view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 304162 | T | GTGGGGAG others(2339): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0126 | 1 | 133 | 0.0075 | 2346 | c.351 others(2360): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(2339): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0325 | 1 | 373 | 0.0027 | 2346 | c.115 others(2363): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2340): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 390 | 0.0026 | 2347 | c.972 others(2360): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2340): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 390 | 0.0026 | 2347 | c.972 others(2360): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2340): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18943.hp2 NA18948.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 4 | 390 | 0.0103 | 2347 | c.972 others(2360): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2340): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(32): Show |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0001a0001c0001t0002a0007c0014t0001 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0015 others(11): Show |
35 | 390 | 0.0897 | 2347 | c.972 others(2360): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2340): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0093 a0001c0001t0027g0094 |
2 | 302 | 0.0066 | 2347 | c.*39 others(2358): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2340): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0031 | a0031c0118 | a0031c0118t0001 | a0031c0118t0001g0066 | 1 | 216 | 0.0046 | 2347 | c.801 others(2364): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2341): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0038 | 1 | 104 | 0.0096 | 2348 | c.354 others(2367): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2341): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 104 | 0.0096 | 2348 | c.354 others(2367): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469993 | A | AGGGAGGA others(2341): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 104 | 0.0096 | 2348 | c.354 others(2367): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2341): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 390 | 0.0026 | 2348 | c.972 others(2361): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2341): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 390 | 0.0026 | 2348 | c.972 others(2361): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2341): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 390 | 0.0026 | 2348 | c.972 others(2361): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997285 | G | GGGGCGGG others(2341): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0009 | 1 | 375 | 0.0027 | 2348 | c.-21 others(2359): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 385 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2341): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0015 | a0015c0141 | a0015c0141t0001 | a0015c0141t0001g0015 | 1 | 186 | 0.0054 | 2348 | c.723 others(2365): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2341): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0015 | a0015c0141 | a0015c0141t0014 | a0015c0141t0014g0200 | 1 | 216 | 0.0046 | 2348 | c.801 others(2365): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2341): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0140 | 1 | 216 | 0.0046 | 2348 | c.801 others(2365): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2341): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0079 | a0079c0098 | a0079c0098t0001 | a0079c0098t0001g0082 | 1 | 216 | 0.0046 | 2348 | c.801 others(2365): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2341): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 2 | 432 | 0.0046 | 2348 | c.-20 others(2359): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37166449 | T | TCCCTCCC others(2341): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0106 | 1 | 354 | 0.0028 | 2348 | c.*14 others(2359): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 1370 | chr2 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911538 | G | GGGACTGT others(2342): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0146 | 1 | 170 | 0.0059 | 2349 | c.101 others(2368): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241457504 | A | ACCCAGTG others(2342): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0258 | 1 | 378 | 0.0027 | 2349 | c.158 others(2366): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2342): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 390 | 0.0026 | 2349 | c.972 others(2362): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2342): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0143 | 1 | 390 | 0.0026 | 2349 | c.972 others(2362): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2342): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02698.hp1 NA18952.hp1 others(5): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0014 a0001c0001t0001g0146 a0001c0001t0001g0157 others(3): Show |
8 | 390 | 0.0205 | 2349 | c.972 others(2362): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGG others(2342): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0153 | 1 | 216 | 0.0046 | 2349 | c.801 others(2366): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2342): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 2349 | c.*44 others(2360): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453171 | T | TAAATATG others(2342): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0113 | 1 | 186 | 0.0054 | 2349 | c.-50 others(2360): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4967 | chr12 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(2343): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0014 | 1 | 391 | 0.0026 | 2350 | c.*36 others(2361): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(2343): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0026 | 1 | 40 | 0.0250 | 2350 | c.169 others(2367): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240184948 | T | TCCCCTTC others(2343): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0064 | a0064c0127 | a0064c0127t0001 | a0064c0127t0001g0161 | 1 | 174 | 0.0058 | 2350 | c.193 others(2369): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2343): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 390 | 0.0026 | 2350 | c.972 others(2363): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71679943 | T | TCCTCCTC others(2343): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 76 | 0.0132 | 2350 | c.150 others(2369): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2343): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0035 | 1 | 116 | 0.0086 | 2350 | c.522 others(2367): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(2343): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 332 | 0.0030 | 2350 | c.112 others(2367): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
ATG9B_chr7_151010151_151029494 | 151014596 | T | TACAGTTT others(2344): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 466 | 0.0022 | 2351 | c.*11 others(2362): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 554 | chr7 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(2344): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0256 | 1 | 308 | 0.0033 | 2351 | c.157 others(2368): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2344): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 390 | 0.0026 | 2351 | c.972 others(2364): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2344): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 390 | 0.0026 | 2351 | c.972 others(2364): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649153 | A | ACCCGGCA others(2344): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 332 | 0.0030 | 2351 | c.112 others(2368): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2344): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0087 | a0087c0082 | a0087c0082t0001 | a0087c0082t0001g0152 | 1 | 216 | 0.0046 | 2351 | c.801 others(2368): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492394 | C | CCCGGGAG others(2344): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0258 | 1 | 295 | 0.0034 | 2351 | c.126 others(2370): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130392796 | T | TGTCCGTC others(2344): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0173 | 1 | 180 | 0.0056 | 2351 | c.*45 others(2362): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3336 | chr12 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2344): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2351 | c.*44 others(2362): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2344): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2351 | c.*44 others(2362): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2344): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0051 | 1 | 214 | 0.0047 | 2351 | c.206 others(2370): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2344): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 320 | 0.0031 | 2351 | c.356 others(2366): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2344): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 320 | 0.0031 | 2351 | c.356 others(2366): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111247 | A | AACCTGCC others(2345): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0022 | a0001c0022t0060 | a0001c0022t0060g0291 | 1 | 368 | 0.0027 | 2352 | c.401 others(2369): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |