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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC77_chr12_396644_447642 | 420937 | A | ATACACAC others(1768): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 202 | 0.0050 | 1775 | c.413 others(1792): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(1768): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0292 |
2 | 348 | 0.0057 | 1775 | c.413 others(1792): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1768): Show |
downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 57 | 0.0175 | 1775 | c.*31 others(1786): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5023893 | G | GATTTTTT others(1768): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 362 | 0.0028 | 1775 | c.226 others(1792): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1768): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0059 | 1 | 5 | 0.2000 | 1775 | c.189 others(1794): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397569 | C | CTGTCATC others(1768): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0196 | 1 | 242 | 0.0041 | 1775 | c.227 others(1792): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1768): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0029 | a0006c0029t0001 | a0006c0029t0001g0188 | 1 | 126 | 0.0079 | 1775 | c.45- others(1790): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1769): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0099 | 1 | 30 | 0.0333 | 1776 | c.505 others(1795): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTGC others(1769): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0121 | a0001c0002t0121g0135 | 1 | 277 | 0.0036 | 1776 | c.-23 others(1787): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1769): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0231 | 1 | 11 | 0.0909 | 1776 | c.104 others(1795): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1769): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 32 | 0.0313 | 1776 | c.218 others(1791): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1769): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0011 | a0011c0011 | a0011c0011t0064 | a0011c0011t0064g0292 | 1 | 32 | 0.0313 | 1776 | c.218 others(1791): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1769): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 3 | 0.3333 | 1776 | c.-12 others(1795): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCA others(1769): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 177 | 0.0056 | 1776 | c.471 others(1791): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1769): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 82 | 0.0122 | 1776 | c.147 others(1793): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGTGTTG others(1769): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 164 | 0.0061 | 1776 | c.464 others(1789): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286439 | T | TGGGTTTG others(1769): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212 a0001c0001t0003g0213 |
2 | 210 | 0.0095 | 1776 | c.774 others(1793): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGGGAAGG others(1769): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0017 | a0001c0017t0016 | a0001c0017t0016g0130 | 1 | 295 | 0.0034 | 1776 | c.115 others(1793): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46293970 | G | AACTCTAG others(1769): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 a0001c0001t0002g0338 |
2 | 230 | 0.0087 | 1776 | c.340 others(1793): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294156 | G | ATGCCCGG others(1769): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309 | 1 | 327 | 0.0031 | 1776 | c.340 others(1793): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294562 | A | AACTCTAG others(1769): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0388 | 1 | 296 | 0.0034 | 1776 | c.340 others(1793): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315770 | T | TACCACCA others(1770): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 52 | 0.0192 | 1777 | c.259 others(1796): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGTCG others(1770): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0199 | 1 | 304 | 0.0033 | 1777 | c.-22 others(1788): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1770): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0007 | a0001c0007t0020 | a0001c0007t0020g0283 | 1 | 32 | 0.0313 | 1777 | c.218 others(1792): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1770): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 12 | 0.0833 | 1777 | c.228 others(1794): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1770): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0035 | a0035c0076 | a0035c0076t0001 | a0035c0076t0001g0079 | 1 | 12 | 0.0833 | 1777 | c.228 others(1794): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1770): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03516.hp2 |
a0005a0031 | a0005c0040a0031c0043 | a0005c0040t0004a0031c0043t0004 | a0005c0040t0004g0330 a0031c0043t0004g0331 |
2 | 13 | 0.1538 | 1777 | c.228 others(1794): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1770): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG04204.hp2 |
a0006a0014a0021 | a0006c0006a0014c0103a0021c0092 | a0006c0006t0001a0014c0103t0003a0021c0092t0003 | a0006c0006t0001g0266 a0014c0103t0003g0218 a0021c0092t0003g0219 |
3 | 14 | 0.2143 | 1777 | c.228 others(1794): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1770): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0116 | 1 | 9 | 0.1111 | 1777 | c.*39 others(1788): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(1770): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0270 | 1 | 179 | 0.0056 | 1777 | c.600 others(1796): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(1770): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0269 | 1 | 179 | 0.0056 | 1777 | c.600 others(1796): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 3 | 0.3333 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 3 | 0.3333 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0284 | 1 | 3 | 0.3333 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(69): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0012a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0014 others(69): Show |
72 | 74 | 0.9730 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 3 | 0.3333 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG02630.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0005c0004t0002 | a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0001t0001g0094 others(5): Show |
8 | 10 | 0.8000 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 3 | 0.3333 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 3 | 0.3333 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02965.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0258 a0001c0001t0002g0136 a0001c0001t0002g0142 |
3 | 5 | 0.6000 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 3 | 0.3333 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02622.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0038 others(15): Show |
18 | 20 | 0.9000 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(163): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(162): Show |
166 | 168 | 0.9881 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 3 | 0.3333 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 3 | 0.3333 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 3 | 0.3333 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0237 others(1): Show |
4 | 6 | 0.6667 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 44025526 | T | TGCTATAT others(1770): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 a0001c0001t0002g0226 |
2 | 4 | 0.5000 | 1777 | c.411 others(1796): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675133 | T | TCCCTCCC others(1770): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0015 | a0015c0023 | a0015c0023t0003 | a0015c0023t0003g0008 | 1 | 312 | 0.0032 | 1777 | c.483 others(1792): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1771): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0097 a0001c0006t0001g0098 |
2 | 31 | 0.0645 | 1778 | c.505 others(1797): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar |