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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCNN1D_chr1_1275436_1297025 | 1289357 | C | CCGTGTCT others(409): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0038 | 1 | 290 | 0.0035 | 416 | c.166 others(433): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289747 | C | CCCCGTGT others(409): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 290 | 0.0035 | 416 | c.166 others(433): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SDHA_chr5_213320_262082 | 261200 | A | ACAGCATT others(409): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 NA18990.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0014 | 2 | 266 | 0.0075 | 416 | c.*47 others(427): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4119 | chr5 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(409): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0005 | a0005c0003 | a0005c0003t0003 | a0005c0003t0003g0071 | 1 | 116 | 0.0086 | 416 | c.199 others(435): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(409): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0018 | a0018c0028 | a0018c0028t0049 | a0018c0028t0049g0035 | 1 | 116 | 0.0086 | 416 | c.199 others(435): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401552 | G | GCCCGCTC others(409): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 242 | 0.0041 | 416 | c.*43 others(427): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4163 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401552 | G | GCCCGCTC others(409): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 242 | 0.0041 | 416 | c.*43 others(427): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4163 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401552 | G | GCCCGCTC others(409): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 242 | 0.0041 | 416 | c.*43 others(427): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4163 | chr11 | TogoVar | ||||||
SLC25A21_chr14_36672921_37177606 | 36789846 | A | ATTTAATA others(409): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 164 | 0.0061 | 416 | c.203 others(435): Show |
SLC25A21 | ENSG00000183032.12 | transcript | ENST00000331299.6 | protein_coding | 3/9 | chr14 | TogoVar | ||||||
SLC27A5_chr19_58493333_58516992 | 58502500 | T | TAGAGTAG others(409): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 424 | 0.0024 | 416 | c.105 others(435): Show |
SLC27A5 | ENSG00000083807.10 | transcript | ENST00000263093.7 | protein_coding | 3/9 | chr19 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(409): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18747.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0264a0002c0002t0002g0267 | 2 | 346 | 0.0058 | 416 | c.-70 others(433): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560610 | G | GAGGCTCT others(409): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 180 | 0.0056 | 416 | c.637 others(435): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560987 | C | CATTCTTG others(409): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 180 | 0.0056 | 416 | c.637 others(435): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561611 | C | CATTCTTG others(409): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 180 | 0.0056 | 416 | c.637 others(435): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168562345 | C | CGGAGGAG others(409): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106a0001c0001t0003g0107 | 2 | 180 | 0.0111 | 416 | c.637 others(435): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562397 | T | TGGAGGAG others(409): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 180 | 0.0056 | 416 | c.637 others(435): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562418 | A | ACCCTGAG others(409): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 180 | 0.0056 | 416 | c.637 others(435): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562418 | A | ACCCTGAG others(409): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 180 | 0.0056 | 416 | c.637 others(435): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1056697 | G | GGCGCCAC others(409): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0018 | a0018c0023 | a0018c0023t0001 | a0018c0023t0001g0048 | 1 | 190 | 0.0053 | 416 | c.73- others(433): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1056697 | G | GGCGCCAC others(409): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0047 | 1 | 190 | 0.0053 | 416 | c.73- others(433): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1056697 | G | GGCGCCAC others(409): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0068 | 1 | 190 | 0.0053 | 416 | c.73- others(433): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(409): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0005 | a0005c0006 | a0005c0006t0010 | a0005c0006t0010g0172 | 1 | 251 | 0.0040 | 416 | c.*34 others(425): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(409): Show |
downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0200 | 1 | 251 | 0.0040 | 416 | c.*34 others(425): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(409): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0005 | a0005c0006 | a0005c0006t0010 | a0005c0006t0010g0173a0005c0006t0010g0174 | 2 | 251 | 0.0080 | 416 | c.*34 others(425): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(409): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0224 | 1 | 260 | 0.0039 | 416 | c.138 others(435): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27241748 | A | ATATATAT others(409): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028a0001c0001t0003g0029 | 2 | 374 | 0.0054 | 416 | c.-25 others(427): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 2537 | chr12 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27241748 | A | ATATATAT others(409): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 NA18989.hp1 NA19060.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0018others(4): Show | 7 | 374 | 0.0187 | 416 | c.-25 others(427): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 2537 | chr12 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27241748 | A | ATATATAT others(409): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 374 | 0.0027 | 416 | c.-25 others(427): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 2537 | chr12 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(409): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 NA18944.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024a0001c0002t0002g0038 | 2 | 268 | 0.0075 | 416 | c.*75 others(427): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(409): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01069.hp2 HG01978.hp1 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0027a0001c0002t0028 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0015others(14): Show | 17 | 268 | 0.0634 | 416 | c.*75 others(427): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(409): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 268 | 0.0037 | 416 | c.*75 others(427): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | ||||||
SUMF1_chr3_4356146_4472269 | 4456822 | G | GTATATAT others(409): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0104 | 1 | 392 | 0.0026 | 416 | c.271 others(433): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90884880 | T | TACACATA others(409): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0012 | a0001c0012t0022 | a0001c0012t0022g0353 | 1 | 376 | 0.0027 | 416 | c.158 others(435): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TBC1D1_chr4_37886084_38144173 | 37978749 | G | GCGGTTTC others(409): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00733.hp1 others(30): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0018others(19): Show | a0001c0001t0011a0001c0001t0016a0001c0005t0001others(24): Show | a0001c0001t0011g0120a0001c0001t0016g0247a0001c0005t0001g0043others(30): Show | 33 | 310 | 0.1065 | 416 | c.418 others(435): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 37978749 | G | GCGGTTTC others(409): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0021 | a0001c0021t0019 | a0001c0021t0019g0046a0001c0021t0019g0197 | 2 | 310 | 0.0065 | 416 | c.418 others(435): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
TBC1D1_chr4_37886084_38144173 | 37978749 | G | GCGGTTTC others(409): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02976.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0009 | a0001c0001t0002a0001c0005t0001a0003c0009t0007 | a0001c0001t0002g0142a0001c0005t0001g0021a0001c0005t0001g0044others(2): Show | 5 | 310 | 0.0161 | 416 | c.418 others(435): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82764853 | C | CTGTGTGC others(409): Show |
intron_variant | MODIFIER | NA18946.hp1 NA19063.hp1 |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0002a0006c0016t0001 | a0001c0001t0002g0271a0006c0016t0001g0257 | 2 | 318 | 0.0063 | 416 | c.333 others(431): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TMPRSS6_chr22_37060436_37114713 | 37097753 | C | CGGCCACC others(409): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG03195.hp1 |
a0001 | a0001c0020 | a0001c0020t0001a0001c0020t0009 | a0001c0020t0001g0010a0001c0020t0009g0009a0001c0020t0009g0079 | 3 | 348 | 0.0086 | 416 | c.336 others(431): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930756 | C | CAGGGGTT others(409): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 466 | 0.0022 | 416 | c.*48 others(427): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4613 | chr11 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGTTAGG others(409): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 466 | 0.0022 | 416 | c.*47 others(427): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | ||||||
TPCN2_chr11_69043932_69095597 | 69077371 | C | CTGCCCTC others(409): Show |
intron_variant | MODIFIER | NA18985.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 2 | 404 | 0.0050 | 416 | c.123 others(435): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TRAF6_chr11_36478769_36515272 | 36507507 | G | GTATTATA others(409): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0037a0001c0001t0003g0304a0001c0001t0003g0305others(8): Show | 17 | 388 | 0.0438 | 416 | c.-23 others(433): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(409): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19070.hp1 |
a0012a0030 | a0012c0020a0030c0165 | a0012c0020t0001a0030c0165t0002 | a0012c0020t0001g0021a0030c0165t0002g0022 | 2 | 242 | 0.0083 | 416 | c.106 others(435): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | ||||||
TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(409): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0135 | a0135c0061 | a0135c0061t0001 | a0135c0061t0001g0178 | 1 | 242 | 0.0041 | 416 | c.106 others(435): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | ||||||
TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(409): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19070.hp1 |
a0007a0020 | a0007c0008a0020c0031 | a0007c0008t0003a0020c0031t0003 | a0007c0008t0003g0060a0020c0031t0003g0059 | 2 | 370 | 0.0054 | 416 | c.103 others(437): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(409): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0029 | a0029c0027 | a0029c0027t0003 | a0029c0027t0003g0246 | 1 | 370 | 0.0027 | 416 | c.103 others(437): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870126 | A | ACACACCA others(409): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 338 | 0.0030 | 416 | c.*35 others(435): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(409): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19012.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0227a0001c0003t0003g0244 | 2 | 344 | 0.0058 | 416 | c.218 others(433): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UPF3A_chr13_114276601_114310817 | 114295372 | G | GTGCTCCC others(409): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 450 | 0.0022 | 416 | c.847 others(433): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
VCX3B_chrX_8459830_8471510 | 8467055 | A | AGGTGTGT others(409): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0017 | a0017c0017 | a0017c0017t0007 | a0017c0017t0007g0008 | 1 | 271 | 0.0037 | 416 | c.*67 others(425): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 546 | chrX | TogoVar |