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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1189): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0213 | 1 | 278 | 0.0036 | 1196 | c.328 others(1213): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(1189): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 345 | 0.0029 | 1196 | c.*17 others(1207): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(1189): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 1196 | c.*22 others(1207): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323207 | T | TATATATA others(1189): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0134 | 1 | 323 | 0.0031 | 1196 | c.-18 others(1207): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1762 | chr21 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161678 | G | GGACCCCT others(1189): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 376 | 0.0027 | 1196 | c.-52 others(1205): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 470 | chr11 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CTCTCCCC others(1189): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0113 | 1 | 158 | 0.0063 | 1196 | c.*11 others(1217): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA0930_chr22_45187244_45245894 | 45228782 | A | AACCACCA others(1189): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 398 | 0.0025 | 1196 | c.64+ others(1213): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1189): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(44): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0111others(44): Show | 47 | 242 | 0.1942 | 1196 | c.174 others(1215): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1189): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194a0001c0001t0001g0197 | 2 | 242 | 0.0083 | 1196 | c.174 others(1215): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1189): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0192 | 1 | 242 | 0.0041 | 1196 | c.174 others(1215): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132359099 | C | CAGCGTAG others(1189): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0105 | 1 | 290 | 0.0035 | 1196 | c.117 others(1215): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1189): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 108 | 0.0093 | 1196 | c.648 others(1215): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1189): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03516.hp2 NA19043.hp1 |
a0001a0019 | a0001c0001a0001c0005a0019c0019 | a0001c0001t0005a0001c0005t0005a0019c0019t0005 | a0001c0001t0005g0146a0001c0005t0005g0144a0019c0019t0005g0145 | 3 | 334 | 0.0090 | 1196 | c.-28 others(1215): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1189): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0133 | 1 | 334 | 0.0030 | 1196 | c.-28 others(1215): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370338 | G | GCTACCCC others(1189): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0041 | 1 | 376 | 0.0027 | 1196 | c.*16 others(1207): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1189): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0224 | 1 | 302 | 0.0033 | 1196 | c.533 others(1213): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1189): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0003 | a0003c0039 | a0003c0039t0001 | a0003c0039t0001g0056 | 1 | 302 | 0.0033 | 1196 | c.533 others(1213): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1189): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 188 | 0.0053 | 1196 | c.147 others(1213): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
RIMS2_chr8_103495610_104259430 | 103706759 | T | TCTTGGAG others(1189): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0148 | 1 | 172 | 0.0058 | 1196 | c.507 others(1213): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(1189): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0098 | 1 | 314 | 0.0032 | 1196 | c.916 others(1213): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GCGATTGT others(1189): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0003 | a0003c0003t0055 | a0003c0003t0055g0095 | 1 | 150 | 0.0067 | 1196 | c.914 others(1213): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77485015 | G | GCGATTGT others(1189): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0003 | a0003c0003t0043 | a0003c0003t0043g0046 | 1 | 158 | 0.0063 | 1196 | c.860 others(1213): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | chr17 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(1189): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 322 | 0.0031 | 1196 | c.597 others(1213): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747340 | A | AAAGGTGG others(1189): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0053 | 1 | 314 | 0.0032 | 1196 | c.189 others(1211): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1189): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0076a0001c0001t0006g0068 | 2 | 167 | 0.0120 | 1196 | c.*53 others(1207): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
ZC3H3_chr8_143432659_143546447 | 143486847 | G | GCCCCATC others(1189): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0222 | 1 | 352 | 0.0028 | 1196 | c.171 others(1217): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654114 | A | ATCCTCAC others(1190): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0322 | 1 | 394 | 0.0025 | 1197 | c.-52 others(1214): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART1_chr11_3640128_3669416 | 3654177 | A | ATCCTCAC others(1190): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01517.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0037a0004c0005t0001g0094a0004c0005t0001g0166 | 3 | 394 | 0.0076 | 1197 | c.-52 others(1214): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1190): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0187 | 1 | 210 | 0.0048 | 1197 | c.273 others(1214): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGGC others(1190): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0006 | a0006c0004 | a0006c0004t0004 | a0006c0004t0004g0022 | 1 | 338 | 0.0030 | 1197 | c.300 others(1214): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CDC16_chr13_114229897_114277723 | 114231224 | C | CGGGTGGA others(1190): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 380 | 0.0026 | 1197 | c.-38 others(1208): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3672 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231363 | A | AGGTGGGG others(1190): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 380 | 0.0026 | 1197 | c.-37 others(1208): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3533 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231420 | C | CGGTGGGG others(1190): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 NA18959.hp2 NA18962.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0030a0001c0002t0002g0057others(2): Show | 7 | 380 | 0.0184 | 1197 | c.-36 others(1208): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3476 | chr13 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231420 | C | CGGTGGGG others(1190): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 380 | 0.0026 | 1197 | c.-36 others(1208): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3476 | chr13 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939818 | A | AAAAGAAA others(1190): Show |
intron_variant | MODIFIER | HG01433.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184a0001c0001t0003g0220 | 2 | 258 | 0.0078 | 1197 | c.403 others(1212): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1190): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 258 | 0.0039 | 1197 | c.403 others(1212): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1190): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 2 | 258 | 0.0078 | 1197 | c.403 others(1212): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939886 | G | GAAAAAGA others(1190): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 258 | 0.0039 | 1197 | c.403 others(1212): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1190): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02293.hp1 NA19007.hp1 others(1): Show |
a0003a0028a0038 | a0003c0003a0028c0036a0038c0086 | a0003c0003t0001a0028c0036t0001a0038c0086t0001 | a0003c0003t0001g0166a0003c0003t0001g0203a0028c0036t0001g0276others(1): Show | 4 | 278 | 0.0144 | 1197 | c.328 others(1214): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251256 | C | CCCCACAC others(1190): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0053 | 1 | 116 | 0.0086 | 1197 | c.207 others(1216): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 455393 | T | TAAATGAG others(1190): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0040 | 1 | 88 | 0.0114 | 1197 | c.269 others(1216): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 455393 | T | TAAATGAG others(1190): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0054 | 1 | 88 | 0.0114 | 1197 | c.269 others(1216): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438438 | A | AGGAGGAG others(1190): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 252 | 0.0040 | 1197 | c.118 others(1216): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400975 | C | CACCACCA others(1190): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0007 | a0007c0078 | a0007c0078t0001 | a0007c0078t0001g0035 | 1 | 256 | 0.0039 | 1197 | c.323 others(1216): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EPHA8_chr1_22558489_22608595 | 22577987 | G | GTGTGCAT others(1190): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0020 | a0001c0020t0012 | a0001c0020t0012g0024 | 1 | 342 | 0.0029 | 1197 | c.823 others(1214): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTATTT others(1190): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0011 | a0011c0033 | a0011c0033t0002 | a0011c0033t0002g0219 | 1 | 394 | 0.0025 | 1197 | c.41- others(1212): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1190): Show |
downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0229 | 1 | 276 | 0.0036 | 1197 | c.*65 others(1208): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997508 | G | GGGGGGCG others(1190): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0256 | 1 | 375 | 0.0027 | 1197 | c.-19 others(1208): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 162 | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1190): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0125 | 1 | 186 | 0.0054 | 1197 | c.956 others(1214): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1190): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0089 | 1 | 318 | 0.0031 | 1197 | c.-49 others(1208): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar |