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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZMAT4_chr8_40525590_40902826 | 40601510 | AGAAAGAG others(46): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG03209.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0173 a0001c0001t0001g0224 a0001c0001t0001g0226 others(1): Show |
4 | 226 | 0.0177 | -53 | c.578 others(72): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
ZNF138_chr7_64789428_64838680 | 64818681 | CAGAGGTT others(46): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00673.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0022a0002c0002t0004a0002c0002t0007others(2): Show | a0001c0001t0022g0040 a0002c0002t0004g0081 a0002c0002t0004g0082 others(28): Show |
31 | 430 | 0.0721 | -53 | c.208 others(70): Show |
ZNF138 | ENSG00000197008.10 | transcript | ENST00000307355.12 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
ZNF155_chr19_43979188_44003326 | 43998006 | CATCACTT others(46): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(80): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0007a0001c0002t0003a0001c0002t0012others(11): Show | a0001c0001t0007g0017 a0001c0001t0007g0097 a0001c0002t0003g0002 others(37): Show |
83 | 462 | 0.1797 | -53 | c.*54 others(62): Show |
ZNF155 | ENSG00000204920.11 | transcript | ENST00000270014.7 | protein_coding | 5/5 | 542 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF225_chr19_44108399_44139822 | 44131295 | TGGAGAGA others(46): Show |
T | frameshift_variant | HIGH | HG03139.hp2 | a0014 | a0014c0020 | a0014c0020t0004 | a0014c0020t0004g0032 | 1 | 402 | 0.0025 | -53 | c.682 others(60): Show |
p.Gly others(5): Show |
ZNF225 | ENSG00000256294.8 | transcript | ENST00000262894.11 | protein_coding | 5/5 | 921/4447 | 682/2121 | 228/706 | chr19 | TogoVar | |||
ZNF230_chr19_43997957_44018924 | 43998006 | CATCACTT others(46): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0026a0002c0002t0003others(5): Show | a0001c0001t0001g0015 a0001c0001t0026g0029 a0002c0002t0003g0003 others(9): Show |
83 | 424 | 0.1958 | -53 | c.-51 others(64): Show |
ZNF230 | ENSG00000159882.13 | transcript | ENST00000429154.7 | protein_coding | 4950 | chr19 | TogoVar | |||||||
ZNF230_chr19_43997957_44018924 | 43998016 | GCTCCTGA others(46): Show |
G | upstream_gene_variant | MODIFIER | NA18997.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0003 | 1 | 292 | 0.0034 | -53 | c.-51 others(64): Show |
ZNF230 | ENSG00000159882.13 | transcript | ENST00000429154.7 | protein_coding | 4940 | chr19 | TogoVar | |||||||
ZNF24_chr18_35327227_35349420 | 35347874 | ATCCTGAT others(46): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 416 | 0.0024 | -53 | c.-36 others(64): Show |
ZNF24 | ENSG00000172466.16 | transcript | ENST00000261332.11 | protein_coding | 3455 | chr18 | TogoVar | |||||||
ZNF536_chr19_30367384_30563059 | 30383648 | TTCTTTCT others(46): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0027 | 1 | 210 | 0.0048 | -53 | c.-3+ others(70): Show |
ZNF536 | ENSG00000198597.10 | transcript | ENST00000355537.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF735_chr7_64202203_64225290 | 64204294 | GAAACTCT others(46): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(43): Show |
a0001a0004a0010 | a0001c0001a0001c0006a0004c0013others(1): Show | a0001c0001t0001a0001c0006t0001a0004c0013t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0070 others(13): Show |
46 | 464 | 0.0991 | -53 | c.-29 others(64): Show |
ZNF735 | ENSG00000223614.6 | transcript | ENST00000429565.5 | protein_coding | 2908 | chr7 | TogoVar | |||||||
ZNF93_chr19_19895946_19940575 | 19930529 | CTACTGCT others(46): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp2 others(48): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0012 | a0001c0001t0002a0001c0001t0003a0003c0003t0003others(1): Show | a0001c0001t0002g0254 a0001c0001t0003g0003 a0001c0001t0003g0041 others(30): Show |
51 | 386 | 0.1321 | -53 | c.227 others(70): Show |
ZNF93 | ENSG00000184635.17 | transcript | ENST00000343769.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2299007 | AGACAGAG others(45): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0144 a0001c0001t0001g0219 a0001c0001t0002g0191 others(27): Show |
31 | 248 | 0.1250 | -52 | c.174 others(69): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2299058 | TGGACAGA others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(81): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(14): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(80): Show |
84 | 243 | 0.3457 | -52 | c.174 others(69): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20681004 | TTCTTTCT others(45): Show |
T | intron_variant | MODIFIER | HG02027.hp1 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0184 | 1 | 358 | 0.0028 | -52 | c.170 others(69): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20681014 | CTTTCTTT others(45): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG06807.hp2 |
a0001a0005 | a0001c0005a0005c0015 | a0001c0005t0001a0005c0015t0002 | a0001c0005t0001g0353 a0005c0015t0002g0287 |
2 | 358 | 0.0056 | -52 | c.170 others(69): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99814196 | TGTATATA others(45): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0256 | 1 | 329 | 0.0030 | -52 | c.209 others(71): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95196582 | GAGGAAGG others(45): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0013 | a0001c0013t0006 | a0001c0013t0006g0029 | 1 | 57 | 0.0175 | -52 | c.116 others(71): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1045352 | ATCTTCTT others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0134 a0001c0001t0002g0080 a0001c0001t0002g0224 others(22): Show |
25 | 55 | 0.4545 | -52 | c.179 others(71): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1127219 | ACAGGACC others(45): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0031a0001c0003t0082 | a0001c0001t0031g0241 a0001c0001t0031g0242 a0001c0003t0082g0286 |
3 | 336 | 0.0089 | -52 | c.62- others(67): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107469962 | TTCTTTCT others(45): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01169.hp2 HG02257.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0008others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0008t0001others(4): Show | a0001c0001t0001g0026 a0002c0002t0001g0128 a0003c0008t0001g0064 others(4): Show |
7 | 173 | 0.0405 | -52 | c.113 others(73): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107469966 | TTCTTTCT others(45): Show |
T | intron_variant | MODIFIER | NA18989.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0035 | 1 | 176 | 0.0057 | -52 | c.113 others(73): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACADS_chr12_120720826_120745008 | 120741271 | TCTGCAGA others(45): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0041 | 2 | 423 | 0.0047 | -52 | c.*18 others(63): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 1264 | chr12 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289518 | TGCTCCGT others(45): Show |
T | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0023 a0001c0001t0001g0161 a0001c0002t0001g0088 others(2): Show |
5 | 291 | 0.0172 | -52 | c.*39 others(63): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2872 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289966 | CCCCGTGT others(45): Show |
C | downstream_gene_variant | MODIFIER | HG03688.hp1 NA18983.hp2 NA19005.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0001 a0001c0001t0002g0153 a0001c0001t0003g0002 others(1): Show |
5 | 283 | 0.0177 | -52 | c.*35 others(63): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2424 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1290056 | CCGTGTCT others(45): Show |
C | downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0010 | 1 | 294 | 0.0034 | -52 | c.*34 others(63): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2334 | chr1 | TogoVar | |||||||
ACIN1_chr14_23053564_23100136 | 23096720 | GTAGGCAC others(45): Show |
G | upstream_gene_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 1 | 348 | 0.0029 | -52 | c.-16 others(63): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 1585 | chr14 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126121391 | ATATATAA others(45): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0211 | 1 | 250 | 0.0040 | -52 | c.417 others(69): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70686844 | ACCTCCCG others(45): Show |
A | intron_variant | MODIFIER | NA19058.hp2 NA19084.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0130 a0002c0001t0001g0135 |
2 | 352 | 0.0057 | -52 | c.522 others(71): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77334081 | CAGTGTTA others(45): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(77): Show |
a0001a0003a0005others(11): Show | a0001c0001a0001c0016a0001c0023others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0037 others(77): Show |
80 | 261 | 0.3065 | -52 | c.185 others(71): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65230530 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 202 | 0.0050 | -52 | c.193 others(71): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65230703 | AATATATA others(45): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02027.hp1 NA18953.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0029 a0001c0001t0001g0083 a0001c0001t0001g0095 others(5): Show |
8 | 176 | 0.0455 | -52 | c.193 others(71): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24858161 | CTGGATTT others(45): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG02970.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0133 a0002c0001t0001g0135 |
2 | 270 | 0.0074 | -52 | c.825 others(71): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 3/21 | chr2 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146691425 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02895.hp2 HG03579.hp1 others(1): Show |
a0007a0011a0017 | a0007c0017a0011c0056a0017c0052others(1): Show | a0007c0017t0001a0011c0056t0001a0017c0052t0001others(1): Show | a0007c0017t0001g0230 a0011c0056t0001g0022 a0017c0052t0001g0011 others(1): Show |
4 | 173 | 0.0231 | -52 | c.148 others(69): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133124178 | GGCCACCC others(45): Show |
G | intron_variant | MODIFIER | HG02257.hp2 NA18959.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0043 | a0001c0002t0001g0159 a0001c0003t0043g0027 |
2 | 366 | 0.0055 | -52 | c.402 others(69): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68661355 | GTGTGTGT others(45): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01167.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 others(18): Show |
21 | 118 | 0.1780 | -52 | c.757 others(71): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68661407 | ATGTGTGT others(45): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0051 | 1 | 93 | 0.0108 | -52 | c.757 others(71): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68661432 | CATATATA others(45): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp2 HG01981.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0009 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0003t0001g0018 others(9): Show |
12 | 115 | 0.1043 | -52 | c.757 others(71): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131011103 | GCCCCACC others(45): Show |
G | intron_variant | MODIFIER | NA18986.hp1 NA19088.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0003a0001c0010t0007 | a0001c0002t0003g0033 a0001c0010t0007g0151 |
2 | 234 | 0.0085 | -52 | c.133 others(71): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131107426 | TGCTCTCC others(45): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0043 | a0001c0043t0008 | a0001c0043t0008g0227 | 1 | 231 | 0.0043 | -52 | c.188 others(71): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADRA1D_chr20_4215630_4254287 | 4227652 | TTCCTTCC others(45): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(16): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0007 | a0001c0001t0004a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0050 a0001c0001t0004g0311 others(12): Show |
19 | 450 | 0.0422 | -52 | c.111 others(71): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167971239 | CTTTCAAA others(45): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0096 | 1 | 324 | 0.0031 | -52 | c.*13 others(63): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 34/34 | 1329 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87022552 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0016 | a0001c0016t0069 | a0001c0016t0069g0090 | 1 | 292 | 0.0034 | -52 | c.39- others(69): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86827437 | ATATATGT others(45): Show |
A | intron_variant | MODIFIER | HG02738.hp1 HG03710.hp1 NA18979.hp1 |
a0001 | a0001c0006a0001c0008a0001c0057 | a0001c0006t0002a0001c0008t0001a0001c0057t0001 | a0001c0006t0002g0051 a0001c0008t0001g0006 a0001c0057t0001g0067 |
3 | 131 | 0.0229 | -52 | c.315 others(73): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49372607 | TTTTCTTT others(45): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp1 HG02622.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0083 others(7): Show |
10 | 24 | 0.4167 | -52 | c.283 others(73): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AGBL4_chr1_48527854_50028954 | 49377996 | TTGTCTCC others(45): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01943.hp1 HG02451.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0001g0068 others(10): Show |
13 | 104 | 0.1250 | -52 | c.283 others(73): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15322648 | AAATATAT others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02109.hp2 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0019 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0173 others(7): Show |
10 | 227 | 0.0441 | -52 | c.126 others(73): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354402 | GTGTACAC others(45): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp2 others(9): Show |
a0001a0002 | a0001c0005a0001c0007a0002c0002others(1): Show | a0001c0005t0001a0001c0007t0001a0002c0002t0001others(5): Show | a0001c0005t0001g0006 a0001c0005t0001g0007 a0001c0007t0001g0017 others(9): Show |
12 | 228 | 0.0526 | -52 | c.126 others(73): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGPAT2_chr9_136668143_136692457 | 136671235 | GGGCAGGC others(45): Show |
G | downstream_gene_variant | MODIFIER | HG03017.hp1 NA18747.hp2 NA18939.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017 | a0001c0001t0001g0190 a0001c0001t0004g0036 a0001c0001t0004g0037 others(5): Show |
10 | 370 | 0.0270 | -52 | c.*24 others(63): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 1907 | chr9 | TogoVar | |||||||
AGPAT2_chr9_136668143_136692457 | 136687516 | CGCCCCGC others(45): Show |
C | upstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 371 | 0.0027 | -52 | c.-21 others(61): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 60 | chr9 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177540031 | GTATATAT others(45): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0036 | 1 | 229 | 0.0044 | -52 | c.*18 others(63): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 20/20 | 1848 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGTPBP1_chr9_85541539_85746954 | 85690682 | GGTATGGT others(45): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG01975.hp1 HG02280.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0003c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0025 others(10): Show |
13 | 299 | 0.0435 | -52 | c.157 others(69): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar |