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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2770): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0267 | 1 | 7 | 0.1429 | 2777 | c.*27 others(2788): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2770): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 18 | 0.0556 | 2777 | c.372 others(2792): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2770): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 18 | 0.0556 | 2777 | c.372 others(2792): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2770): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 a0001c0001t0001g0313 |
2 | 19 | 0.1053 | 2777 | c.372 others(2792): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2770): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 18 | 0.0556 | 2777 | c.372 others(2792): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2770): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0029 | 1 | 18 | 0.0556 | 2777 | c.372 others(2792): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2770): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 18 | 0.0556 | 2777 | c.372 others(2792): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100309720 | C | CAAAAAAA others(2770): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0018 | 1 | 278 | 0.0036 | 2777 | c.325 others(2792): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100311775 | A | ACGTAGGT others(2770): Show |
frameshift_variant others(1): Show |
HIGH | HG01884.hp2 | a0005 | a0005c0008 | a0005c0008t0007 | a0005c0008t0007g0029 | 1 | 341 | 0.0029 | 2777 | c.671 others(2784): Show |
p.Ala others(5): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | 856/3185 | 672/1650 | 224/549 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2771): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 197 | 0.0051 | 2778 | c.409 others(2795): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2771): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 197 | 0.0051 | 2778 | c.409 others(2795): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2771): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0072 | 1 | 371 | 0.0027 | 2778 | c.96+ others(2793): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2771): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 146 | 0.0068 | 2778 | c.127 others(2797): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10749357 | C | CTGAATTT others(2771): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0243 | 1 | 370 | 0.0027 | 2778 | c.56- others(2793): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2771): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 159 | 0.0063 | 2778 | c.-27 others(2795): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2771): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 7 | 0.1429 | 2778 | c.*27 others(2789): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2771): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0015 | 1 | 23 | 0.0435 | 2778 | c.284 others(2797): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2771): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 18 | 0.0556 | 2778 | c.372 others(2793): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2771): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0359 |
2 | 19 | 0.1053 | 2778 | c.372 others(2793): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2771): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0031 | 1 | 18 | 0.0556 | 2778 | c.372 others(2793): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2771): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 18 | 0.0556 | 2778 | c.372 others(2793): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2771): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 18 | 0.0556 | 2778 | c.372 others(2793): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2771): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 18 | 0.0556 | 2778 | c.372 others(2793): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2771): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 18 | 0.0556 | 2778 | c.372 others(2793): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2771): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0141 | 1 | 18 | 0.0556 | 2778 | c.372 others(2793): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2771): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 18 | 0.0556 | 2778 | c.372 others(2793): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2771): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18998.hp2 NA19064.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 others(1): Show |
4 | 21 | 0.1905 | 2778 | c.372 others(2793): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005545 | C | CATCACCA others(2771): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0060 | 1 | 169 | 0.0059 | 2778 | c.*11 others(2797): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100309720 | C | CAAAAAAA others(2771): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 | 1 | 278 | 0.0036 | 2778 | c.325 others(2793): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2771): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0008 | 1 | 211 | 0.0047 | 2778 | c.-22 others(2797): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2772): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 197 | 0.0051 | 2779 | c.409 others(2796): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(2772): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0206 | 1 | 64 | 0.0156 | 2779 | c.294 others(2796): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2772): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0250 | 1 | 63 | 0.0159 | 2779 | c.*14 others(2790): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2772): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 159 | 0.0063 | 2779 | c.-27 others(2796): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2772): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 7 | 0.1429 | 2779 | c.*27 others(2790): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2772): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 7 | 0.1429 | 2779 | c.*27 others(2790): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2772): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18983.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0184 a0002c0003t0001g0302 |
2 | 19 | 0.1053 | 2779 | c.372 others(2794): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2772): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02965.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0002a0002c0005t0001 | a0001c0002t0002g0337 a0002c0005t0001g0189 |
2 | 19 | 0.1053 | 2779 | c.372 others(2794): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2772): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 18 | 0.0556 | 2779 | c.372 others(2794): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2772): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 18 | 0.0556 | 2779 | c.372 others(2794): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2772): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0368 a0001c0001t0001g0369 |
2 | 19 | 0.1053 | 2779 | c.372 others(2794): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2772): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364 | 1 | 18 | 0.0556 | 2779 | c.372 others(2794): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2772): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 18 | 0.0556 | 2779 | c.372 others(2794): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2772): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 18 | 0.0556 | 2779 | c.372 others(2794): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2772): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 18 | 0.0556 | 2779 | c.372 others(2794): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2772): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0362 | 1 | 18 | 0.0556 | 2779 | c.372 others(2794): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100313888 | A | AAAAAAAA others(2772): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 342 | 0.0029 | 2779 | c.982 others(2794): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2773): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 197 | 0.0051 | 2780 | c.409 others(2797): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2773): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0077 | 1 | 371 | 0.0027 | 2780 | c.96+ others(2795): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
LDLR_chr19_11084463_11138820 | 11106233 | G | GTTTTTTT others(2773): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 356 | 0.0028 | 2780 | c.695 others(2795): Show |
LDLR | ENSG00000130164.15 | transcript | ENST00000558518.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |