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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2338): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 364 | 0.0027 | 2345 | c.68- others(2360): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2338): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 4 | 0.2500 | 2345 | c.972 others(2358): 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(2338): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 4 | 0.2500 | 2345 | c.972 others(2358): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2338): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0125 | 1 | 8 | 0.1250 | 2345 | c.723 others(2362): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LEFTY2_chr1_225931603_225946220 | 225931981 | T | TTTTTTTT others(2338): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 452 | 0.0022 | 2345 | c.*54 others(2356): Show |
LEFTY2 | ENSG00000143768.13 | transcript | ENST00000366820.10 | protein_coding | 4621 | chr1 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101311711 | C | CCCCTCAC others(2338): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 294 | 0.0034 | 2345 | c.269 others(2364): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2338): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0009 | a0009c0016 | a0009c0016t0007 | a0009c0016t0007g0002 | 1 | 2 | 0.5000 | 2345 | c.801 others(2362): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2338): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0071 | 1 | 2 | 0.5000 | 2345 | c.801 others(2362): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
TRAPPC10_chr21_44007309_44111552 | 44110318 | C | CAACATTC others(2338): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 251 | 0.0040 | 2345 | c.*67 others(2356): Show |
TRAPPC10 | ENSG00000160218.13 | transcript | ENST00000291574.9 | protein_coding | 3767 | chr21 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2338): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 146 | 0.0068 | 2345 | c.114 others(2362): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2339): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0256 | 1 | 40 | 0.0250 | 2346 | c.179 others(2367): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGGT others(2339): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0034 | 1 | 225 | 0.0044 | 2346 | c.373 others(2363): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2339): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0012 | a0012c0029 | a0012c0029t0001 | a0012c0029t0001g0033 | 1 | 13 | 0.0769 | 2346 | c.354 others(2365): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(2339): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01891.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0003others(4): Show | a0001c0001t0001a0001c0011t0031a0002c0003t0034others(4): Show | a0001c0001t0001g0069 a0001c0011t0031g0035 a0002c0003t0034g0059 others(4): Show |
7 | 9 | 0.7778 | 2346 | c.219 others(2365): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2339): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 4 | 0.2500 | 2346 | c.972 others(2359): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218216 | A | ACCCACAA others(2339): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 93 | 0.0108 | 2346 | c.*26 others(2357): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1047 | chr8 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591689 | A | ATGATGGT others(2339): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 253 | 0.0040 | 2346 | c.*51 others(2357): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4112 | chr5 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(2339): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 192 | 0.0052 | 2346 | c.215 others(2363): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(2339): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 192 | 0.0052 | 2346 | c.215 others(2363): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2339): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01243.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 4 | 11 | 0.3636 | 2346 | c.-20 others(2357): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2339): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 8 | 0.1250 | 2346 | c.-20 others(2357): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 304162 | T | GTGGGGAG others(2339): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0126 | 1 | 58 | 0.0172 | 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 | a0001c0002t0002g0326 | 1 | 315 | 0.0032 | 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 | 4 | 0.2500 | 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 | 4 | 0.2500 | 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 | 7 | 0.5714 | 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 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0005c0009t0001 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0015 others(11): Show |
35 | 38 | 0.9211 | 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 | a0001c0001t0019 | a0001c0001t0019g0092 a0001c0001t0019g0093 |
2 | 10 | 0.2000 | 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 | a0027 | a0027c0099 | a0027c0099t0001 | a0027c0099t0001g0065 | 1 | 2 | 0.5000 | 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 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0038 | 1 | 13 | 0.0769 | 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 | 13 | 0.0769 | 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 | 102 | 0.0098 | 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 | 4 | 0.2500 | 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 | 4 | 0.2500 | 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 | 4 | 0.2500 | 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 | 351 | 0.0028 | 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 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0013 | 1 | 8 | 0.1250 | 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 | a0015c0120 | a0015c0120t0013 | a0015c0120t0013g0202 | 1 | 2 | 0.5000 | 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 | a0004c0002t0001g0144 | 1 | 2 | 0.5000 | 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 | a0062 | a0062c0086 | a0062c0086t0001 | a0062c0086t0001g0078 | 1 | 2 | 0.5000 | 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 | 9 | 0.2222 | 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 | a0003c0003t0001g0098 | 1 | 346 | 0.0029 | 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 | 168 | 0.0060 | 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 | a0002c0002t0001g0259 | 1 | 287 | 0.0035 | 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 | 4 | 0.2500 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 4 | 0.2500 | 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 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0014 a0001c0001t0001g0146 a0001c0001t0001g0157 others(3): Show |
8 | 11 | 0.7273 | 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 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0154 | 1 | 2 | 0.5000 | 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 | 322 | 0.0031 | 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 | a0001c0001t0009g0115 | 1 | 184 | 0.0054 | 2349 | c.-50 others(2360): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4967 | chr12 | TogoVar |