| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| USP32_chr17_60172327_60397133 | 60334647 | GCGCCACT others(2017): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG03540.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0061a0001c0004t0005g0062 | 2 | 152 | 0.0132 | -2024 | c.186 others(18): Show |
USP32 | ENSG00000170832.13 | transcript | ENST00000300896.9 | protein_coding | 2/33 | chr17 | TogoVar | |||||||
| ADAMTS19_chr5_129455298_129743683 | 129588766 | TTATTAAG others(2016): Show |
T | intron_variant | MODIFIER | NA19000.hp2 NA19081.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0213a0001c0003t0001g0214 | 2 | 226 | 0.0089 | -2023 | c.137 others(19): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CXorf51A_chrX_146809106_146819744 | 146810073 | CAAAACCA others(2016): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 264 | 0.0038 | -2023 | c.*21 others(11): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 4032 | chrX | TogoVar | |||||||
| CXorf51B_chrX_146804771_146815411 | 146810073 | CAAAACCA others(2016): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG06807.hp2 | a0000 | a0000c0006 | a0000c0006t0002 | a0000c0006t0002g0006 | 1 | 272 | 0.0037 | -2023 | c.133 others(12): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 2/2 | chrX | TogoVar | |||||||
| BACE1_chr11_117280698_117321256 | 117310194 | GCTGCTGA others(2013): Show |
G | intron_variant | MODIFIER | NA18747.hp1 NA18966.hp1 NA18969.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0043a0001c0002t0001g0024 | 5 | 400 | 0.0125 | -2020 | c.261 others(17): Show |
BACE1 | ENSG00000186318.18 | transcript | ENST00000313005.11 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
| KCTD1_chr18_26449910_26553553 | 26450445 | TAAACAGG others(2013): Show |
T | downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 338 | 0.0030 | -2020 | c.*32 others(11): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 4464 | chr18 | TogoVar | |||||||
| ACBD6_chr1_180283230_180507577 | 180349299 | GCCCAGGC others(2009): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 334 | 0.0030 | -2016 | c.664 others(19): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
| ADPRHL1_chr13_113394611_113458488 | 113434899 | TGTAGAGT others(2009): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG01358.hp1 others(3): Show |
a0001a0002a0039 | a0001c0001a0002c0002a0039c0038 | a0001c0001t0001a0001c0001t0007a0002c0002t0082others(1): Show | a0001c0001t0001g0052a0001c0001t0001g0054a0001c0001t0001g0186others(3): Show | 6 | 262 | 0.0229 | -2016 | c.380 others(17): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
| DHRS4L2_chr14_23983929_24011403 | 24001948 | TTTCCTCT others(2008): Show |
T | intron_variant | MODIFIER | HG01256.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1 |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0001a0002c0002t0002a0004c0003t0002 | a0002c0002t0001g0002a0002c0002t0002g0003a0004c0003t0002g0001 | 3 | 32 | 0.0938 | -2015 | c.665 others(15): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| NRG2_chr5_139841781_140048299 | 139988021 | GCCTCGGC others(2007): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0165 | 2 | 188 | 0.0106 | -2014 | c.700 others(19): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
| VPS13B_chr8_99008274_99882580 | 99593624 | ACTATTCA others(2006): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0122 | 1 | 134 | 0.0075 | -2013 | c.522 others(21): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| OR2W3_chr1_247890587_247901531 | 247892317 | TACATTTA others(2005): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(61): Show |
a0000a0001a0002others(8): Show | a0000c0005a0001c0002a0001c0003others(10): Show | a0000c0005t0000a0001c0002t0000a0001c0003t0000others(10): Show | a0000c0005t0000g0000a0001c0002t0000g0000a0001c0003t0000g0000others(10): Show | 64 | 388 | 0.1650 | -2012 | c.-32 others(11): Show |
OR2W3 | ENSG00000238243.3 | transcript | ENST00000360358.3 | protein_coding | 3269 | chr1 | TogoVar | |||||||
| USP17L20_chr4_9253124_9264716 | 9257388 | AAAGACTT others(2004): Show |
A | frameshift_variant others(1): Show |
HIGH | HG02723.hp2 | a0075 | a0075c0112 | a0075c0112t0000 | a0075c0112t0000g0000 | 1 | 234 | 0.0043 | -2011 | c.-73 others(9): Show |
p.Met others(3): Show |
USP17L20 | ENSG00000250745.3 | transcript | ENST00000506151.1 | protein_coding | 1/1 | 1/1593 | 1/530 | chr4 | TogoVar | ||||
| RPH3AL_chr17_207389_357807 | 253984 | CGTCTGTC others(2003): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0097 | 1 | 133 | 0.0075 | -2010 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 254200 | ATCCCTAG others(2003): Show |
A | intron_variant | MODIFIER | NA18995.hp2 NA19005.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0026 | a0001c0001t0002g0029a0001c0004t0026g0013 | 2 | 133 | 0.0150 | -2010 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
| USP17L27_chr4_9339148_9350740 | 9348158 | AAAGACTT others(2003): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0002 | a0004c0002t0000 | a0004c0002t0000g0000 | 1 | 90 | 0.0111 | -2010 | c.*24 others(11): Show |
USP17L27 | ENSG00000235780.3 | transcript | ENST00000515574.1 | protein_coding | 2419 | chr4 | TogoVar | |||||||
| ZNF888_chr19_52899415_52928428 | 52918944 | GAAAAAAA others(2003): Show |
G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(174): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0018others(21): Show | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0062others(148): Show | 177 | 426 | 0.4155 | -2010 | c.-17 others(16): Show |
ZNF888 | ENSG00000213793.6 | transcript | ENST00000638862.2 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805525 | TCCCCCCT others(2002): Show |
T | downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 314 | 0.0032 | -2009 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1239 | chr2 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132231252 | TCCCTAGT others(2002): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 183 | 0.0055 | -2009 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805525 | TCCCCCCT others(2002): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 319 | 0.0031 | -2009 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3667 | chr2 | TogoVar | |||||||
| ZAN_chr7_100728595_100802797 | 100743614 | TGCCTGTA others(2002): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG03225.hp2 |
a0014a0028a0051 | a0014c0068a0028c0069a0051c0063 | a0014c0068t0001a0028c0069t0001a0051c0063t0003 | a0014c0068t0001g0092a0028c0069t0001g0091a0051c0063t0003g0090 | 3 | 308 | 0.0097 | -2009 | c.767 others(16): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ZNF888_chr19_52899415_52928428 | 52918944 | GAAAAAAA others(2002): Show |
G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(117): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(20): Show | a0001c0001t0001g0023a0001c0001t0001g0352a0001c0001t0005g0102others(91): Show | 120 | 426 | 0.2817 | -2009 | c.-17 others(16): Show |
ZNF888 | ENSG00000213793.6 | transcript | ENST00000638862.2 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
| INSR_chr19_7107265_7299414 | 7250890 | CAGGAACG others(2001): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp2 NA20129.hp1 |
a0001 | a0001c0006a0001c0034 | a0001c0006t0016a0001c0006t0051a0001c0034t0093 | a0001c0006t0016g0104a0001c0006t0051g0031a0001c0034t0093g0162 | 3 | 300 | 0.0100 | -2008 | c.652 others(19): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | |||||||
| KRT37_chr17_41415547_41429585 | 41426044 | ATGGTGGT others(2000): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 409 | 0.0073 | -2007 | c.-35 others(11): Show |
KRT37 | ENSG00000108417.4 | transcript | ENST00000225550.4 | protein_coding | 1460 | chr17 | TogoVar | |||||||
| TOR4A_chr9_137272726_137287641 | 137285634 | ATATATAA others(2000): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG02015.hp2 others(15): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0005 | a0001c0001t0005g0001a0003c0003t0005g0004 | 18 | 408 | 0.0441 | -2007 | c.*56 others(11): Show |
TOR4A | ENSG00000198113.3 | transcript | ENST00000357503.3 | protein_coding | 2994 | chr9 | TogoVar | |||||||
| RNF223_chr1_1065967_1079306 | 1076027 | GTTATGGG others(1999): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | -2006 | c.-40 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 1722 | chr1 | TogoVar | |||||||
| WDR70_chr5_37374318_37758435 | 37471229 | CCCTCCTA others(1999): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0030 | 2 | 242 | 0.0083 | -2006 | c.687 others(17): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 7/17 | chr5 | TogoVar | |||||||
| SDHA_chr5_213320_262082 | 258388 | CCCTGCCA others(1998): Show |
C | downstream_gene_variant | MODIFIER | NA18965.hp2 NA19081.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0102a0002c0003t0004g0103 | 2 | 266 | 0.0075 | -2005 | c.*19 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1307 | chr5 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805491 | CCTCAGCC others(1997): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0153 | 1 | 314 | 0.0032 | -2004 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1205 | chr2 | TogoVar | |||||||
| LRRC40_chr1_70139805_70210579 | 70182529 | CTAACAAA others(1995): Show |
C | intron_variant | MODIFIER | NA18964.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239a0001c0001t0002g0266 | 2 | 320 | 0.0063 | -2002 | c.537 others(16): Show |
LRRC40 | ENSG00000066557.6 | transcript | ENST00000370952.4 | protein_coding | 4/14 | chr1 | TogoVar | |||||||
| CBFA2T3_chr16_88869858_88982207 | 88956137 | TGTCAGTT others(1993): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0211 | 1 | 284 | 0.0035 | -2000 | c.151 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
| H4C11_chr6_27819092_27829480 | 27826731 | CCCTCACG others(1993): Show |
C | downstream_gene_variant | MODIFIER | HG02148.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 396 | 0.0025 | -2000 | c.*22 others(11): Show |
H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 2252 | chr6 | TogoVar | |||||||
| H4C12_chr6_27826174_27836560 | 27826731 | CCCTCACG others(1993): Show |
C | downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 419 | 0.0024 | -2000 | c.*24 others(11): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 4442 | chr6 | TogoVar | |||||||
| KIAA1522_chr1_32736830_32779970 | 32760811 | GAACTCCT others(1992): Show |
G | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0246 | 1 | 348 | 0.0029 | -1999 | c.236 others(17): Show |
KIAA1522 | ENSG00000162522.11 | transcript | ENST00000401073.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| GPR39_chr2_132411805_132651582 | 132488843 | TCAGCACC others(1990): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0025 | 1 | 208 | 0.0048 | -1997 | c.856 others(19): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SLC44A5_chr1_75197129_75616114 | 75409676 | ATTGATAT others(1990): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 156 | 0.0064 | -1997 | c.14- others(17): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
| ATP11A_chr13_112685038_112892168 | 112787407 | GTGTAGAC others(1989): Show |
G | intron_variant | MODIFIER | HG00408.hp2 NA18966.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0036 | a0001c0002t0002g0088a0001c0005t0036g0172 | 2 | 254 | 0.0079 | -1996 | c.162 others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| CDK14_chr7_90591321_91215590 | 91118896 | CCATGTCA others(1989): Show |
C | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 168 | 0.0060 | -1996 | c.*28 others(16): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| DOK6_chr18_69395888_69854087 | 69482342 | TTTAAACT others(1989): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0168 | 1 | 170 | 0.0059 | -1996 | c.66+ others(17): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(1988): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0074 | 1 | 185 | 0.0054 | -1995 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
| ASMTL_chrX_1398139_1457909 | 1408229 | GCAGGAGG others(1988): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01123.hp1 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0004others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0001others(10): Show | a0001c0001t0001g0053a0001c0001t0001g0129a0002c0003t0001g0176others(23): Show | 26 | 185 | 0.1405 | -1995 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
| ERC1_chr12_986223_1500931 | 1088904 | GAAAGTGC others(1988): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0130 | 1 | 162 | 0.0062 | -1995 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | |||||||
| LHX4_chr1_180225264_180283984 | 180259322 | AATGCCTG others(1988): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0021a0001c0001t0010g0043a0001c0001t0010g0140others(2): Show | 5 | 402 | 0.0124 | -1995 | c.249 others(17): Show |
LHX4 | ENSG00000121454.6 | transcript | ENST00000263726.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PCSK5_chr9_75885673_76367975 | 76304743 | CATTTTAG others(1988): Show |
C | intron_variant | MODIFIER | HG03486.hp1 HG03516.hp1 NA19030.hp2 |
a0016a0017 | a0016c0028a0017c0027 | a0016c0028t0062a0017c0027t0005a0017c0027t0057 | a0016c0028t0062g0074a0017c0027t0005g0013a0017c0027t0057g0042 | 3 | 166 | 0.0181 | -1995 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238228 | CCCCTCTG others(1987): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0042 | 1 | 106 | 0.0094 | -1994 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1400411 | AGGGTAGT others(1987): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | -1994 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 65550134 | CTACTATA others(1987): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG02451.hp1 HG02451.hp2 others(19): Show |
a0001a0002a0003others(16): Show | a0001c0009a0001c0012a0002c0008others(19): Show | a0001c0009t0001a0001c0012t0002a0002c0008t0002others(19): Show | a0001c0009t0001g0012a0001c0012t0002g0021a0002c0008t0002g0020others(19): Show | 22 | 24 | 0.9167 | -1994 | c.-33 others(21): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | |||||||
| CTXND2_chr1_150882136_150918292 | 150915759 | CGGTGAAA others(1986): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 372 | 0.0027 | -1993 | c.*32 others(11): Show |
CTXND2 | ENSG00000283324.1 | transcript | ENST00000636087.1 | protein_coding | 2468 | chr1 | TogoVar | |||||||
| BCL2L13_chr22_17633757_17735855 | 17643915 | CTTTTTTA others(1985): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0042 | a0001c0002t0012g0003a0001c0002t0012g0004a0001c0002t0012g0305others(2): Show | 5 | 306 | 0.0163 | -1992 | c.-51 others(17): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
| FAM162B_chr6_116747197_116770719 | 116748518 | ATTTCTTA others(1985): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 474 | 0.0021 | -1992 | c.*20 others(11): Show |
FAM162B | ENSG00000183807.8 | transcript | ENST00000368557.6 | protein_coding | 3678 | chr6 | TogoVar |