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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLB1L3_chr11_134271379_134324564 | 134308489 | T | TCACCACC others(412): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0278 | 1 | 422 | 0.0024 | 419 | c.962 others(436): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GMDS_chr6_1618806_2250605 | 1652420 | A | ATATATTT others(412): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 166 | 0.0060 | 419 | c.988 others(438): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
GPATCH2_chr1_217421992_217636090 | 217524926 | G | GGGAGAGG others(412): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 188 | 0.0053 | 419 | c.109 others(440): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53074425 | T | TATATATT others(412): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0184 | 1 | 208 | 0.0048 | 419 | c.-97 others(436): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GPR89B_chr1_147923420_147998592 | 147949447 | C | CCCACCTC others(412): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0237 | 1 | 274 | 0.0037 | 419 | c.416 others(436): Show |
GPR89B | ENSG00000188092.15 | transcript | ENST00000314163.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GPR89B_chr1_147923420_147998592 | 147949447 | C | CCCACCTC others(412): Show |
intron_variant | MODIFIER | HG01934.hp2 NA20129.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0235a0001c0003t0003g0236 | 2 | 274 | 0.0073 | 419 | c.416 others(436): Show |
GPR89B | ENSG00000188092.15 | transcript | ENST00000314163.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
JPH2_chr20_44101590_44192188 | 44132796 | A | ACCCCCAC others(412): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0007 | a0001c0007t0028 | a0001c0007t0028g0287 | 1 | 338 | 0.0030 | 419 | c.117 others(440): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44132796 | A | ACCCCCAC others(412): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0011 | 1 | 338 | 0.0030 | 419 | c.117 others(440): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44132805 | G | GTCCCCCT others(412): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0054 | 1 | 338 | 0.0030 | 419 | c.117 others(440): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1969684 | T | TATAAATA others(412): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG02622.hp1 |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0004a0006c0011t0043 | a0001c0001t0004g0294a0006c0011t0043g0122 | 2 | 389 | 0.0051 | 419 | c.-51 others(430): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 3992 | chr8 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209560 | A | ATATATAT others(412): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0116 | 1 | 260 | 0.0039 | 419 | c.963 others(438): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215209590 | T | TATATAAA others(412): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0165 | 1 | 260 | 0.0039 | 419 | c.963 others(438): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215209590 | T | TATATAAA others(412): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02155.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0164a0001c0001t0004g0166a0001c0001t0007g0074others(1): Show | 4 | 260 | 0.0154 | 419 | c.963 others(438): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215209590 | T | TATATAAA others(412): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02083.hp1 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0042others(1): Show | a0001c0001t0004g0119a0001c0001t0004g0161a0001c0001t0004g0200others(3): Show | 6 | 260 | 0.0231 | 419 | c.963 others(438): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(412): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 316 | 0.0032 | 419 | c.583 others(434): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(412): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 316 | 0.0032 | 419 | c.583 others(434): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360517 | G | GGGTGGAG others(412): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0132 | a0003c0132t0001 | a0003c0132t0001g0052 | 1 | 186 | 0.0054 | 419 | c.450 others(436): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859587 | T | TCGAGACG others(412): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 294 | 0.0034 | 419 | c.153 others(438): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LRRC14_chr8_144512992_144530172 | 144513791 | C | CGTGGGAG others(412): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 414 | 0.0024 | 419 | c.-43 others(430): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4200 | chr8 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478087 | A | AGAGGGGG others(412): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0016 | a0002c0016t0004 | a0002c0016t0004g0014 | 1 | 163 | 0.0061 | 419 | c.525 others(436): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 163894956 | T | TATATATA others(412): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 102 | 0.0098 | 419 | c.-38 others(438): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735534 | T | TAAAAAAA others(412): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01891.hp1 HG01928.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0044a0001c0001t0001g0045others(4): Show | 14 | 390 | 0.0359 | 419 | c.112 others(436): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
METTL25B_chr1_156723469_156741960 | 156735534 | T | TAAAAAAA others(412): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG02717.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0004t0001others(2): Show | a0001c0001t0002g0024a0001c0001t0002g0025a0001c0001t0002g0142others(8): Show | 15 | 390 | 0.0385 | 419 | c.112 others(436): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
METTL25B_chr1_156723469_156741960 | 156735534 | T | TAAAAAAA others(412): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 390 | 0.0026 | 419 | c.112 others(436): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MRPL24_chr1_156732303_156746088 | 156735534 | T | TAAAAAAA others(412): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG01891.hp1 HG01928.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0002g0002a0001c0001t0002g0017 | 14 | 364 | 0.0385 | 419 | c.*18 others(430): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1768 | chr1 | TogoVar | ||||||
MRPL24_chr1_156732303_156746088 | 156735534 | T | TAAAAAAA others(412): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG02717.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0009others(3): Show | 13 | 364 | 0.0357 | 419 | c.*18 others(430): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1768 | chr1 | TogoVar | ||||||
MRPL24_chr1_156732303_156746088 | 156735534 | T | TAAAAAAA others(412): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 364 | 0.0028 | 419 | c.*18 others(430): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1768 | chr1 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(412): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 384 | 0.0026 | 419 | c.160 others(436): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(412): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 350 | 0.0029 | 419 | c.-28 others(430): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
NDUFA3_chr19_54097855_54112568 | 54109796 | C | CCTCCACC others(412): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 439 | 0.0023 | 419 | c.*28 others(430): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2229 | chr19 | TogoVar | ||||||
NDUFA3_chr19_54097855_54112568 | 54109796 | C | CCTCCACC others(412): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0072a0001c0001t0001g0074others(1): Show | 4 | 439 | 0.0091 | 419 | c.*28 others(430): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2229 | chr19 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993508 | C | CCCCCCCT others(412): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0000 | a0000c0015 | a0000c0015t0006 | a0000c0015t0006g0179 | 1 | 350 | 0.0029 | 419 | c.*55 others(430): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535562 | G | GGTGGGTG others(412): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 324 | 0.0031 | 419 | c.140 others(436): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132070246 | A | AGTTAACA others(412): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 86 | 0.0116 | 419 | c.168 others(438): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
OGFOD3_chr17_82384210_82423586 | 82386007 | C | CGGGGAGG others(412): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0146 | 1 | 348 | 0.0029 | 419 | c.*63 others(430): Show |
OGFOD3 | ENSG00000181396.13 | transcript | ENST00000313056.10 | protein_coding | 3202 | chr17 | TogoVar | ||||||
OGFR_chr20_62799835_62819000 | 62800016 | G | GGTGGGGG others(412): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0130 | 1 | 422 | 0.0024 | 419 | c.-48 others(430): Show |
OGFR | ENSG00000060491.17 | transcript | ENST00000290291.10 | protein_coding | 4818 | chr20 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741280 | G | GGGGGGCT others(412): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0220 | 1 | 358 | 0.0028 | 419 | c.143 others(434): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PIMREG_chr17_6439455_6456469 | 6455713 | G | GGGGGAAG others(412): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | 419 | c.*53 others(430): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4245 | chr17 | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 291604 | G | GGAGGGGG others(412): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02895.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0079a0001c0001t0001g0080a0002c0002t0001g0027others(1): Show | 4 | 354 | 0.0113 | 419 | c.-26 others(428): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 202 | chr19 | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 291613 | G | GGGGGGGA others(412): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 354 | 0.0028 | 419 | c.-27 others(428): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 211 | chr19 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81642703 | T | TGTATCTA others(412): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 168 | 0.0060 | 419 | c.303 others(438): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597791 | T | TACGATAA others(412): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0120 | 1 | 220 | 0.0046 | 419 | c.24+ others(436): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(412): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 318 | 0.0031 | 419 | c.*36 others(430): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(412): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 318 | 0.0031 | 419 | c.*36 others(430): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(412): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0024 | 2 | 318 | 0.0063 | 419 | c.*36 others(430): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(412): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01433.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009 | 3 | 318 | 0.0094 | 419 | c.*36 others(430): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(412): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 318 | 0.0031 | 419 | c.*36 others(430): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(412): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 318 | 0.0031 | 419 | c.*36 others(430): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(412): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 318 | 0.0031 | 419 | c.*36 others(430): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(412): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 318 | 0.0031 | 419 | c.*36 others(430): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar |