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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8061): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 43 | 0.0233 | 8068 | c.431 others(8087): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8061): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 43 | 0.0233 | 8068 | c.431 others(8087): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8061): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0003 | 1 | 43 | 0.0233 | 8068 | c.431 others(8087): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8062): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0078 | 1 | 43 | 0.0233 | 8069 | c.431 others(8088): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8062): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 43 | 0.0233 | 8069 | c.431 others(8088): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8062): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 HG03492.hp2 |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0009a0002c0004t0001a0003c0003t0001 | a0001c0001t0009g0057 a0002c0004t0001g0060 a0003c0003t0001g0099 |
3 | 45 | 0.0667 | 8069 | c.431 others(8088): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8062): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 43 | 0.0233 | 8069 | c.431 others(8088): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8062): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02895.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0010a0001c0015a0001c0018 | a0001c0010t0003a0001c0015t0001a0001c0018t0006 | a0001c0010t0003g0021 a0001c0010t0003g0065 a0001c0015t0001g0064 others(1): Show |
4 | 46 | 0.0870 | 8069 | c.431 others(8088): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8062): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 43 | 0.0233 | 8069 | c.431 others(8088): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8062): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03453.hp1 NA19043.hp1 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0003a0001c0005t0012a0002c0002t0001 | a0001c0005t0003g0020 a0001c0005t0012g0101 a0002c0002t0001g0126 |
3 | 45 | 0.0667 | 8069 | c.431 others(8088): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8063): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 43 | 0.0233 | 8070 | c.431 others(8089): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8063): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0116 | 1 | 43 | 0.0233 | 8070 | c.431 others(8089): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8063): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01255.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0019others(1): Show | a0001c0001t0002a0001c0005t0003a0001c0019t0003others(2): Show | a0001c0001t0002g0001 a0001c0005t0003g0017 a0001c0019t0003g0002 others(2): Show |
5 | 47 | 0.1064 | 8070 | c.431 others(8089): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8063): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18522.hp1 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0003a0004c0009t0006 | a0001c0001t0003g0029 a0004c0009t0006g0151 |
2 | 44 | 0.0455 | 8070 | c.431 others(8089): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8064): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0160 | 1 | 43 | 0.0233 | 8071 | c.431 others(8090): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8064): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02572.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0006a0003c0007t0002 | a0001c0001t0006g0033 a0003c0007t0002g0129 |
2 | 44 | 0.0455 | 8071 | c.431 others(8090): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8064): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0041 | 1 | 43 | 0.0233 | 8071 | c.431 others(8090): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8073): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0079 | 1 | 43 | 0.0233 | 8080 | c.431 others(8099): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8073): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02451.hp1 HG03041.hp1 others(2): Show |
a0001a0003a0006 | a0001c0001a0001c0006a0003c0007others(1): Show | a0001c0001t0006a0001c0006t0002a0003c0007t0003others(1): Show | a0001c0001t0006g0012 a0001c0006t0002g0040 a0003c0007t0003g0042 others(2): Show |
5 | 47 | 0.1064 | 8080 | c.431 others(8099): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8073): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 HG02965.hp2 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0004a0003c0007others(1): Show | a0001c0005t0003a0002c0004t0006a0003c0007t0001others(1): Show | a0001c0005t0003g0067 a0002c0004t0006g0039 a0003c0007t0001g0014 others(1): Show |
4 | 46 | 0.0870 | 8080 | c.431 others(8099): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8074): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 43 | 0.0233 | 8081 | c.431 others(8100): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8074): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0004 | a0002c0004t0013 | a0002c0004t0013g0077 | 1 | 43 | 0.0233 | 8081 | c.431 others(8100): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(8075): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0090 | 1 | 2 | 0.5000 | 8082 | c.126 others(8099): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 72880950 | G | GGATTACA others(8075): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 43 | 0.0233 | 8082 | c.431 others(8101): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
GFOD2_chr16_67669536_67724316 | 67712970 | G | GCCGCAGC others(8077): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0102 | 1 | 97 | 0.0103 | 8084 | c.-88 others(8101): Show |
GFOD2 | ENSG00000141098.13 | transcript | ENST00000268797.12 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
GFOD2_chr16_67669536_67724316 | 67712970 | G | GCCGCAGC others(8078): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0101 | 1 | 97 | 0.0103 | 8085 | c.-88 others(8102): Show |
GFOD2 | ENSG00000141098.13 | transcript | ENST00000268797.12 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
ARHGEF18_chr19_7343937_7477478 | 7450664 | A | ATTTCCGA others(8082): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0105 | 1 | 84 | 0.0119 | 8089 | c.173 others(8106): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7450664 | A | ATTTCCGA others(8082): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0101 | 1 | 84 | 0.0119 | 8089 | c.173 others(8106): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24200740 | A | ACTCATCC others(8097): Show |
intron_variant | MODIFIER | NA20129.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0017 | a0001c0001t0028a0002c0017t0027 | a0001c0001t0028g0048 a0002c0017t0027g0081 |
2 | 146 | 0.0137 | 8104 | c.186 others(8123): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SMARCC1_chr3_47580269_47786893 | 47784344 | A | AGATCATG others(8097): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 2 | 0.5000 | 8104 | c.-25 others(8115): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2452 | chr3 | TogoVar | |||||||
USP4_chr3_49272144_49345053 | 49331320 | A | AAAAAAAA others(8097): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0210 | 1 | 224 | 0.0045 | 8104 | c.230 others(8121): Show |
USP4 | ENSG00000114316.13 | transcript | ENST00000265560.9 | protein_coding | 2/21 | chr3 | TogoVar | |||||||
ARHGEF18_chr19_7343937_7477478 | 7450664 | A | ATTTCCGA others(8099): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0048 | a0001c0048t0001 | a0001c0048t0001g0266 | 1 | 84 | 0.0119 | 8106 | c.173 others(8123): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(8099): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp2 NA19240.hp2 |
a0003 | a0003c0046 | a0003c0046t0001 | a0003c0046t0001g0104 a0003c0046t0001g0105 |
2 | 3 | 0.6667 | 8106 | c.481 others(8115): Show |
p.Ser others(8121): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | |||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACATGACC others(8101): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0032 | 1 | 277 | 0.0036 | 8108 | c.*40 others(8125): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(8102): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 172 | 0.0058 | 8109 | c.157 others(8126): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(8102): Show |
conservative_inframe_insertion | MODERATE | NA21309.hp2 | a0003 | a0003c0146 | a0003c0146t0001 | a0003c0146t0001g0191 | 1 | 2 | 0.5000 | 8109 | c.481 others(8118): Show |
p.Ser others(8124): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | |||
SMARCC1_chr3_47580269_47786893 | 47784344 | A | AGATCATG others(8106): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0117 | 1 | 2 | 0.5000 | 8113 | c.-25 others(8124): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2452 | chr3 | TogoVar | |||||||
PRAMEF17_chr1_13384632_13397629 | 13393506 | T | TAGTTCTC others(8110): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 425 | 0.0024 | 8117 | c.*10 others(8128): Show |
PRAMEF17 | ENSG00000204479.4 | transcript | ENST00000376098.4 | protein_coding | 878 | chr1 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135084659 | A | AGGAAATA others(8110): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0035 | 1 | 278 | 0.0036 | 8117 | c.151 others(8134): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRAMEF17_chr1_13384632_13397629 | 13393506 | T | TAGTTCTC others(8112): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 425 | 0.0024 | 8119 | c.*10 others(8130): Show |
PRAMEF17 | ENSG00000204479.4 | transcript | ENST00000376098.4 | protein_coding | 878 | chr1 | TogoVar | |||||||
PRAMEF17_chr1_13384632_13397629 | 13393506 | T | TAGTTCTC others(8112): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 425 | 0.0024 | 8119 | c.*10 others(8130): Show |
PRAMEF17 | ENSG00000204479.4 | transcript | ENST00000376098.4 | protein_coding | 878 | chr1 | TogoVar | |||||||
PRAMEF17_chr1_13384632_13397629 | 13393506 | T | TAGTTCTC others(8113): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 425 | 0.0024 | 8120 | c.*10 others(8131): Show |
PRAMEF17 | ENSG00000204479.4 | transcript | ENST00000376098.4 | protein_coding | 878 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(8114): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 173 | 0.0058 | 8121 | c.127 others(8138): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(8114): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 173 | 0.0058 | 8121 | c.127 others(8138): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMARCC1_chr3_47580269_47786893 | 47784344 | A | AGATCATG others(8121): Show |
upstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 2 | 0.5000 | 8128 | c.-25 others(8139): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2452 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47784344 | A | AGATCATG others(8122): Show |
upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 2 | 0.5000 | 8129 | c.-25 others(8140): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2452 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47784344 | A | AGATCATG others(8123): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 2 | 0.5000 | 8130 | c.-25 others(8141): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2452 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47784344 | A | AGATCATG others(8123): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 2 | 0.5000 | 8130 | c.-25 others(8141): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2452 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47784344 | A | AGATCATG others(8124): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 2 | 0.5000 | 8131 | c.-25 others(8142): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2452 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47784344 | A | AGATCATG others(8124): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01123.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0052 a0001c0001t0001g0193 a0001c0001t0001g0206 others(2): Show |
5 | 6 | 0.8333 | 8131 | c.-25 others(8142): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2452 | chr3 | TogoVar |