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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNG13_chr16_793041_805734 | 795580 | G | GCCCTTCT others(404): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 243 | 0.0041 | 411 | c.*31 others(422): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2460 | chr16 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152562 | A | ACCATCTC others(404): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 260 | 0.0038 | 411 | c.804 others(428): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152787 | A | ACCTCCTC others(404): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0002t0008a0001c0004t0004 | a0001c0002t0003g0131 a0001c0002t0008g0132 a0001c0004t0004g0254 |
3 | 255 | 0.0118 | 411 | c.804 others(428): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322245 | T | TGGAATAT others(404): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 306 | 0.0033 | 411 | c.-28 others(422): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2724 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322340 | T | TATGCAGT others(404): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0206 | 1 | 303 | 0.0033 | 411 | c.-27 others(422): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2629 | chr21 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(404): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 13 | 0.0769 | 411 | c.-79 others(420): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 1969684 | T | TATAAATA others(404): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 9 | 0.1111 | 411 | c.-51 others(422): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 3992 | chr8 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 1969684 | T | TATACATA others(404): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0064 | a0001c0001t0008g0287 a0001c0001t0064g0037 |
2 | 10 | 0.2000 | 411 | c.-51 others(422): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 3992 | chr8 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 1969684 | T | TATACATA others(404): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(120): Show |
a0001a0004a0006 | a0001c0001a0001c0009a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0188 others(115): Show |
123 | 131 | 0.9389 | 411 | c.-51 others(422): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 3992 | chr8 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442656 | C | CCATCACC others(404): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0001 | a0002c0001t0052 | a0002c0001t0052g0044 | 1 | 276 | 0.0036 | 411 | c.691 others(426): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442671 | C | CCATCACC others(404): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0069 | 1 | 222 | 0.0045 | 411 | c.691 others(426): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442773 | T | TTACCACC others(404): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0116 | 1 | 196 | 0.0051 | 411 | c.691 others(426): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442773 | T | TTACCACC others(404): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0011a0002c0001t0001a0002c0001t0006others(1): Show | a0001c0002t0011g0101 a0002c0001t0001g0100 a0002c0001t0006g0097 others(2): Show |
5 | 200 | 0.0250 | 411 | c.691 others(426): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228775 | C | CCCCCAAC others(404): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0153 | a0001c0001t0153g0109 | 1 | 341 | 0.0029 | 411 | c.64+ others(428): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997407 | G | GGGGTCGG others(404): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 364 | 0.0027 | 411 | c.-20 others(422): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 263 | chr6 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(404): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 77 | 0.0130 | 411 | c.-27 others(422): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(404): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 77 | 0.0130 | 411 | c.-27 others(422): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124506792 | T | TGGGGGGG others(404): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 243 | 0.0041 | 411 | c.624 others(428): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
LY75_chr2_159798355_159909756 | 159874289 | T | TATATAAA others(404): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0229 | 1 | 326 | 0.0031 | 411 | c.197 others(430): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19238066 | T | TATAATTA others(404): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02071.hp1 HG03669.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0025a0002c0005others(5): Show | a0001c0003t0001a0001c0025t0001a0002c0005t0001others(6): Show | a0001c0003t0001g0026 a0001c0003t0001g0035 a0001c0025t0001g0127 others(8): Show |
11 | 76 | 0.1447 | 411 | c.299 others(432): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7061746 | T | TATAATAT others(404): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 248 | 0.0081 | 411 | c.-31 others(422): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3071 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061746 | T | TATAATAT others(404): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 247 | 0.0040 | 411 | c.-31 others(422): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3071 | chr19 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77118034 | C | CGGGATGG others(404): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0334 | 1 | 337 | 0.0030 | 411 | c.-25 others(430): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | |||||||
METTL25B_chr1_156723469_156741960 | 156735539 | A | AAAAAAAA others(404): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 385 | 0.0026 | 411 | c.112 others(428): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735539 | A | AAAAAAAA others(404): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0254 | 1 | 385 | 0.0026 | 411 | c.112 others(428): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735539 | A | AAAAAAAA others(404): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 385 | 0.0026 | 411 | c.112 others(428): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82139 | C | CCGGCGCT others(404): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 430 | 0.0023 | 411 | c.301 others(426): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735539 | A | AAAAAAAA others(404): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 359 | 0.0028 | 411 | c.*18 others(422): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1763 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735539 | A | AAAAAAAA others(404): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 359 | 0.0028 | 411 | c.*18 others(422): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1763 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735539 | A | AAAAAAAA others(404): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 359 | 0.0028 | 411 | c.*18 others(422): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1763 | chr1 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189595 | A | ATATATAT others(404): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0055 | 1 | 277 | 0.0036 | 411 | c.-5+ others(426): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3326168 | T | TTTATAAT others(404): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 8 | 0.1250 | 411 | c.710 others(428): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MYO1G_chr7_44957662_44984015 | 44961450 | C | CTGAGGGG others(404): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0092 |
3 | 78 | 0.0385 | 411 | c.*12 others(422): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1211 | chr7 | TogoVar | |||||||
NCR1_chr19_54901148_54918073 | 54916317 | C | CTTTTTTT others(404): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 NA18967.hp2 NA19063.hp2 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0007 a0003c0004t0006g0042 a0003c0004t0006g0112 |
3 | 148 | 0.0203 | 411 | c.*34 others(422): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 3245 | chr19 | TogoVar | |||||||
NCR1_chr19_54901148_54918073 | 54916317 | C | CTTTTTTT others(404): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG02293.hp1 HG02293.hp2 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0007 | 3 | 148 | 0.0203 | 411 | c.*34 others(422): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 3245 | chr19 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(404): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0360 | 1 | 118 | 0.0085 | 411 | c.-75 others(430): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82139 | C | CCGGCGCT others(404): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 340 | 0.0029 | 411 | c.*45 others(422): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3246 | chr16 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949236 | C | CCCCCCTG others(404): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 240 | 0.0042 | 411 | c.360 others(430): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OSBPL9_chr1_51612092_51794219 | 51711466 | A | ACCCCCCC others(404): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 13 | 0.0769 | 411 | c.242 others(428): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70554949 | T | TCCCCTCC others(404): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0124 | 1 | 292 | 0.0034 | 411 | c.226 others(430): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344737 | A | AGGGGATT others(404): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02572.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 a0002c0002t0001g0021 |
5 | 34 | 0.1471 | 411 | c.4-1 others(424): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76063962 | A | ACCCCCCC others(404): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0017 | a0017c0033 | a0017c0033t0014 | a0017c0033t0014g0139 | 1 | 158 | 0.0063 | 411 | c.633 others(428): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741442 | G | GGGGGGCT others(404): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0174 | 1 | 214 | 0.0047 | 411 | c.143 others(426): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976938 | G | GCAACCCC others(404): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0012 | a0012c0040 | a0012c0040t0004 | a0012c0040t0004g0192 | 1 | 66 | 0.0152 | 411 | c.215 others(428): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 976938 | G | GCAACCCC others(404): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0007 | 1 | 68 | 0.0147 | 411 | c.*23 others(422): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1074 | chr1 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2124353 | C | CTGTAGTT others(404): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 62 | 0.0161 | 411 | c.335 others(430): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51449643 | A | AACAGCAT others(404): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0010a0001c0008t0001 | a0001c0001t0010g0042 a0001c0008t0001g0020 |
2 | 21 | 0.0952 | 411 | c.479 others(430): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(404): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 1 | 30 | 0.0333 | 411 | c.*36 others(422): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(404): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 31 | 0.0645 | 411 | c.*36 others(422): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(404): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 30 | 0.0333 | 411 | c.*36 others(422): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar |