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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCNN1D_chr1_1275436_1297025 | 1290181 | G | GTCCCGTG others(885): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0282 | 1 | 290 | 0.0035 | 892 | c.166 others(907): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934446 | C | CATATATA others(885): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 324 | 0.0031 | 892 | c.115 others(909): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168614746 | G | GGCCTCTT others(885): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18522.hp2 |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0002a0005c0010t0001 | a0001c0002t0002g0038a0005c0010t0001g0130 | 2 | 180 | 0.0111 | 892 | c.907 others(909): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(885): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 322 | 0.0031 | 892 | c.597 others(909): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(885): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 270 | 0.0037 | 892 | c.-78 others(911): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(885): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0013 | 1 | 112 | 0.0089 | 892 | c.638 others(907): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(885): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0006 | a0003c0006t0035 | a0003c0006t0035g0345 | 1 | 352 | 0.0028 | 892 | c.299 others(909): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376854 | T | TCCACCCA others(885): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 370 | 0.0027 | 892 | c.-88 others(901): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 829 | chr19 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(885): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 384 | 0.0026 | 892 | c.424 others(909): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204340 | T | TATGATGA others(885): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0089 | a0001c0002t0089g0112 | 1 | 174 | 0.0058 | 892 | c.41- others(909): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(885): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 167 | 0.0060 | 892 | c.*53 others(903): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(885): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 246 | 0.0041 | 892 | c.-10 others(909): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502400 | T | TGGTGTGG others(886): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0062 | 1 | 310 | 0.0032 | 893 | c.267 others(912): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(886): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0000 | 1 | 416 | 0.0024 | 893 | c.*10 others(906): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(886): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 268 | 0.0037 | 893 | c.474 others(910): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1873433 | A | AGCCCGCG others(886): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03209.hp2 |
a0001a0004 | a0001c0009a0004c0139 | a0001c0009t0058a0004c0139t0009 | a0001c0009t0058g0200a0004c0139t0009g0196 | 2 | 363 | 0.0055 | 893 | c.680 others(910): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1873433 | A | AGCCCGCG others(886): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG02615.hp2 others(5): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0016others(4): Show | a0001c0001t0002g0224a0001c0002t0001g0211a0001c0002t0001g0267others(5): Show | 8 | 363 | 0.0220 | 893 | c.680 others(910): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
B3GNTL1_chr17_82937149_83056770 | 83022555 | C | CACTGTCC others(886): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 | 1 | 266 | 0.0038 | 893 | c.298 others(910): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 320 | 0.0031 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 320 | 0.0031 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 320 | 0.0031 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01943.hp2 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0237a0001c0001t0001g0255a0001c0001t0001g0264others(1): Show | 4 | 320 | 0.0125 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0168 | 1 | 320 | 0.0031 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(886): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG01891.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0032a0003c0003t0001g0033a0003c0003t0001g0037others(6): Show | 9 | 320 | 0.0281 | 893 | c.937 others(908): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(886): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0185 | 1 | 272 | 0.0037 | 893 | c.109 others(912): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(886): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02559.hp1 |
a0001a0006 | a0001c0033a0006c0040 | a0001c0033t0006a0006c0040t0009 | a0001c0033t0006g0190a0006c0040t0009g0189 | 2 | 272 | 0.0074 | 893 | c.109 others(912): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(886): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02129.hp1 NA18950.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0027 | a0001c0001t0003a0001c0004t0002a0001c0004t0033others(1): Show | a0001c0001t0003g0133a0001c0004t0002g0132a0001c0004t0033g0131others(1): Show | 4 | 272 | 0.0147 | 893 | c.109 others(912): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36287061 | A | ACTATGTA others(886): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 448 | 0.0022 | 893 | c.51+ others(908): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(886): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 448 | 0.0022 | 893 | c.51+ others(908): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(886): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18946.hp1 NA18962.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0024 | 8 | 448 | 0.0179 | 893 | c.51+ others(908): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAA others(886): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0145 | 1 | 384 | 0.0026 | 893 | c.215 others(910): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAT others(886): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0058 | 1 | 384 | 0.0026 | 893 | c.215 others(910): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(886): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01175.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0001g0172others(1): Show | 4 | 418 | 0.0096 | 893 | c.119 others(912): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(886): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0251 | 1 | 314 | 0.0032 | 893 | c.310 others(908): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(886): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0100 | 1 | 155 | 0.0065 | 893 | c.-37 others(904): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(886): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0203 | 1 | 323 | 0.0031 | 893 | c.-36 others(904): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(886): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0211 | 1 | 323 | 0.0031 | 893 | c.-36 others(904): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(886): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0015 | a0002c0015t0031 | a0002c0015t0031g0207 | 1 | 282 | 0.0036 | 893 | c.258 others(910): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163304 | C | CCCTCCCT others(886): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03471.hp1 |
a0003 | a0003c0010 | a0003c0010t0015 | a0003c0010t0015g0263a0003c0010t0015g0266 | 2 | 282 | 0.0071 | 893 | c.258 others(910): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(886): Show |
intron_variant | MODIFIER | NA19065.hp1 NA19067.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263a0001c0001t0001g0267a0001c0001t0001g0270 | 3 | 312 | 0.0096 | 893 | c.-41 others(908): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LDLRAD3_chr11_35939062_36237136 | 36055106 | A | ATAGAGGG others(886): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0034 | 1 | 236 | 0.0042 | 893 | c.193 others(912): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(886): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0268 | 1 | 364 | 0.0028 | 893 | c.52+ others(906): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(886): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0242 | 1 | 276 | 0.0036 | 893 | c.100 others(912): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(886): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 318 | 0.0031 | 893 | c.-49 others(904): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(886): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0144 | 1 | 318 | 0.0031 | 893 | c.-49 others(904): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(886): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 318 | 0.0031 | 893 | c.-49 others(904): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(886): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 318 | 0.0031 | 893 | c.-49 others(904): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(886): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0034 | 1 | 194 | 0.0052 | 893 | c.-12 others(912): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NCAPG2_chr7_158626169_158709804 | 158667329 | G | GCTCCTTA others(886): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 378 | 0.0027 | 893 | c.148 others(912): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(886): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0141 | 1 | 208 | 0.0048 | 893 | c.279 others(908): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar |