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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AS3MT_chr10_102864470_102906899 | 102870155 | G | C | synonymous_variant | LOW | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0036 | 1 | 362 | 0.0028 | 0 | c.114 others(3): Show |
p.Pro others(5): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/11 | 237/2450 | 114/1128 | 38/375 | chr10 | TogoVar | ||
AS3MT_chr10_102864470_102906899 | 102876968 | A | G | synonymous_variant | LOW | HG02040.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0212 | 1 | 362 | 0.0028 | 0 | c.543 others(3): Show |
p.Leu others(6): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 7/11 | 666/2450 | 543/1128 | 181/375 | chr10 | TogoVar | ||
AS3MT_chr10_102864470_102906899 | 102878446 | C | T | synonymous_variant | LOW | HG03492.hp2 | a0001 | a0001c0009 | a0001c0009t0013 | a0001c0009t0013g0262 | 1 | 362 | 0.0028 | 0 | c.678 others(3): Show |
p.Cys others(6): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 8/11 | 801/2450 | 678/1128 | 226/375 | chr10 | TogoVar | ||
AS3MT_chr10_102864470_102906899 | 102890603 | T | C | synonymous_variant | LOW | HG02818.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0020 | 1 | 362 | 0.0028 | 0 | c.945 others(3): Show |
p.Phe others(6): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 10/11 | 1068/2450 | 945/1128 | 315/375 | chr10 | TogoVar | ||
ASAH1_chr8_18050992_18089107 | 18061723 | T | C | synonymous_variant | LOW | HG02257.hp2 | a0001 | a0001c0007 | a0001c0007t0023 | a0001c0007t0023g0279 | 1 | 420 | 0.0024 | 0 | c.666 others(3): Show |
p.Thr others(6): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 9/14 | 715/2779 | 666/1188 | 222/395 | chr8 | TogoVar | ||
ASAH1_chr8_18050992_18089107 | 18067221 | T | C | splice_region_variant others(1): Show |
LOW | HG02683.hp1 | a0001 | a0001c0008 | a0001c0008t0006 | a0001c0008t0006g0218 | 1 | 420 | 0.0024 | 0 | c.381 others(3): Show |
p.Leu others(6): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/14 | 430/2779 | 381/1188 | 127/395 | chr8 | TogoVar | ||
ASAH1_chr8_18050992_18089107 | 18069834 | G | A | synonymous_variant | LOW | NA19055.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0094 | 1 | 420 | 0.0024 | 0 | c.261 others(3): Show |
p.Phe others(5): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 4/14 | 310/2779 | 261/1188 | 87/395 | chr8 | TogoVar | ||
ASAH2_chr10_50179861_50256516 | 50192704 | A | C | synonymous_variant | LOW | HG01256.hp1 | a0002 | a0002c0022 | a0002c0022t0040 | a0002c0022t0040g0132 | 1 | 408 | 0.0025 | 0 | c.201 others(4): Show |
p.Val others(6): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 19/21 | 2171/4955 | 2013/2343 | 671/780 | chr10 | TogoVar | ||
ASAH2_chr10_50179861_50256516 | 50199108 | C | T | synonymous_variant | LOW | HG02976.hp2 HG03225.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0010a0001c0015 | a0001c0010t0069a0001c0010t0087a0001c0010t0102others(1): Show | a0001c0010t0069g0200a0001c0010t0087g0050a0001c0010t0102g0362others(1): Show | 4 | 408 | 0.0098 | 0 | c.180 others(4): Show |
p.Pro others(6): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 17/21 | 1958/4955 | 1800/2343 | 600/780 | chr10 | TogoVar | ||
ASAH2_chr10_50179861_50256516 | 50202868 | G | A | synonymous_variant | LOW | HG02976.hp2 HG03225.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0010a0001c0015 | a0001c0010t0069a0001c0010t0087a0001c0010t0102others(1): Show | a0001c0010t0069g0200a0001c0010t0087g0050a0001c0010t0102g0362others(1): Show | 4 | 408 | 0.0098 | 0 | c.172 others(4): Show |
p.Asn others(6): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 16/21 | 1880/4955 | 1722/2343 | 574/780 | chr10 | TogoVar | ||
ASAH2_chr10_50179861_50256516 | 50205988 | G | A | synonymous_variant | LOW | HG02486.hp1 | a0002 | a0002c0024 | a0002c0024t0041 | a0002c0024t0041g0314 | 1 | 408 | 0.0025 | 0 | c.152 others(4): Show |
p.Thr others(6): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 13/21 | 1682/4955 | 1524/2343 | 508/780 | chr10 | TogoVar | ||
ASAH2_chr10_50179861_50256516 | 50210866 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0007a0001c0011others(11): Show | a0001c0004t0006a0001c0004t0012a0001c0004t0013others(87): Show | a0001c0004t0006g0018a0001c0004t0006g0282a0001c0004t0006g0292others(244): Show | 273 | 408 | 0.6691 | 0 | c.137 others(4): Show |
p.Ala others(6): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 12/21 | 1529/4955 | 1371/2343 | 457/780 | chr10 | TogoVar | ||
ASAH2_chr10_50179861_50256516 | 50235909 | G | A | synonymous_variant | LOW | NA19010.hp2 | a0007 | a0007c0017 | a0007c0017t0003 | a0007c0017t0003g0106 | 1 | 408 | 0.0025 | 0 | c.666 others(3): Show |
p.His others(6): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 5/21 | 824/4955 | 666/2343 | 222/780 | chr10 | TogoVar | ||
ASAH2_chr10_50179861_50256516 | 50235999 | G | A | synonymous_variant | LOW | HG01884.hp2 | a0001 | a0001c0018 | a0001c0018t0009 | a0001c0018t0009g0353 | 1 | 408 | 0.0025 | 0 | c.576 others(3): Show |
p.Gly others(6): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 5/21 | 734/4955 | 576/2343 | 192/780 | chr10 | TogoVar | ||
ASAH2_chr10_50179861_50256516 | 50243220 | T | G | synonymous_variant | LOW | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(139): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0018others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(65): Show | a0001c0002t0001g0012a0001c0002t0001g0083a0001c0002t0001g0095others(119): Show | 142 | 408 | 0.3480 | 0 | c.492 others(3): Show |
p.Ser others(6): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4/21 | 650/4955 | 492/2343 | 164/780 | chr10 | TogoVar | ||
ASAH2_chr10_50179861_50256516 | 50245393 | A | G | synonymous_variant | LOW | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(148): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0007others(10): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(69): Show | a0001c0002t0001g0012a0001c0002t0001g0083a0001c0002t0001g0095others(128): Show | 151 | 408 | 0.3701 | 0 | c.189 others(3): Show |
p.Ala others(5): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 3/21 | 347/4955 | 189/2343 | 63/780 | chr10 | TogoVar | ||
ASAP1_chr8_130047104_130448674 | 130112098 | C | T | synonymous_variant | LOW | HG03139.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0232 | 1 | 308 | 0.0033 | 0 | c.239 others(4): Show |
p.Gly others(6): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/30 | 2639/6259 | 2397/3390 | 799/1129 | chr8 | TogoVar | ||
ASAP1_chr8_130047104_130448674 | 130112218 | T | G | synonymous_variant | LOW | HG00597.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0074 | 1 | 308 | 0.0033 | 0 | c.227 others(4): Show |
p.Pro others(6): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/30 | 2519/6259 | 2277/3390 | 759/1129 | chr8 | TogoVar | ||
ASAP1_chr8_130047104_130448674 | 130115703 | T | G | synonymous_variant | LOW | HG03453.hp2 NA19240.hp1 |
a0001 | a0001c0007 | a0001c0007t0001a0001c0007t0007 | a0001c0007t0001g0037a0001c0007t0007g0001 | 2 | 308 | 0.0065 | 0 | c.209 others(4): Show |
p.Pro others(6): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 23/30 | 2339/6259 | 2097/3390 | 699/1129 | chr8 | TogoVar | ||
ASAP1_chr8_130047104_130448674 | 130116920 | A | G | synonymous_variant | LOW | HG01074.hp2 HG02055.hp2 NA21309.hp2 |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0288a0001c0006t0005g0292a0001c0006t0005g0293 | 3 | 308 | 0.0097 | 0 | c.195 others(4): Show |
p.Cys others(6): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 21/30 | 2198/6259 | 1956/3390 | 652/1129 | chr8 | TogoVar | ||
ASAP1_chr8_130047104_130448674 | 130127934 | G | A | synonymous_variant | LOW | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0019a0002c0003t0001g0022a0002c0003t0001g0023others(8): Show | 11 | 308 | 0.0357 | 0 | c.137 others(4): Show |
p.Gly others(6): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 16/30 | 1616/6259 | 1374/3390 | 458/1129 | chr8 | TogoVar | ||
ASAP1_chr8_130047104_130448674 | 130152754 | C | T | synonymous_variant | LOW | HG01168.hp1 HG01175.hp1 HG01934.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0151a0001c0004t0002g0157a0001c0004t0002g0182others(2): Show | 5 | 308 | 0.0162 | 0 | c.106 others(4): Show |
p.Leu others(6): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 13/30 | 1304/6259 | 1062/3390 | 354/1129 | chr8 | TogoVar | ||
ASAP1_chr8_130047104_130448674 | 130169025 | C | T | synonymous_variant | LOW | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0005t0005a0001c0005t0007others(1): Show | a0001c0005t0001g0166a0001c0005t0005g0285a0001c0005t0007g0002others(4): Show | 7 | 308 | 0.0227 | 0 | c.789 others(3): Show |
p.Gln others(6): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 10/30 | 1031/6259 | 789/3390 | 263/1129 | chr8 | TogoVar | ||
ASAP1_chr8_130047104_130448674 | 130179314 | C | T | synonymous_variant | LOW | HG03098.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0244 | 1 | 308 | 0.0033 | 0 | c.696 others(3): Show |
p.Lys others(6): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 9/30 | 938/6259 | 696/3390 | 232/1129 | chr8 | TogoVar | ||
ASAP1_chr8_130047104_130448674 | 130180874 | T | C | synonymous_variant | LOW | HG03669.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0156 | 1 | 308 | 0.0033 | 0 | c.537 others(3): Show |
p.Lys others(6): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 8/30 | 779/6259 | 537/3390 | 179/1129 | chr8 | TogoVar | ||
ASAP2_chr2_9201812_9410678 | 9279325 | C | T | synonymous_variant | LOW | HG01070.hp1 HG01884.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0014a0001c0006t0004g0018a0001c0006t0004g0032others(4): Show | 7 | 210 | 0.0333 | 0 | c.135 others(3): Show |
p.Asp others(5): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 2/28 | 428/5665 | 135/3021 | 45/1006 | chr2 | TogoVar | ||
ASAP2_chr2_9201812_9410678 | 9350888 | C | T | synonymous_variant | LOW | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(157): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0012others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(19): Show | a0001c0002t0001g0024a0001c0002t0001g0097a0001c0002t0001g0115others(157): Show | 160 | 210 | 0.7619 | 0 | c.110 others(4): Show |
p.Leu others(6): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 12/28 | 1397/5665 | 1104/3021 | 368/1006 | chr2 | TogoVar | ||
ASAP2_chr2_9201812_9410678 | 9356320 | C | T | synonymous_variant | LOW | HG01070.hp1 HG01109.hp1 HG01175.hp2 others(10): Show |
a0001 | a0001c0006a0001c0007 | a0001c0006t0004a0001c0007t0001a0001c0007t0004 | a0001c0006t0004g0014a0001c0006t0004g0018a0001c0006t0004g0032others(10): Show | 13 | 210 | 0.0619 | 0 | c.130 others(4): Show |
p.Asp others(6): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 14/28 | 1595/5665 | 1302/3021 | 434/1006 | chr2 | TogoVar | ||
ASAP2_chr2_9201812_9410678 | 9374788 | C | T | synonymous_variant | LOW | HG00642.hp1 HG01074.hp2 HG01099.hp2 others(10): Show |
a0002a0004 | a0002c0005a0004c0015 | a0002c0005t0001a0004c0015t0015 | a0002c0005t0001g0002a0002c0005t0001g0003a0002c0005t0001g0009others(10): Show | 13 | 210 | 0.0619 | 0 | c.159 others(4): Show |
p.Tyr others(6): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 17/28 | 1883/5665 | 1590/3021 | 530/1006 | chr2 | TogoVar | ||
ASAP2_chr2_9201812_9410678 | 9374830 | G | A | synonymous_variant | LOW | HG02895.hp1 | a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0047 | 1 | 210 | 0.0048 | 0 | c.163 others(4): Show |
p.Ala others(6): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 17/28 | 1925/5665 | 1632/3021 | 544/1006 | chr2 | TogoVar | ||
ASAP2_chr2_9201812_9410678 | 9378983 | C | G | synonymous_variant | LOW | HG01496.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0178 | 1 | 210 | 0.0048 | 0 | c.187 others(4): Show |
p.Ala others(6): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 19/28 | 2165/5665 | 1872/3021 | 624/1006 | chr2 | TogoVar | ||
ASAP2_chr2_9201812_9410678 | 9380745 | C | T | synonymous_variant | LOW | HG00639.hp1 HG00738.hp1 HG01109.hp2 others(16): Show |
a0001 | a0001c0004a0001c0010 | a0001c0004t0005a0001c0010t0018 | a0001c0004t0005g0010a0001c0004t0005g0021a0001c0004t0005g0028others(16): Show | 19 | 210 | 0.0905 | 0 | c.195 others(4): Show |
p.Asn others(6): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 20/28 | 2246/5665 | 1953/3021 | 651/1006 | chr2 | TogoVar | ||
ASAP2_chr2_9201812_9410678 | 9393645 | G | A | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00738.hp1 HG01109.hp2 others(16): Show |
a0001 | a0001c0004a0001c0012 | a0001c0004t0005a0001c0012t0003 | a0001c0004t0005g0010a0001c0004t0005g0021a0001c0004t0005g0028others(16): Show | 19 | 210 | 0.0905 | 0 | c.268 others(4): Show |
p.Pro others(6): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/28 | 2975/5665 | 2682/3021 | 894/1006 | chr2 | TogoVar | ||
ASAP2_chr2_9201812_9410678 | 9403318 | C | T | synonymous_variant | LOW | NA19043.hp2 | a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0045 | 1 | 210 | 0.0048 | 0 | c.301 others(4): Show |
p.Ile others(7): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 28/28 | 3305/5665 | 3012/3021 | 1004/1006 | chr2 | TogoVar | ||
ASAP3_chr1_23423563_23489179 | 23433258 | C | T | synonymous_variant | LOW | HG00621.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0267 | 1 | 346 | 0.0029 | 0 | c.214 others(4): Show |
p.Lys others(6): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 22/25 | 2188/4051 | 2142/2712 | 714/903 | chr1 | TogoVar | ||
ASAP3_chr1_23423563_23489179 | 23434535 | G | A | splice_region_variant others(1): Show |
LOW | HG02896.hp2 HG02897.hp1 HG03654.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0102a0001c0005t0001g0103a0001c0005t0001g0104others(1): Show | 4 | 346 | 0.0116 | 0 | c.183 others(4): Show |
p.Asn others(6): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 18/25 | 1879/4051 | 1833/2712 | 611/903 | chr1 | TogoVar | ||
ASAP3_chr1_23423563_23489179 | 23435872 | C | T | synonymous_variant | LOW | NA18945.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0292 | 1 | 346 | 0.0029 | 0 | c.172 others(4): Show |
p.Pro others(6): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 17/25 | 1774/4051 | 1728/2712 | 576/903 | chr1 | TogoVar | ||
ASAP3_chr1_23423563_23489179 | 23436956 | G | A | synonymous_variant | LOW | HG00099.hp1 HG01169.hp2 HG01255.hp1 others(7): Show |
a0001a0006 | a0001c0002a0006c0014 | a0001c0002t0002a0006c0014t0002 | a0001c0002t0002g0219a0001c0002t0002g0251a0001c0002t0002g0253others(7): Show | 10 | 346 | 0.0289 | 0 | c.143 others(4): Show |
p.Arg others(6): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 15/25 | 1477/4051 | 1431/2712 | 477/903 | chr1 | TogoVar | ||
ASAP3_chr1_23423563_23489179 | 23438799 | C | T | synonymous_variant | LOW | HG01433.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0234 | 1 | 346 | 0.0029 | 0 | c.105 others(4): Show |
p.Thr others(6): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 12/25 | 1096/4051 | 1050/2712 | 350/903 | chr1 | TogoVar | ||
ASAP3_chr1_23423563_23489179 | 23441176 | A | G | synonymous_variant | LOW | HG02896.hp2 HG02897.hp1 HG03654.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0102a0001c0005t0001g0103a0001c0005t0001g0104others(1): Show | 4 | 346 | 0.0116 | 0 | c.870 others(3): Show |
p.Tyr others(6): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 10/25 | 916/4051 | 870/2712 | 290/903 | chr1 | TogoVar | ||
ASAP3_chr1_23423563_23489179 | 23451511 | C | G | synonymous_variant | LOW | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0156a0001c0004t0001g0157a0001c0004t0001g0158others(4): Show | 7 | 346 | 0.0202 | 0 | c.441 others(3): Show |
p.Leu others(6): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 5/25 | 487/4051 | 441/2712 | 147/903 | chr1 | TogoVar | ||
ASAP3_chr1_23423563_23489179 | 23456022 | A | G | synonymous_variant | LOW | HG00544.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0202 | 1 | 346 | 0.0029 | 0 | c.207 others(3): Show |
p.His others(5): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 3/25 | 253/4051 | 207/2712 | 69/903 | chr1 | TogoVar | ||
ASB10_chr7_151170698_151192250 | 151181173 | C | G | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(255): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0008a0001c0033others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(22): Show | a0001c0002t0001g0032a0001c0002t0001g0080a0001c0002t0001g0093others(85): Show | 258 | 442 | 0.5837 | 0 | c.870 others(3): Show |
p.Ala others(6): Show |
ASB10 | ENSG00000146926.11 | transcript | ENST00000420175.3 | protein_coding | 3/6 | 990/1793 | 870/1404 | 290/467 | chr7 | TogoVar | ||
ASB10_chr7_151170698_151192250 | 151181233 | G | A | synonymous_variant | LOW | HG00323.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0111 | 1 | 442 | 0.0023 | 0 | c.810 others(3): Show |
p.Thr others(6): Show |
ASB10 | ENSG00000146926.11 | transcript | ENST00000420175.3 | protein_coding | 3/6 | 930/1793 | 810/1404 | 270/467 | chr7 | TogoVar | ||
ASB10_chr7_151170698_151192250 | 151181245 | G | A | synonymous_variant | LOW | HG00140.hp2 HG00597.hp2 HG00609.hp2 others(46): Show |
a0001a0002a0003others(3): Show | a0001c0008a0002c0032a0003c0004others(3): Show | a0001c0008t0001a0001c0008t0002a0002c0032t0001others(4): Show | a0001c0008t0001g0026a0001c0008t0001g0074a0001c0008t0002g0041others(12): Show | 49 | 442 | 0.1109 | 0 | c.798 others(3): Show |
p.Ala others(6): Show |
ASB10 | ENSG00000146926.11 | transcript | ENST00000420175.3 | protein_coding | 3/6 | 918/1793 | 798/1404 | 266/467 | chr7 | TogoVar | ||
ASB10_chr7_151170698_151192250 | 151181392 | G | A | synonymous_variant | LOW | HG02723.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0113 | 1 | 442 | 0.0023 | 0 | c.651 others(3): Show |
p.Thr others(6): Show |
ASB10 | ENSG00000146926.11 | transcript | ENST00000420175.3 | protein_coding | 3/6 | 771/1793 | 651/1404 | 217/467 | chr7 | TogoVar | ||
ASB10_chr7_151170698_151192250 | 151181455 | A | G | synonymous_variant | LOW | HG03471.hp1 | a0005 | a0005c0020 | a0005c0020t0005 | a0005c0020t0005g0065 | 1 | 442 | 0.0023 | 0 | c.588 others(3): Show |
p.Cys others(6): Show |
ASB10 | ENSG00000146926.11 | transcript | ENST00000420175.3 | protein_coding | 3/6 | 708/1793 | 588/1404 | 196/467 | chr7 | TogoVar | ||
ASB10_chr7_151170698_151192250 | 151186526 | G | A | synonymous_variant | LOW | HG02451.hp2 HG02647.hp2 |
a0005 | a0005c0017 | a0005c0017t0002 | a0005c0017t0002g0050 | 2 | 442 | 0.0045 | 0 | c.450 others(3): Show |
p.Thr others(6): Show |
ASB10 | ENSG00000146926.11 | transcript | ENST00000420175.3 | protein_coding | 2/6 | 570/1793 | 450/1404 | 150/467 | chr7 | TogoVar | ||
ASB10_chr7_151170698_151192250 | 151186655 | G | C | synonymous_variant | LOW | HG02970.hp1 | a0001 | a0001c0033 | a0001c0033t0002 | a0001c0033t0002g0082 | 1 | 442 | 0.0023 | 0 | c.321 others(3): Show |
p.Leu others(6): Show |
ASB10 | ENSG00000146926.11 | transcript | ENST00000420175.3 | protein_coding | 2/6 | 441/1793 | 321/1404 | 107/467 | chr7 | TogoVar | ||
ASB10_chr7_151170698_151192250 | 151187002 | C | T | synonymous_variant | LOW | HG03669.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0069 | 1 | 442 | 0.0023 | 0 | c.129 others(3): Show |
p.Pro others(5): Show |
ASB10 | ENSG00000146926.11 | transcript | ENST00000420175.3 | protein_coding | 1/6 | 249/1793 | 129/1404 | 43/467 | chr7 | TogoVar |