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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TSPEAR_chr21_44492893_44716572 | 44503199 | A | AGGGGGGA others(39): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 294 | 0.0034 | 46 | c.185 others(65): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/11 | chr21 | TogoVar | ||||||
TSPEAR_chr21_44492893_44716572 | 44504238 | C | CAGCGGGA others(39): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0007 | a0001c0007t0020 | a0001c0007t0020g0012 | 1 | 294 | 0.0034 | 46 | c.185 others(63): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/11 | chr21 | TogoVar | ||||||
TSR1_chr17_2317396_2341457 | 2338774 | A | AATATATA others(39): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 HG02109.hp2 NA18747.hp2 others(3): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0027others(1): Show | 6 | 408 | 0.0147 | 46 | c.-23 others(57): Show |
TSR1 | ENSG00000167721.11 | transcript | ENST00000301364.10 | protein_coding | 2318 | chr17 | TogoVar | ||||||
TTC21B_chr2_165868362_165958776 | 165947169 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 408 | 0.0025 | 46 | c.263 others(63): Show |
TTC21B | ENSG00000123607.16 | transcript | ENST00000243344.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
TTC28_chr22_27973014_28684840 | 28371509 | C | CAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0011 | a0001c0011t0018 | a0001c0011t0018g0009 | 1 | 196 | 0.0051 | 46 | c.382 others(65): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 2/22 | chr22 | TogoVar | ||||||
TTC28_chr22_27973014_28684840 | 28371590 | A | ATTTTTTT others(39): Show |
intron_variant | MODIFIER | NA18961.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0094a0001c0001t0004g0079 | 2 | 196 | 0.0102 | 46 | c.382 others(65): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 2/22 | chr22 | TogoVar | ||||||
TTC29_chr4_146701617_146950864 | 146708308 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03195.hp1 |
a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0001a0005c0006t0003g0011 | 2 | 292 | 0.0069 | 46 | c.133 others(63): Show |
TTC29 | ENSG00000137473.19 | transcript | ENST00000325106.9 | protein_coding | 11/12 | chr4 | TogoVar | ||||||
TTK_chr6_79999649_80047527 | 80000135 | A | ATATATAT others(39): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 328 | 0.0031 | 46 | c.-45 others(57): Show |
TTK | ENSG00000112742.10 | transcript | ENST00000369798.7 | protein_coding | 4513 | chr6 | TogoVar | ||||||
TTLL11_chr9_121810674_122098308 | 121826555 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG01261.hp2 NA20129.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0005a0004c0005t0057 | a0001c0001t0005g0149a0004c0005t0057g0043 | 2 | 174 | 0.0115 | 46 | c.184 others(65): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 8/8 | chr9 | TogoVar | ||||||
TTLL12_chr22_43161622_43192134 | 43187184 | C | CCCCGCCC others(39): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 HG01109.hp2 |
a0001 | a0001c0006a0001c0020 | a0001c0006t0003a0001c0020t0006 | a0001c0006t0003g0131a0001c0020t0006g0130 | 2 | 394 | 0.0051 | 46 | c.-11 others(55): Show |
TTLL12 | ENSG00000100304.13 | transcript | ENST00000216129.7 | protein_coding | 51 | chr22 | TogoVar | ||||||
TTLL12_chr22_43161622_43192134 | 43187211 | C | CCCCCGCC others(39): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0307 | 1 | 394 | 0.0025 | 46 | c.-14 others(55): Show |
TTLL12 | ENSG00000100304.13 | transcript | ENST00000216129.7 | protein_coding | 78 | chr22 | TogoVar | ||||||
TTLL12_chr22_43161622_43192134 | 43187238 | C | CCCCCGCC others(39): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 HG03579.hp2 NA18945.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0003a0001c0002t0010others(1): Show | a0001c0002t0001g0001a0001c0002t0003g0120a0001c0002t0010g0142others(1): Show | 4 | 394 | 0.0102 | 46 | c.-17 others(55): Show |
TTLL12 | ENSG00000100304.13 | transcript | ENST00000216129.7 | protein_coding | 105 | chr22 | TogoVar | ||||||
TTLL5_chr14_75656246_75960079 | 75914033 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0153 | 1 | 198 | 0.0051 | 46 | c.382 others(67): Show |
TTLL5 | ENSG00000119685.20 | transcript | ENST00000298832.14 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TTLL6_chr17_48757234_48822229 | 48810823 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01070.hp1 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(4): Show | 7 | 330 | 0.0212 | 46 | c.104 others(63): Show |
TTLL6 | ENSG00000170703.16 | transcript | ENST00000393382.8 | protein_coding | 1/15 | chr17 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028952 | A | ACCCCCAT others(39): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0161 | 1 | 224 | 0.0045 | 46 | c.225 others(65): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029147 | A | ACCCCCAC others(39): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0099 | 1 | 224 | 0.0045 | 46 | c.225 others(65): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TVP23A_chr16_10761675_10823794 | 10820474 | A | ATATATAT others(39): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299 | 1 | 410 | 0.0024 | 46 | c.-19 others(57): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1681 | chr16 | TogoVar | ||||||
TVP23A_chr16_10761675_10823794 | 10820478 | A | ATATATAT others(39): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0311 | 1 | 410 | 0.0024 | 46 | c.-19 others(57): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1685 | chr16 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870178 | A | ACACACAC others(39): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01069.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0095others(18): Show | 22 | 338 | 0.0651 | 46 | c.*35 others(65): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870189 | A | ACACCCCA others(39): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 338 | 0.0030 | 46 | c.*35 others(65): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870770 | C | CACCACAC others(39): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 338 | 0.0030 | 46 | c.*35 others(65): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870794 | A | ACACTCCA others(39): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG02135.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0001g0156others(3): Show | 6 | 338 | 0.0178 | 46 | c.*35 others(65): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870987 | A | ACACCCCA others(39): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0299 | 2 | 338 | 0.0059 | 46 | c.*35 others(65): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238904143 | A | AGTGTGTG others(39): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0023others(55): Show | 58 | 338 | 0.1716 | 46 | c.*36 others(63): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TXLNG_chrX_16781466_16849519 | 16830830 | C | CGTGTGTG others(39): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02970.hp1 HG03491.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0199a0001c0001t0001g0217a0001c0001t0001g0242others(4): Show | 7 | 264 | 0.0265 | 46 | c.864 others(63): Show |
TXLNG | ENSG00000086712.13 | transcript | ENST00000380122.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
TXNDC16_chr14_52425596_52557505 | 52480982 | T | TATGTATA others(39): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0138 | 1 | 238 | 0.0042 | 46 | c.131 others(65): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 14/20 | chr14 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0288 | 1 | 302 | 0.0033 | 46 | c.243 others(63): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TYW1_chr7_66991833_67244514 | 67029399 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 364 | 0.0028 | 46 | c.984 others(63): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TYW1_chr7_66991833_67244514 | 67029401 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01358.hp1 HG02155.hp1 others(8): Show |
a0001a0007 | a0001c0001a0007c0019 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0264a0001c0001t0001g0267a0001c0001t0001g0268others(8): Show | 11 | 364 | 0.0302 | 46 | c.984 others(63): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TYW1_chr7_66991833_67244514 | 67029407 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03017.hp2 HG04115.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0128a0001c0001t0001g0131others(1): Show | 4 | 364 | 0.0110 | 46 | c.984 others(63): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TYW1_chr7_66991833_67244514 | 67029409 | G | GTGTATAT others(39): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 364 | 0.0028 | 46 | c.984 others(63): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TYW1_chr7_66991833_67244514 | 67029409 | G | GTGTATAT others(39): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19058.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0160a0001c0001t0001g0169 | 3 | 364 | 0.0082 | 46 | c.984 others(63): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TYW1_chr7_66991833_67244514 | 67029410 | T | TACATATA others(39): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 364 | 0.0028 | 46 | c.984 others(63): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | chr7 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70712051 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG00609.hp2 HG03017.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0032a0001c0003t0002g0033 | 2 | 310 | 0.0065 | 46 | c.79- others(63): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70712064 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0005 | a0005c0012 | a0005c0012t0004 | a0005c0012t0004g0259 | 1 | 310 | 0.0032 | 46 | c.79- others(63): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70712064 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0261 | 1 | 310 | 0.0032 | 46 | c.79- others(63): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99330458 | C | CAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 380 | 0.0026 | 46 | c.562 others(63): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UBAP1_chr9_34174043_34257523 | 34202624 | C | CCTGTGTG others(39): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01981.hp1 NA18944.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0031a0001c0001t0001g0042others(2): Show | 5 | 342 | 0.0146 | 46 | c.-7- others(63): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 33981184 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0248a0002c0001t0002g0250 | 2 | 356 | 0.0056 | 46 | c.520 others(63): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 33981226 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0048 | 1 | 356 | 0.0028 | 46 | c.520 others(63): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 33981226 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02818.hp1 HG02922.hp2 others(2): Show |
a0002a0008 | a0002c0001a0008c0010 | a0002c0001t0002a0008c0010t0002 | a0002c0001t0002g0055a0002c0001t0002g0056a0002c0001t0002g0058others(2): Show | 5 | 356 | 0.0140 | 46 | c.520 others(63): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG01258.hp2 HG03942.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0183a0001c0003t0001g0316 | 2 | 356 | 0.0056 | 46 | c.-42 others(65): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02040.hp2 HG02129.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0176a0001c0002t0001g0177a0001c0002t0001g0178others(5): Show | 8 | 356 | 0.0225 | 46 | c.-42 others(65): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02056.hp2 NA19003.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0172a0001c0003t0001g0284a0001c0003t0001g0291 | 3 | 356 | 0.0084 | 46 | c.-42 others(65): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 34035514 | A | AAAAAATA others(39): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18944.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0288a0001c0003t0001g0328 | 2 | 356 | 0.0056 | 46 | c.-42 others(65): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | ||||||
UBC_chr12_124906646_124919650 | 124907752 | A | AATATATG others(39): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 446 | 0.0022 | 46 | c.*39 others(57): Show |
UBC | ENSG00000150991.16 | transcript | ENST00000339647.6 | protein_coding | 3893 | chr12 | TogoVar | ||||||
UBC_chr12_124906646_124919650 | 124907762 | T | TATATATA others(39): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0016t0002 | a0001c0001t0002g0018a0001c0001t0002g0032a0001c0016t0002g0023 | 5 | 446 | 0.0112 | 46 | c.*39 others(57): Show |
UBC | ENSG00000150991.16 | transcript | ENST00000339647.6 | protein_coding | 3883 | chr12 | TogoVar | ||||||
UBE2B_chr5_134366569_134397108 | 134376364 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 282 | 0.0036 | 46 | c.126 others(61): Show |
UBE2B | ENSG00000119048.9 | transcript | ENST00000265339.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
UBE2U_chr1_64198623_64272368 | 64239116 | A | AGAAGGAA others(39): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02273.hp1 NA18978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0139a0001c0001t0001g0140others(1): Show | 4 | 330 | 0.0121 | 46 | c.596 others(63): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
UBE2U_chr1_64198623_64272368 | 64239116 | A | AGAAGGAA others(39): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03486.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025a0001c0001t0003g0027a0001c0001t0003g0029 | 3 | 330 | 0.0091 | 46 | c.596 others(63): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |