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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TYW5_chr2_199923913_199960491 | 199935719 | AACACAC | A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02080.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0003g0062 a0001c0001t0006g0134 a0001c0001t0007g0172 others(3): Show |
7 | 98 | 0.0714 | -6 | c.691 others(21): Show |
TYW5 | ENSG00000162971.11 | transcript | ENST00000354611.9 | protein_coding | 7/7 | chr2 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55661499 | GACACAC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(133): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(114): Show |
136 | 188 | 0.7234 | -6 | c.486 others(21): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143046291 | TTTTTTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp2 others(76): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0093 a0001c0001t0002g0002 a0001c0001t0002g0004 others(70): Show |
79 | 376 | 0.2101 | -6 | c.254 others(25): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70653140 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00621.hp1 others(35): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(9): Show | a0001c0001t0001g0160 a0001c0001t0001g0182 a0001c0001t0003g0263 others(35): Show |
38 | 97 | 0.3918 | -6 | c.*39 others(17): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1413 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70718324 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00621.hp1 others(27): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0020others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0013others(5): Show | a0001c0001t0001g0181 a0001c0001t0001g0235 a0001c0003t0002g0010 others(27): Show |
30 | 46 | 0.6522 | -6 | c.79- others(23): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70749698 | CAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01346.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003a0001c0004t0014others(1): Show | a0001c0004t0001g0015 a0001c0004t0001g0122 a0001c0004t0003g0258 others(13): Show |
16 | 97 | 0.1649 | -6 | c.78+ others(23): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UAP1L1_chr9_137072517_137089538 | 137085367 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(35): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0019a0001c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0030 others(9): Show |
38 | 67 | 0.5672 | -6 | c.*26 others(17): Show |
UAP1L1 | ENSG00000197355.11 | transcript | ENST00000409858.8 | protein_coding | 830 | chr9 | TogoVar | |||||||
UBA1_chrX_47188829_47220128 | 47208272 | CGTGTGT | C | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG02809.hp1 others(3): Show |
a0001a0008 | a0001c0001a0001c0008a0008c0011 | a0001c0001t0001a0001c0008t0001a0008c0011t0001 | a0001c0001t0001g0027 a0001c0001t0001g0106 a0001c0008t0001g0046 others(2): Show |
6 | 18 | 0.3333 | -6 | c.193 others(25): Show |
UBA1 | ENSG00000130985.17 | transcript | ENST00000335972.11 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34434039 | AAAGTAT | A | intron_variant | MODIFIER | HG00280.hp1 HG01071.hp1 HG01175.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0048 others(2): Show |
6 | 318 | 0.0189 | -6 | c.358 others(21): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34456095 | CTTTTCT | C | intron_variant | MODIFIER | HG02683.hp2 HG02809.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0010g0027 |
3 | 318 | 0.0094 | -6 | c.124 others(25): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34458558 | CAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG00738.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0028 others(20): Show |
25 | 30 | 0.8333 | -6 | c.124 others(23): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA5_chr3_132655329_132684794 | 132668158 | AGTGTGT | A | intron_variant | MODIFIER | HG01175.hp1 HG02630.hp1 HG02965.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0002g0086 others(4): Show |
14 | 76 | 0.1842 | -6 | c.298 others(21): Show |
UBA5 | ENSG00000081307.15 | transcript | ENST00000356232.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBA5_chr3_132655329_132684794 | 132670849 | AATAATT | A | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0026 a0001c0001t0020g0026 |
3 | 336 | 0.0089 | -6 | c.495 others(21): Show |
UBA5 | ENSG00000081307.15 | transcript | ENST00000356232.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBA6_chr4_67607652_67706155 | 67704503 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG02148.hp2 HG03139.hp1 HG03195.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0033a0004c0009t0051 | a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0191 others(2): Show |
5 | 148 | 0.0338 | -6 | c.-33 others(17): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 3349 | chr4 | TogoVar | |||||||
UBAC1_chr9_135927969_135966373 | 135966313 | CCCTCAG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(234): Show |
369 | 376 | 0.9814 | -6 | c.-51 others(17): Show |
UBAC1 | ENSG00000130560.9 | transcript | ENST00000371756.4 | protein_coding | 4941 | chr9 | TogoVar | |||||||
UBAC2_chr13_99195854_99391504 | 99216082 | TTGTGTG | T | intron_variant | MODIFIER | HG01975.hp1 HG02056.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 others(5): Show |
8 | 50 | 0.1600 | -6 | c.31+ others(23): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99338041 | TTTTTTC | T | intron_variant | MODIFIER | HG02602.hp2 HG03139.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0323 others(3): Show |
6 | 368 | 0.0163 | -6 | c.562 others(23): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99387368 | GACACAC | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(76): Show |
79 | 94 | 0.8404 | -6 | c.*20 others(17): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 865 | chr13 | TogoVar | |||||||
UBALD1_chr16_4603884_4619888 | 4607462 | AAAAAAC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(41): Show |
229 | 338 | 0.6775 | -6 | c.*21 others(17): Show |
UBALD1 | ENSG00000153443.13 | transcript | ENST00000283474.12 | protein_coding | 1421 | chr16 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34195927 | GTTTTTT | G | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01358.hp2 others(20): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0137 a0001c0001t0002g0217 a0001c0001t0002g0223 others(20): Show |
23 | 59 | 0.3898 | -6 | c.-8+ others(23): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34196898 | TTGTGTG | T | intron_variant | MODIFIER | HG01123.hp1 HG02257.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0004g0327 |
3 | 73 | 0.0411 | -6 | c.-8+ others(23): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34202624 | CGTGTGT | C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01123.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0220 a0001c0001t0002g0249 a0001c0001t0002g0250 others(19): Show |
22 | 41 | 0.5366 | -6 | c.-7- others(23): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34218250 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01175.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0280 a0001c0001t0002g0289 a0001c0001t0003g0209 others(8): Show |
11 | 15 | 0.7333 | -6 | c.-7- others(21): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34220004 | CCCCCTA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00642.hp2 others(34): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 others(34): Show |
37 | 340 | 0.1088 | -6 | c.-7- others(19): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34226105 | TTGTGTG | T | intron_variant | MODIFIER | HG01168.hp2 HG02257.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0107 others(7): Show |
10 | 241 | 0.0415 | -6 | c.34+ others(21): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34231127 | ATGTGTG | A | intron_variant | MODIFIER | HG01175.hp1 HG02809.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0159 a0001c0001t0003g0211 a0001c0001t0005g0268 others(4): Show |
7 | 36 | 0.1944 | -6 | c.35- others(21): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 33936926 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(10): Show |
a0002 | a0002c0001a0002c0024 | a0002c0001t0004a0002c0024t0002 | a0002c0001t0004g0229 a0002c0001t0004g0231 a0002c0001t0004g0232 others(10): Show |
13 | 25 | 0.5200 | -6 | c.193 others(25): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33951332 | ATTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01257.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0004 | a0001c0002t0001g0223 a0002c0001t0004g0230 a0002c0001t0004g0231 others(3): Show |
6 | 11 | 0.5455 | -6 | c.105 others(25): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 12/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33954723 | TAAATAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(11): Show |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0228 a0002c0001t0004g0229 a0002c0001t0004g0230 others(11): Show |
14 | 354 | 0.0395 | -6 | c.867 others(23): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 11/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981064 | CATATAT | C | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00673.hp2 others(34): Show |
a0001a0002a0006others(1): Show | a0001c0003a0002c0001a0006c0008others(1): Show | a0001c0003t0001a0002c0001t0003a0006c0008t0001others(1): Show | a0001c0003t0001g0323 a0001c0003t0001g0344 a0001c0003t0001g0356 others(34): Show |
37 | 239 | 0.1548 | -6 | c.520 others(23): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981103 | GATATAT | G | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG01891.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0270 a0001c0003t0001g0274 a0001c0003t0001g0282 others(6): Show |
9 | 222 | 0.0405 | -6 | c.520 others(23): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33989203 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(10): Show |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0228 a0002c0001t0004g0229 a0002c0001t0004g0230 others(10): Show |
13 | 112 | 0.1161 | -6 | c.289 others(19): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 4/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33991303 | AAATAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(88): Show |
a0001a0004a0006others(4): Show | a0001c0003a0001c0023a0004c0005others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(9): Show | a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0268 others(88): Show |
91 | 354 | 0.2571 | -6 | c.289 others(23): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 4/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34016359 | GGCGGCA | G | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01516.hp1 others(24): Show |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0007t0001others(2): Show | a0001c0002t0001g0227 a0001c0002t0001g0258 a0001c0003t0001g0270 others(24): Show |
27 | 354 | 0.0763 | -6 | c.99+ others(19): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34019688 | TACACAC | T | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01071.hp1 others(19): Show |
a0001a0002a0016 | a0001c0003a0002c0001a0016c0026 | a0001c0003t0002a0002c0001t0002a0002c0001t0003others(1): Show | a0001c0003t0002g0281 a0002c0001t0002g0047 a0002c0001t0002g0048 others(19): Show |
22 | 100 | 0.2200 | -6 | c.-41 others(23): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34024631 | ATAACTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(196): Show |
a0001a0003a0004others(11): Show | a0001c0002a0001c0003a0001c0007others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(21): Show | a0001c0002t0001g0044 a0001c0002t0001g0129 a0001c0002t0001g0130 others(196): Show |
199 | 354 | 0.5621 | -6 | c.-41 others(23): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34039847 | TAAAAAA | T | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01071.hp1 others(27): Show |
a0002a0007a0016 | a0002c0001a0007c0010a0016c0026 | a0002c0001t0002a0002c0001t0007a0002c0001t0008others(2): Show | a0002c0001t0002g0047 a0002c0001t0002g0048 a0002c0001t0002g0049 others(27): Show |
30 | 57 | 0.5263 | -6 | c.-42 others(23): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBASH3A_chr21_42398902_42452684 | 42435981 | TTAGTTA | T | intron_variant | MODIFIER | HG02155.hp1 NA18970.hp2 NA19009.hp1 |
a0001 | a0001c0004a0001c0033 | a0001c0004t0001a0001c0033t0001 | a0001c0004t0001g0212 a0001c0004t0001g0224 a0001c0033t0001g0225 |
3 | 406 | 0.0074 | -6 | c.139 others(25): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UBASH3A_chr21_42398902_42452684 | 42447787 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(142): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0004others(27): Show | a0001c0002t0002a0001c0002t0003a0001c0003t0002others(32): Show | a0001c0002t0002g0043 a0001c0002t0002g0157 a0001c0002t0002g0162 others(113): Show |
145 | 305 | 0.4754 | -6 | c.*59 others(15): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 104 | chr21 | TogoVar | |||||||
UBASH3B_chr11_122650722_122819473 | 122683743 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG01099.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0150 a0001c0001t0002g0095 a0001c0001t0006g0148 others(24): Show |
27 | 249 | 0.1084 | -6 | c.161 others(25): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122683772 | TGTGTGA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0154 a0001c0001t0002g0034 a0001c0001t0002g0043 others(34): Show |
38 | 288 | 0.1319 | -6 | c.161 others(25): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122690167 | CATATAT | C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01106.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0118 a0001c0001t0002g0034 a0001c0001t0007g0027 others(13): Show |
16 | 154 | 0.1039 | -6 | c.161 others(25): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122690208 | ATCCAAT | A | intron_variant | MODIFIER | HG00609.hp2 HG01167.hp2 HG01891.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(14): Show | a0001c0001t0001g0150 a0001c0001t0006g0148 a0001c0001t0009g0215 others(14): Show |
17 | 283 | 0.0601 | -6 | c.161 others(25): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122699525 | TTCTTTC | T | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG00741.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0104 a0001c0001t0001g0154 a0001c0001t0001g0224 others(22): Show |
25 | 288 | 0.0868 | -6 | c.161 others(25): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122721898 | CTTCTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01361.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0013a0001c0002t0001a0002c0004t0001 | a0001c0001t0013g0193 a0001c0002t0001g0288 a0002c0004t0001g0243 |
3 | 288 | 0.0104 | -6 | c.162 others(25): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122725328 | CAAAAAA | C | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp1 HG03041.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(3): Show | a0001c0001t0001g0246 a0001c0001t0005g0226 a0001c0001t0021g0245 others(3): Show |
6 | 202 | 0.0297 | -6 | c.162 others(25): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122744896 | TGTGCGC | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01106.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0246 a0001c0001t0001g0287 a0001c0001t0005g0260 others(26): Show |
29 | 288 | 0.1007 | -6 | c.162 others(25): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122771748 | AACACAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00642.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0071 a0001c0001t0001g0242 a0001c0001t0001g0246 others(43): Show |
47 | 105 | 0.4476 | -6 | c.162 others(23): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122812237 | CATTTCA | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00733.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0009a0001c0001t0014a0001c0001t0016others(13): Show | a0001c0001t0009g0134 a0001c0001t0009g0167 a0001c0001t0009g0215 others(21): Show |
24 | 288 | 0.0833 | -6 | c.*23 others(17): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 14/14 | 2358 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
UBC_chr12_124906646_124919650 | 124907703 | CTATATA | C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01891.hp1 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0012 a0001c0001t0003g0002 a0001c0001t0004g0005 |
17 | 322 | 0.0528 | -6 | c.*40 others(17): Show |
UBC | ENSG00000150991.16 | transcript | ENST00000339647.6 | protein_coding | 3942 | chr12 | TogoVar |