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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR6J1_chr14_22625929_22649352 | 22637752 | CTGGCCAG others(114): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0183 | 1 | 362 | 0.0028 | -121 | c.-27 others(17): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1514422 | CTTCCTTT others(114): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00733.hp1 others(14): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0055 others(14): Show |
17 | 114 | 0.1491 | -121 | c.-25 others(19): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143978849 | GGAACATC others(114): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0212 | 1 | 380 | 0.0026 | -121 | c.255 others(17): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41402289 | ATATATAT others(114): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG03486.hp2 HG03540.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0036 | a0001c0001t0001a0002c0002t0001a0004c0036t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(2): Show |
5 | 206 | 0.0243 | -121 | c.844 others(21): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085000 | CCCAGCAC others(114): Show |
C | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0090 | 1 | 402 | 0.0025 | -121 | c.186 others(17): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401431 | CCCGCTCA others(114): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0201 | 1 | 216 | 0.0046 | -121 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIBP1_chr12_27519206_27700564 | 27558475 | CACACACA others(114): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0040 a0001c0001t0001g0088 a0001c0001t0001g0096 others(17): Show |
20 | 314 | 0.0637 | -121 | c.-12 others(21): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50345419 | CCCCCCAG others(114): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp1 others(36): Show |
a0001a0002a0013others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0026a0001c0002t0003others(13): Show | a0001c0001t0001g0295 a0001c0001t0026g0289 a0001c0002t0003g0285 others(36): Show |
39 | 340 | 0.1147 | -121 | c.-14 others(19): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3146915 | GGGGGGTG others(114): Show |
G | intron_variant | MODIFIER | NA19067.hp1 NA19067.hp2 NA19085.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0001 | a0001c0001t0033g0197 a0001c0002t0001g0114 a0001c0002t0001g0210 |
3 | 210 | 0.0143 | -121 | c.38- others(17): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIPK1_chr6_3063494_3120187 | 3093995 | TGCCGCAC others(114): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0200 | 1 | 340 | 0.0029 | -121 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665385 | TTCCTTTC others(114): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0039 | a0001c0039t0061 | a0001c0039t0061g0177 | 1 | 196 | 0.0051 | -121 | c.348 others(19): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43280776 | CCTGTCAT others(114): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(3): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0002c0005others(1): Show | a0001c0003t0003a0002c0002t0002a0002c0005t0001others(1): Show | a0001c0003t0003g0141 a0002c0002t0002g0113 a0002c0005t0001g0139 others(3): Show |
6 | 280 | 0.0214 | -121 | c.484 others(19): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401414 | GCCCCGCT others(114): Show |
G | downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 242 | 0.0041 | -121 | c.*43 others(11): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4301 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401431 | CCCGCTCA others(114): Show |
C | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0230 | 1 | 242 | 0.0041 | -121 | c.*43 others(11): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4284 | chr11 | TogoVar | |||||||
SLC2A5_chr1_9030106_9074635 | 9041392 | GTCCCAGG others(114): Show |
G | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188 | 1 | 336 | 0.0030 | -121 | c.571 others(15): Show |
SLC2A5 | ENSG00000142583.18 | transcript | ENST00000377424.9 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SLC35G4_chr18_11604596_11615612 | 11613769 | GCCACCCT others(114): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(79): Show |
a0003a0005a0007others(1): Show | a0003c0003a0005c0020a0007c0008others(1): Show | a0003c0003t0001a0005c0020t0001a0007c0008t0001others(1): Show | a0003c0003t0001g0000 a0005c0020t0001g0000 a0007c0008t0001g0000 others(1): Show |
82 | 444 | 0.1847 | -121 | c.*31 others(11): Show |
SLC35G4 | ENSG00000236396.8 | transcript | ENST00000588001.2 | protein_coding | 3158 | chr18 | TogoVar | |||||||
SLC39A14_chr8_22362278_22427736 | 22396422 | GAGAGAGA others(114): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0156 | 1 | 324 | 0.0031 | -121 | c.-15 others(17): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC39A14_chr8_22362278_22427736 | 22396423 | AGAGAGAG others(114): Show |
A | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0153 | 1 | 324 | 0.0031 | -121 | c.-15 others(17): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC7A1_chr13_29504414_29600688 | 29559351 | AGGGGGAG others(114): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00673.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(15): Show | a0001c0001t0001g0012 a0001c0001t0001g0065 a0001c0001t0001g0068 others(58): Show |
64 | 330 | 0.1939 | -121 | c.-11 others(19): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SLC7A1_chr13_29504414_29600688 | 29559392 | GGGGGAGA others(114): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02015.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0004 | a0001c0001t0008g0044 a0001c0002t0004g0287 |
2 | 330 | 0.0061 | -121 | c.-11 others(19): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 505281 | ACGGGGTG others(114): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02896.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0035 | a0001c0001t0001a0001c0007t0001a0001c0035t0004 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0007t0001g0158 others(1): Show |
4 | 218 | 0.0184 | -121 | c.212 others(19): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44978582 | GCGGGTGT others(114): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp1 HG03453.hp1 HG03834.hp1 others(2): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0002 a0002c0002t0001g0215 a0002c0002t0001g0232 others(2): Show |
5 | 334 | 0.0150 | -121 | c.*17 others(11): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1610 | chr21 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44978618 | CGTGTGGA others(114): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0230 a0003c0003t0001g0142 |
2 | 334 | 0.0060 | -121 | c.*18 others(11): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1646 | chr21 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7676835 | CTCCACCC others(114): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(46): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(41): Show | a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0005g0067 others(46): Show |
49 | 168 | 0.2917 | -121 | c.134 others(17): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 9/26 | chr4 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2332999 | GGGCGGCT others(114): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(29): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0002a0001c0015t0028 | a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0045 others(24): Show |
32 | 414 | 0.0773 | -121 | c.67- others(15): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48564481 | TTCTTCTT others(114): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG02071.hp2 others(7): Show |
a0002a0011 | a0002c0002a0002c0005a0011c0026 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0006 a0002c0002t0001g0202 a0002c0002t0002g0070 others(7): Show |
10 | 376 | 0.0266 | -121 | c.-47 others(19): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
STRA8_chr7_135228838_135263663 | 135262483 | AAAAAAAA others(114): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0131 | 1 | 416 | 0.0024 | -121 | c.*39 others(11): Show |
STRA8 | ENSG00000146857.5 | transcript | ENST00000662584.2 | protein_coding | 3821 | chr7 | TogoVar | |||||||
TAF13_chr1_109059140_109081003 | 109071958 | ATATATAT others(114): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 2 | 414 | 0.0048 | -121 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
TARS3_chr15_101648596_101729473 | 101692316 | TTCTCTCC others(114): Show |
T | intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0188 | 1 | 278 | 0.0036 | -121 | c.132 others(19): Show |
TARS3 | ENSG00000185418.16 | transcript | ENST00000335968.8 | protein_coding | 10/18 | chr15 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1272940 | CTGTGACC others(114): Show |
C | intron_variant | MODIFIER | HG01891.hp2 NA18995.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0038 | a0001c0001t0001a0001c0038t0001 | a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0038t0001g0384 |
3 | 392 | 0.0077 | -121 | c.228 others(17): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1284952 | AGACCTGC others(114): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(111): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(111): Show |
114 | 392 | 0.2908 | -121 | c.157 others(19): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TESC_chr12_117033923_117104416 | 117075864 | TATATATG others(114): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 a0001c0001t0001g0283 |
2 | 312 | 0.0064 | -121 | c.59- others(13): Show |
TESC | ENSG00000088992.18 | transcript | ENST00000335209.12 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
TFDP2_chr3_141939428_142154544 | 141969087 | ATAACATA others(114): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0027 | a0001c0001t0018g0032 a0001c0001t0027g0034 |
2 | 252 | 0.0079 | -121 | c.732 others(15): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 9/12 | chr3 | TogoVar | |||||||
TFDP2_chr3_141939428_142154544 | 141969130 | CATATATA others(114): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0073a0001c0001t0100others(1): Show | a0001c0001t0038g0013 a0001c0001t0073g0237 a0001c0001t0100g0040 others(1): Show |
4 | 252 | 0.0159 | -121 | c.732 others(15): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 9/12 | chr3 | TogoVar | |||||||
THBS3_chr1_155190588_155212897 | 155191277 | GCTTGGGG others(114): Show |
G | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01123.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0018 others(10): Show |
33 | 298 | 0.1107 | -121 | c.*44 others(11): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4310 | chr1 | TogoVar | |||||||
THBS3_chr1_155190588_155212897 | 155191345 | CGCGGTGG others(114): Show |
C | downstream_gene_variant | MODIFIER | NA18979.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0025 |
2 | 298 | 0.0067 | -121 | c.*43 others(11): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4242 | chr1 | TogoVar | |||||||
TMEM163_chr2_134450759_134724000 | 134607865 | GACAGACC others(114): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 222 | 0.0045 | -121 | c.323 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
TMEM163_chr2_134450759_134724000 | 134608206 | GACAGACC others(114): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 222 | 0.0045 | -121 | c.323 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
TNNI3K_chr1_74230387_74549428 | 74289484 | GTGTCATT others(114): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(187): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(187): Show |
190 | 194 | 0.9794 | -121 | c.444 others(19): Show |
TNNI3K | ENSG00000116783.15 | transcript | ENST00000326637.8 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1522245 | TGCCCGCC others(114): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(37): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0015others(12): Show | a0001c0001t0003a0001c0001t0005a0002c0002t0003others(18): Show | a0001c0001t0003g0077 a0001c0001t0003g0128 a0001c0001t0005g0073 others(36): Show |
40 | 130 | 0.3077 | -121 | c.261 others(19): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1533093 | AATCTCTC others(114): Show |
A | intron_variant | MODIFIER | NA19058.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0066 | 1 | 130 | 0.0077 | -121 | c.261 others(19): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRERF1_chr6_42219931_42456926 | 42262434 | CAGAGAGA others(114): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0004 | a0004c0013 | a0004c0013t0023 | a0004c0013t0023g0161 | 1 | 180 | 0.0056 | -121 | c.188 others(17): Show |
TRERF1 | ENSG00000124496.13 | transcript | ENST00000695948.1 | protein_coding | 8/17 | chr6 | TogoVar | |||||||
TSPEAR_chr21_44492893_44716572 | 44503491 | TCTGGGAG others(114): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 294 | 0.0034 | -121 | c.185 others(19): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/11 | chr21 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 666920 | GAGATGGT others(114): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | 482 | 0.0042 | -121 | c.455 others(17): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
UGT2B28_chr4_69275475_69300050 | 69295841 | CTATTCCT others(114): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(39): Show |
a0003a0011 | a0003c0003a0003c0004a0011c0013 | a0003c0003t0001a0003c0004t0001a0011c0013t0001 | a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0022 others(7): Show |
42 | 259 | 0.1622 | -121 | c.*10 others(11): Show |
UGT2B28 | ENSG00000135226.18 | transcript | ENST00000335568.10 | protein_coding | 792 | chr4 | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119180618 | TTTGTTCT others(114): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 422 | 0.0024 | -121 | c.-28 others(17): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
USP7_chr16_8887097_8968906 | 8943285 | GGTTTAAT others(114): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0052 | 1 | 338 | 0.0030 | -121 | c.80- others(17): Show |
USP7 | ENSG00000187555.17 | transcript | ENST00000344836.9 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467074 | GAGGGAGG others(114): Show |
G | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0060 | a0060c0099 | a0060c0099t0040 | a0060c0099t0040g0003 | 1 | 271 | 0.0037 | -121 | c.*69 others(9): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 565 | chrX | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11605045 | CCCCCGCC others(114): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02486.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0153 a0001c0001t0001g0191 a0001c0001t0001g0192 others(3): Show |
6 | 388 | 0.0155 | -121 | c.83- others(15): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11605110 | CCCCCCAC others(114): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 388 | 0.0026 | -121 | c.83- others(15): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar |