regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(852): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19077.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0046 | 2 | 394 | 0.0051 | 859 | c.135 others(876): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(852): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0091a0001c0001t0001g0117a0001c0001t0001g0118others(34): Show | 59 | 394 | 0.1498 | 859 | c.135 others(876): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(852): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0177 | 1 | 394 | 0.0025 | 859 | c.135 others(876): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 3977201 | C | CCACGCAG others(852): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0080 | a0005c0080t0014 | a0005c0080t0014g0078 | 1 | 116 | 0.0086 | 859 | c.199 others(878): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(852): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0011 | a0002c0011t0005 | a0002c0011t0005g0065 | 1 | 132 | 0.0076 | 859 | c.227 others(878): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
TM4SF1_chr3_149364022_149382649 | 149380622 | G | GCCAGCCG others(852): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 434 | 0.0023 | 859 | c.-30 others(870): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 2974 | chr3 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530484 | A | ATAATATA others(852): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0137 | 1 | 238 | 0.0042 | 859 | c.392 others(876): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(852): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0213 | 1 | 238 | 0.0042 | 859 | c.392 others(876): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(852): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0002g0088 | 2 | 202 | 0.0099 | 859 | c.*53 others(870): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(852): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 246 | 0.0041 | 859 | c.-10 others(876): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975373 | A | AAATATTT others(853): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0134 | 1 | 306 | 0.0033 | 860 | c.130 others(879): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(853): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0164 | 1 | 169 | 0.0059 | 860 | c.48- others(877): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGAP39_chr8_144524179_144690846 | 144531192 | G | GAGCAGCA others(853): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18962.hp1 |
a0001a0004 | a0001c0003a0004c0009 | a0001c0003t0009a0004c0009t0001 | a0001c0003t0009g0004a0004c0009t0001g0008 | 2 | 246 | 0.0081 | 860 | c.298 others(877): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(853): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 336 | 0.0030 | 860 | c.94+ others(875): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(853): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01074.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0029others(14): Show | 22 | 336 | 0.0655 | 860 | c.94+ others(875): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(853): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0209 | 1 | 336 | 0.0030 | 860 | c.94+ others(875): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25757956 | C | CCACCTGC others(853): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0046 | a0046c0035 | a0046c0035t0005 | a0046c0035t0005g0216 | 1 | 300 | 0.0033 | 860 | c.655 others(879): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(853): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 300 | 0.0033 | 860 | c.-70 others(869): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531192 | G | GAGCAGCA others(853): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01934.hp2 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0011 | 4 | 398 | 0.0101 | 860 | c.-22 others(871): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2082 | chr8 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGGCCC others(853): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0261 | 1 | 398 | 0.0025 | 860 | c.666 others(875): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882384 | G | GGGGAGAA others(853): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0012 | 1 | 288 | 0.0035 | 860 | c.303 others(879): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(853): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0082 | 1 | 344 | 0.0029 | 860 | c.373 others(877): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGTGG others(853): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0130 | 1 | 168 | 0.0060 | 860 | c.-26 others(869): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(853): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0060 | 1 | 428 | 0.0023 | 860 | c.217 others(875): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(853): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0108 | a0001c0002t0108g0249 | 1 | 270 | 0.0037 | 860 | c.162 others(881): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(853): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 | 1 | 272 | 0.0037 | 860 | c.109 others(879): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(853): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 448 | 0.0022 | 860 | c.51+ others(875): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287216 | T | TACTATGT others(853): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 448 | 0.0022 | 860 | c.51+ others(875): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(853): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0087 | 1 | 240 | 0.0042 | 860 | c.*31 others(871): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(853): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0214 | 1 | 216 | 0.0046 | 860 | c.923 others(879): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(853): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0191 | 1 | 374 | 0.0027 | 860 | c.772 others(875): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(853): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0190 | 1 | 374 | 0.0027 | 860 | c.772 others(875): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828105 | G | GTCCTCAC others(853): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0375 | 1 | 412 | 0.0024 | 860 | c.146 others(877): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(853): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 860 | c.*31 others(871): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(853): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 NA19012.hp1 NA19059.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0006 | 3 | 397 | 0.0076 | 860 | c.*50 others(871): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 186136 | G | GGAGGAAC others(853): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 860 | c.*50 others(871): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4958 | chr16 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925812 | A | ATGGATGG others(853): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0356a0001c0001t0002g0357 | 2 | 376 | 0.0053 | 860 | c.666 others(877): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322329 | T | TGGAATAT others(853): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 1 | 323 | 0.0031 | 860 | c.-27 others(871): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2640 | chr21 | TogoVar | ||||||
KDSR_chr18_63322726_63372206 | 63361017 | A | ATATATAT others(853): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0277 | 1 | 406 | 0.0025 | 860 | c.199 others(877): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997432 | G | GGGGGCGG others(853): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0340 | 1 | 375 | 0.0027 | 860 | c.-20 others(871): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 238 | chr6 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(853): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0277 | 1 | 284 | 0.0035 | 860 | c.126 others(877): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(853): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 260 | 0.0039 | 860 | c.624 others(877): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(853): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 860 | c.-30 others(871): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531192 | G | GAGCAGCA others(853): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01934.hp2 HG01993.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 3 | 398 | 0.0075 | 860 | c.-42 others(871): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4160 | chr8 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(853): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0207 | 1 | 280 | 0.0036 | 860 | c.641 others(875): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(853): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0287 | 1 | 330 | 0.0030 | 860 | c.-5+ others(875): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(853): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0077 | a0077c0169 | a0077c0169t0013 | a0077c0169t0013g0184 | 1 | 249 | 0.0040 | 860 | c.148 others(879): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGGGG others(853): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0036 | 1 | 324 | 0.0031 | 860 | c.140 others(877): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739516 | C | CGGGGGGG others(853): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0181 | 1 | 378 | 0.0027 | 860 | c.-14 others(877): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739517 | G | GGGGGGGC others(853): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0284 | 1 | 378 | 0.0027 | 860 | c.-14 others(877): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |