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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(742): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0007 | a0001c0007t0078 | a0001c0007t0078g0132 | 1 | 270 | 0.0037 | 749 | c.162 others(770): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245281 | A | ATATATAT others(742): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 232 | 0.0043 | 749 | c.358 others(768): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(742): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0004 | a0004c0012 | a0004c0012t0004 | a0004c0012t0004g0307 | 1 | 372 | 0.0027 | 749 | c.180 others(768): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619312 | C | CTGCTCCC others(742): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 250 | 0.0040 | 749 | c.-10 others(768): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(742): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG01070.hp1 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002 | a0001c0001t0001g0098 a0001c0001t0002g0081 a0001c0001t0002g0090 others(9): Show |
12 | 198 | 0.0606 | 749 | c.105 others(768): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355671 | G | GGAGAAAG others(742): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0018 | a0018c0014 | a0018c0014t0001 | a0018c0014t0001g0072 | 1 | 82 | 0.0122 | 749 | c.757 others(764): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998959 | A | ATATATAT others(742): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 292 | 0.0034 | 749 | c.*50 others(760): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4314 | chr13 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322498 | A | AAAAAAAA others(742): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG02027.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0003 | a0001c0001t0002g0064 a0004c0006t0003g0015 |
2 | 155 | 0.0129 | 749 | c.-37 others(760): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3703 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(742): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 155 | 0.0065 | 749 | c.-37 others(760): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(742): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0063 |
2 | 155 | 0.0129 | 749 | c.-37 others(760): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(742): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0081 | 1 | 155 | 0.0065 | 749 | c.-37 others(760): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322517 | G | GAAAAGAA others(742): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 155 | 0.0065 | 749 | c.-37 others(760): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3722 | chrX | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858987 | G | GAGTGGTG others(742): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0011 | a0011c0039 | a0011c0039t0001 | a0011c0039t0001g0245 | 1 | 294 | 0.0034 | 749 | c.153 others(768): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858998 | A | ACGGGACG others(742): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 294 | 0.0034 | 749 | c.153 others(768): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858998 | A | ACGGGACG others(742): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0011 | 1 | 294 | 0.0034 | 749 | c.153 others(768): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858998 | A | ACGGGACG others(742): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 294 | 0.0034 | 749 | c.153 others(768): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858998 | A | ACGGGACG others(742): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02083.hp2 HG03831.hp1 |
a0001a0026 | a0001c0002a0001c0010a0026c0032 | a0001c0002t0001a0001c0010t0001a0026c0032t0001 | a0001c0002t0001g0026 a0001c0010t0001g0273 a0026c0032t0001g0015 |
3 | 294 | 0.0102 | 749 | c.153 others(768): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCCCT others(742): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 318 | 0.0031 | 749 | c.-49 others(760): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(742): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 278 | 0.0036 | 749 | c.115 others(766): 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(742): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0114 | 1 | 278 | 0.0036 | 749 | c.115 others(766): 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(742): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0013 | a0002c0013t0005 | a0002c0013t0005g0081 | 1 | 278 | 0.0036 | 749 | c.115 others(766): 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(742): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0093 | 1 | 278 | 0.0036 | 749 | c.115 others(766): 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(742): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0019 | 1 | 278 | 0.0036 | 749 | c.115 others(766): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(742): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 NA18962.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 3 | 394 | 0.0076 | 749 | c.-8+ others(762): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(742): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03834.hp1 NA18973.hp1 |
a0003 | a0003c0002a0003c0097a0003c0098 | a0003c0002t0001a0003c0097t0001a0003c0098t0001 | a0003c0002t0001g0128 a0003c0097t0001g0122 a0003c0098t0001g0172 |
3 | 249 | 0.0121 | 749 | c.148 others(768): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(742): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 HG02717.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0079 a0001c0001t0002g0098 |
4 | 376 | 0.0106 | 749 | c.*15 others(760): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291613 | G | GGGGGGAC others(742): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 | 1 | 354 | 0.0028 | 749 | c.-27 others(758): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 211 | chr19 | TogoVar | |||||||
PTTG1IP_chr21_44844598_44878690 | 44863310 | G | GACACAGC others(742): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0093 | 1 | 444 | 0.0023 | 749 | c.169 others(766): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(742): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0112 | 1 | 330 | 0.0030 | 749 | c.-50 others(760): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803280 | G | GCCGGGGG others(742): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 330 | 0.0030 | 749 | c.-49 others(760): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4667 | chr9 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(742): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 308 | 0.0033 | 749 | c.-75 others(768): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29010490 | G | GTCCCAGC others(742): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 a0001c0001t0005g0045 a0001c0001t0005g0210 others(3): Show |
12 | 438 | 0.0274 | 749 | c.68- others(764): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29010490 | G | GTCCCAGC others(742): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(136): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0003c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(9): Show | a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0037 others(86): Show |
139 | 438 | 0.3174 | 749 | c.68- others(764): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29010490 | G | GTCCCAGC others(742): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(81): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(4): Show | a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0016 others(45): Show |
84 | 438 | 0.1918 | 749 | c.68- others(764): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29010490 | G | GTCCCAGC others(742): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(76): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0003g0171 a0001c0001t0003g0203 a0001c0001t0004g0001 others(40): Show |
79 | 438 | 0.1804 | 749 | c.68- others(764): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29010490 | G | GTCCCAGC others(742): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03098.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0051 a0001c0001t0011g0249 |
3 | 438 | 0.0069 | 749 | c.68- others(764): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29010490 | G | GTCCCAGC others(742): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(37): Show |
64 | 438 | 0.1461 | 749 | c.68- others(764): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4264064 | G | GGGGAGGC others(742): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0005 | a0005c0057 | a0005c0057t0006 | a0005c0057t0006g0098 | 1 | 116 | 0.0086 | 749 | c.638 others(766): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637266 | A | AATATATA others(742): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0100 | 1 | 268 | 0.0037 | 749 | c.*71 others(760): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3732 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637266 | A | AATATATA others(742): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0098 a0001c0002t0002g0101 |
2 | 268 | 0.0075 | 749 | c.*71 others(760): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3732 | chr10 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628327 | A | ATGAGGCG others(742): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0183 | 1 | 352 | 0.0028 | 749 | c.299 others(764): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1629112 | A | AGGTGGGA others(742): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0099 | 1 | 352 | 0.0028 | 749 | c.299 others(766): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311591 | C | CTCACCTA others(742): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 344 | 0.0029 | 749 | c.327 others(766): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TNS1_chr2_217794791_218007995 | 217805592 | C | CCACCACA others(742): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02922.hp2 HG03139.hp1 others(4): Show |
a0006a0008a0050 | a0006c0012a0008c0062a0008c0082others(1): Show | a0006c0012t0016a0006c0012t0024a0008c0062t0016others(2): Show | a0006c0012t0016g0023 a0006c0012t0016g0163 a0006c0012t0024g0014 others(4): Show |
7 | 244 | 0.0287 | 749 | c.537 others(766): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | |||||||
TRIM54_chr2_27277429_27312435 | 27304386 | A | ACCAGCCT others(742): Show |
intron_variant | MODIFIER | HG01069.hp1 HG03669.hp2 NA18966.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0151 a0001c0001t0001g0153 others(1): Show |
4 | 276 | 0.0145 | 749 | c.514 others(764): Show |
TRIM54 | ENSG00000138100.14 | transcript | ENST00000380075.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRIM58_chr1_247852187_247885138 | 247870417 | G | GCCCAGAA others(742): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0138 | 1 | 454 | 0.0022 | 749 | c.871 others(766): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRIM58_chr1_247852187_247885138 | 247870568 | C | CCCAGAAG others(742): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0139 | 1 | 454 | 0.0022 | 749 | c.871 others(766): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TSNAXIP1_chr16_67801889_67833068 | 67809198 | G | GGTGGCTC others(742): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0048 | 1 | 256 | 0.0039 | 749 | c.47+ others(764): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(742): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 338 | 0.0030 | 749 | c.*35 others(768): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UCN_chr2_27302400_27313445 | 27304386 | A | ACCAGCCT others(742): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 NA18966.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 322 | 0.0093 | 749 | c.*31 others(760): Show |
UCN | ENSG00000163794.6 | transcript | ENST00000296099.2 | protein_coding | 3013 | chr2 | TogoVar |