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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(720): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0121 | a0121c0082 | a0121c0082t0002 | a0121c0082t0002g0040 | 1 | 98 | 0.0102 | 727 | c.118 others(746): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
FMR1NB_chrX_147976337_148031665 | 147992518 | C | CACCCCCA others(720): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0082 |
3 | 273 | 0.0110 | 727 | c.278 others(746): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | chrX | TogoVar | |||||||
FRMD6_chr14_51646910_51735727 | 51669172 | T | TATCTGGC others(720): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18994.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0183 a0001c0004t0005g0184 |
2 | 386 | 0.0052 | 727 | c.-14 others(748): Show |
FRMD6 | ENSG00000139926.16 | transcript | ENST00000344768.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(720): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0205 | 1 | 4 | 0.2500 | 727 | c.126 others(744): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323553 | T | TGTGTGTG others(720): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0024 | 1 | 152 | 0.0066 | 727 | c.-47 others(738): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4758 | chrX | TogoVar | |||||||
HNF4A_chr20_44350699_44437845 | 44404776 | T | TGTGTTTG others(720): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 162 | 0.0062 | 727 | c.50- others(742): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(720): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 89 | 0.0112 | 727 | c.666 others(744): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(720): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0085 | 1 | 119 | 0.0084 | 727 | c.258 others(744): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(720): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0013 | a0013c0055 | a0013c0055t0018 | a0013c0055t0018g0271 | 1 | 119 | 0.0084 | 727 | c.258 others(744): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857729 | C | CAGTGGTG others(720): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0032 | a0003c0032t0001 | a0003c0032t0001g0007 | 1 | 190 | 0.0053 | 727 | c.153 others(746): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(720): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01123.hp2 others(4): Show |
a0002a0007a0014others(1): Show | a0002c0002a0007c0007a0014c0044others(1): Show | a0002c0002t0002a0002c0002t0009a0007c0007t0002others(2): Show | a0002c0002t0002g0062 a0002c0002t0009g0043 a0007c0007t0002g0064 others(4): Show |
7 | 46 | 0.1522 | 727 | c.197 others(746): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(720): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0133 | 1 | 8 | 0.1250 | 727 | c.115 others(744): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(720): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0111 | 1 | 8 | 0.1250 | 727 | c.115 others(744): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MROH7_chr1_54636786_54715266 | 54658614 | T | TGAAAATT others(720): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0036 | a0036c0067 | a0036c0067t0003 | a0036c0067t0003g0368 | 1 | 377 | 0.0027 | 727 | c.123 others(746): Show |
MROH7 | ENSG00000184313.20 | transcript | ENST00000421030.7 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(720): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0186 | 1 | 246 | 0.0041 | 727 | c.-8+ others(740): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(720): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0082 | 1 | 246 | 0.0041 | 727 | c.-8+ others(740): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(720): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03540.hp2 HG06807.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0008 | a0001c0004t0007a0002c0008t0001 | a0001c0004t0007g0086 a0001c0004t0007g0093 a0002c0008t0001g0032 others(1): Show |
4 | 67 | 0.0597 | 727 | c.166 others(746): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCCT others(720): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0223 | 1 | 206 | 0.0049 | 727 | c.433 others(744): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(720): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0040 | 1 | 122 | 0.0082 | 727 | c.*70 others(738): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(720): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 122 | 0.0082 | 727 | c.*70 others(738): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318053 | C | CCCCCCTC others(720): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 357 | 0.0028 | 727 | c.*35 others(738): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3080 | chr5 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(720): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 226 | 0.0044 | 727 | c.*15 others(738): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322933 | T | TATAATAT others(720): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0085 | 1 | 160 | 0.0063 | 727 | c.389 others(748): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133669252 | C | CCCCTCAC others(720): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0173 | 1 | 256 | 0.0039 | 727 | c.249 others(746): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(720): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 230 | 0.0043 | 727 | c.115 others(744): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(720): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 132 | 0.0076 | 727 | c.-70 others(744): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(720): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0010 | 1 | 132 | 0.0076 | 727 | c.-70 others(744): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(720): Show |
intron_variant | MODIFIER | HG01934.hp2 HG03098.hp2 NA18522.hp2 |
a0001a0003 | a0001c0004a0003c0055 | a0001c0004t0006a0001c0004t0010a0003c0055t0010 | a0001c0004t0006g0054 a0001c0004t0010g0131 a0003c0055t0010g0115 |
3 | 4 | 0.7500 | 727 | c.227 others(746): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(720): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 727 | c.*12 others(738): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(720): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 82 | 0.0122 | 727 | c.12+ others(742): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(720): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 82 | 0.0122 | 727 | c.12+ others(742): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(720): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 82 | 0.0122 | 727 | c.12+ others(742): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(720): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02738.hp2 HG03490.hp1 others(4): Show |
a0001a0002 | a0001c0005a0002c0001 | a0001c0005t0001a0002c0001t0001 | a0001c0005t0001g0105 a0001c0005t0001g0324 a0002c0001t0001g0004 others(3): Show |
7 | 177 | 0.0395 | 727 | c.600 others(746): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(720): Show |
intron_variant | MODIFIER | NA18979.hp2 NA18998.hp2 NA19007.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0058 a0001c0002t0001g0069 a0001c0002t0001g0072 others(1): Show |
4 | 174 | 0.0230 | 727 | c.600 others(746): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186015 | C | CAATGCTT others(720): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 335 | 0.0030 | 727 | c.600 others(746): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
THNSL2_chr2_88165346_88191627 | 88181228 | C | CCTCTCTC others(720): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 21 | 0.0476 | 727 | c.803 others(744): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(720): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0084 | 1 | 10 | 0.1000 | 727 | c.-25 others(746): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(720): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0021 | 1 | 10 | 0.1000 | 727 | c.-25 others(746): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(720): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0343 a0001c0001t0003g0342 |
2 | 9 | 0.2222 | 727 | c.424 others(744): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TNS1_chr2_217794791_218007995 | 217805613 | A | ACCACACA others(720): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0048 | a0048c0072 | a0048c0072t0062 | a0048c0072t0062g0036 | 1 | 242 | 0.0041 | 727 | c.537 others(746): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | |||||||
TOX_chr8_58800412_59124147 | 59092264 | T | TATATATA others(720): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 214 | 0.0047 | 727 | c.102 others(746): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGTTAGG others(720): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 371 | 0.0027 | 727 | c.*47 others(738): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507129 | C | CATACGTA others(720): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0190 | 1 | 369 | 0.0027 | 727 | c.-23 others(744): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(720): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 98 | 0.0102 | 727 | c.41- others(744): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370987 | C | CACATATA others(720): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 285 | 0.0035 | 727 | c.-34 others(738): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3381 | chr10 | TogoVar | |||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(720): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 9 | 0.1111 | 727 | c.4-1 others(740): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(720): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 9 | 0.1111 | 727 | c.4-1 others(740): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1153362 | T | TGGCACAC others(721): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 323 | 0.0031 | 728 | c.61+ others(745): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1153664 | C | CGGGAGGG others(721): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0190 | 1 | 331 | 0.0030 | 728 | c.61+ others(745): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1464707 | C | CGCTGGAG others(721): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0067 | 1 | 78 | 0.0128 | 728 | c.101 others(747): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar |