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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIN2D_chr19_48388668_48449931 | 48424265 | A | ATTTTTTT others(2827): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0012 | a0001c0012t0014 | a0001c0012t0014g0302 | 1 | 269 | 0.0037 | 2834 | c.225 others(2853): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2827): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0207 | 1 | 349 | 0.0029 | 2834 | c.225 others(2853): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2827): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0274 | 1 | 349 | 0.0029 | 2834 | c.225 others(2853): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2827): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 a0001c0002t0002g0304 a0001c0002t0002g0305 |
3 | 351 | 0.0085 | 2834 | c.225 others(2853): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2827): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0209 | 1 | 349 | 0.0029 | 2834 | c.225 others(2853): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424267 | T | TTTTTTTT others(2827): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 345 | 0.0029 | 2834 | c.225 others(2853): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NCEH1_chr3_172625249_172716067 | 172685023 | T | TAGCGGCT others(2827): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0066 | 1 | 324 | 0.0031 | 2834 | c.138 others(2853): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2827): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 3 | 0.3333 | 2834 | c.-28 others(2845): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
STT3A_chr11_125587852_125628091 | 125589067 | A | AAGAACTA others(2827): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0014 | 1 | 324 | 0.0031 | 2834 | c.-38 others(2845): Show |
STT3A | ENSG00000134910.14 | transcript | ENST00000392708.9 | protein_coding | 3784 | chr11 | TogoVar | |||||||
ZSCAN22_chr19_58321994_58347332 | 58323670 | T | TAAAGAAG others(2827): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 393 | 0.0025 | 2834 | c.-34 others(2845): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 3323 | chr19 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3654590 | T | TTGTAAAT others(2828): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0114 | 1 | 388 | 0.0026 | 2835 | c.-52 others(2852): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(2828): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 | 1 | 174 | 0.0057 | 2835 | c.294 others(2852): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
GRIN2D_chr19_48388668_48449931 | 48424265 | A | ATTTTTTT others(2828): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0213 | 1 | 269 | 0.0037 | 2835 | c.225 others(2854): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424265 | A | ATTTTTTT others(2828): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0306 a0001c0002t0002g0307 |
2 | 270 | 0.0074 | 2835 | c.225 others(2854): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2828): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02895.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0002a0001c0010t0002 | a0001c0002t0002g0091 a0001c0010t0002g0210 |
2 | 350 | 0.0057 | 2835 | c.225 others(2854): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2828): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 349 | 0.0029 | 2835 | c.225 others(2854): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424267 | T | TTTTTTTT others(2828): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0165 | 1 | 345 | 0.0029 | 2835 | c.225 others(2854): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2828): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 227 | 0.0044 | 2835 | c.-25 others(2852): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2828): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 227 | 0.0044 | 2835 | c.-25 others(2852): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2828): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 227 | 0.0044 | 2835 | c.-25 others(2852): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(2828): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 62 | 0.0161 | 2835 | c.-21 others(2846): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(2828): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 2 | 4 | 0.5000 | 2835 | c.-34 others(2850): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2828): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 159 | 0.0063 | 2835 | c.-27 others(2852): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2829): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0211 | 1 | 264 | 0.0038 | 2836 | c.16+ others(2851): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17658148 | T | TTCTTCAT others(2829): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0243 | 1 | 303 | 0.0033 | 2836 | c.121 others(2853): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2829): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0250 | 1 | 402 | 0.0025 | 2836 | c.414 others(2853): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(2829): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0086 | 1 | 129 | 0.0078 | 2836 | c.280 others(2857): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424265 | A | ATTTTTTT others(2829): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0211 | 1 | 269 | 0.0037 | 2836 | c.225 others(2855): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2829): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 349 | 0.0029 | 2836 | c.225 others(2855): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2829): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0208 | 1 | 349 | 0.0029 | 2836 | c.225 others(2855): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424267 | T | TTTTTTTT others(2829): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01346.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0154 others(4): Show |
7 | 351 | 0.0199 | 2836 | c.225 others(2855): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2829): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0055 | 1 | 233 | 0.0043 | 2836 | c.-91 others(2857): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2829): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0030 | 1 | 82 | 0.0122 | 2836 | c.147 others(2853): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2829): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 159 | 0.0063 | 2836 | c.-27 others(2853): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2829): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 159 | 0.0063 | 2836 | c.-27 others(2853): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2829): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 159 | 0.0063 | 2836 | c.-27 others(2853): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2829): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 159 | 0.0063 | 2836 | c.-27 others(2853): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
TRPC5_chrX_111763011_112087776 | 112073432 | G | GCTAATTT others(2829): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 159 | 0.0063 | 2836 | c.-22 others(2853): Show |
TRPC5 | ENSG00000072315.4 | transcript | ENST00000262839.3 | protein_coding | 1/10 | chrX | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(2829): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 62 | 0.0161 | 2836 | c.*53 others(2847): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72106545 | A | ACACTATT others(2830): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 213 | 0.0047 | 2837 | c.958 others(2854): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17658148 | T | TTCTTCAT others(2830): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0244 | 1 | 303 | 0.0033 | 2837 | c.121 others(2854): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2830): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02886.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0341 a0003c0003t0001g0342 |
2 | 403 | 0.0050 | 2837 | c.414 others(2854): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(2830): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0121 | 1 | 129 | 0.0078 | 2837 | c.280 others(2858): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(2830): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 4 | 0.2500 | 2837 | c.115 others(2856): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EI24_chr11_125564477_125589684 | 125589067 | A | AAGAACTA others(2830): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0103 | 1 | 322 | 0.0031 | 2837 | c.*53 others(2848): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 4384 | chr11 | TogoVar | |||||||
GRIN2D_chr19_48388668_48449931 | 48424267 | T | TTTTTTTT others(2830): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0109 | 1 | 345 | 0.0029 | 2837 | c.225 others(2856): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424267 | T | TTTTTTTT others(2830): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0311 | 1 | 345 | 0.0029 | 2837 | c.225 others(2856): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48424267 | T | TTTTTTTT others(2830): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0284 | 1 | 345 | 0.0029 | 2837 | c.225 others(2856): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2830): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 233 | 0.0043 | 2837 | c.-91 others(2858): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2830): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03490.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0203 a0001c0003t0001g0164 |
2 | 5 | 0.4000 | 2837 | c.515 others(2854): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar |