| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SMOC2_chr6_168436184_168672992 | 168561565 | TGGAGGAG others(773): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0079a0001c0003t0004g0102 | 2 | 180 | 0.0111 | -780 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1106698 | GCGTGCTG others(773): Show |
G | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 HG03471.hp1 |
a0001a0004a0005 | a0001c0002a0004c0014a0005c0006 | a0001c0002t0001a0004c0014t0002a0005c0006t0002 | a0001c0002t0001g0041a0004c0014t0002g0001a0005c0006t0002g0003 | 3 | 190 | 0.0158 | -780 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1106794 | GAGTGGAC others(773): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0020 | a0020c0032 | a0020c0032t0001 | a0020c0032t0001g0059 | 1 | 190 | 0.0053 | -780 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1107782 | TAGTGGAC others(773): Show |
T | intron_variant | MODIFIER | NA18984.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0162 | 1 | 190 | 0.0053 | -780 | c.325 others(18): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| VPS53_chr17_503668_719839 | 505896 | AAGATCAG others(773): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01346.hp2 HG02074.hp1 others(23): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0101a0001c0001t0102a0001c0001t0108others(14): Show | a0001c0001t0101g0200a0001c0001t0102g0220a0001c0001t0108g0148others(23): Show | 26 | 232 | 0.1121 | -780 | c.*12 others(13): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 2771 | chr17 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88954457 | GCCAAGTG others(772): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0008 | a0001c0008t0014 | a0001c0008t0014g0167 | 1 | 284 | 0.0035 | -779 | c.151 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132134793 | CGAGTGTG others(772): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0008 | a0008c0010 | a0008c0010t0012 | a0008c0010t0012g0015 | 1 | 334 | 0.0030 | -779 | c.*37 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1800 | chr12 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2280759 | AGAGGGAG others(772): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0009 | 1 | 50 | 0.0200 | -779 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1024202 | ATTGTCCC others(772): Show |
A | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 319 | 0.0031 | -779 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| POLR3GL_chr1_145959690_145983848 | 145971081 | CAGGCTGA others(772): Show |
C | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 372 | 0.0027 | -779 | c.-41 others(17): Show |
POLR3GL | ENSG00000121851.13 | transcript | ENST00000369314.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TAFA5_chr22_48484553_48756932 | 48667774 | CTGTAATC others(772): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(159): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004a0001c0001t0001g0037a0001c0001t0001g0038others(159): Show | 162 | 258 | 0.6279 | -779 | c.262 others(19): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | chr22 | TogoVar | ||||||
| TMEM143_chr19_48327356_48368940 | 48353287 | CTCCTGCC others(772): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0321 | 1 | 350 | 0.0029 | -779 | c.369 others(17): Show |
TMEM143 | ENSG00000161558.11 | transcript | ENST00000293261.8 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
| ANKS1B_chr12_98738974_99989936 | 99424415 | TAACTCCA others(771): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 48 | 0.0208 | -778 | c.157 others(21): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 11/26 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132134829 | CGAGTGTG others(771): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 334 | 0.0030 | -778 | c.*36 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1764 | chr12 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805564 | CCCTCAGC others(771): Show |
C | upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 319 | 0.0031 | -778 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3628 | chr2 | TogoVar | ||||||
| SAE1_chr19_47125835_47215636 | 47155774 | AGTCTTGC others(771): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 380 | 0.0026 | -778 | c.627 others(16): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SERPINF2_chr17_1737871_1760265 | 1743676 | TTGCACTC others(771): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 | 1 | 445 | 0.0023 | -778 | c.-5+ others(13): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| COL4A2_chr13_110302284_110518209 | 110481143 | TTGCTGGA others(770): Show |
T | intron_variant | MODIFIER | NA18964.hp2 NA19081.hp1 |
a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0269a0001c0015t0002g0284 | 2 | 372 | 0.0054 | -777 | c.275 others(17): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| DDX51_chr12_132131594_132149319 | 132134708 | GCTCCTCC others(770): Show |
G | downstream_gene_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0050 | 1 | 334 | 0.0030 | -777 | c.*37 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1885 | chr12 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1090003 | GTTGTTGT others(770): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG03654.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0090a0001c0001t0091 | a0001c0001t0013g0015a0001c0001t0090g0032a0001c0001t0091g0028 | 3 | 162 | 0.0185 | -777 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805447 | TCCCCCCT others(770): Show |
T | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 314 | 0.0032 | -777 | c.*12 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1161 | chr2 | TogoVar | ||||||
| LMLN_chr3_197955217_198048720 | 198013612 | CCCTTCAG others(770): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02809.hp2 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008a0002c0002t0016others(3): Show | a0002c0002t0002g0012a0002c0002t0002g0013a0002c0002t0002g0044others(10): Show | 13 | 258 | 0.0504 | -777 | c.132 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MLPH_chr2_237482251_237560322 | 237543905 | GGGAGGAC others(770): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02922.hp2 HG03225.hp1 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0007a0008c0009t0002g0102a0008c0009t0002g0113others(2): Show | 5 | 286 | 0.0175 | -777 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NEU4_chr2_241804193_241822413 | 241805447 | TCCCCCCT others(770): Show |
T | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 319 | 0.0031 | -777 | c.-38 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3745 | chr2 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1070173 | GCCCCCAG others(770): Show |
G | intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0034 | 1 | 118 | 0.0085 | -777 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132134791 | CCCGAGTG others(769): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp2 | a0005 | a0005c0007 | a0005c0007t0011 | a0005c0007t0011g0019 | 1 | 334 | 0.0030 | -776 | c.*37 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1802 | chr12 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 321922 | GCGGGGCT others(769): Show |
G | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0025 | 2 | 88 | 0.0227 | -776 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1642167 | CCACCTGT others(769): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0008 | a0004c0008t0016 | a0004c0008t0016g0029 | 1 | 40 | 0.0250 | -776 | c.181 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| LMLN_chr3_197955217_198048720 | 198004405 | CCATCTAT others(769): Show |
C | intron_variant | MODIFIER | NA18977.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111a0001c0001t0003g0112 | 2 | 258 | 0.0078 | -776 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LMLN_chr3_197955217_198048720 | 198004457 | CCATCTAT others(769): Show |
C | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 258 | 0.0039 | -776 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PCNT_chr21_46319156_46450769 | 46383158 | GGAAGCGC others(769): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0048 | a0048c0056 | a0048c0056t0001 | a0048c0056t0001g0298 | 1 | 332 | 0.0030 | -776 | c.331 others(19): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| TNFSF14_chr19_6656253_6675160 | 6657147 | ACAGAGTC others(769): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0223 | 1 | 466 | 0.0022 | -776 | c.*70 others(11): Show |
TNFSF14 | ENSG00000125735.11 | transcript | ENST00000675206.1 | protein_coding | 4105 | chr19 | TogoVar | ||||||
| ANKRD33B_chr5_10559070_10662816 | 10639310 | GATGTTAG others(768): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG02071.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0032 | a0001c0001t0001a0009c0032t0003 | a0001c0001t0001g0221a0001c0001t0001g0247a0001c0001t0001g0301others(2): Show | 5 | 324 | 0.0154 | -775 | c.637 others(17): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240907850 | GCTCTACC others(768): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG01169.hp1 others(25): Show |
a0001a0002a0006others(7): Show | a0001c0001a0002c0002a0002c0021others(8): Show | a0001c0001t0001a0002c0002t0001a0002c0021t0006others(11): Show | a0001c0001t0001g0095a0001c0001t0001g0100a0002c0002t0001g0168others(23): Show | 28 | 350 | 0.0800 | -775 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240908150 | CCTCTACC others(768): Show |
C | intron_variant | MODIFIER | NA18998.hp2 NA19087.hp1 |
a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0085a0007c0006t0001g0086 | 2 | 350 | 0.0057 | -775 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1395286 | CGTGTATT others(768): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | -775 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241806995 | CCCCTCAG others(768): Show |
C | downstream_gene_variant | MODIFIER | HG02074.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0229 | 1 | 314 | 0.0032 | -775 | c.*28 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2709 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806995 | CCCCTCAG others(768): Show |
C | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 319 | 0.0031 | -775 | c.-22 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2197 | chr2 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3090764 | ACCTACCT others(768): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 | 1 | 340 | 0.0029 | -775 | 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 | 3092807 | CGCGCCTA others(768): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0335 | 1 | 340 | 0.0029 | -775 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SIRPB1_chr20_1556385_1625009 | 1621830 | TAACCTTT others(768): Show |
T | upstream_gene_variant | MODIFIER | NA18948.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0171 | 1 | 364 | 0.0028 | -775 | c.-26 others(11): Show |
SIRPB1 | ENSG00000101307.16 | transcript | ENST00000381605.9 | protein_coding | 1822 | chr20 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1239134 | CCCCTCTC others(767): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0087 | 1 | 106 | 0.0094 | -774 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ANLN_chr7_36384862_36458791 | 36401559 | GAACTCCT others(767): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
a0001a0003a0005others(2): Show | a0001c0002a0001c0011a0001c0012others(6): Show | a0001c0002t0001a0001c0002t0007a0001c0002t0011others(10): Show | a0001c0002t0001g0006a0001c0002t0001g0097a0001c0002t0001g0098others(126): Show | 131 | 408 | 0.3211 | -774 | c.487 others(17): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240907950 | CCTCTACC others(767): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0076 | 1 | 350 | 0.0029 | -774 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1086097 | GTTGTTGA others(767): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0099 | a0002c0002t0099g0131 | 1 | 162 | 0.0062 | -774 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MPPED1_chr22_43407014_43512848 | 43496116 | TGGAGGTG others(767): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0195a0001c0002t0004g0028a0001c0002t0004g0029 | 3 | 250 | 0.0120 | -774 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| OTUD7A_chr15_31470398_31875673 | 31510763 | TATGTATA others(767): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0081 | a0001c0002t0081g0167 | 1 | 244 | 0.0041 | -774 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66798470 | GTGGTGGT others(767): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0097 | 1 | 178 | 0.0056 | -774 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80744127 | CCCTGGCT others(767): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0012 | a0001c0012t0018 | a0001c0012t0018g0194 | 1 | 196 | 0.0051 | -774 | c.655 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SGCZ_chr8_14079845_15243431 | 14730543 | CAGAAACA others(767): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0046 | 1 | 102 | 0.0098 | -774 | c.40- others(19): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar |