34): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0001g0045a0001c0001t0010g0013a0001c0001t0018g0027others(2): Show | 5 | 106 | 0.0472 | -41 | c.101 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1397062 | CGTCTCTC others(34): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0068 | 1 | 106 | 0.0094 | -41 | c.101 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1397269 | CCTCTCCC others(34): Show |
C | intron_variant | MODIFIER | HG02055.hp2 NA20805.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0044 | a0001c0001t0010g0013a0002c0002t0044g0049 | 2 | 106 | 0.0189 | -41 | c.101 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1397310 | TCTCTCCC others(34): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0101 | 1 | 106 | 0.0094 | -41 | c.101 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1397678 | GCCTCTCC others(34): Show |
G | intron_variant | MODIFIER | HG03041.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0049 | a0001c0001t0012g0009a0001c0001t0049g0040 | 2 | 106 | 0.0189 | -41 | c.101 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1397720 | CCTCTCCC others(34): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02055.hp2 others(11): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0005others(4): Show | a0001c0001t0010a0001c0001t0023a0001c0001t0029others(11): Show | a0001c0001t0010g0013a0001c0001t0023g0023a0001c0001t0029g0031others(11): Show | 14 | 106 | 0.1321 | -41 | c.101 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1397925 | CCTCTCCC others(34): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG03098.hp2 others(2): Show |
a0001a0008 | a0001c0001a0001c0007a0008c0013 | a0001c0001t0019a0001c0001t0036a0001c0007t0033others(2): Show | a0001c0001t0019g0038a0001c0001t0036g0072a0001c0007t0033g0041others(2): Show | 5 | 106 | 0.0472 | -41 | c.101 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1451630 | AAGGGGAC others(34): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0009 | a0009c0010 | a0009c0010t0006 | a0009c0010t0006g0014 | 1 | 106 | 0.0094 | -41 | c.101 others(60): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1519236 | GCATGCAT others(34): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0055 | 1 | 106 | 0.0094 | -41 | c.101 others(62): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133087071 | AGGGAACA others(34): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0032 | 1 | 368 | 0.0027 | -41 | c.-12 others(52): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 852 | chr10 | TogoVar | ||||||
| ADGRB1_chr8_142444649_142550007 | 142445818 | ATGACCAG others(34): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0029others(62): Show | 65 | 310 | 0.2097 | -41 | c.-45 others(52): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3830 | chr8 | TogoVar | ||||||
| ADGRB1_chr8_142444649_142550007 | 142445901 | TGAGCAGG others(34): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 310 | 0.0032 | -41 | c.-44 others(52): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3747 | chr8 | TogoVar | ||||||
| ADGRB1_chr8_142444649_142550007 | 142446381 | TAAGCTCA others(34): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0150a0001c0001t0002g0074 | 2 | 310 | 0.0065 | -41 | c.-39 others(52): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3267 | chr8 | TogoVar | ||||||
| ADGRB1_chr8_142444649_142550007 | 142446598 | ACGACCAG others(34): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0004a0001c0008a0001c0017others(2): Show | a0001c0004t0015a0001c0008t0003a0001c0017t0001others(2): Show | a0001c0004t0015g0011a0001c0008t0003g0013a0001c0017t0001g0008others(4): Show | 7 | 310 | 0.0226 | -41 | c.-37 others(52): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3050 | chr8 | TogoVar | ||||||
| ADGRG7_chr3_100604601_100700479 | 100605861 | TTCCTTCC others(34): Show |
T | upstream_gene_variant | MODIFIER | HG01257.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011 | 1 | 340 | 0.0029 | -41 | c.-39 others(52): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 3739 | chr3 | TogoVar | ||||||
| AFAP1_chr4_7753714_7944861 | 7847235 | GATGACCC others(34): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 318 | 0.0031 | -41 | c.335 others(58): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 4/17 | chr4 | TogoVar | ||||||
| AFG3L2_chr18_12323944_12382227 | 12331819 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 376 | 0.0027 | -41 | c.217 others(60): Show |
AFG3L2 | ENSG00000141385.12 | transcript | ENST00000269143.8 | protein_coding | 16/16 | chr18 | TogoVar | ||||||
| AFTPH_chr2_64519328_64598005 | 64576159 | GTATATAT others(34): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0010 | a0010c0013 | a0010c0013t0017 | a0010c0013t0017g0268 | 1 | 372 | 0.0027 | -41 | c.239 others(60): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGAP1_chr2_235489043_236136793 | 235573004 | TTCTTCTT others(34): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0014 | a0001c0001t0002g0047a0001c0002t0014g0076 | 2 | 98 | 0.0204 | -41 | c.163 others(60): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGMO_chr7_15195317_15567015 | 15529607 | AGTATATA others(34): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG03540.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0212a0002c0002t0001g0213a0002c0002t0001g0214 | 3 | 236 | 0.0127 | -41 | c.409 others(60): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGPAT2_chr9_136668143_136692457 | 136675403 | GGGCCAGC others(34): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01934.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0003others(3): Show | a0001c0001t0001g0142a0001c0001t0001g0155a0001c0001t0003g0225others(4): Show | 8 | 374 | 0.0214 | -41 | c.589 others(56): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
| ALDOB_chr9_101415560_101440774 | 101434971 | CTCACAAT others(34): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 418 | 0.0024 | -41 | c.-11 others(56): Show |
ALDOB | ENSG00000136872.21 | transcript | ENST00000647789.2 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
| ALLC_chr2_3653200_3707671 | 3690307 | CCCCCTCC others(34): Show |
C | intron_variant | MODIFIER | HG03453.hp2 HG03471.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0033a0006c0006t0001g0159 | 2 | 274 | 0.0073 | -41 | c.512 others(58): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALOXE3_chr17_8090900_8123514 | 8107924 | AGAAAGAA others(34): Show |
A | intron_variant | MODIFIER | HG02273.hp2 NA19058.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0390a0001c0002t0001g0298 | 2 | 422 | 0.0047 | -41 | c.168 others(58): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
| AMBRA1_chr11_46391414_46599023 | 46580961 | TTTTTGTA others(34): Show |
T | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 160 | 0.0063 | -41 | c.-12 others(62): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
| AMN_chr14_102917663_102935842 | 102934328 | ATTGGGAC others(34): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 452 | 0.0022 | -41 | c.*36 others(52): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 3487 | chr14 | TogoVar | ||||||
| ANKDD1A_chr15_64906902_64963691 | 64954040 | CTCTTCTT others(34): Show |
C | intron_variant | MODIFIER | HG02683.hp1 HG03710.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0249a0002c0003t0002g0306 | 2 | 338 | 0.0059 | -41 | c.148 others(60): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |