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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBA6_chr4_67607652_67706155 | 67699550 | A | ATAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(76): Show |
a0001 | a0001c0002a0001c0007a0001c0008 | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(17): Show | a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0024 others(70): Show |
79 | 322 | 0.2453 | 3 | c.71+ others(18): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 1/32 | chr4 | TogoVar | |||||||
UBAC1_chr9_135927969_135966373 | 135937440 | C | CAAA | intron_variant | MODIFIER | HG01255.hp2 HG01361.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0008a0001c0009 | a0001c0008t0004a0001c0009t0005 | a0001c0008t0004g0076 a0001c0008t0004g0077 a0001c0009t0005g0025 others(2): Show |
6 | 49 | 0.1224 | 3 | c.110 others(20): Show |
UBAC1 | ENSG00000130560.9 | transcript | ENST00000371756.4 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
UBAC2_chr13_99195854_99391504 | 99247873 | C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00642.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0002g0098 others(32): Show |
35 | 237 | 0.1477 | 3 | c.389 others(20): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99268611 | C | CAAA | intron_variant | MODIFIER | HG01123.hp1 HG02738.hp1 HG02895.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0217 a0001c0001t0002g0001 a0001c0001t0002g0133 others(16): Show |
20 | 210 | 0.0952 | 3 | c.389 others(22): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99292718 | G | GTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(71): Show |
74 | 88 | 0.8409 | 3 | c.390 others(22): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99325066 | A | AATG | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(36): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0004 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0276 others(36): Show |
39 | 378 | 0.1032 | 3 | c.561 others(20): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99338043 | T | TTTC | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00733.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0033 others(5): Show |
8 | 378 | 0.0212 | 3 | c.562 others(20): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99343377 | C | CCCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(176): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(176): Show |
179 | 378 | 0.4735 | 3 | c.807 others(20): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99347317 | G | GCGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(71): Show |
74 | 378 | 0.1958 | 3 | c.807 others(20): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99347319 | G | GCCC | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG00738.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0057 a0001c0001t0001g0091 a0001c0001t0003g0090 others(21): Show |
24 | 102 | 0.2353 | 3 | c.807 others(20): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99347330 | C | CCCT | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG02015.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0004 | a0001c0001t0001g0175 a0001c0001t0001g0278 a0001c0001t0001g0285 others(16): Show |
19 | 358 | 0.0531 | 3 | c.807 others(20): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99375970 | A | ATTT | intron_variant | MODIFIER | NA18963.hp1 NA18967.hp1 NA18970.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0248 others(7): Show |
10 | 149 | 0.0671 | 3 | c.927 others(20): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBALD1_chr16_4603884_4619888 | 4617220 | C | CAAA | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG02027.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(8): Show |
29 | 267 | 0.1086 | 3 | c.-24 others(14): Show |
UBALD1 | ENSG00000153443.13 | transcript | ENST00000283474.12 | protein_coding | 2333 | chr16 | TogoVar | |||||||
UBALD2_chr17_76260348_76276298 | 76264069 | A | AACC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(36): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0004 a0001c0001t0003g0004 a0001c0001t0003g0012 others(9): Show |
39 | 408 | 0.0956 | 3 | c.-14 others(14): Show |
UBALD2 | ENSG00000185262.9 | transcript | ENST00000327490.8 | protein_coding | 1278 | chr17 | TogoVar | |||||||
UBALD2_chr17_76260348_76276298 | 76267490 | C | CTTT | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG02559.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004a0001c0003t0006 | a0001c0001t0004g0006 a0001c0003t0004g0006 a0001c0003t0004g0075 others(3): Show |
16 | 194 | 0.0825 | 3 | c.183 others(20): Show |
UBALD2 | ENSG00000185262.9 | transcript | ENST00000327490.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182671 | C | CTCT | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0004g0295 others(7): Show |
10 | 300 | 0.0333 | 3 | c.-8+ others(18): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34195927 | G | GTTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00621.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 others(32): Show |
35 | 71 | 0.4930 | 3 | c.-8+ others(20): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34210734 | A | AATT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0154 a0001c0001t0001g0340 a0001c0001t0002g0163 others(49): Show |
52 | 103 | 0.5049 | 3 | c.-7- others(20): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34210734 | A | ATTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01074.hp2 others(37): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0124 others(37): Show |
40 | 91 | 0.4396 | 3 | c.-7- others(20): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34213928 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG01361.hp1 HG01433.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0001g0078 others(21): Show |
24 | 296 | 0.0811 | 3 | c.-7- others(18): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34217783 | C | CTTT | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01433.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(35): Show |
38 | 81 | 0.4691 | 3 | c.-7- others(18): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34220063 | T | TCCC | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 others(2): Show |
5 | 337 | 0.0148 | 3 | c.-7- others(16): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34220085 | C | CCCT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00621.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0163 a0001c0001t0002g0214 a0001c0001t0002g0216 others(43): Show |
46 | 340 | 0.1353 | 3 | c.-7- others(16): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34233225 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(55): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 others(55): Show |
58 | 118 | 0.4915 | 3 | c.35- others(16): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP2L_chr1_154215955_154275847 | 154270770 | G | GTTT | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00733.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 others(7): Show |
10 | 238 | 0.0420 | 3 | c.*48 others(12): Show |
UBAP2L | ENSG00000143569.20 | transcript | ENST00000428931.6 | protein_coding | 27/27 | 492 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
UBAP2_chr9_33916693_34053887 | 33936926 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(22): Show |
a0001a0005a0008others(1): Show | a0001c0002a0005c0006a0008c0009others(1): Show | a0001c0002t0001a0005c0006t0001a0008c0009t0001others(1): Show | a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 others(22): Show |
25 | 37 | 0.6757 | 3 | c.193 others(22): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33937599 | C | CAAA | intron_variant | MODIFIER | HG00733.hp1 HG01175.hp1 HG01358.hp1 others(21): Show |
a0002a0016 | a0002c0001a0016c0026 | a0002c0001t0002a0002c0001t0007a0016c0026t0002 | a0002c0001t0002g0046 a0002c0001t0002g0047 a0002c0001t0002g0048 others(21): Show |
24 | 125 | 0.1920 | 3 | c.193 others(22): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33939189 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01074.hp1 others(48): Show |
a0002a0007a0009 | a0002c0001a0007c0010a0009c0014 | a0002c0001t0002a0002c0001t0003a0002c0001t0008others(2): Show | a0002c0001t0002g0047 a0002c0001t0002g0048 a0002c0001t0002g0049 others(48): Show |
51 | 87 | 0.5862 | 3 | c.192 others(22): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33942727 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(9): Show |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0228 a0002c0001t0004g0229 a0002c0001t0004g0231 others(9): Show |
12 | 348 | 0.0345 | 3 | c.171 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 15/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33958706 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp2 others(138): Show |
a0002a0007a0009others(1): Show | a0002c0001a0002c0013a0002c0024others(4): Show | a0002c0001t0002a0002c0001t0003a0002c0001t0004others(8): Show | a0002c0001t0002g0045 a0002c0001t0002g0046 a0002c0001t0002g0047 others(138): Show |
141 | 331 | 0.4260 | 3 | c.798 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 10/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33980220 | C | CTTT | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01106.hp2 others(19): Show |
a0001a0002a0008others(1): Show | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0002others(2): Show | a0001c0002t0001g0143 a0001c0002t0001g0148 a0001c0002t0001g0149 others(19): Show |
22 | 37 | 0.5946 | 3 | c.520 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981098 | T | TATA | intron_variant | MODIFIER | HG02300.hp2 NA18946.hp1 NA18950.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0002 | a0001c0003t0001g0287 a0001c0003t0001g0312 a0001c0003t0001g0329 others(2): Show |
5 | 284 | 0.0176 | 3 | c.520 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981112 | A | ATTC | intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG01516.hp2 others(4): Show |
a0002a0009 | a0002c0001a0009c0014 | a0002c0001t0002a0009c0014t0003 | a0002c0001t0002g0086 a0002c0001t0002g0089 a0002c0001t0002g0090 others(4): Show |
7 | 340 | 0.0206 | 3 | c.520 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981116 | A | ATTC | intron_variant | MODIFIER | HG02486.hp1 HG03041.hp1 HG03195.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0051 a0002c0001t0002g0052 a0002c0001t0002g0053 others(1): Show |
4 | 344 | 0.0116 | 3 | c.520 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981118 | A | ATTC | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00738.hp1 others(29): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0003others(1): Show | a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0148 others(29): Show |
32 | 301 | 0.1063 | 3 | c.520 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33992389 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp2 HG01952.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0004others(5): Show | a0001c0002t0001g0168 a0001c0002t0001g0203 a0001c0002t0001g0207 others(10): Show |
13 | 116 | 0.1121 | 3 | c.289 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 4/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33993896 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(96): Show |
a0001a0003a0005others(5): Show | a0001c0002a0001c0003a0001c0007others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(9): Show | a0001c0002t0001g0044 a0001c0002t0001g0129 a0001c0002t0001g0130 others(96): Show |
99 | 201 | 0.4925 | 3 | c.288 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 4/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33999907 | T | TATG | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01074.hp2 others(38): Show |
a0001a0004a0006others(3): Show | a0001c0002a0001c0003a0004c0005others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0005others(5): Show | a0001c0002t0001g0264 a0001c0003t0001g0267 a0001c0003t0001g0268 others(38): Show |
41 | 344 | 0.1192 | 3 | c.100 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34011995 | C | CATT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0003a0001c0007others(18): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(27): Show | a0001c0002t0001g0044 a0001c0002t0001g0129 a0001c0002t0001g0130 others(240): Show |
243 | 354 | 0.6864 | 3 | c.99+ others(18): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34014324 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(114): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0003a0001c0007others(13): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(16): Show | a0001c0002t0001g0044 a0001c0002t0001g0130 a0001c0002t0001g0131 others(114): Show |
117 | 210 | 0.5571 | 3 | c.99+ others(18): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34016287 | G | GGAA | intron_variant | MODIFIER | NA19060.hp2 NA19077.hp1 NA19091.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0083 a0002c0001t0002g0088 a0002c0001t0002g0110 |
3 | 339 | 0.0088 | 3 | c.99+ others(16): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34016306 | G | GAGA | intron_variant | MODIFIER | HG01175.hp1 HG02486.hp1 HG02572.hp2 others(17): Show |
a0002a0007 | a0002c0001a0007c0010 | a0002c0001t0002a0002c0001t0007a0007c0010t0002 | a0002c0001t0002g0047 a0002c0001t0002g0051 a0002c0001t0002g0052 others(17): Show |
20 | 354 | 0.0565 | 3 | c.99+ others(16): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34016370 | C | CGGT | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG02135.hp2 others(18): Show |
a0002a0007 | a0002c0001a0007c0010 | a0002c0001t0002a0002c0001t0003a0007c0010t0003 | a0002c0001t0002g0121 a0002c0001t0003g0005 a0002c0001t0003g0007 others(18): Show |
21 | 247 | 0.0850 | 3 | c.99+ others(16): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34039847 | T | TAAA | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00735.hp1 others(21): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0003c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0002t0001g0156 a0001c0002t0001g0189 a0001c0002t0001g0190 others(21): Show |
24 | 51 | 0.4706 | 3 | c.-42 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34041464 | C | CAAA | intron_variant | MODIFIER | HG01109.hp1 HG02615.hp1 HG03098.hp2 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0252 a0002c0001t0003g0253 a0002c0001t0003g0254 others(3): Show |
6 | 253 | 0.0237 | 3 | c.-42 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34045432 | C | CATT | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01175.hp2 others(2): Show |
a0002a0016 | a0002c0001a0016c0026 | a0002c0001t0002a0016c0026t0002 | a0002c0001t0002g0048 a0002c0001t0002g0049 a0002c0001t0002g0068 others(2): Show |
5 | 354 | 0.0141 | 3 | c.-42 others(20): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34053185 | C | CTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01167.hp2 others(11): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004 | a0002c0001t0002g0111 a0002c0001t0004g0228 a0002c0001t0004g0229 others(11): Show |
14 | 76 | 0.1842 | 3 | c.-44 others(14): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 4299 | chr9 | TogoVar | |||||||
UBASH3A_chr21_42398902_42452684 | 42399354 | T | TAAA | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01106.hp2 HG01123.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0009others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0004t0001others(3): Show | a0001c0002t0001g0290 a0001c0002t0001g0324 a0001c0002t0004g0049 others(9): Show |
14 | 37 | 0.3784 | 3 | c.-45 others(14): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 4547 | chr21 | TogoVar | |||||||
UBASH3A_chr21_42398902_42452684 | 42399736 | A | ATAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(7): Show |
a0002 | a0002c0005a0002c0010 | a0002c0005t0002a0002c0010t0001a0002c0010t0002 | a0002c0005t0002g0007 a0002c0010t0001g0307 a0002c0010t0001g0308 others(6): Show |
10 | 403 | 0.0248 | 3 | c.-42 others(14): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 4165 | chr21 | TogoVar | |||||||
UBASH3A_chr21_42398902_42452684 | 42405983 | T | TGGC | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01109.hp2 others(47): Show |
a0002a0006 | a0002c0001a0002c0005a0002c0012others(5): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0004others(8): Show | a0002c0001t0001g0004 a0002c0001t0001g0009 a0002c0001t0001g0018 others(34): Show |
50 | 232 | 0.2155 | 3 | c.114 others(18): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |