| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(708): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0014 | a0001c0005t0014g0258 | 1 | 272 | 0.0037 | 715 | c.109 others(734): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CRTC3_chr15_90524923_90650345 | 90647358 | A | ACCCCTCC others(708): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 276 | 0.0036 | 715 | c.*52 others(726): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2014 | chr15 | TogoVar | ||||||
| DBNDD1_chr16_89999871_90024456 | 90003721 | G | GTGACTCC others(708): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 412 | 0.0024 | 715 | c.*26 others(726): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1149 | chr16 | TogoVar | ||||||
| DISP3_chr1_11474155_11542551 | 11522694 | G | GGCCCAGC others(708): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 358 | 0.0028 | 715 | c.236 others(734): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DISP3_chr1_11474155_11542551 | 11522694 | G | GGCCCAGC others(708): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 358 | 0.0028 | 715 | c.236 others(734): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DISP3_chr1_11474155_11542551 | 11522772 | A | ACCCAGCC others(708): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0197 | 1 | 358 | 0.0028 | 715 | c.236 others(734): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(708): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0122 | a0122c0198 | a0122c0198t0001 | a0122c0198t0001g0235 | 1 | 252 | 0.0040 | 715 | c.118 others(734): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(708): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0007 | a0007c0223 | a0007c0223t0001 | a0007c0223t0001g0121 | 1 | 252 | 0.0040 | 715 | c.118 others(734): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137355635 | A | AGGGAGGA others(708): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 82 | 0.0122 | 715 | c.757 others(730): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
| FAM184B_chr4_17624306_17786621 | 17764813 | T | TCAGCACT others(708): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03486.hp1 HG03486.hp2 others(1): Show |
a0001a0008a0019 | a0001c0008a0001c0021a0008c0039others(1): Show | a0001c0008t0018a0001c0021t0018a0008c0039t0015others(1): Show | a0001c0008t0018g0020a0001c0021t0018g0068a0008c0039t0015g0016others(1): Show | 4 | 238 | 0.0168 | 715 | c.141 others(734): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
| FAM184B_chr4_17624306_17786621 | 17764813 | T | TCAGCACT others(708): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 |
a0001a0013 | a0001c0017a0013c0058 | a0001c0017t0010a0013c0058t0022 | a0001c0017t0010g0175a0013c0058t0022g0174 | 2 | 238 | 0.0084 | 715 | c.141 others(734): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
| FERMT1_chr20_6069845_6128030 | 6125413 | C | CTGTCCTA others(708): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG02896.hp1 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0027a0001c0003t0010g0030 | 2 | 368 | 0.0054 | 715 | c.-26 others(726): Show |
FERMT1 | ENSG00000101311.17 | transcript | ENST00000217289.9 | protein_coding | 2384 | chr20 | TogoVar | ||||||
| FLT3_chr13_27998274_28105576 | 27998945 | T | TTATATGC others(708): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0026 | a0002c0026t0001 | a0002c0026t0001g0175 | 1 | 292 | 0.0034 | 715 | c.*51 others(726): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4328 | chr13 | TogoVar | ||||||
| FLT3_chr13_27998274_28105576 | 27998959 | A | ATATATAT others(708): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0005 | a0005c0018 | a0005c0018t0002 | a0005c0018t0002g0187 | 1 | 292 | 0.0034 | 715 | c.*50 others(726): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4314 | chr13 | TogoVar | ||||||
| FLT3_chr13_27998274_28105576 | 27999091 | G | GTATATAC others(708): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 292 | 0.0034 | 715 | c.*49 others(726): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | ||||||
| GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(708): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 715 | c.*31 others(726): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
| GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(708): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 715 | c.*31 others(726): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
| GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(708): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 NA18957.hp1 NA18989.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0038a0003c0003t0002g0186a0003c0003t0002g0247 | 3 | 268 | 0.0112 | 715 | c.-28 others(726): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | ||||||
| IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(708): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0005 | a0005c0013 | a0005c0013t0009 | a0005c0013t0009g0246 | 1 | 282 | 0.0036 | 715 | c.623 others(732): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(708): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0141 | 1 | 386 | 0.0026 | 715 | c.-46 others(726): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997264 | G | GCGGGGGA others(708): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 375 | 0.0027 | 715 | c.-22 others(726): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 406 | chr6 | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(708): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 715 | c.-27 others(726): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(708): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 715 | c.-27 others(726): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
| LHFPL3_chr7_104323603_104913561 | 104824186 | T | TATATATA others(708): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020 | 1 | 86 | 0.0116 | 715 | c.683 others(734): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124471482 | T | TTATATAT others(708): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 260 | 0.0039 | 715 | c.125 others(732): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 922519 | A | AGTTGCCT others(708): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01261.hp2 others(2): Show |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0001a0003c0009t0001g0002a0003c0009t0001g0003others(2): Show | 5 | 294 | 0.0170 | 715 | c.515 others(734): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 922519 | A | AGTTGCCT others(708): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02738.hp1 |
a0003 | a0003c0009a0003c0032 | a0003c0009t0001a0003c0032t0001 | a0003c0009t0001g0004a0003c0032t0001g0006 | 2 | 294 | 0.0068 | 715 | c.515 others(734): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(708): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0105 | 1 | 418 | 0.0024 | 715 | c.*23 others(726): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(708): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0005a0001c0001t0010g0035 | 2 | 418 | 0.0048 | 715 | c.*23 others(726): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(708): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0088 | 1 | 418 | 0.0024 | 715 | c.*23 others(726): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237544349 | T | TGGGGGGA others(708): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0152 | 1 | 286 | 0.0035 | 715 | c.153 others(734): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(708): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 256 | 0.0039 | 715 | c.241 others(734): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(708): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02572.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0084a0001c0001t0001g0166a0001c0001t0001g0167others(6): Show | 9 | 256 | 0.0352 | 715 | c.241 others(734): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(708): Show |
intron_variant | MODIFIER | HG02145.hp2 HG04204.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0193a0001c0003t0001g0014 | 2 | 256 | 0.0078 | 715 | c.241 others(734): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(708): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01516.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0165a0001c0001t0002g0172a0001c0002t0004g0161others(5): Show | 8 | 256 | 0.0313 | 715 | c.241 others(734): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(708): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 256 | 0.0039 | 715 | c.241 others(734): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(708): Show |
intron_variant | MODIFIER | HG01361.hp1 NA18989.hp2 NA19062.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0048a0002c0002t0001g0273a0002c0002t0005g0274 | 4 | 422 | 0.0095 | 715 | c.195 others(732): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
| NUDT4B_chr1_148743774_148757415 | 148745798 | C | CTCTCATA others(708): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 100 | 0.0100 | 715 | c.-31 others(726): Show |
NUDT4B | ENSG00000177144.8 | transcript | ENST00000322209.5 | protein_coding | 2975 | chr1 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 952763 | A | AGTCAGAC others(708): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 242 | 0.0041 | 715 | c.360 others(734): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| PHACTR3_chr20_59599540_59852711 | 59821980 | G | GATCCCAC others(708): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 250 | 0.0040 | 715 | c.132 others(736): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(708): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18612.hp2 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0001 | a0001c0001t0001g0152a0002c0009t0001g0040 | 2 | 282 | 0.0071 | 715 | c.299 others(730): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
| PLCB1_chr20_8127266_8889900 | 8662114 | T | TATATATA others(708): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0044 | 1 | 106 | 0.0094 | 715 | c.862 others(732): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | chr20 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1706550 | A | ACCTGCCC others(708): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG02572.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0011t0004others(1): Show | a0001c0001t0001g0162a0001c0002t0003g0024a0001c0011t0004g0043others(1): Show | 4 | 322 | 0.0124 | 715 | c.201 others(734): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(708): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 350 | 0.0029 | 715 | c.624 others(730): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(708): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG03491.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 5 | 352 | 0.0142 | 715 | c.*12 others(726): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | ||||||
| TGM2_chr20_38122385_38170270 | 38124008 | A | ATATATAT others(708): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0196 | 1 | 360 | 0.0028 | 715 | c.*62 others(726): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3376 | chr20 | TogoVar | ||||||
| THADA_chr2_43225851_43601038 | 43298032 | C | CCCCGGCC others(708): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0068 | 1 | 206 | 0.0049 | 715 | c.443 others(734): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 31/37 | chr2 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377502 | C | CCCCACCC others(708): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 370 | 0.0027 | 715 | c.-15 others(726): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1477 | chr19 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2377642 | T | TCCCCTCC others(708): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0014 | a0003c0014t0003 | a0003c0014t0003g0043 | 1 | 114 | 0.0088 | 715 | c.-25 others(734): 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(708): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 384 | 0.0026 | 715 | c.424 others(732): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |