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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2314): Show |
downstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2321 | c.*44 others(2332): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
TBC1D15_chr12_71834759_71929313 | 71901331 | G | GTTTTTTT others(2314): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0057 | 1 | 364 | 0.0028 | 2321 | c.118 others(2340): Show |
TBC1D15 | ENSG00000121749.16 | transcript | ENST00000485960.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16741478 | T | TCCTCAGC others(2315): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0010 | a0008c0010t0047 | a0008c0010t0047g0005 | 1 | 300 | 0.0033 | 2322 | c.199 others(2339): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2315): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0019 | a0019c0013 | a0019c0013t0001 | a0019c0013t0001g0039 | 1 | 216 | 0.0046 | 2322 | c.801 others(2339): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2315): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 432 | 0.0023 | 2322 | c.-20 others(2333): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744883 | C | CCCTGGTT others(2315): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0131 | 1 | 196 | 0.0051 | 2322 | c.655 others(2339): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(2315): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0258 | 1 | 376 | 0.0027 | 2322 | c.101 others(2339): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432187 | G | GTGGATAG others(2315): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0268 | 1 | 376 | 0.0027 | 2322 | c.101 others(2339): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(2315): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 373 | 0.0027 | 2322 | c.115 others(2339): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(2316): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0135 | 1 | 338 | 0.0030 | 2323 | c.300 others(2340): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2316): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 104 | 0.0096 | 2323 | c.354 others(2342): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2316): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0008 | 1 | 104 | 0.0096 | 2323 | c.354 others(2342): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469999 | G | GAGGAGGG others(2316): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 104 | 0.0096 | 2323 | c.354 others(2342): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2316): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0034 | 1 | 216 | 0.0046 | 2323 | c.801 others(2340): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2316): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03669.hp2 |
a0001a0019 | a0001c0001a0019c0013 | a0001c0001t0001a0019c0013t0001 | a0001c0001t0001g0101a0019c0013t0001g0113 | 2 | 216 | 0.0093 | 2323 | c.801 others(2340): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2316): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0046 | a0046c0073 | a0046c0073t0001 | a0046c0073t0001g0062 | 1 | 216 | 0.0046 | 2323 | c.801 others(2340): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2316): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01934.hp2 NA18970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0006t0001a0001c0008t0001 | a0001c0001t0001g0095a0001c0006t0001g0137a0001c0008t0001g0177others(1): Show | 4 | 216 | 0.0185 | 2323 | c.801 others(2340): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
TTC24_chr1_156574723_156592719 | 156586449 | C | CCCCTCCC others(2316): Show |
splice_region_variant others(1): Show |
LOW | HG03209.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0054 | 1 | 442 | 0.0023 | 2323 | c.166 others(2336): Show |
TTC24 | ENSG00000187862.13 | transcript | ENST00000368236.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5305337 | A | ACACACAC others(2317): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0029 | a0029c0075 | a0029c0075t0001 | a0029c0075t0001g0301 | 1 | 332 | 0.0030 | 2324 | c.318 others(2343): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(2317): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 262 | 0.0038 | 2324 | c.106 others(2343): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2317): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 342 | 0.0029 | 2324 | c.366 others(2341): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329823 | G | GGGACTAC others(2317): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0035 | 1 | 82 | 0.0122 | 2324 | c.199 others(2343): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329823 | G | GGGACTAC others(2317): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 82 | 0.0122 | 2324 | c.199 others(2343): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2317): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 301 | 0.0033 | 2324 | c.-11 others(2335): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2317): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0038 | 1 | 216 | 0.0046 | 2324 | c.801 others(2341): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2317): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0044 | 1 | 216 | 0.0046 | 2324 | c.801 others(2341): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2317): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03579.hp1 |
a0005 | a0005c0018a0005c0032 | a0005c0018t0001a0005c0032t0017 | a0005c0018t0001g0185a0005c0032t0017g0085 | 2 | 216 | 0.0093 | 2324 | c.801 others(2341): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2317): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0071 | a0071c0033 | a0071c0033t0001 | a0071c0033t0001g0157 | 1 | 216 | 0.0046 | 2324 | c.801 others(2341): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2317): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 216 | 0.0046 | 2324 | c.801 others(2341): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2317): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0036 | 1 | 188 | 0.0053 | 2324 | c.147 others(2341): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | NA19058.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 375 | 0.0053 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG01978.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000a0001c0001t0006g0000 | 20 | 375 | 0.0533 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2317): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2324 | c.*44 others(2335): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2318): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0026 | a0003c0026t0001 | a0003c0026t0001g0070 | 1 | 334 | 0.0030 | 2325 | c.147 others(2342): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112862997 | A | ATGCAGCT others(2318): Show |
intron_variant | MODIFIER | HG03831.hp2 HG04228.hp2 |
a0001a0005 | a0001c0004a0005c0032 | a0001c0004t0001a0005c0032t0001 | a0001c0004t0001g0224a0005c0032t0001g0234 | 2 | 254 | 0.0079 | 2325 | c.299 others(2344): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0008 | a0008c0014 | a0008c0014t0002 | a0008c0014t0002g0016 | 1 | 104 | 0.0096 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02922.hp1 |
a0002a0048 | a0002c0016a0048c0064 | a0002c0016t0003a0048c0064t0001 | a0002c0016t0003g0025a0048c0064t0001g0098 | 2 | 104 | 0.0192 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0007 | a0007c0023 | a0007c0023t0001 | a0007c0023t0001g0042 | 1 | 104 | 0.0096 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0029 | a0029c0037 | a0029c0037t0006 | a0029c0037t0006g0002 | 1 | 104 | 0.0096 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0032 | 1 | 104 | 0.0096 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2318): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0020 | a0020c0043 | a0020c0043t0001 | a0020c0043t0001g0052 | 1 | 104 | 0.0096 | 2325 | c.354 others(2344): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251277 | C | CCACACAT others(2318): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 116 | 0.0086 | 2325 | c.207 others(2344): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2318): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0201 | 1 | 212 | 0.0047 | 2325 | c.131 others(2344): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(2318): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0053 | a0053c0097 | a0053c0097t0001 | a0053c0097t0001g0119 | 1 | 174 | 0.0058 | 2325 | c.193 others(2344): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(2318): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0092 | 1 | 323 | 0.0031 | 2325 | c.-21 others(2336): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2318): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0208 | 1 | 216 | 0.0046 | 2325 | c.801 others(2342): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2319): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0286 | 1 | 342 | 0.0029 | 2326 | c.573 others(2343): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar |