| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FMN1_chr15_32760544_33199714 | 32777847 | TAATTATA others(148): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0013 | a0013c0034 | a0013c0034t0007 | a0013c0034t0007g0117 | 1 | 196 | 0.0051 | -155 | c.413 others(18): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805192 | GACGTCTG others(148): Show |
G | downstream_gene_variant | MODIFIER | HG02004.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0232 | 1 | 314 | 0.0032 | -155 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 906 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805195 | GTCTGCAG others(148): Show |
G | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 314 | 0.0032 | -155 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 909 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805198 | TGCAGGCC others(148): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02074.hp2 NA19004.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0186a0002c0002t0001g0015a0003c0003t0001g0038others(1): Show | 4 | 314 | 0.0127 | -155 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 912 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241807349 | GCCCAGGA others(148): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG02486.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0140a0002c0002t0002g0146 | 2 | 314 | 0.0064 | -155 | c.*31 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3063 | chr2 | TogoVar | ||||||
| GOLGA3_chr12_132763914_132833869 | 132776338 | CCCCTCCA others(148): Show |
C | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0011 | a0001c0011t0074 | a0001c0011t0074g0067 | 1 | 308 | 0.0033 | -155 | c.397 others(17): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 21/23 | chr12 | TogoVar | ||||||
| GOLGA8A_chr15_34374068_34442808 | 34437559 | CCGCGCCG others(148): Show |
C | 5_prime_UTR_variant | MODIFIER | HG04184.hp1 HG04184.hp2 NA18964.hp1 |
a0002a0020a0036 | a0002c0002a0020c0018a0036c0030 | a0002c0002t0024a0020c0018t0024a0036c0030t0024 | a0002c0002t0024g0159a0020c0018t0024g0158a0036c0030t0024g0160 | 3 | 245 | 0.0122 | -155 | c.-15 others(11): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 1/25 | 47869 | chr15 | TogoVar | |||||
| HCN1_chr5_45249948_45701380 | 45375352 | AATATTTT others(148): Show |
A | intron_variant | MODIFIER | HG00323.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0096a0001c0001t0003g0083 | 2 | 226 | 0.0089 | -155 | c.123 others(21): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
| HCN1_chr5_45249948_45701380 | 45375370 | ATATATAT others(148): Show |
A | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 226 | 0.0044 | -155 | c.123 others(21): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
| HCN1_chr5_45249948_45701380 | 45375586 | ATTATATA others(148): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA18953.hp2 NA18971.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031a0001c0001t0004g0032a0001c0001t0004g0033others(5): Show | 8 | 226 | 0.0354 | -155 | c.123 others(21): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
| HCN1_chr5_45249948_45701380 | 45375597 | GATCATAT others(148): Show |
G | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 226 | 0.0044 | -155 | c.123 others(21): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
| HIP1R_chr12_122830457_122867961 | 122853390 | CGGGCCCT others(148): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(138): Show |
a0001a0004a0007others(6): Show | a0001c0001a0001c0011a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(95): Show | 141 | 348 | 0.4052 | -155 | c.578 others(15): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 7/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| HPF1_chr4_169724470_169762944 | 169753059 | GGTCTTGC others(148): Show |
G | intron_variant | MODIFIER | HG03927.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0120 | 1 | 320 | 0.0031 | -155 | c.208 others(15): Show |
HPF1 | ENSG00000056050.7 | transcript | ENST00000393381.3 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
| ITPRIP_chr10_104304700_104343465 | 104320117 | TTCCCTTT others(148): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0096 | 1 | 324 | 0.0031 | -155 | c.-13 others(17): Show |
ITPRIP | ENSG00000148841.17 | transcript | ENST00000337478.3 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79830880 | TACAGAGC others(148): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01515.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0036a0001c0003t0001g0072a0001c0003t0001g0121others(8): Show | 11 | 312 | 0.0353 | -155 | c.-11 others(21): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNMA1_chr10_76879882_77642808 | 77472240 | TAGACACA others(148): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0021 | 1 | 106 | 0.0094 | -155 | c.379 others(19): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167999889 | ATCCCCAC others(148): Show |
A | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 |
a0003a0005 | a0003c0004a0005c0007 | a0003c0004t0010a0005c0007t0010 | a0003c0004t0010g0018a0005c0007t0010g0019 | 2 | 375 | 0.0053 | -155 | c.-37 others(17): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KIF26B_chr1_245149985_245714432 | 245673176 | GCTGCGCG others(148): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0121 | 1 | 160 | 0.0063 | -155 | c.225 others(21): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | chr1 | TogoVar | ||||||
| LIPG_chr18_49557057_49604185 | 49579044 | GGGAGAGG others(148): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0290 | 1 | 384 | 0.0026 | -155 | c.794 others(17): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LMLN_chr3_197955217_198048720 | 198003614 | ATAGTAAG others(148): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02572.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0014 | a0002c0002t0002g0044a0002c0002t0002g0066a0002c0002t0006g0131others(2): Show | 5 | 258 | 0.0194 | -155 | c.131 others(17): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LMLN_chr3_197955217_198048720 | 198003626 | ACATTATC others(148): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0006 | 1 | 258 | 0.0039 | -155 | c.131 others(17): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LOC128462377_chr16_89312046_89423292 | 89328681 | CACCCAGG others(148): Show |
C | intron_variant | MODIFIER | NA18952.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0091a0001c0001t0000g0200 | 2 | 366 | 0.0055 | -155 | c.10- others(17): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
| LPP_chr3_188149157_188895671 | 188785336 | TATATATA others(148): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02602.hp1 HG02922.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0009others(1): Show | a0001c0001t0020a0002c0003t0002a0002c0003t0004others(2): Show | a0001c0001t0020g0067a0002c0003t0002g0004a0002c0003t0004g0044others(2): Show | 5 | 76 | 0.0658 | -155 | c.141 others(21): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LRBA_chr4_150259435_151020284 | 150658521 | CCCTCTCC others(148): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0017 | a0001c0017t0010 | a0001c0017t0010g0136 | 1 | 180 | 0.0056 | -155 | c.592 others(21): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | ||||||
| LRP12_chr8_104484236_104594258 | 104548233 | TATTAATA others(148): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG03540.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0264a0001c0001t0006g0265a0001c0001t0006g0266 | 3 | 318 | 0.0094 | -155 | c.80- others(17): Show |
LRP12 | ENSG00000147650.12 | transcript | ENST00000276654.10 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
| LYPD8_chr1_248734415_248760759 | 248747338 | GCCCGCAC others(148): Show |
G | intron_variant | MODIFIER | HG04184.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0041 | 2 | 374 | 0.0054 | -155 | c.337 others(15): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| LYPD8_chr1_248734415_248760759 | 248747617 | CCCCGCAC others(148): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0150a0001c0001t0001g0246 | 3 | 374 | 0.0080 | -155 | c.337 others(15): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| LYPD8_chr1_248734415_248760759 | 248747679 | CCCCGCAC others(148): Show |
C | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 374 | 0.0027 | -155 | c.337 others(15): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1861395 | TCACTGCT others(148): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 264 | 0.0038 | -155 | c.199 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
| MAD2L2_chr1_11669480_11686148 | 11685103 | ATTTTTTG others(148): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 430 | 0.0023 | -155 | c.-42 others(11): Show |
MAD2L2 | ENSG00000116670.16 | transcript | ENST00000376692.9 | protein_coding | 3956 | chr1 | TogoVar | ||||||
| MAEA_chr4_1284891_1345137 | 1319953 | TCAAGAAA others(148): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0289 | 1 | 388 | 0.0026 | -155 | c.457 others(17): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAP2K5_chr15_67537703_67812114 | 67644929 | ATTGAGGT others(148): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 278 | 0.0036 | -155 | c.586 others(17): Show |
MAP2K5 | ENSG00000137764.20 | transcript | ENST00000178640.10 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ME1_chr6_83205402_83436051 | 83243432 | TATATAAT others(148): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG02040.hp1 HG02056.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035a0001c0001t0002g0036a0001c0001t0002g0037others(9): Show | 12 | 272 | 0.0441 | -155 | c.815 others(17): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 7/13 | chr6 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195773492 | TATCACTC others(148): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(7): Show |
a0026a0097a0175others(6): Show | a0026c0009a0097c0129a0175c0031others(6): Show | a0026c0009t0002a0097c0129t0002a0175c0031t0001others(6): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0097c0129t0002g0188others(7): Show | 10 | 249 | 0.0402 | -155 | c.130 others(19): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2081114 | GTTGGTTC others(148): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0016 | a0016c0073 | a0016c0073t0001 | a0016c0073t0001g0280 | 1 | 403 | 0.0025 | -155 | c.151 others(19): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NEU4_chr2_241804193_241822413 | 241805192 | GACGTCTG others(148): Show |
G | upstream_gene_variant | MODIFIER | HG01346.hp2 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0033 | 2 | 319 | 0.0063 | -155 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 4000 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805195 | GTCTGCAG others(148): Show |
G | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 319 | 0.0031 | -155 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3997 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805198 | TGCAGGCC others(148): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG02074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0167 | 2 | 319 | 0.0063 | -155 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3994 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241807349 | GCCCAGGA others(148): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0038a0001c0001t0003g0190 | 2 | 319 | 0.0063 | -155 | c.-19 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1843 | chr2 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993459 | CTCCCCCC others(148): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG02074.hp1 HG02165.hp1 others(4): Show |
a0000a0001 | a0000c0002a0000c0010a0000c0025others(2): Show | a0000c0002t0001a0000c0002t0004a0000c0010t0072others(3): Show | a0000c0002t0001g0002a0000c0002t0001g0286a0000c0002t0004g0280others(4): Show | 7 | 350 | 0.0200 | -155 | c.*55 others(11): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4831 | chr19 | TogoVar | ||||||
| NRCAM_chr7_108142649_108461436 | 108163778 | GCGGTAAT others(148): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0006 | a0006c0015 | a0006c0015t0002 | a0006c0015t0002g0167 | 1 | 208 | 0.0048 | -155 | c.346 others(19): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | ||||||
| NTM_chr11_131365615_132341822 | 131789481 | GAAGAAGA others(148): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0048 | 1 | 86 | 0.0116 | -155 | c.83- others(19): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PARD3B_chr2_204540475_205625162 | 204648667 | TATATCAT others(148): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0002 | 1 | 54 | 0.0185 | -155 | c.121 others(19): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PEX5_chr12_7184686_7216459 | 7196868 | ATAATTAT others(148): Show |
A | intron_variant | MODIFIER | NA18995.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0107 | 2 | 428 | 0.0047 | -155 | c.449 others(17): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PIGQ_chr16_564968_589109 | 585006 | CCCCCCAG others(148): Show |
C | downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 | 1 | 408 | 0.0025 | -155 | c.*19 others(11): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 898 | chr16 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401229 | GCCCCGCT others(148): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0021 | 1 | 216 | 0.0046 | -155 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PRDX1_chr1_45506051_45526884 | 45523568 | TGGGAAGA others(148): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0018 | 2 | 364 | 0.0055 | -155 | c.-19 others(11): Show |
PRDX1 | ENSG00000117450.15 | transcript | ENST00000319248.13 | protein_coding | 1685 | chr1 | TogoVar | ||||||
| PROZ_chr13_113153648_113177386 | 113154098 | GGGGGGCG others(148): Show |
G | upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 378 | 0.0027 | -155 | c.-45 others(11): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4549 | chr13 | TogoVar | ||||||
| PSMF1_chr20_1113602_1177246 | 1149837 | ACCAGCCT others(148): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01981.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0021a0002c0002t0009 | a0001c0001t0013g0157a0001c0001t0021g0155a0002c0002t0009g0289 | 3 | 326 | 0.0092 | -155 | c.552 others(19): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PSMF1_chr20_1113602_1177246 | 1149893 | CGTGACCC others(148): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01943.hp2 HG02258.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(5): Show | a0001c0001t0001g0224a0001c0001t0005g0197a0001c0001t0016g0151others(13): Show | 17 | 326 | 0.0522 | -155 | c.552 others(19): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |