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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNG13_chr16_793041_805734 | 795580 | G | GCCGCCCC others(18): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 NA18994.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0014 | a0001c0001t0002g0002a0001c0002t0014g0054 | 2 | 422 | 0.0047 | 25 | c.*31 others(36): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2460 | chr16 | TogoVar | ||||||
GNG2_chr14_51855612_51974795 | 51906757 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0035 | 1 | 380 | 0.0026 | 25 | c.-30 others(44): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GNG2_chr14_51855612_51974795 | 51942589 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0089a0001c0001t0010g0126 | 2 | 380 | 0.0053 | 25 | c.-29 others(42): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GNG7_chr19_2506219_2707694 | 2525971 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0099 | 1 | 206 | 0.0049 | 25 | c.-37 others(42): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2639734 | A | AGAAGGAG others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(130): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0033a0001c0001t0001g0057a0001c0001t0001g0075others(130): Show | 133 | 206 | 0.6456 | 25 | c.-78 others(42): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2655859 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0016 | 1 | 206 | 0.0049 | 25 | c.-13 others(44): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2661302 | G | GAAAGAAA others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0186 | 1 | 206 | 0.0049 | 25 | c.-13 others(46): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
GNL3L_chrX_54525219_54572289 | 54563702 | C | CTTGAGCC others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0048a0001c0001t0049others(1): Show | a0001c0001t0034g0032a0001c0001t0048g0034a0001c0001t0049g0035others(1): Show | 4 | 277 | 0.0144 | 25 | c.*31 others(36): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 16/16 | 3133 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
GNPDA1_chr5_141995671_142018027 | 142014669 | A | ATGGAGTC others(18): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(209): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(92): Show | 212 | 423 | 0.5012 | 25 | c.-16 others(36): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 1643 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142014679 | G | GCTCTGTT others(18): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0101others(5): Show | 8 | 423 | 0.0189 | 25 | c.-16 others(36): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 1653 | chr5 | TogoVar | ||||||
GNPTAB_chr12_101740499_101835959 | 101824433 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG02698.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0003t0003others(1): Show | a0001c0001t0003g0248a0001c0001t0006g0253a0001c0003t0003g0136others(6): Show | 9 | 392 | 0.0230 | 25 | c.117 others(42): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132767615 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0144 | 1 | 308 | 0.0033 | 25 | c.*54 others(36): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 1298 | chr12 | TogoVar | ||||||
GOLGA4_chr3_37238271_37371879 | 37362780 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 272 | 0.0037 | 25 | c.*33 others(42): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GOLGA7_chr8_41485582_41515980 | 41513356 | C | CGCACCCG others(18): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 350 | 0.0029 | 25 | c.*37 others(36): Show |
GOLGA7 | ENSG00000147533.19 | transcript | ENST00000357743.9 | protein_coding | 2377 | chr8 | TogoVar | ||||||
GOLGA8A_chr15_34374068_34442808 | 34375595 | T | TATATATA others(18): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0136 | 1 | 245 | 0.0041 | 25 | c.*58 others(36): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 3472 | chr15 | TogoVar | ||||||
GOLGA8N_chr15_32588456_32612237 | 32608181 | T | TTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0036 | a0036c0040 | a0036c0040t0027 | a0036c0040t0027g0163 | 1 | 286 | 0.0035 | 25 | c.*42 others(36): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 945 | chr15 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86088457 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18968.hp2 NA18973.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0055a0001c0003t0002g0097a0001c0004t0002g0078 | 3 | 314 | 0.0096 | 25 | c.-21 others(42): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
GON4L_chr1_155744659_155862214 | 155786944 | C | CGGAGTCT others(18): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02615.hp1 others(11): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0035others(11): Show | 14 | 218 | 0.0642 | 25 | c.174 others(44): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 12/31 | chr1 | TogoVar | ||||||
GON4L_chr1_155744659_155862214 | 155809514 | T | TAATTATA others(18): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 218 | 0.0046 | 25 | c.145 others(44): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | ||||||
GON4L_chr1_155744659_155862214 | 155809542 | T | TTATATAC others(18): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 HG03098.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0003c0004t0003 | a0001c0001t0005g0019a0003c0004t0003g0179a0003c0004t0003g0180others(3): Show | 6 | 218 | 0.0275 | 25 | c.145 others(44): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | ||||||
GOSR2_chr17_46918160_46947020 | 46933631 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03017.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0120a0001c0001t0010g0037 | 3 | 412 | 0.0073 | 25 | c.337 others(42): Show |
GOSR2 | ENSG00000108433.17 | transcript | ENST00000640051.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GPAT4_chr8_41573200_41630001 | 41574454 | A | ATTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 NA19012.hp2 NA19074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010a0001c0001t0005g0021a0001c0001t0005g0022others(1): Show | 5 | 410 | 0.0122 | 25 | c.-46 others(36): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 3745 | chr8 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 326 | 0.0031 | 25 | c.46- others(40): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03654.hp2 NA19077.hp2 |
a0001a0003 | a0001c0002a0001c0004a0003c0006 | a0001c0002t0001a0001c0004t0001a0003c0006t0001 | a0001c0002t0001g0227a0001c0004t0001g0238a0003c0006t0001g0239 | 3 | 326 | 0.0092 | 25 | c.46- others(40): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0290 | 1 | 326 | 0.0031 | 25 | c.46- others(40): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0281 | 1 | 326 | 0.0031 | 25 | c.46- others(40): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57229941 | G | GCGTCCCG others(18): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01934.hp2 HG02055.hp1 others(16): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0015others(2): Show | a0001c0001t0002g0132a0001c0001t0002g0133a0001c0001t0002g0134others(16): Show | 19 | 290 | 0.0655 | 25 | c.64- others(38): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GPC3_chrX_133530745_133990594 | 133842362 | A | ATATATTA others(18): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02717.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0066a0001c0001t0001g0120a0001c0001t0001g0122others(1): Show | 4 | 152 | 0.0263 | 25 | c.338 others(44): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 2/7 | chrX | TogoVar | ||||||
GPC4_chrX_133295103_133420489 | 133350896 | C | CTCCCCAT others(18): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 221 | 0.0045 | 25 | c.161 others(44): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 1/8 | chrX | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 91621761 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02922.hp1 HG03579.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0002 | a0001c0001t0001g0033a0001c0001t0002g0009a0001c0001t0002g0014others(2): Show | 5 | 42 | 0.1191 | 25 | c.326 others(44): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92031736 | T | TTATATAT others(18): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 42 | 0.0238 | 25 | c.140 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92031752 | T | TATTACAT others(18): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 42 | 0.0238 | 25 | c.140 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 6/7 | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92031792 | T | TTATATAT others(18): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 42 | 0.0238 | 25 | c.140 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92257546 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 42 | 0.0238 | 25 | c.156 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92398428 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0035 | 1 | 42 | 0.0238 | 25 | c.156 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92421698 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 42 | 0.0238 | 25 | c.156 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92692754 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0006a0003c0003t0001g0001 | 2 | 42 | 0.0476 | 25 | c.156 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92704864 | G | GTATATAT others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 42 | 0.0238 | 25 | c.156 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPC6_chr13_93221807_94413020 | 93995161 | C | CTATTTTA others(18): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0059 | 1 | 76 | 0.0132 | 25 | c.712 others(44): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPCPD1_chr20_5539439_5616006 | 5540505 | T | TTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0004 | a0001c0004t0039 | a0001c0004t0039g0295 | 1 | 386 | 0.0026 | 25 | c.*71 others(36): Show |
GPCPD1 | ENSG00000125772.14 | transcript | ENST00000379019.7 | protein_coding | 3933 | chr20 | TogoVar | ||||||
GPCPD1_chr20_5539439_5616006 | 5568230 | G | GTATATAT others(18): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 386 | 0.0026 | 25 | c.115 others(42): Show |
GPCPD1 | ENSG00000125772.14 | transcript | ENST00000379019.7 | protein_coding | 12/19 | chr20 | TogoVar | ||||||
GPD1L_chr3_32101620_32173709 | 32165387 | T | TTTGTGGT others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(223): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(207): Show | 226 | 360 | 0.6278 | 25 | c.960 others(40): Show |
GPD1L | ENSG00000152642.11 | transcript | ENST00000282541.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GPD1_chr12_50099008_50116313 | 50112907 | C | CGTTATGT others(18): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 NA18981.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 3 | 406 | 0.0074 | 25 | c.*33 others(36): Show |
GPD1 | ENSG00000167588.13 | transcript | ENST00000301149.8 | protein_coding | 1595 | chr12 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 67070715 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 234 | 0.0043 | 25 | c.114 others(46): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPHN_chr14_66503147_67186803 | 67070715 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0202 | 2 | 234 | 0.0086 | 25 | c.114 others(46): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPHN_chr14_66503147_67186803 | 67070715 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0129a0001c0001t0001g0174 | 3 | 234 | 0.0128 | 25 | c.114 others(46): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPHN_chr14_66503147_67186803 | 67070715 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0029a0001c0001t0001g0140a0001c0001t0001g0141others(10): Show | 13 | 234 | 0.0556 | 25 | c.114 others(46): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPHN_chr14_66503147_67186803 | 67070715 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19066.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0209a0001c0001t0001g0214a0001c0001t0010g0206 | 3 | 234 | 0.0128 | 25 | c.114 others(46): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPIHBP1_chr8_143208218_143222170 | 143218132 | A | ACCCCCAC others(18): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 25 | c.*26 others(36): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 963 | chr8 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218216 | A | ACCCACAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02965.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 3 | 106 | 0.0283 | 25 | c.*26 others(36): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1047 | chr8 | TogoVar |