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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UHRF2_chr9_6408199_6512054 | 6491384 | TCCTAACA others(3): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0278 | 1 | 316 | 0.0032 | -10 | c.149 others(29): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6509316 | TACATCCC others(3): Show |
T | downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 316 | 0.0032 | -10 | c.*31 others(21): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 2263 | chr9 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 176911112 | GAAGAAAA others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00738.hp1 others(35): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0006 | a0001c0001t0001a0003c0004t0001a0003c0004t0002others(2): Show | a0001c0001t0001g0084 a0001c0001t0001g0200 a0001c0001t0001g0205 others(35): Show |
38 | 229 | 0.1659 | -10 | c.167 others(27): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 11/14 | chr5 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 176932858 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0170 | 1 | 243 | 0.0041 | -10 | c.159 others(31): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 10/14 | chr5 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 176986359 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 101 | 0.0099 | -10 | c.-8- others(25): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
ULBP3_chr6_150056053_150074121 | 150060986 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0016 | 1 | 10 | 0.1000 | -10 | c.*23 others(21): Show |
ULBP3 | ENSG00000131019.11 | transcript | ENST00000367339.7 | protein_coding | 66 | chr6 | TogoVar | |||||||
ULBP3_chr6_150056053_150074121 | 150063114 | AAAAAAAA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0065 | 1 | 456 | 0.0022 | -10 | c.*25 others(19): Show |
ULBP3 | ENSG00000131019.11 | transcript | ENST00000367339.7 | protein_coding | 5/5 | 1483 | chr6 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917104 | CGGAGGCT others(3): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 312 | 0.0032 | -10 | c.218 others(25): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917125 | CGGAGGCT others(3): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0032 a0001c0007t0001g0007 |
3 | 293 | 0.0102 | -10 | c.218 others(25): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917146 | CGGAGGCT others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG01192.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0148 others(10): Show |
17 | 318 | 0.0535 | -10 | c.218 others(25): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131923980 | GTTTTTTT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0313 | 1 | 253 | 0.0040 | -10 | c.*26 others(21): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 831 | chr12 | TogoVar | |||||||
ULK2_chr17_19765830_19872936 | 19784513 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA18961.hp2 NA18970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0141 a0001c0001t0001g0164 others(1): Show |
4 | 18 | 0.2222 | -10 | c.225 others(27): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
ULK2_chr17_19765830_19872936 | 19804471 | AAAATATA others(3): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0085 | 1 | 286 | 0.0035 | -10 | c.129 others(27): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 15/26 | chr17 | TogoVar | |||||||
ULK2_chr17_19765830_19872936 | 19851326 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0273 | 1 | 97 | 0.0103 | -10 | c.226 others(27): Show |
ULK2 | ENSG00000083290.20 | transcript | ENST00000395544.9 | protein_coding | 3/26 | chr17 | TogoVar | |||||||
ULK3_chr15_74831118_74848156 | 74838353 | ACAAGGAC others(3): Show |
A | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 438 | 0.0023 | -10 | c.116 others(25): Show |
ULK3 | ENSG00000140474.14 | transcript | ENST00000440863.7 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41300836 | ATTATATA others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 54 | 0.0185 | -10 | c.367 others(31): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41322019 | CTTTTATT others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02970.hp1 |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0013 | a0001c0001t0001a0002c0004t0002a0005c0013t0002 | a0001c0001t0001g0049 a0002c0004t0002g0015 a0005c0013t0002g0016 |
3 | 67 | 0.0448 | -10 | c.367 others(31): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41323391 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG03209.hp1 |
a0010a0019 | a0010c0011a0019c0017 | a0010c0011t0002a0019c0017t0001 | a0010c0011t0002g0010 a0010c0011t0002g0011 a0019c0017t0001g0022 |
3 | 11 | 0.2727 | -10 | c.367 others(31): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41470018 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG01169.hp2 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0058 | 1 | 8 | 0.1250 | -10 | c.322 others(29): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41531464 | GGGAGGGG others(3): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01071.hp1 HG01081.hp1 others(34): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0004a0002c0009others(13): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0002others(15): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 others(34): Show |
37 | 64 | 0.5781 | -10 | c.322 others(31): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41602251 | AAAAGGAA others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01515.hp1 others(8): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0002others(4): Show | a0001c0001t0001a0003c0003t0001a0004c0002t0005others(4): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0003c0003t0001g0059 others(8): Show |
11 | 21 | 0.5238 | -10 | c.312 others(31): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 31/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41678177 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02970.hp2 HG03486.hp2 NA18522.hp1 |
a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0001 a0005c0006t0004g0002 a0005c0006t0004g0003 |
3 | 33 | 0.0909 | -10 | c.297 others(29): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 29/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41762655 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0037 | 1 | 43 | 0.0233 | -10 | c.219 others(29): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 21/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41865270 | TTAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp2 |
a0004 | a0004c0002 | a0004c0002t0002 | a0004c0002t0002g0007 a0004c0002t0002g0009 |
2 | 44 | 0.0455 | -10 | c.165 others(31): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41866770 | TTATTAAA others(3): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01109.hp2 others(32): Show |
a0002a0003a0004others(9): Show | a0002c0004a0002c0009a0003c0003others(12): Show | a0002c0004t0002a0002c0009t0002a0003c0003t0001others(15): Show | a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 others(32): Show |
35 | 70 | 0.5000 | -10 | c.165 others(31): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41881284 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01071.hp1 others(25): Show |
a0001a0006a0013others(2): Show | a0001c0001a0006c0007a0013c0024others(2): Show | a0001c0001t0001a0001c0001t0003a0006c0007t0001others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 others(25): Show |
28 | 41 | 0.6829 | -10 | c.165 others(29): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41901172 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0016 | a0016c0015 | a0016c0015t0001 | a0016c0015t0001g0005 | 1 | 16 | 0.0625 | -10 | c.118 others(27): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 12/36 | chr3 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7638541 | AAAAACAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0053 others(87): Show |
90 | 212 | 0.4245 | -10 | c.-23 others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2210 | chr7 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7704766 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0122 | 1 | 116 | 0.0086 | -10 | c.82+ others(27): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7746955 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00639.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0024others(3): Show | a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0207 others(7): Show |
10 | 136 | 0.0735 | -10 | c.83- others(27): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7778226 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG02071.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0003g0107 a0001c0001t0004g0091 a0001c0001t0005g0048 others(19): Show |
22 | 150 | 0.1467 | -10 | c.83- others(27): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7778267 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0157 | 1 | 227 | 0.0044 | -10 | c.83- others(27): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7778269 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0058 | 1 | 228 | 0.0044 | -10 | c.83- others(27): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7804983 | GAAAACAA others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(134): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0053 others(134): Show |
137 | 172 | 0.7965 | -10 | c.156 others(27): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7827122 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0064 | a0001c0001t0020g0216 a0001c0001t0064g0190 |
2 | 203 | 0.0099 | -10 | c.156 others(29): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847087 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0234 | 1 | 223 | 0.0045 | -10 | c.157 others(29): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847100 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0043 | a0001c0001t0012g0087 a0001c0001t0020g0028 a0001c0001t0043g0143 |
3 | 229 | 0.0131 | -10 | c.157 others(29): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7864602 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG02071.hp2 HG02280.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0002g0066 a0001c0001t0002g0166 a0001c0001t0005g0048 others(11): Show |
14 | 38 | 0.3684 | -10 | c.157 others(29): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42069229 | AACACACA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0010 | a0010c0053 | a0010c0053t0020 | a0010c0053t0020g0005 | 2 | 92 | 0.0217 | -10 | c.-20 others(21): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2087 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42077002 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00673.hp2 others(44): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0119a0001c0133others(33): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(39): Show | a0001c0001t0001g0209 a0001c0001t0004g0002 a0001c0001t0007g0163 others(44): Show |
47 | 78 | 0.6026 | -10 | c.319 others(25): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42122576 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(118): Show |
a0001a0002a0003others(50): Show | a0001c0001a0001c0133a0002c0002others(64): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(71): Show | a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0063 others(111): Show |
121 | 396 | 0.3056 | -10 | c.282 others(27): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMPS_chr3_124725452_124754273 | 124726844 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00673.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0018others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(15): Show |
30 | 84 | 0.3571 | -10 | c.-36 others(21): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 3607 | chr3 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124746755 | TTGTGTGT others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01256.hp1 HG04199.hp2 NA18984.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0055a0002c0002t0089a0003c0003t0032 | a0001c0001t0055g0050 a0002c0002t0089g0003 a0003c0003t0032g0006 others(1): Show |
5 | 12 | 0.4167 | -10 | c.*27 others(21): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 6/6 | 2704 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
UNC13A_chr19_17596336_17693354 | 17607246 | CATTTTTA others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG03704.hp1 HG04115.hp2 |
a0001a0002 | a0001c0001a0001c0067a0002c0006 | a0001c0001t0004a0001c0067t0004a0002c0006t0001 | a0001c0001t0004g0012 a0001c0067t0004g0265 a0002c0006t0001g0281 |
3 | 318 | 0.0094 | -10 | c.481 others(27): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 43/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17666121 | CTTTTCTT others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0004a0001c0063a0001c0066others(1): Show | a0001c0004t0010a0001c0004t0011a0001c0004t0018others(4): Show | a0001c0004t0010g0056 a0001c0004t0010g0242 a0001c0004t0011g0055 others(5): Show |
8 | 221 | 0.0362 | -10 | c.523 others(25): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 7/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17666906 | GAGAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(147): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0007others(37): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(72): Show | a0001c0002t0001g0001 a0001c0002t0001g0106 a0001c0002t0001g0113 others(147): Show |
150 | 318 | 0.4717 | -10 | c.469 others(25): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 6/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17670907 | GTAAAATA others(3): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG02145.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0010others(8): Show | a0001c0001t0001g0179 a0001c0002t0003g0131 a0001c0002t0010g0033 others(10): Show |
13 | 109 | 0.1193 | -10 | c.271 others(27): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 4/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17686298 | GCCCCCCC others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01109.hp2 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(20): Show | a0001c0002t0003a0001c0002t0008a0001c0002t0010others(36): Show | a0001c0002t0003g0068 a0001c0002t0008g0046 a0001c0002t0010g0069 others(42): Show |
45 | 82 | 0.5488 | -10 | c.22+ others(25): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 1/43 | chr19 | TogoVar | |||||||
UNC13B_chr9_35157009_35410335 | 35228703 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(76): Show |
a0002a0003a0004others(10): Show | a0002c0003a0002c0004a0002c0010others(17): Show | a0002c0003t0001a0002c0004t0001a0002c0010t0001others(18): Show | a0002c0003t0001g0024 a0002c0003t0001g0026 a0002c0003t0001g0039 others(76): Show |
79 | 95 | 0.8316 | -10 | c.52+ others(23): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35245064 | ACTTTACT others(3): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0027 | 1 | 222 | 0.0045 | -10 | c.468 others(27): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 6/39 | chr9 | TogoVar |