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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(532): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0001 | a0002c0001t0016 | a0002c0001t0016g0205 | 1 | 228 | 0.0044 | 539 | c.259 others(560): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129578173 | C | CCTATATG others(532): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0011 | 1 | 226 | 0.0044 | 539 | c.137 others(560): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(532): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 236 | 0.0042 | 539 | c.409 others(558): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 376503 | G | GTGAGAAC others(532): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0021 | 1 | 268 | 0.0037 | 539 | c.245 others(552): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 376503 | G | GTGAGAAC others(532): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0256a0002c0002t0001g0255 | 2 | 268 | 0.0075 | 539 | c.245 others(552): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 376503 | G | GTGAGAAC others(532): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0170 | 1 | 268 | 0.0037 | 539 | c.245 others(552): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANXA2_chr15_60342151_60402986 | 60350047 | G | GAGGGGAA others(532): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 334 | 0.0030 | 539 | c.838 others(554): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1432859 | C | CGGCCGAG others(532): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0003 | 1 | 185 | 0.0054 | 539 | c.401 others(554): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 279071 | G | GGAGGGAG others(532): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0033 | 1 | 410 | 0.0024 | 539 | c.465 others(554): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
CCDC198_chr14_57464300_57498857 | 57498800 | G | GTATATGG others(532): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 362 | 0.0028 | 539 | c.-50 others(550): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 4944 | chr14 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 628799 | C | CTTTTGGA others(532): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19065.hp1 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0002 | 2 | 91 | 0.0220 | 539 | c.512 others(556): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357713 | G | GTGAGGGG others(532): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0131 | 1 | 236 | 0.0042 | 539 | c.351 others(558): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(532): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG01952.hp1 others(2): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0024a0001c0006t0004a0001c0006t0013 | a0001c0002t0024g0172a0001c0002t0024g0181a0001c0006t0004g0182others(2): Show | 5 | 270 | 0.0185 | 539 | c.162 others(560): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL17A1_chr10_104026286_104090880 | 104036113 | T | TATATGTG others(532): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0028 | a0028c0045 | a0028c0045t0001 | a0028c0045t0001g0029 | 1 | 336 | 0.0030 | 539 | c.341 others(556): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 48/55 | chr10 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104036113 | T | TATATGTG others(532): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03516.hp1 |
a0010 | a0010c0021 | a0010c0021t0001 | a0010c0021t0001g0251a0010c0021t0001g0252 | 2 | 336 | 0.0060 | 539 | c.341 others(556): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 48/55 | chr10 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(532): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18964.hp1 NA18974.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0002t0015a0001c0008t0029 | a0001c0002t0002g0023a0001c0002t0015g0024a0001c0008t0029g0022 | 3 | 182 | 0.0165 | 539 | c.267 others(556): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(532): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0083 | a0002c0083t0001 | a0002c0083t0001g0173 | 1 | 344 | 0.0029 | 539 | c.85- others(556): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(532): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0073 | 1 | 230 | 0.0044 | 539 | c.724 others(558): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251015 | T | TCCCCCAC others(532): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0023 | 1 | 116 | 0.0086 | 539 | c.207 others(558): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCCC others(532): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 320 | 0.0031 | 539 | c.*39 others(550): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 322565 | C | CTCCGGCG others(532): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0019 | 1 | 88 | 0.0114 | 539 | c.392 others(558): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522629 | G | GCCCAGCC others(532): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19074.hp2 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0035a0004c0004t0006g0037 | 2 | 358 | 0.0056 | 539 | c.236 others(558): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAI7_chr12_25103289_25200160 | 25174595 | T | TATATATA others(532): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 336 | 0.0030 | 539 | c.22- others(556): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 139087 | C | CCCCCACA others(532): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0031 | 1 | 339 | 0.0030 | 539 | c.*83 others(550): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 3701 | chr17 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129920273 | G | GAGTATCT others(532): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0182 | 1 | 338 | 0.0030 | 539 | c.554 others(558): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716248 | G | GTGTCATG others(532): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0158 | 1 | 170 | 0.0059 | 539 | c.86- others(552): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ELAPOR2_chr7_86871906_87064654 | 87015904 | T | TTGTCAGT others(532): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 196 | 0.0051 | 539 | c.189 others(558): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
GNG4_chr1_235542685_235654784 | 235587634 | A | ATGTGTGT others(532): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 330 | 0.0030 | 539 | c.-10 others(556): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2548768 | G | GCAGAGTG others(532): Show |
intron_variant | MODIFIER | HG02258.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0074 | a0001c0001t0063g0157a0001c0001t0074g0019 | 2 | 206 | 0.0097 | 539 | c.-38 others(556): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143211308 | A | AGGGAGGC others(532): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 539 | c.-19 others(550): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1909 | chr8 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46631422 | A | AGCCTGTG others(532): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0189a0001c0001t0015g0190 | 2 | 328 | 0.0061 | 539 | c.162 others(556): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(532): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039a0001c0001t0003g0049 | 2 | 282 | 0.0071 | 539 | c.290 others(558): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
INPP5D_chr2_233055342_233212903 | 233144537 | A | AGGTGGTG others(532): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 310 | 0.0032 | 539 | c.754 others(556): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(532): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 252 | 0.0040 | 539 | c.10- others(556): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(532): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0122 | 1 | 282 | 0.0036 | 539 | c.258 others(556): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KANK1_chr9_499695_751103 | 514222 | T | TCCTCTCT others(532): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 254 | 0.0039 | 539 | c.-84 others(556): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(532): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01981.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188a0002c0002t0001g0192 | 2 | 312 | 0.0064 | 539 | c.-41 others(554): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(532): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 312 | 0.0032 | 539 | c.-41 others(554): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(532): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193a0001c0001t0001g0194 | 2 | 312 | 0.0064 | 539 | c.-41 others(554): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(532): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170a0001c0001t0001g0171 | 2 | 312 | 0.0064 | 539 | c.-41 others(554): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 168035444 | A | AGGCGGGG others(532): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0324 | 1 | 375 | 0.0027 | 539 | c.317 others(556): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LMF1_chr16_848634_975984 | 857705 | G | GAGTGGTG others(532): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 |
a0001a0003 | a0001c0010a0003c0009 | a0001c0010t0001a0003c0009t0001 | a0001c0010t0001g0272a0003c0009t0001g0005 | 2 | 294 | 0.0068 | 539 | c.153 others(558): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184511 | C | CCAACCCA others(532): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01109.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0127a0001c0004t0003g0128 | 2 | 358 | 0.0056 | 539 | c.*65 others(550): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3934 | chr21 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184511 | C | CCAACCCA others(532): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01070.hp2 HG01071.hp2 others(18): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0003a0001c0004t0026a0003c0003t0018 | a0001c0004t0003g0003a0001c0004t0003g0007a0001c0004t0003g0026others(13): Show | 21 | 358 | 0.0587 | 539 | c.*65 others(550): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3934 | chr21 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184511 | C | CCAACCCA others(532): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0137 | 1 | 358 | 0.0028 | 539 | c.*65 others(550): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3934 | chr21 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19477857 | G | GGGGAGGG others(532): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0127 | 1 | 163 | 0.0061 | 539 | c.525 others(556): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478032 | G | GAGGGGGG others(532): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0003 | a0002c0003t0019 | a0002c0003t0019g0152 | 1 | 163 | 0.0061 | 539 | c.525 others(556): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MBTPS1_chr16_84048763_84121942 | 84052019 | C | CATGTGGG others(532): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 424 | 0.0024 | 539 | c.*24 others(550): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 1743 | chr16 | TogoVar | ||||||
METRNL_chr17_83074609_83100122 | 83090371 | A | ACACACAC others(532): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 399 | 0.0025 | 539 | c.557 others(556): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189595 | A | ATATATAT others(532): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012 | 1 | 330 | 0.0030 | 539 | c.-5+ others(554): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar |