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(813): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0121 | 1 | 2 | 0.5000 | 820 | c.162 others(841): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(813): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0138 | 1 | 2 | 0.5000 | 820 | c.162 others(841): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(813): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0003 | a0001c0003t0079 | a0001c0003t0079g0135 | 1 | 2 | 0.5000 | 820 | c.162 others(841): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647358 | A | ACCCCTCC others(813): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0184 | 1 | 179 | 0.0056 | 820 | c.*52 others(831): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2014 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647410 | C | CTCCACAA others(813): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0188 | 1 | 268 | 0.0037 | 820 | c.*52 others(831): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2066 | chr15 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(813): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0011 | a0011c0016 | a0011c0016t0048 | a0011c0016t0048g0106 | 1 | 2 | 0.5000 | 820 | c.415 others(841): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(813): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0114 | a0001c0114t0003 | a0001c0114t0003g0119 | 1 | 2 | 0.5000 | 820 | c.415 others(841): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15931554 | G | GAGTGAGT others(813): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0003 | a0003c0003t0044 | a0003c0003t0044g0118 | 1 | 384 | 0.0026 | 820 | c.199 others(837): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15931601 | T | TGAGGAGA others(813): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0004 | a0001c0004t0071 | a0001c0004t0071g0041 | 1 | 235 | 0.0043 | 820 | c.199 others(837): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933312 | A | ATGAGTGA others(813): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0133 | 1 | 371 | 0.0027 | 820 | c.198 others(835): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933332 | A | ATGAGTGA others(813): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0001 | a0002c0001t0147 | a0002c0001t0147g0348 | 1 | 374 | 0.0027 | 820 | c.198 others(835): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933445 | G | GAGAGGAA others(813): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0001 | a0002c0001t0023 | a0002c0001t0023g0357 | 1 | 354 | 0.0028 | 820 | c.198 others(835): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933705 | G | GAGAGGAA others(813): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0001 | a0002c0001t0087 | a0002c0001t0087g0155 | 1 | 326 | 0.0031 | 820 | c.198 others(835): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(813): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0117 | 1 | 78 | 0.0128 | 820 | c.183 others(839): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(813): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0071 | a0001c0071t0002 | a0001c0071t0002g0198 | 1 | 214 | 0.0047 | 820 | c.118 others(839): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89635050 | C | CCCTTTCC others(813): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 231 | 0.0043 | 820 | c.105 others(835): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486886 | A | ACCTGCCC others(813): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 3 | 342 | 0.0088 | 820 | c.*14 others(831): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1127 | chr20 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329329 | A | ACTACACG others(813): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0024 | a0024c0036 | a0024c0036t0001 | a0024c0036t0001g0003 | 1 | 55 | 0.0182 | 820 | c.199 others(839): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329626 | A | ACTACACG others(813): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0014 | 1 | 60 | 0.0167 | 820 | c.199 others(839): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FAM118A_chr22_45304934_45346955 | 45328066 | A | ATGGGCTG others(813): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 409 | 0.0024 | 820 | c.522 others(833): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(813): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 | 1 | 295 | 0.0034 | 820 | c.522 others(835): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435781 | G | GAGGGAAG others(813): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0018 | 1 | 41 | 0.0244 | 820 | c.-16 others(841): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435919 | G | GGAAGGGA others(813): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0016 | 1 | 90 | 0.0111 | 820 | c.-16 others(841): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817304 | C | CGGGACAC others(813): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 142 | 0.0070 | 820 | c.*35 others(831): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3244 | chr13 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128866235 | A | ATTTTTTA others(813): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0005 | a0005c0009 | a0005c0009t0008 | a0005c0009t0008g0023 | 1 | 303 | 0.0033 | 820 | c.69- others(835): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128866235 | A | ATTTTTTA others(813): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0317 | 1 | 303 | 0.0033 | 820 | c.69- others(835): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128866235 | A | ATTTTTTA others(813): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02257.hp1 HG02647.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0062 a0001c0002t0001g0319 others(3): Show |
6 | 308 | 0.0195 | 820 | c.69- others(835): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(813): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0003 | 1 | 12 | 0.0833 | 820 | c.*28 others(831): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTCT others(813): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 270 | 0.0037 | 820 | c.-5+ others(833): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTCT others(813): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 270 | 0.0037 | 820 | c.-5+ others(833): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTCT others(813): Show |
intron_variant | MODIFIER | NA18969.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 2 | 271 | 0.0074 | 820 | c.-5+ others(833): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTCT others(813): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 2 | 271 | 0.0074 | 820 | c.-5+ others(833): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTCT others(813): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0026 | a0001c0001t0002g0005 a0001c0001t0002g0149 a0001c0001t0002g0150 others(3): Show |
18 | 287 | 0.0627 | 820 | c.-5+ others(833): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925812 | A | ATGGATGG others(813): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0071 | 1 | 354 | 0.0028 | 820 | c.666 others(837): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(813): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0056 | 1 | 285 | 0.0035 | 820 | c.666 others(837): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(813): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 285 | 0.0035 | 820 | c.666 others(837): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514923 | C | CCCAATCA others(813): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0209 a0001c0001t0004g0210 |
2 | 266 | 0.0075 | 820 | c.104 others(839): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(813): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03195.hp2 |
a0030a0031 | a0030c0032a0031c0060 | a0030c0032t0005a0031c0060t0001 | a0030c0032t0005g0048 a0031c0060t0001g0043 |
2 | 9 | 0.2222 | 820 | c.507 others(839): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(813): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0024 | a0024c0014 | a0024c0014t0005 | a0024c0014t0005g0063 | 1 | 8 | 0.1250 | 820 | c.507 others(839): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(813): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0018 | a0003c0018t0001 | a0003c0018t0001g0032 | 1 | 8 | 0.1250 | 820 | c.507 others(839): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(813): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0081 | 1 | 8 | 0.1250 | 820 | c.507 others(839): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(813): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 HG02976.hp1 HG03471.hp1 others(2): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 a0002c0005t0001g0012 |
5 | 174 | 0.0287 | 820 | c.-30 others(831): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(813): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0262 | 1 | 220 | 0.0045 | 820 | c.129 others(839): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364519 | G | GCGCTTAC others(813): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 207 | 0.0048 | 820 | c.129 others(837): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(813): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0134 a0001c0001t0001g0139 |
3 | 10 | 0.3000 | 820 | c.641 others(835): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(813): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0109 | a0109c0030 | a0109c0030t0001 | a0109c0030t0001g0107 | 1 | 130 | 0.0077 | 820 | c.148 others(839): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40084296 | T | TATAATAC others(813): Show |
intron_variant | MODIFIER | HG02486.hp2 NA21309.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0105 a0001c0004t0003g0165 |
2 | 106 | 0.0189 | 820 | c.332 others(839): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58209319 | C | CCTCCTCG others(813): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0101 | 1 | 116 | 0.0086 | 820 | c.123 others(839): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535645 | T | TCCCAGGG others(813): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0238 | 1 | 124 | 0.0081 | 820 | c.140 others(837): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
OPRK1_chr8_53220724_53256637 | 53253023 | C | CTTCATAA others(813): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00673.hp2 others(48): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(6): Show | a0001c0001t0001g0098 a0001c0001t0001g0174 a0001c0001t0004g0007 others(31): Show |
51 | 228 | 0.2237 | 820 | c.-16 others(831): Show |
OPRK1 | ENSG00000082556.14 | transcript | ENST00000265572.8 | protein_coding | 1387 | chr8 | TogoVar |