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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ART1_chr11_3640128_3669416 | 3654590 | T | TTGTAAAT others(4969): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0046 | 2 | 394 | 0.0051 | 4976 | c.-52 others(4993): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACCC others(4969): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 183 | 0.0055 | 4976 | c.107 others(4995): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183149786 | C | CTCCTCCT others(4969): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0221 | 1 | 308 | 0.0033 | 4976 | c.*69 others(4987): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4195 | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431841 | T | TAGGGTGG others(4970): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0034 | 1 | 376 | 0.0027 | 4977 | c.101 others(4996): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(4971): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 342 | 0.0029 | 4978 | c.366 others(4995): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(4971): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 290 | 0.0035 | 4978 | c.129 others(4997): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4972): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 390 | 0.0026 | 4979 | c.109 others(4994): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4973): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0253 | 1 | 390 | 0.0026 | 4980 | c.109 others(4995): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364497 | C | CCTTACAT others(4973): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 290 | 0.0035 | 4980 | c.129 others(4997): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4976): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 251 | 0.0040 | 4983 | c.-45 others(4992): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200727 | G | GACTGTCG others(4977): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0126 | 1 | 298 | 0.0034 | 4984 | c.955 others(5001): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 273511 | G | GAGGGCGA others(4977): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 133 | 0.0075 | 4984 | c.438 others(5001): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273576 | G | GTCAGGGA others(4977): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 133 | 0.0075 | 4984 | c.438 others(5001): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 412565 | G | GGGGGGGG others(4983): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 242 | 0.0041 | 4990 | c.-15 others(5009): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4984): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 279 | 0.0036 | 4991 | c.215 others(5008): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AFAP1_chr4_7753714_7944861 | 7864117 | C | CCATTCCC others(4985): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0162 | 1 | 318 | 0.0031 | 4992 | c.225 others(5009): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4987): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0175 | 1 | 251 | 0.0040 | 4994 | c.-45 others(5003): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(4987): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 178 | 0.0056 | 4994 | c.773 others(5009): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(4988): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0006 | a0006c0020 | a0006c0020t0002 | a0006c0020t0002g0089 | 1 | 376 | 0.0027 | 4995 | c.101 others(5012): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCAC others(4989): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0271 | 1 | 290 | 0.0035 | 4996 | c.129 others(5013): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4990): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 370 | 0.0027 | 4997 | c.891 others(5012): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111877 | C | CACCTGCC others(4991): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0347 | 1 | 368 | 0.0027 | 4998 | c.401 others(5015): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BRF1_chr14_105204286_105306001 | 105239353 | C | CGTGGCAC others(4991): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 72 | 0.0139 | 4998 | c.694 others(5015): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(4992): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0279 | 1 | 298 | 0.0034 | 4999 | c.955 others(5016): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(4992): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 50 | 0.0200 | 4999 | c.287 others(5018): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432184 | A | AGGGTGGA others(4992): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0188 | 1 | 376 | 0.0027 | 4999 | c.101 others(5016): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |