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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UNKL_chr16_1358205_1419704 | 1373016 | AACACCGC others(46): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0014 | a0001c0014t0030 | a0001c0014t0030g0013 | 1 | 322 | 0.0031 | -53 | c.126 others(72): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
USP11_chrX_47228009_47253328 | 47233763 | CTGAGGGG others(46): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(59): Show | 124 | 282 | 0.4397 | -53 | c.176 others(68): Show |
USP11 | ENSG00000102226.10 | transcript | ENST00000377107.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
USP32_chr17_60172327_60397133 | 60298088 | CTCCACCC others(46): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01952.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(3): Show | 6 | 152 | 0.0395 | -53 | c.293 others(70): Show |
USP32 | ENSG00000170832.13 | transcript | ENST00000300896.9 | protein_coding | 3/33 | chr17 | TogoVar | ||||||
USP34_chr2_61182463_61476087 | 61434299 | CCACATCC others(46): Show |
C | intron_variant | MODIFIER | NA18966.hp1 NA18979.hp2 NA18988.hp2 others(4): Show |
a0001 | a0001c0007 | a0001c0007t0001a0001c0007t0006 | a0001c0007t0001g0244a0001c0007t0001g0245a0001c0007t0001g0246others(4): Show | 7 | 312 | 0.0224 | -53 | c.44- others(70): Show |
USP34 | ENSG00000115464.15 | transcript | ENST00000398571.7 | protein_coding | 1/79 | chr2 | TogoVar | ||||||
USP40_chr2_233470526_233571782 | 233567036 | TCTTATAT others(46): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02258.hp1 HG02698.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(4): Show | a0001c0001t0001g0110a0001c0001t0001g0202a0001c0001t0001g0224others(17): Show | 21 | 324 | 0.0648 | -53 | c.-42 others(62): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 255 | chr2 | TogoVar | ||||||
VAC14_chr16_70682439_70806158 | 70703365 | AGGGGACC others(46): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0169 | 2 | 322 | 0.0062 | -53 | c.166 others(72): Show |
VAC14 | ENSG00000103043.15 | transcript | ENST00000261776.10 | protein_coding | 14/18 | chr16 | TogoVar | ||||||
VGLL4_chr3_11551069_11648915 | 11573262 | AGAAAGAA others(46): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 388 | 0.0026 | -53 | c.273 others(70): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2867800 | AAAGACAG others(46): Show |
A | downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 408 | 0.0025 | -53 | c.*12 others(64): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1069 | chr20 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 659649 | AGTCCTAA others(46): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0049 | 1 | 232 | 0.0043 | -53 | c.372 others(70): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 5/21 | chr17 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100462900 | GCTTCCTC others(46): Show |
G | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0104 | 1 | 228 | 0.0044 | -53 | c.823 others(70): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
WRAP53_chr17_7683477_7708502 | 7699456 | ATTTATAT others(46): Show |
A | intron_variant | MODIFIER | NA18997.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 384 | 0.0026 | -53 | c.643 others(70): Show |
WRAP53 | ENSG00000141499.18 | transcript | ENST00000396463.7 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
WSCD2_chr12_108124288_108255537 | 108136722 | CCCGTGTT others(46): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG03209.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0034 | a0001c0001t0025g0033a0001c0001t0034g0031a0001c0001t0034g0032 | 3 | 284 | 0.0106 | -53 | c.-55 others(72): Show |
WSCD2 | ENSG00000075035.10 | transcript | ENST00000547525.6 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
YJU2_chr19_4242080_4274088 | 4247583 | GTGTGTGT others(46): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 384 | 0.0026 | -53 | c.24+ others(66): Show |
YJU2 | ENSG00000105248.16 | transcript | ENST00000262962.12 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
YME1L1_chr10_27105111_27159384 | 27106771 | TATATATA others(46): Show |
T | downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 388 | 0.0026 | -53 | c.*51 others(64): Show |
YME1L1 | ENSG00000136758.20 | transcript | ENST00000376016.8 | protein_coding | 3339 | chr10 | TogoVar | ||||||
YWHAE_chr17_1339275_1405222 | 1404008 | TGGAAAGA others(46): Show |
T | upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 | 1 | 373 | 0.0027 | -53 | c.-39 others(64): Show |
YWHAE | ENSG00000108953.17 | transcript | ENST00000264335.13 | protein_coding | 3787 | chr17 | TogoVar | ||||||
ZBTB46_chr20_63738670_63836264 | 63824702 | TCCCCCAT others(46): Show |
T | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 316 | 0.0032 | -53 | c.-34 others(70): Show |
ZBTB46 | ENSG00000130584.12 | transcript | ENST00000245663.9 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
ZC3H12C_chr11_110088392_110176841 | 110156113 | CATTATAT others(46): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(238): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0027others(214): Show | 241 | 364 | 0.6621 | -53 | c.913 others(70): Show |
ZC3H12C | ENSG00000149289.11 | transcript | ENST00000278590.8 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157420190 | AAGGCACT others(46): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0030 | 1 | 188 | 0.0053 | -53 | c.245 others(72): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ZDHHC8_chr22_20126804_20153007 | 20145106 | CCCCACAA others(46): Show |
C | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0058 | 1 | 404 | 0.0025 | -53 | c.212 others(69): Show |
ZDHHC8 | ENSG00000099904.16 | transcript | ENST00000334554.12 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ZFAND3_chr6_37814727_38159624 | 38041737 | TCCTCCTC others(46): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0253 | 1 | 318 | 0.0031 | -53 | c.113 others(72): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
ZFAND3_chr6_37814727_38159624 | 38041740 | TCCTCCTC others(46): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 318 | 0.0031 | -53 | c.113 others(72): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
ZFAND3_chr6_37814727_38159624 | 38041743 | TCCTCCTC others(46): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0251a0001c0001t0005g0259 | 2 | 318 | 0.0063 | -53 | c.113 others(72): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
ZFAND3_chr6_37814727_38159624 | 38041749 | TCCTCCTC others(46): Show |
T | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 318 | 0.0031 | -53 | c.113 others(72): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
ZFC3H1_chr12_71604599_71668848 | 71650420 | AAAATTAT others(46): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 324 | 0.0031 | -53 | c.101 others(72): Show |
ZFC3H1 | ENSG00000133858.17 | transcript | ENST00000378743.9 | protein_coding | 2/34 | chr12 | TogoVar | ||||||
ZGPAT_chr20_63703039_63741142 | 63731533 | GTGTGTAA others(46): Show |
G | intron_variant | MODIFIER | HG03654.hp1 HG04228.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0037a0002c0002t0002g0038 | 2 | 346 | 0.0058 | -53 | c.585 others(70): Show |
ZGPAT | ENSG00000197114.12 | transcript | ENST00000355969.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ZMAT3_chr3_179012223_179076809 | 179031960 | CCTCCTCC others(46): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0120 | 1 | 350 | 0.0029 | -53 | c.271 others(69): Show |
ZMAT3 | ENSG00000172667.11 | transcript | ENST00000311417.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
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 | a0001c0001t0001g0173a0001c0001t0001g0224a0001c0001t0001g0226others(1): Show | 4 | 228 | 0.0175 | -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 | a0001c0001t0022g0035a0002c0002t0004g0081a0002c0002t0004g0082others(28): Show | 31 | 432 | 0.0718 | -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 | a0001c0001t0009a0001c0002t0003a0001c0002t0015others(11): Show | a0001c0001t0009g0018a0001c0001t0009g0102a0001c0002t0003g0002others(39): Show | 83 | 464 | 0.1789 | -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 | a0016 | a0016c0020 | a0016c0020t0005 | a0016c0020t0005g0032 | 1 | 404 | 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 | a0001c0001t0001g0015a0001c0001t0026g0029a0002c0002t0003g0003others(9): Show | 83 | 426 | 0.1948 | -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 | 426 | 0.0024 | -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 | 418 | 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 | a0001c0004t0001g0028 | 1 | 212 | 0.0047 | -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 |
a0001a0004a0008 | a0001c0001a0001c0006a0004c0013others(1): Show | a0001c0001t0000a0001c0006t0000a0004c0013t0000others(1): Show | a0001c0001t0000g0005a0001c0001t0000g0073a0001c0001t0000g0074others(15): Show | 46 | 466 | 0.0987 | -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 |
a0001a0003a0009 | a0001c0001a0001c0014a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0014t0003others(3): Show | a0001c0001t0002g0254a0001c0001t0003g0003a0001c0001t0003g0041others(32): Show | 51 | 388 | 0.1314 | -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(29): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0144a0001c0001t0001g0219a0001c0001t0002g0191others(28): Show | 32 | 252 | 0.1270 | -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 |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(14): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(80): Show | 84 | 252 | 0.3333 | -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 | a0008c0009t0002g0222 | 1 | 360 | 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 | a0001c0005t0001g0355a0005c0015t0002g0160 | 2 | 360 | 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 | a0002c0003t0001g0258 | 1 | 336 | 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 | a0001c0013t0006g0031 | 1 | 248 | 0.0040 | -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(14): Show | a0001c0001t0001g0135a0001c0001t0002g0081a0001c0001t0002g0223others(22): Show | 25 | 337 | 0.0742 | -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 | a0001c0001t0031a0001c0003t0083 | a0001c0001t0031g0240a0001c0001t0031g0241a0001c0003t0083g0285 | 3 | 337 | 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 | a0001c0001t0001g0026a0002c0002t0001g0128a0003c0008t0001g0049others(4): Show | 7 | 186 | 0.0376 | -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 | 186 | 0.0054 | -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 | a0001c0012t0001g0040 | 2 | 426 | 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 | a0001c0001t0001g0018a0001c0001t0001g0162a0001c0002t0001g0090others(2): Show | 5 | 295 | 0.0170 | -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 | a0001c0001t0002g0001a0001c0001t0002g0154a0001c0001t0003g0002others(1): Show | 5 | 295 | 0.0170 | -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 | 295 | 0.0034 | -52 | c.*34 others(63): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2334 | chr1 | TogoVar |