| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RNPEPL1_chr2_240563484_240586372 | 240565162 | GAATCACA others(1261): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00621.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0042 others(4): Show |
10 | 400 | 0.0250 | -1268 | c.-34 others(11): Show |
RNPEPL1 | ENSG00000142327.13 | transcript | ENST00000270357.10 | protein_coding | 3321 | chr2 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 1111890 | TGTACTAA others(1261): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02922.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0033a0003c0008others(2): Show | a0001c0001t0001a0002c0033t0001a0003c0008t0001others(2): Show | a0001c0001t0001g0101 a0002c0033t0001g0126 a0003c0008t0001g0102 others(2): Show |
5 | 188 | 0.0266 | -1268 | c.325 others(19): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 714971 | GCTGTGAG others(1260): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(21): Show |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0005a0001c0003t0010a0001c0003t0029others(3): Show | a0001c0003t0005g0123 a0001c0003t0005g0124 a0001c0003t0005g0125 others(21): Show |
24 | 300 | 0.0800 | -1267 | c.-19 others(20): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RILPL1_chr12_123465054_123538719 | 123537452 | ATGCCTCT others(1260): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0185 | 1 | 208 | 0.0048 | -1267 | c.-52 others(11): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3734 | chr12 | TogoVar | |||||||
| CLIC2_chrX_155271211_155339614 | 155324720 | TAAAACAA others(1259): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 256 | 0.0039 | -1266 | c.57+ others(15): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 1/5 | chrX | TogoVar | |||||||
| DDX51_chr12_132131594_132149319 | 132135062 | ACTCCTCC others(1259): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 195 | 0.0051 | -1266 | c.*29 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1531 | chr12 | TogoVar | |||||||
| MTA3_chr2_42563632_42761946 | 42625205 | TATTTTTA others(1259): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG03453.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0238 a0001c0001t0007g0239 a0001c0001t0007g0240 |
3 | 310 | 0.0097 | -1266 | c.318 others(19): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SBF2_chr11_9773668_10299219 | 10238500 | ACTTCATA others(1259): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01071.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0002g0162 a0001c0003t0001g0161 a0001c0003t0001g0166 others(10): Show |
13 | 222 | 0.0586 | -1266 | c.56- others(17): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
| SVBP_chr1_42802052_42822397 | 42804588 | CAACCTTC others(1259): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 392 | 0.0051 | -1266 | c.*15 others(11): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 2463 | chr1 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1699237 | CCAATACA others(1258): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02735.hp1 NA18945.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0003a0001c0001t0058a0001c0001t0059others(2): Show | a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0058g0099 others(4): Show |
7 | 106 | 0.0660 | -1265 | c.100 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1070292 | GGCATCAC others(1258): Show |
G | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0043 | 1 | 117 | 0.0085 | -1265 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79920581 | GGAACCGA others(1258): Show |
G | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 | 1 | 335 | 0.0030 | -1265 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| BANP_chr16_87946434_88082316 | 88000024 | CCATGCAC others(1257): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0029 | a0002c0029t0001 | a0002c0029t0001g0174 | 1 | 350 | 0.0029 | -1264 | c.363 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CUL2_chr10_35003551_35095341 | 35042122 | TCATTACC others(1257): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG02572.hp1 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0286 a0001c0004t0007g0287 |
2 | 298 | 0.0067 | -1264 | c.714 others(17): Show |
CUL2 | ENSG00000108094.17 | transcript | ENST00000374749.8 | protein_coding | 8/20 | chr10 | TogoVar | |||||||
| DDX51_chr12_132131594_132149319 | 132134770 | ACGGTGCC others(1257): Show |
A | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0008 | a0008c0010 | a0008c0010t0010 | a0008c0010t0010g0014 | 1 | 328 | 0.0030 | -1264 | c.*32 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1823 | chr12 | TogoVar | |||||||
| PLA2G5_chr1_20065194_20096911 | 20080588 | AACCAAAA others(1257): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0134 a0001c0001t0013g0041 a0001c0001t0013g0133 |
4 | 428 | 0.0093 | -1264 | c.-10 others(17): Show |
PLA2G5 | ENSG00000127472.11 | transcript | ENST00000375108.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SPATA6L_chr9_4593316_4671480 | 4628117 | GCTGAGGG others(1257): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00597.hp2 | a0007 | a0007c0011 | a0007c0011t0017 | a0007c0011t0017g0350 | 1 | 406 | 0.0025 | -1264 | c.352 others(15): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 5/12 | chr9 | TogoVar | |||||||
| UNKL_chr16_1358205_1419704 | 1372833 | GCACAGGG others(1256): Show |
G | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 | 1 | 318 | 0.0031 | -1263 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | |||||||
| UNKL_chr16_1358205_1419704 | 1372851 | TACACTGC others(1256): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(48): Show |
a0001a0002a0004 | a0001c0001a0001c0011a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0217 a0001c0001t0002g0008 a0001c0001t0002g0023 others(47): Show |
51 | 92 | 0.5543 | -1263 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | |||||||
| UNKL_chr16_1358205_1419704 | 1372880 | AGCACACC others(1256): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0111 | 1 | 311 | 0.0032 | -1263 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | |||||||
| WWP2_chr16_69757332_69946739 | 69836022 | CGAACTCC others(1256): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 312 | 0.0032 | -1263 | c.341 others(17): Show |
WWP2 | ENSG00000198373.13 | transcript | ENST00000359154.7 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ZNF385D_chr3_21407218_21756210 | 21715016 | TTAATTAT others(1256): Show |
T | intron_variant | MODIFIER | HG00438.hp2 NA18961.hp1 NA18994.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0022a0001c0010t0003 | a0001c0001t0004g0152 a0001c0001t0022g0149 a0001c0010t0003g0151 |
3 | 254 | 0.0118 | -1263 | c.22+ others(17): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
| FAIM2_chr12_49861896_49908900 | 49878063 | TGTATGTG others(1255): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(149): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0076 others(131): Show |
152 | 434 | 0.3502 | -1262 | c.801 others(17): Show |
FAIM2 | ENSG00000135472.9 | transcript | ENST00000320634.8 | protein_coding | 11/11 | chr12 | TogoVar | |||||||
| GRHL2_chr8_101487439_101674726 | 101673464 | TATAATGG others(1255): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 304 | 0.0033 | -1262 | c.*67 others(11): Show |
GRHL2 | ENSG00000083307.12 | transcript | ENST00000646743.1 | protein_coding | 3739 | chr8 | TogoVar | |||||||
| OR6J1_chr14_22625929_22649352 | 22640220 | GGGAGGGA others(1255): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 |
a0009 | a0009c0010 | a0009c0010t0023 | a0009c0010t0023g0027 | 2 | 350 | 0.0057 | -1262 | c.-28 others(17): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| SLC7A1_chr13_29504414_29600688 | 29558149 | GGGGGAGT others(1255): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0047 | a0001c0004t0047g0130 | 1 | 262 | 0.0038 | -1262 | c.-11 others(19): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
| CCDC77_chr12_396644_447642 | 420094 | CTGTGTGT others(1254): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0323 | 1 | 407 | 0.0025 | -1261 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PI4K2A_chr10_97635671_97681434 | 97659156 | ACCCGAGT others(1254): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 348 | 0.0029 | -1261 | c.922 others(17): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PPT1_chr1_40067712_40102252 | 40086707 | ACATTTGG others(1254): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01496.hp1 HG02027.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0124 a0001c0001t0005g0043 a0001c0001t0005g0044 others(6): Show |
12 | 394 | 0.0305 | -1261 | c.536 others(17): Show |
PPT1 | ENSG00000131238.18 | transcript | ENST00000642050.2 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
| ASMTL_chrX_1398139_1457909 | 1408271 | CCTCCAGC others(1253): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02683.hp2 NA18961.hp1 |
a0002a0004 | a0002c0004a0004c0007a0004c0009 | a0002c0004t0001a0004c0007t0001a0004c0009t0001 | a0002c0004t0001g0013 a0004c0007t0001g0142 a0004c0009t0001g0126 |
3 | 174 | 0.0172 | -1260 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
| ASMTL_chrX_1398139_1457909 | 1408439 | GCAGGAGG others(1253): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0105 | 1 | 168 | 0.0060 | -1260 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
| MELTF_chr3_196996740_197034817 | 197032498 | GCTCTTGC others(1253): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 40 | 0.0250 | -1260 | c.-40 others(11): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 2682 | chr3 | TogoVar | |||||||
| MUC4_chr3_195741771_195816929 | 195775575 | CCATACCT others(1253): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 |
a0072a0087 | a0072c0122a0087c0123 | a0072c0122t0007a0087c0123t0014 | a0072c0122t0007g0186 a0087c0123t0014g0184 |
2 | 246 | 0.0081 | -1260 | c.129 others(21): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
| PCDH11X_chrX_91774375_92628230 | 92112536 | TTCACTTT others(1253): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0012a0001c0001t0024others(1): Show | a0001c0001t0006g0021 a0001c0001t0006g0053 a0001c0001t0012g0052 others(2): Show |
5 | 154 | 0.0325 | -1260 | c.303 others(21): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| AP3B2_chr15_82654281_82714875 | 82656106 | CCTGGGCC others(1252): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 366 | 0.0027 | -1259 | c.*21 others(11): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 3174 | chr15 | TogoVar | |||||||
| ATP2C2_chr16_84363538_84469187 | 84467928 | CACAATTT others(1252): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp1 others(93): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0005others(32): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(34): Show | a0001c0002t0001g0114 a0001c0003t0001g0003 a0001c0003t0001g0031 others(93): Show |
96 | 430 | 0.2233 | -1259 | c.*41 others(11): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 3742 | chr16 | TogoVar | |||||||
| BARD1_chr2_214720646_214814683 | 214785026 | AAAAAAAA others(1252): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0006 | a0005c0006t0009 | a0005c0006t0009g0123 | 1 | 360 | 0.0028 | -1259 | c.365 others(17): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
| CHST11_chr12_104451948_104767014 | 104452864 | TGGCGCGG others(1252): Show |
T | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0097 | 1 | 156 | 0.0064 | -1259 | c.-45 others(11): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 4083 | chr12 | TogoVar | |||||||
| DPP6_chr7_154047398_154899285 | 154456726 | TAAGAAGG others(1252): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG00673.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(27): Show | a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 others(27): Show |
30 | 38 | 0.7895 | -1259 | c.358 others(19): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| MKRN1_chr7_140448033_140484505 | 140469251 | GGGAGGCG others(1252): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0080 | 1 | 432 | 0.0023 | -1259 | c.314 others(17): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
| MYT1_chr20_64159452_64247253 | 64175074 | TCTCCTGC others(1252): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0017 | 1 | 196 | 0.0051 | -1259 | c.-99 others(19): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SFI1_chr22_31491536_31623588 | 31591768 | CGGGGGGG others(1252): Show |
C | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02258.hp2 others(1): Show |
a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0004 a0010c0010t0001g0005 a0010c0010t0001g0006 others(1): Show |
4 | 320 | 0.0125 | -1259 | c.154 others(19): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| SIRT4_chr12_120297321_120318249 | 120313558 | AGGCTGGT others(1252): Show |
A | downstream_gene_variant | MODIFIER | NA18974.hp2 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0045 | 1 | 378 | 0.0026 | -1259 | c.*52 others(10): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 310 | chr12 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76392974 | GGGGAAGG others(1252): Show |
G | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0296 | 1 | 337 | 0.0030 | -1259 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| CCSAP_chr1_229316015_229348047 | 229331141 | TTCTCAGG others(1251): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 434 | 0.0023 | -1258 | c.368 others(17): Show |
CCSAP | ENSG00000154429.11 | transcript | ENST00000284617.7 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
| TMEM44_chr3_194582678_194638419 | 194634644 | ACTGTCTC others(1251): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02723.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0001a0001c0001t0002a0002c0003t0029others(3): Show | a0001c0001t0001g0187 a0001c0001t0002g0186 a0002c0003t0029g0065 others(6): Show |
9 | 402 | 0.0224 | -1258 | c.-26 others(11): Show |
TMEM44 | ENSG00000145014.18 | transcript | ENST00000347147.9 | protein_coding | 1226 | chr3 | TogoVar | |||||||
| YBEY_chr21_46281342_46302751 | 46292992 | ACAGCCAC others(1251): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152 | 1 | 250 | 0.0040 | -1258 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686190 | GAGAACAG others(1250): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 270 | 0.0037 | -1257 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| ZNF99_chr19_22747183_22789151 | 22756441 | CTCTTCAC others(1250): Show |
C | stop_lost others(1): Show |
HIGH | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216 | 1 | 342 | 0.0029 | -1257 | c.221 others(9): Show |
p.Glu others(19): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 4/4 | 3602/7861 | 2211/2595 | 737/864 | chr19 | TogoVar | |||
| ADGRA1_chr10_133082924_133136675 | 133135419 | TCTGGTCT others(1249): Show |
T | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0021 | a0001c0001t0018g0334 a0001c0001t0021g0035 |
2 | 366 | 0.0055 | -1256 | c.*59 others(11): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 3745 | chr10 | TogoVar |