| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SPIRE1_chr18_12441512_12663107 | 12503664 | TGGAAGCT others(708): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01192.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0004 | a0001c0001t0002g0014a0001c0001t0002g0015a0001c0001t0002g0016others(16): Show | 19 | 328 | 0.0579 | -715 | c.972 others(17): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 6/16 | chr18 | TogoVar | ||||||
| UNKL_chr16_1358205_1419704 | 1373099 | ACACACCA others(708): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0014 | a0001c0014t0030 | a0001c0014t0030g0012 | 1 | 322 | 0.0031 | -715 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 506357 | AGGGTCAG others(708): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(47): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0030others(30): Show | a0001c0001t0002g0121a0001c0001t0002g0128a0001c0001t0002g0133others(47): Show | 50 | 232 | 0.2155 | -715 | c.*12 others(13): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 2310 | chr17 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89429144 | GCGCTCAG others(707): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG03139.hp2 NA21309.hp1 |
a0002a0018a0031 | a0002c0002a0018c0046a0031c0052 | a0002c0002t0010a0018c0046t0002a0031c0052t0003 | a0002c0002t0010g0121a0018c0046t0002g0125a0031c0052t0003g0120 | 3 | 310 | 0.0097 | -714 | c.-14 others(21): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89429172 | GATTCTCA others(707): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(128): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0006a0001c0007others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(29): Show | a0001c0001t0001g0015a0001c0001t0001g0027a0001c0001t0001g0042others(128): Show | 131 | 310 | 0.4226 | -714 | c.-14 others(21): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144624784 | CCACTGCA others(707): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228a0001c0001t0001g0229a0001c0001t0001g0232 | 3 | 246 | 0.0122 | -714 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89647518 | ATGGAGAC others(707): Show |
A | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0190 | 1 | 392 | 0.0026 | -714 | c.253 others(15): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89647572 | TGCGGGGT others(707): Show |
T | intron_variant | MODIFIER | HG02040.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237a0001c0001t0002g0250 | 2 | 392 | 0.0051 | -714 | c.253 others(15): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89647648 | GGACCCAG others(707): Show |
G | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 392 | 0.0026 | -714 | c.252 others(15): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CRAMP1_chr16_1607360_1682908 | 1636894 | TGCCCAAA others(707): Show |
T | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 332 | 0.0030 | -714 | c.695 others(15): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(707): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG03540.hp2 NA18948.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0184a0001c0001t0001g0241a0001c0003t0001g0206 | 3 | 350 | 0.0086 | -714 | c.*24 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186553 | GACACGGG others(707): Show |
G | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0337 | 1 | 350 | 0.0029 | -714 | c.*19 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2436 | chr16 | TogoVar | ||||||
| NTRK2_chr9_84664729_85032054 | 84737692 | CGTGGGTC others(707): Show |
C | intron_variant | MODIFIER | HG03139.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0026 | a0001c0001t0006g0003a0001c0001t0026g0153 | 2 | 170 | 0.0118 | -714 | c.116 others(19): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3685648 | GCGTCCCC others(707): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 362 | 0.0028 | -714 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| PROZ_chr13_113153648_113177386 | 113161928 | CCCCATCC others(707): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 378 | 0.0027 | -714 | c.259 others(15): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129088835 | ATGTCCTC others(707): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0026 | a0002c0003t0026g0093 | 1 | 94 | 0.0106 | -714 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105236294 | CGTGGCAC others(706): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 72 | 0.0139 | -713 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105236600 | TGTGGCAC others(706): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 72 | 0.0139 | -713 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675707 | TGAGGACA others(706): Show |
T | intron_variant | MODIFIER | NA18970.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0063 | 2 | 378 | 0.0053 | -713 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132223361 | ACNNNNNN others(706): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0067 | 1 | 183 | 0.0055 | -713 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| IDI1_chr10_1034419_1054119 | 1046857 | CTGTCTGT others(706): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0001g0033others(9): Show | 36 | 438 | 0.0822 | -713 | c.140 others(17): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401738 | CGACCCCG others(706): Show |
C | intron_variant | MODIFIER | HG03471.hp1 NA18906.hp1 NA19240.hp1 others(2): Show |
a0001a0003 | a0001c0004a0001c0008a0003c0014 | a0001c0004t0001a0001c0008t0001a0003c0014t0001 | a0001c0004t0001g0008a0001c0004t0001g0194a0001c0008t0001g0195others(2): Show | 5 | 216 | 0.0232 | -713 | c.173 others(18): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3090826 | ACCTACCT others(706): Show |
A | intron_variant | MODIFIER | NA18970.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298a0001c0001t0002g0299 | 2 | 340 | 0.0059 | -713 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3092621 | CGCGCCTA others(706): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 340 | 0.0029 | -713 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3092869 | CGCGCCTA others(706): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 340 | 0.0029 | -713 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SIGIRR_chr11_400716_419999 | 401738 | CGACCCCG others(706): Show |
C | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 242 | 0.0041 | -713 | c.*34 others(11): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3977 | chr11 | TogoVar | ||||||
| ZNF423_chr16_49482524_49861112 | 49814113 | AGAGCCAG others(706): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0115a0001c0002t0002g0051 | 2 | 196 | 0.0102 | -713 | c.41- others(17): Show |
ZNF423 | ENSG00000102935.12 | transcript | ENST00000563137.7 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288455 | TCCCCCGT others(705): Show |
T | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 295 | 0.0034 | -712 | c.*43 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3935 | chr1 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288625 | TCCCCCGT others(705): Show |
T | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 295 | 0.0034 | -712 | c.*42 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3765 | chr1 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2278546 | AGAGGGAG others(705): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 50 | 0.0200 | -712 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137567694 | ACTCTGTC others(705): Show |
A | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 340 | 0.0029 | -712 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1087007 | GTTGTTGT others(705): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0017 | a0001c0001t0019g0120a0002c0002t0017g0097 | 2 | 162 | 0.0124 | -712 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| GRTP1_chr13_113319163_113369130 | 113346235 | CGGGAGGA others(705): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 288 | 0.0035 | -712 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346353 | CAGGAGGA others(705): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0015 | 2 | 288 | 0.0069 | -712 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346354 | AGGAGGAC others(705): Show |
A | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 288 | 0.0035 | -712 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| HECW1_chr7_43107647_43571001 | 43181064 | TTTTAAGA others(705): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005 | 1 | 182 | 0.0055 | -712 | c.-31 others(19): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| IFITM1_chr11_309040_320272 | 309452 | CCAAACGT others(705): Show |
C | upstream_gene_variant | MODIFIER | HG02004.hp2 HG02559.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 34 | 0.0882 | -712 | c.-47 others(11): Show |
IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 4587 | chr11 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 949528 | CGACAGAG others(705): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0244 | 1 | 294 | 0.0034 | -712 | c.503 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| STAU1_chr20_49108339_49193334 | 49125855 | ATGAAATT others(705): Show |
A | intron_variant | MODIFIER | HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176a0001c0001t0001g0177 | 2 | 366 | 0.0055 | -712 | c.610 others(17): Show |
STAU1 | ENSG00000124214.21 | transcript | ENST00000371856.7 | protein_coding | 6/13 | chr20 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133817401 | CCAGCACT others(705): Show |
C | intron_variant | MODIFIER | HG02897.hp1 HG03041.hp1 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0057a0001c0006t0002g0081 | 2 | 200 | 0.0100 | -712 | c.450 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| ZDHHC19_chr3_196192452_196216400 | 196200605 | TGGCCTCC others(705): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0166 | 1 | 442 | 0.0023 | -712 | c.688 others(17): Show |
ZDHHC19 | ENSG00000163958.14 | transcript | ENST00000296326.8 | protein_coding | 5/7 | chr3 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1431532 | CGGTCTGG others(704): Show |
C | intron_variant | MODIFIER | HG00438.hp1 NA18995.hp2 NA18999.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0033 | a0002c0002t0002g0075a0002c0002t0002g0086a0002c0002t0005g0005others(1): Show | 5 | 360 | 0.0139 | -711 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ERICH1_chr8_659200_736224 | 675679 | GTGAGGAC others(704): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268a0001c0001t0002g0269a0001c0001t0002g0280 | 3 | 378 | 0.0079 | -711 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| HECW1_chr7_43107647_43571001 | 43181065 | TTTAAGAT others(704): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02647.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0030a0001c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0100a0001c0001t0030g0098others(2): Show | 5 | 182 | 0.0275 | -711 | c.-31 others(19): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LOC102725191_chr7_12499441_12546270 | 12527001 | CTGAAATG others(704): Show |
C | intron_variant | MODIFIER | HG02109.hp1 NA18522.hp2 |
a0005 | a0005c0006a0005c0010 | a0005c0006t0002a0005c0010t0001 | a0005c0006t0002g0302a0005c0010t0001g0303 | 2 | 422 | 0.0047 | -711 | c.544 others(17): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PRKCA_chr17_66297613_66815743 | 66798503 | GTGGTGAC others(704): Show |
G | intron_variant | MODIFIER | HG02004.hp1 NA18983.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0042a0001c0002t0008g0005 | 2 | 178 | 0.0112 | -711 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| STAU1_chr20_49108339_49193334 | 49125855 | ATGAAATT others(704): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 366 | 0.0027 | -711 | c.610 others(17): Show |
STAU1 | ENSG00000124214.21 | transcript | ENST00000371856.7 | protein_coding | 6/13 | chr20 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237995 | CCCCCTGC others(703): Show |
C | intron_variant | MODIFIER | NA18989.hp1 NA18989.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0035a0002c0002t0062 | a0001c0001t0035g0079a0002c0002t0062g0093 | 2 | 106 | 0.0189 | -710 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137566190 | TCTGTCTG others(703): Show |
T | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 340 | 0.0029 | -710 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| HECW1_chr7_43107647_43571001 | 43181066 | TTAAGATT others(703): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 182 | 0.0055 | -710 | c.-31 others(19): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |