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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(928): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 337 | 0.0030 | 935 | c.61+ others(950): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(928): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0005 | a0005c0032 | a0005c0032t0054 | a0005c0032t0054g0060 | 1 | 228 | 0.0044 | 935 | c.259 others(956): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(928): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0180 | 1 | 182 | 0.0055 | 935 | c.505 others(954): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(928): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01515.hp1 HG01516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0002t0001g0119others(2): Show | 5 | 150 | 0.0333 | 935 | c.276 others(954): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(928): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0075 | 1 | 226 | 0.0044 | 935 | c.217 others(954): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(928): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0094 | 1 | 226 | 0.0044 | 935 | c.217 others(954): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140192 | T | TGGAGGGG others(928): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0065 | 1 | 226 | 0.0044 | 935 | c.217 others(954): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140203 | G | GCCCCCCG others(928): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0115 | 1 | 226 | 0.0044 | 935 | c.217 others(954): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(928): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0160 | 1 | 226 | 0.0044 | 935 | c.217 others(954): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79172210 | C | CCCTTGCG others(928): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0268 | 1 | 298 | 0.0034 | 935 | c.779 others(952): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79172210 | C | CCCTTGCG others(928): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01167.hp1 others(6): Show |
a0001a0004 | a0001c0006a0004c0008a0004c0036 | a0001c0006t0003a0001c0006t0004a0004c0008t0001others(1): Show | a0001c0006t0003g0267a0001c0006t0004g0273a0004c0008t0001g0001others(5): Show | 9 | 298 | 0.0302 | 935 | c.779 others(952): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(928): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0014 | 1 | 391 | 0.0026 | 935 | c.*36 others(946): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1003316 | G | GTCCTGTG others(928): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02723.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0281a0002c0002t0003g0288a0002c0002t0003g0300others(4): Show | 7 | 326 | 0.0215 | 935 | c.324 others(952): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGAGAA others(928): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0135 | 1 | 288 | 0.0035 | 935 | c.303 others(954): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(928): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01070.hp1 HG01106.hp2 others(16): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0004a0002c0003t0002 | a0001c0002t0002g0080a0001c0002t0002g0087a0001c0002t0002g0097others(15): Show | 19 | 418 | 0.0455 | 935 | c.*51 others(946): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(928): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0004 | a0002c0004t0057 | a0002c0004t0057g0202 | 1 | 270 | 0.0037 | 935 | c.162 others(956): 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(928): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0002 | a0002c0004 | a0002c0004t0060a0002c0004t0061 | a0002c0004t0060g0197a0002c0004t0061g0198 | 2 | 270 | 0.0074 | 935 | c.162 others(956): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924878 | G | GCCCCCCA others(928): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0268 | 1 | 350 | 0.0029 | 935 | c.489 others(950): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTU2_chr16_88701503_88720396 | 88713126 | T | TGAGAGCC others(928): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 418 | 0.0024 | 935 | c.738 others(950): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(928): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 240 | 0.0042 | 935 | c.*31 others(946): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(928): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 240 | 0.0042 | 935 | c.*31 others(946): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003864 | G | GTGCACGT others(928): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 412 | 0.0024 | 935 | c.*24 others(946): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1006 | chr16 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(928): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0303 | 1 | 358 | 0.0028 | 935 | c.236 others(954): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(928): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0340 | 1 | 358 | 0.0028 | 935 | c.236 others(954): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(928): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0301 | 1 | 358 | 0.0028 | 935 | c.236 others(954): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(928): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18977.hp2 NA18999.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0069a0001c0001t0003g0087others(2): Show | 9 | 358 | 0.0251 | 935 | c.236 others(954): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(928): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 358 | 0.0028 | 935 | c.236 others(954): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(928): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 358 | 0.0028 | 935 | c.236 others(954): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(928): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 358 | 0.0028 | 935 | c.236 others(954): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522750 | A | ACCCAGCC others(928): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 358 | 0.0028 | 935 | c.236 others(954): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400472 | C | CCACCTCC others(928): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0056 | a0056c0140 | a0056c0140t0004 | a0056c0140t0004g0064 | 1 | 256 | 0.0039 | 935 | c.323 others(954): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(928): Show |
intron_variant | MODIFIER | HG03710.hp2 HG04115.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005 | a0001c0001t0001g0245a0001c0003t0005g0349 | 2 | 418 | 0.0048 | 935 | c.119 others(954): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185145 | C | CTTCCCCC others(928): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0009 | a0009c0004 | a0009c0004t0003 | a0009c0004t0003g0043 | 1 | 174 | 0.0058 | 935 | c.193 others(954): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GEMIN4_chr17_739421_757264 | 749036 | G | GAGCAATC others(928): Show |
intron_variant | MODIFIER | NA18963.hp2 NA19087.hp2 NA19091.hp2 |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0024 | 3 | 434 | 0.0069 | 935 | c.11- others(950): Show |
GEMIN4 | ENSG00000179409.11 | transcript | ENST00000319004.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(928): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 314 | 0.0032 | 935 | c.310 others(950): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(928): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 314 | 0.0032 | 935 | c.310 others(950): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(928): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG02896.hp1 others(1): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0012 | a0002c0002t0001g0250a0002c0006t0012g0112a0002c0006t0012g0113others(1): Show | 4 | 314 | 0.0127 | 935 | c.310 others(950): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(928): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0232 | 1 | 350 | 0.0029 | 935 | c.94- others(948): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(928): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 350 | 0.0029 | 935 | c.94- others(948): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(928): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 312 | 0.0032 | 935 | c.-41 others(950): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(928): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0163 | 1 | 278 | 0.0036 | 935 | c.115 others(952): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(928): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 278 | 0.0036 | 935 | c.115 others(952): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(928): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 272 | 0.0037 | 935 | c.250 others(950): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTTTCCTT others(928): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 80 | 0.0125 | 935 | c.125 others(952): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767700 | G | GCGCGTGG others(928): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 388 | 0.0026 | 935 | c.159 others(952): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189541 | T | TGATATAT others(928): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0087 | 1 | 330 | 0.0030 | 935 | c.-5+ others(950): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195760489 | G | GTGGAGGG others(928): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0055 | a0055c0143 | a0055c0143t0001 | a0055c0143t0001g0007 | 1 | 249 | 0.0040 | 935 | c.148 others(954): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(928): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0295 | 1 | 308 | 0.0033 | 935 | c.371 others(952): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(928): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 |
a0004 | a0004c0005a0004c0040 | a0004c0005t0001a0004c0040t0001 | a0004c0005t0001g0136a0004c0040t0001g0135 | 2 | 308 | 0.0065 | 935 | c.371 others(952): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(928): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18970.hp2 |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0017a0004c0010t0026 | a0001c0002t0017g0202a0004c0010t0026g0207 | 2 | 210 | 0.0095 | 935 | c.438 others(954): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |