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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC9A3_chr5_465456_529449 | 507670 | A | ACAGACGC others(1028): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 218 | 0.0046 | 1035 | c.212 others(1054): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377652 | T | TCCCCGTC others(1028): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0087 | 1 | 114 | 0.0088 | 1035 | c.-25 others(1054): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
WDR7_chr18_56646359_57034792 | 57024580 | A | AATTTCAC others(1028): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 144 | 0.0069 | 1035 | c.427 others(1054): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ZNF605_chr12_132913306_132961306 | 132954434 | A | AAGGGTGG others(1028): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0012 | 1 | 126 | 0.0079 | 1035 | c.-28 others(1054): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(1029): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 262 | 0.0038 | 1036 | c.106 others(1055): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1029): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20129.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0021 | 2 | 342 | 0.0059 | 1036 | c.578 others(1049): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1029): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01069.hp1 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 9 | 342 | 0.0263 | 1036 | c.578 others(1049): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1029): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0060 | 1 | 342 | 0.0029 | 1036 | c.578 others(1049): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1029): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02622.hp1 others(7): Show |
a0002a0017 | a0002c0003a0017c0017 | a0002c0003t0003a0017c0017t0003 | a0002c0003t0003g0003a0002c0003t0003g0056a0017c0017t0003g0003 | 10 | 342 | 0.0292 | 1036 | c.578 others(1049): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1029): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 318 | 0.0031 | 1036 | c.285 others(1055): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1029): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 318 | 0.0031 | 1036 | c.285 others(1055): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1029): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18962.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0275a0002c0003t0001g0143 | 2 | 318 | 0.0063 | 1036 | c.285 others(1055): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1029): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0130a0001c0001t0013g0266 | 2 | 318 | 0.0063 | 1036 | c.285 others(1055): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25758393 | A | ACTCATTC others(1029): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0081 | 1 | 300 | 0.0033 | 1036 | c.655 others(1055): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(1029): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0027 | 1 | 391 | 0.0026 | 1036 | c.*36 others(1047): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411302 | T | TCACTGCT others(1029): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0042 | 1 | 322 | 0.0031 | 1036 | c.-23 others(1047): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2156 | chr19 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1129301 | C | CCGGGCTG others(1029): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0247a0001c0001t0005g0248 | 2 | 326 | 0.0061 | 1036 | c.-1- others(1051): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138126361 | A | ACGAGGCC others(1029): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0044 | a0001c0044t0005 | a0001c0044t0005g0239 | 1 | 248 | 0.0040 | 1036 | c.*43 others(1047): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1743 | chr9 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(1029): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0030 | 1 | 184 | 0.0054 | 1036 | c.449 others(1053): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGAC others(1029): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0114 | 1 | 278 | 0.0036 | 1036 | c.328 others(1053): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1029): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0006 | a0006c0034 | a0006c0034t0009 | a0006c0034t0009g0193 | 1 | 272 | 0.0037 | 1036 | c.109 others(1055): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15933856 | G | GTGAGCGG others(1029): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0355 | 1 | 386 | 0.0026 | 1036 | c.198 others(1051): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1029): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0094 | a0094c0093 | a0094c0093t0001 | a0094c0093t0001g0089 | 1 | 252 | 0.0040 | 1036 | c.118 others(1055): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438445 | G | GGAGGAGG others(1029): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0060 | a0060c0065 | a0060c0065t0001 | a0060c0065t0001g0216 | 1 | 252 | 0.0040 | 1036 | c.118 others(1055): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01192.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0032a0001c0004t0001g0076 | 2 | 374 | 0.0054 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0055 | 1 | 374 | 0.0027 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 NA18971.hp1 NA19057.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001a0001c0003t0001g0194a0001c0003t0001g0206 | 3 | 374 | 0.0080 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0186 | 1 | 374 | 0.0027 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp1 others(13): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0014a0001c0002t0001g0018a0001c0002t0001g0021others(9): Show | 16 | 374 | 0.0428 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1029): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 374 | 0.0027 | 1036 | c.*14 others(1047): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3316036 | A | ATCACCAC others(1029): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0104 | 1 | 250 | 0.0040 | 1036 | c.259 others(1055): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(1029): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02486.hp2 HG02622.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0002c0004others(4): Show | a0001c0001t0002a0001c0011t0010a0002c0004t0003others(6): Show | a0001c0001t0002g0099a0001c0011t0010g0053a0001c0011t0010g0116others(9): Show | 12 | 125 | 0.0960 | 1036 | c.928 others(1053): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355476 | G | GAAGGAGG others(1029): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 82 | 0.0122 | 1036 | c.758 others(1051): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261580 | G | GCCCTCCA others(1029): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG01496.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0059a0001c0001t0001g0084a0001c0001t0001g0218others(6): Show | 9 | 292 | 0.0308 | 1036 | c.571 others(1053): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1029): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0050 | 1 | 408 | 0.0025 | 1036 | c.-14 others(1055): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GET4_chr7_871554_901436 | 890137 | C | CGGGGTCT others(1029): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0155 | 1 | 384 | 0.0026 | 1036 | c.467 others(1051): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GET4_chr7_871554_901436 | 890137 | C | CGGGGTCT others(1029): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02132.hp1 NA18962.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(1): Show | a0001c0002t0001g0141a0001c0002t0002g0153a0001c0002t0002g0154others(2): Show | 5 | 384 | 0.0130 | 1036 | c.467 others(1051): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240625974 | T | TGGGGGTC others(1029): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 400 | 0.0025 | 1036 | c.-5+ others(1049): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 315730 | G | GACACAGA others(1029): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0090 | 1 | 155 | 0.0065 | 1036 | c.488 others(1051): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1029): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0042 | 1 | 350 | 0.0029 | 1036 | c.94- others(1049): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HRAS_chr11_527242_540576 | 531062 | C | CGAGTGTG others(1029): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 397 | 0.0025 | 1036 | c.*14 others(1047): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1179 | chr11 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132552672 | A | AGGATAGG others(1029): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 204 | 0.0049 | 1036 | c.75+ others(1053): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INSR_chr19_7107265_7299414 | 7153367 | C | CCACACAC others(1029): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0069 | 1 | 300 | 0.0033 | 1036 | c.203 others(1053): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349483 | G | GCAGATCC others(1029): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 462 | 0.0022 | 1036 | c.*57 others(1047): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1900 | chr19 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1029): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 1 | 422 | 0.0024 | 1036 | c.-30 others(1047): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186102 | G | GGAGGAAC others(1029): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 350 | 0.0029 | 1036 | c.*30 others(1047): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2887 | chr16 | TogoVar | ||||||
NLRP5_chr19_55994726_56066810 | 56019508 | T | TTCTCATT others(1029): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0145 | 1 | 396 | 0.0025 | 1036 | c.623 others(1049): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(1029): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 242 | 0.0041 | 1036 | c.360 others(1055): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309747 | C | CCCAGTGA others(1029): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076a0001c0001t0002g0077 | 2 | 360 | 0.0056 | 1036 | c.368 others(1053): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDCD6_chr5_266646_319974 | 309783 | T | TGGCCGCC others(1029): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 360 | 0.0028 | 1036 | c.368 others(1053): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |