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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||
UBE2U_chr1_64198623_64272368 | 64239122 | A | AGAAGGAA others(39): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02698.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043a0001c0001t0002g0253a0001c0001t0002g0260 | 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 | |||||
UBR1_chr15_42937897_43111038 | 43005362 | A | ATCTGGGA others(39): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0015 | a0015c0012 | a0015c0012t0003 | a0015c0012t0003g0254 | 1 | 276 | 0.0036 | 46 | c.341 others(65): Show |
UBR1 | ENSG00000159459.12 | transcript | ENST00000290650.9 | protein_coding | 30/46 | chr15 | TogoVar | ||||||
UBR1_chr15_42937897_43111038 | 43005378 | A | AGGGGCAG others(39): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(214): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(214): Show | 217 | 276 | 0.7862 | 46 | c.341 others(65): Show |
UBR1 | ENSG00000159459.12 | transcript | ENST00000290650.9 | protein_coding | 30/46 | chr15 | TogoVar | ||||||
UBR1_chr15_42937897_43111038 | 43005391 | G | GCCTGGCC others(39): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0021 | a0001c0021t0003 | a0001c0021t0003g0112 | 1 | 276 | 0.0036 | 46 | c.341 others(65): Show |
UBR1 | ENSG00000159459.12 | transcript | ENST00000290650.9 | protein_coding | 30/46 | chr15 | TogoVar | ||||||
UBR2_chr6_42559029_42698505 | 42614332 | A | ATGTGTAT others(39): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0098 | 1 | 342 | 0.0029 | 46 | c.986 others(61): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 8/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UBR3_chr2_169822454_170089131 | 169831107 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0163 | 1 | 324 | 0.0031 | 46 | c.545 others(63): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBR3_chr2_169822454_170089131 | 169890555 | A | ATATACAT others(39): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0016 | a0001c0003t0005g0247a0001c0003t0005g0251a0001c0003t0016g0248others(1): Show | 4 | 324 | 0.0124 | 46 | c.103 others(63): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBR3_chr2_169822454_170089131 | 169890555 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02155.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0002a0001c0021 | a0001c0002t0002a0001c0002t0007a0001c0021t0002 | a0001c0002t0002g0136a0001c0002t0002g0144a0001c0002t0002g0146others(5): Show | 8 | 324 | 0.0247 | 46 | c.103 others(63): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBR3_chr2_169822454_170089131 | 169890555 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0170 | 1 | 324 | 0.0031 | 46 | c.103 others(63): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBR3_chr2_169822454_170089131 | 169890555 | A | ATATATGT others(39): Show |
intron_variant | MODIFIER | HG02055.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172a0001c0002t0002g0173 | 2 | 324 | 0.0062 | 46 | c.103 others(63): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |