| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACAP3_chr1_1287391_1312930 | 1288239 | CCGTGTCT others(1790): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0075 | 1 | 295 | 0.0034 | -1797 | c.*35 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4151 | chr1 | TogoVar | ||||||
| ADGRE3_chr19_14614117_14679844 | 14621517 | CTAAAACT others(1790): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(182): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0002c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(23): Show | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0023others(182): Show | 185 | 372 | 0.4973 | -1797 | c.192 others(19): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 15/15 | chr19 | TogoVar | ||||||
| RIMOC1_chr5_41899344_41926636 | 41901817 | GAGCCAGA others(1790): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02486.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012a0001c0001t0013others(2): Show | a0001c0001t0010g0018a0001c0001t0010g0049a0001c0001t0012g0029others(5): Show | 13 | 318 | 0.0409 | -1797 | c.-25 others(10): Show |
RIMOC1 | ENSG00000205765.10 | transcript | ENST00000381647.7 | protein_coding | 2526 | chr5 | TogoVar | ||||||
| DIP2B_chr12_50499985_50753657 | 50579927 | CTCCACTT others(1788): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(58): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0003t0002a0001c0003t0033others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0034others(58): Show | 61 | 284 | 0.2148 | -1795 | c.101 others(19): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FBXO16_chr8_28423412_28495229 | 28453201 | AAAGTAGT others(1788): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03225.hp1 HG03516.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0028a0002c0002t0001g0065a0002c0002t0001g0387others(3): Show | 6 | 394 | 0.0152 | -1795 | c.507 others(16): Show |
FBXO16 | ENSG00000214050.8 | transcript | ENST00000380254.7 | protein_coding | 5/8 | chr8 | TogoVar | ||||||
| WDR76_chr15_43822002_43873412 | 43844859 | GGGAGCTT others(1788): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0087a0001c0001t0001g0110a0001c0001t0001g0118others(1): Show | 4 | 306 | 0.0131 | -1795 | c.103 others(18): Show |
WDR76 | ENSG00000092470.12 | transcript | ENST00000263795.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PLA2G2C_chr1_20158055_20191518 | 20172257 | GGCCACGC others(1787): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG03139.hp2 NA21309.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0221a0004c0004t0001g0268 | 2 | 406 | 0.0049 | -1794 | c.179 others(15): Show |
PLA2G2C | ENSG00000187980.7 | transcript | ENST00000679259.1 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
| MYBL2_chr20_43662114_43721482 | 43689043 | GGCCTCCC others(1786): Show |
G | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 274 | 0.0037 | -1793 | c.500 others(17): Show |
MYBL2 | ENSG00000101057.16 | transcript | ENST00000217026.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| VWC2L_chr2_214406054_214583976 | 214512658 | ATGACCAA others(1785): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 282 | 0.0036 | -1792 | c.521 others(19): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| CCDC127_chr5_191868_223153 | 211523 | GGATGGGG others(1783): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00738.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0035a0001c0001t0165others(8): Show | a0001c0001t0006g0004a0001c0001t0035g0016a0001c0001t0165g0050others(8): Show | 17 | 406 | 0.0419 | -1790 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
| ZNF727_chr7_64040434_64090339 | 64056804 | TCTAGGGC others(1783): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0003 | a0003c0003t0039 | a0003c0003t0039g0303 | 1 | 408 | 0.0025 | -1790 | c.3+1 others(15): Show |
ZNF727 | ENSG00000214652.6 | transcript | ENST00000456806.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SH3D19_chr4_151115281_151330605 | 151240192 | TCCAGGAG others(1781): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216a0001c0002t0001g0237a0001c0002t0001g0240 | 3 | 282 | 0.0106 | -1788 | c.113 others(19): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | ||||||
| RAB38_chr11_88108251_88180443 | 88144770 | GAGTAGGA others(1779): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 420 | 0.0024 | -1786 | c.483 others(17): Show |
RAB38 | ENSG00000123892.12 | transcript | ENST00000243662.11 | protein_coding | 2/2 | chr11 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(1778): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp2 others(57): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0035others(16): Show | a0001c0001t0001a0001c0008t0001a0001c0035t0001others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0022others(57): Show | 60 | 185 | 0.3243 | -1785 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408156 | GCAACACT others(1778): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0029 | a0003c0029t0001 | a0003c0029t0001g0151 | 1 | 185 | 0.0054 | -1785 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408229 | GCAGGAGG others(1778): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02622.hp2 others(2): Show |
a0001a0007a0014 | a0001c0013a0007c0017a0014c0025 | a0001c0013t0001a0007c0017t0001a0014c0025t0001 | a0001c0013t0001g0068a0001c0013t0001g0164a0007c0017t0001g0167others(2): Show | 5 | 185 | 0.0270 | -1785 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408439 | GCAGGAGG others(1778): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01516.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0002others(1): Show | a0001c0001t0001a0002c0004t0001a0003c0002t0001others(2): Show | a0001c0001t0001g0031a0002c0004t0001g0134a0003c0002t0001g0109others(3): Show | 6 | 185 | 0.0324 | -1785 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392913 | CAGGTGGT others(1778): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0064 | 1 | 346 | 0.0029 | -1785 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 2257631 | TAAAAATG others(1777): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG03540.hp2 |
a0001 | a0001c0004a0001c0012 | a0001c0004t0013a0001c0012t0014 | a0001c0004t0013g0033a0001c0012t0014g0004 | 2 | 104 | 0.0192 | -1784 | c.-42 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82974916 | CCAGGGCC others(1775): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02451.hp2 others(9): Show |
a0001a0003a0004 | a0001c0003a0001c0006a0001c0011others(4): Show | a0001c0003t0015a0001c0006t0011a0001c0006t0018others(6): Show | a0001c0003t0015g0199a0001c0006t0011g0018a0001c0006t0011g0027others(9): Show | 12 | 266 | 0.0451 | -1782 | c.460 others(18): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288210 | TCTGCTCC others(1774): Show |
T | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 295 | 0.0034 | -1781 | c.*35 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4180 | chr1 | TogoVar | ||||||
| KCNH1_chr1_210673314_211139148 | 211126390 | GTCCCAGC others(1772): Show |
G | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 164 | 0.0061 | -1779 | c.79+ others(15): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
| ZDHHC19_chr3_196192452_196216400 | 196199732 | TCAGGAGT others(1772): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG02965.hp2 |
a0001a0012 | a0001c0001a0012c0014 | a0001c0001t0009a0012c0014t0001 | a0001c0001t0009g0247a0012c0014t0001g0140 | 2 | 442 | 0.0045 | -1779 | c.688 others(16): Show |
ZDHHC19 | ENSG00000163958.14 | transcript | ENST00000296326.8 | protein_coding | 5/7 | chr3 | TogoVar | ||||||
| ARHGAP26_chr5_142765377_143234007 | 142890933 | TTCCTTAT others(1771): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0020 | a0001c0001t0015g0037a0001c0001t0020g0049 | 2 | 198 | 0.0101 | -1778 | c.487 others(17): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FMN2_chr1_240086883_240480187 | 240229699 | GCCAGTGG others(1771): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(75): Show |
a0001a0002a0003others(42): Show | a0001c0009a0002c0127a0003c0010others(60): Show | a0001c0009t0001a0002c0127t0001a0003c0010t0001others(69): Show | a0001c0009t0001g0072a0001c0009t0001g0111a0002c0127t0001g0137others(75): Show | 78 | 174 | 0.4483 | -1778 | c.406 others(21): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 6/17 | chr1 | TogoVar | ||||||
| MYO9A_chr15_71817291_72123150 | 72022830 | GTGAGTCA others(1771): Show |
G | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 308 | 0.0033 | -1778 | c.998 others(17): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 4/41 | chr15 | TogoVar | ||||||
| TRIP13_chr5_887884_923120 | 898074 | GTCAGTGT others(1771): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0060others(2): Show | 10 | 402 | 0.0249 | -1778 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1888173 | GTGAGTGG others(1770): Show |
G | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0194 | 1 | 363 | 0.0028 | -1777 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MUC4_chr3_195741771_195816929 | 195786333 | GTCAGTGA others(1769): Show |
G | disruptive_inframe_deletion | MODERATE | NA18947.hp2 NA18979.hp2 NA18982.hp1 others(2): Show |
a0011a0077a0184 | a0011c0008a0011c0028a0077c0169others(1): Show | a0011c0008t0001a0011c0028t0001a0077c0169t0013others(1): Show | a0011c0008t0001g0058a0011c0008t0001g0059a0011c0028t0001g0057others(2): Show | 5 | 249 | 0.0201 | -1776 | c.347 others(9): Show |
p.Ala others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5358/16756 | 3471/16239 | 1157/5412 | chr3 | TogoVar | ||
| SCGB2B2_chr19_34585644_34682159 | 34613201 | TGATTCTC others(1768): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0063 | 1 | 370 | 0.0027 | -1775 | c.-20 others(23): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
| UQCRH_chr1_46298698_46321776 | 46320001 | GTGTTAGC others(1768): Show |
G | downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 434 | 0.0023 | -1775 | c.*34 others(11): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 3226 | chr1 | TogoVar | ||||||
| PPP2R2D_chr10_131896008_131964834 | 131917991 | CAGGGACC others(1767): Show |
C | intron_variant | MODIFIER | HG02080.hp1 HG02523.hp2 NA18959.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0046a0001c0001t0006g0072a0001c0001t0006g0076others(3): Show | 6 | 394 | 0.0152 | -1774 | c.101 others(19): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PSMD9_chr12_121883790_121923297 | 121904301 | GTGGTGGC others(1766): Show |
G | intron_variant | MODIFIER | HG01109.hp2 NA19030.hp2 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0006 | a0004c0004t0001g0039a0004c0004t0006g0033 | 2 | 398 | 0.0050 | -1773 | c.555 others(17): Show |
PSMD9 | ENSG00000110801.14 | transcript | ENST00000541212.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| WDR72_chr15_53508741_53764663 | 53542066 | TCTGCAGG others(1766): Show |
T | intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0222 | 1 | 316 | 0.0032 | -1773 | c.314 others(21): Show |
WDR72 | ENSG00000166415.15 | transcript | ENST00000360509.10 | protein_coding | 18/19 | chr15 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237784 | CCCTCCCG others(1765): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0035 | 1 | 106 | 0.0094 | -1772 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| EPHB1_chr3_134790260_135265467 | 135123692 | CTTATTGT others(1765): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03225.hp2 HG06807.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0002t0025a0001c0003t0003 | a0001c0002t0007g0026a0001c0002t0025g0118a0001c0003t0003g0006 | 3 | 134 | 0.0224 | -1772 | c.962 others(17): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168698305 | ACTGTAGT others(1765): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0142 | 1 | 156 | 0.0064 | -1772 | c.150 others(19): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TAS2R38_chr7_141967631_141978773 | 141970723 | TATCACAC others(1765): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 438 | 0.0023 | -1772 | c.*19 others(10): Show |
TAS2R38 | ENSG00000257138.1 | transcript | ENST00000547270.1 | protein_coding | 1907 | chr7 | TogoVar | ||||||
| DTHD1_chr4_36276616_36352511 | 36297420 | GGCTCTTG others(1763): Show |
G | intron_variant | MODIFIER | HG01517.hp2 | a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0214 | 1 | 308 | 0.0033 | -1770 | c.164 others(19): Show |
DTHD1 | ENSG00000197057.10 | transcript | ENST00000639862.2 | protein_coding | 5/9 | chr4 | TogoVar | ||||||
| SPRYD7_chr13_49907702_49941340 | 49938982 | AGTCACAT others(1762): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01167.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0019a0001c0001t0003g0036a0001c0001t0003g0037others(3): Show | 10 | 380 | 0.0263 | -1769 | c.-45 others(11): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 2643 | chr13 | TogoVar | ||||||
| TAF11L8_chr5_17585364_17595960 | 17587249 | TGGCTTTC others(1762): Show |
T | downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 102 | 0.0098 | -1769 | c.*13 others(11): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3114 | chr5 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1641907 | CCCCGCCG others(1761): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | -1768 | c.181 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| TAF11L8_chr5_17585364_17595960 | 17586866 | CAGCGGCC others(1761): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01981.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0000a0003c0010t0000 | a0001c0001t0000g0000a0003c0010t0000g0000 | 7 | 102 | 0.0686 | -1768 | c.*17 others(11): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3497 | chr5 | TogoVar | ||||||
| TAF11L8_chr5_17585364_17595960 | 17586870 | GGCCTCAT others(1760): Show |
G | downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 102 | 0.0098 | -1767 | c.*17 others(11): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3493 | chr5 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745270 | CGGGGGTC others(1759): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03516.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244a0001c0001t0004g0315a0001c0001t0004g0316others(1): Show | 4 | 366 | 0.0109 | -1766 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DNASE2B_chr1_84393484_84420018 | 84417289 | TAGAAAAC others(1758): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 426 | 0.0024 | -1765 | c.*24 others(11): Show |
DNASE2B | ENSG00000137976.8 | transcript | ENST00000370665.4 | protein_coding | 2272 | chr1 | TogoVar | ||||||
| GNB1_chr1_1780286_1896087 | 1842390 | CCTGCACT others(1758): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 336 | 0.0030 | -1765 | c.-95 others(17): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744929 | CGGGGGTC others(1758): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0217 | 1 | 366 | 0.0027 | -1765 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TAF11L8_chr5_17585364_17595960 | 17586955 | GTGCGCGC others(1758): Show |
G | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 102 | 0.0098 | -1765 | c.*16 others(11): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3408 | chr5 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1401497 | GCTCCCTC others(1757): Show |
G | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 40 | 0.0250 | -1764 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |