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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2321): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0003 | a0003c0115 | a0003c0115t0003 | a0003c0115t0003g0106 | 1 | 2 | 0.5000 | 2328 | c.801 others(2345): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2321): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0021 | a0021c0045 | a0021c0045t0002 | a0021c0045t0002g0207 | 1 | 2 | 0.5000 | 2328 | c.801 others(2345): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2321): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0223 | 1 | 143 | 0.0070 | 2328 | c.58- others(2345): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252911 | C | CCACCACC others(2322): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 341 | 0.0029 | 2329 | c.666 others(2346): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399534 | A | ACCACCAT others(2322): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 308 | 0.0032 | 2329 | c.-25 others(2346): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1372052 | A | ACTCCAGC others(2322): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0095 | 1 | 73 | 0.0137 | 2329 | c.875 others(2346): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2322): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0089 | 1 | 8 | 0.1250 | 2329 | c.723 others(2346): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2323): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2330 | c.*44 others(2341): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2323): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 162 | 0.0062 | 2330 | c.-50 others(2341): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2323): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 146 | 0.0068 | 2330 | c.114 others(2347): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2324): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 294 | 0.0034 | 2331 | c.147 others(2348): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2324): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0099 | 1 | 2 | 0.5000 | 2331 | c.126 others(2348): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FRA10AC1_chr10_93662883_93707592 | 93702516 | A | ACCGCCGC others(2324): Show |
5_prime_UTR_variant | MODIFIER | HG02300.hp1 | a0004 | a0004c0004 | a0004c0004t0022 | a0004c0004t0022g0062 | 1 | 362 | 0.0028 | 2331 | c.-14 others(2340): Show |
FRA10AC1 | ENSG00000148690.12 | transcript | ENST00000359204.5 | protein_coding | 1/14 | 2411 | chr10 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399457 | C | CCACCATC others(2324): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0143 | 1 | 258 | 0.0039 | 2331 | c.-25 others(2348): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120443 | T | TGGAAATG others(2324): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0346 | 1 | 230 | 0.0043 | 2331 | c.353 others(2346): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120443 | T | TGGAAATG others(2324): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0230 | 1 | 230 | 0.0043 | 2331 | c.353 others(2346): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120443 | T | TGGAAATG others(2324): Show |
intron_variant | MODIFIER | HG03017.hp2 NA19088.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003 | a0002c0003t0001g0203 a0002c0003t0003g0225 |
2 | 231 | 0.0087 | 2331 | c.353 others(2346): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507256 | G | GGGGGGGT others(2324): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 198 | 0.0051 | 2331 | c.624 others(2348): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876946 | T | TGGAGGTT others(2324): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 175 | 0.0057 | 2331 | c.224 others(2350): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877171 | G | GGGAAGTT others(2324): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0191 | 1 | 214 | 0.0047 | 2331 | c.224 others(2350): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2324): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0007 | a0007c0023 | a0007c0023t0012 | a0007c0023t0012g0023 | 1 | 2 | 0.5000 | 2331 | c.801 others(2348): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2324): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0176 | 1 | 2 | 0.5000 | 2331 | c.801 others(2348): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2324): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0007 | a0007c0023 | a0007c0023t0012 | a0007c0023t0012g0022 | 1 | 2 | 0.5000 | 2331 | c.801 others(2348): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2324): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0008 | a0001c0008t0020 | a0001c0008t0020g0175 | 1 | 2 | 0.5000 | 2331 | c.801 others(2348): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2324): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0009 | a0009c0016 | a0009c0016t0007 | a0009c0016t0007g0003 | 1 | 2 | 0.5000 | 2331 | c.801 others(2348): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 100796 | T | TAATCCAT others(2324): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0051 | a0001c0051t0066 | a0001c0051t0066g0147 | 1 | 203 | 0.0049 | 2331 | c.45+ others(2346): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(2324): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0273 | 1 | 278 | 0.0036 | 2331 | c.101 others(2348): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2324): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 146 | 0.0068 | 2331 | c.114 others(2348): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
EDRF1_chr10_125714709_125769139 | 125731795 | A | ATTGAGTG others(2325): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 312 | 0.0032 | 2332 | c.112 others(2351): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(2325): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 64 | 0.0156 | 2332 | c.107 others(2351): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218132 | A | ACCCCCAA others(2325): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 73 | 0.0137 | 2332 | c.*26 others(2343): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 963 | chr8 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997432 | G | GGGGGCGG others(2325): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0331 | 1 | 370 | 0.0027 | 2332 | c.-20 others(2343): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 238 | chr6 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2325): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 106 | 0.0094 | 2332 | c.353 others(2349): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149358 | C | CACCACAC others(2325): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 221 | 0.0045 | 2332 | c.901 others(2347): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150131 | C | CGCCGCCT others(2325): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 274 | 0.0036 | 2332 | c.902 others(2347): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150672 | A | ACACCACA others(2325): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 236 | 0.0042 | 2332 | c.902 others(2347): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811333 | C | CTCCCTTC others(2325): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0076 | 1 | 139 | 0.0072 | 2332 | c.773 others(2347): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGAG others(2325): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0059 | a0059c0094 | a0059c0094t0001 | a0059c0094t0001g0162 | 1 | 2 | 0.5000 | 2332 | c.801 others(2349): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2325): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 2 | 0.5000 | 2332 | c.801 others(2349): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2325): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0052 | a0052c0119 | a0052c0119t0008 | a0052c0119t0008g0155 | 1 | 2 | 0.5000 | 2332 | c.801 others(2349): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 101933 | T | CCTGTAGG others(2325): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0009 | a0009c0014 | a0009c0014t0043 | a0009c0014t0043g0201 | 1 | 178 | 0.0056 | 2332 | c.45+ others(2347): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | chr5 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2326): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0250 | 1 | 50 | 0.0200 | 2333 | c.147 others(2350): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82972644 | C | GACCACAC others(2326): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0256 | 1 | 252 | 0.0040 | 2333 | c.460 others(2350): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132895979 | C | CCACATGA others(2326): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03130.hp2 NA20300.hp1 |
a0008a0009 | a0008c0009a0009c0018 | a0008c0009t0001a0009c0018t0001 | a0008c0009t0001g0122 a0008c0009t0001g0124 a0009c0018t0001g0228 |
3 | 213 | 0.0141 | 2333 | c.321 others(2352): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | |||||||
EDRF1_chr10_125714709_125769139 | 125731795 | A | ATTGAGTG others(2326): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 3 | 314 | 0.0096 | 2333 | c.112 others(2352): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EDRF1_chr10_125714709_125769139 | 125731795 | A | ATTGAGTG others(2326): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 312 | 0.0032 | 2333 | c.112 others(2352): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120026 | G | GGGAGGAG others(2326): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG03516.hp1 |
a0001a0006 | a0001c0009a0006c0010 | a0001c0009t0006a0006c0010t0006 | a0001c0009t0006g0295 a0001c0009t0006g0296 a0006c0010t0006g0297 |
3 | 360 | 0.0083 | 2333 | c.353 others(2350): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | chr22 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120035 | A | AGGAGAGG others(2326): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0337 | 1 | 334 | 0.0030 | 2333 | c.353 others(2350): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349742 | G | GGTGGGGG others(2326): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0099 | a0099c0067 | a0099c0067t0001 | a0099c0067t0001g0010 | 1 | 170 | 0.0059 | 2333 | c.956 others(2350): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2326): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 4 | 0.2500 | 2333 | c.515 others(2350): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar |