view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL3RA_chrX_1331785_1387689 | 1366909 | GGGGTGAG others(82): Show |
G | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 105 | 0.0095 | -89 | c.874 others(106): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367261 | GGGTGAGC others(82): Show |
G | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0072 | 1 | 112 | 0.0089 | -89 | c.874 others(106): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL7_chr8_78727772_78810463 | 78771161 | AAAACCTC others(82): Show |
A | intron_variant | MODIFIER | HG00738.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0205 |
2 | 262 | 0.0076 | -89 | c.147 others(108): Show |
IL7 | ENSG00000104432.15 | transcript | ENST00000263851.9 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357856 | TATATAAA others(82): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 259 | 0.0039 | -89 | c.-13 others(100): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1054 | chr6 | TogoVar | |||||||
IQCA1L_chr7_151185873_151210496 | 151210299 | TGTCCATA others(82): Show |
T | upstream_gene_variant | MODIFIER | HG01071.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0017 | 1 | 446 | 0.0022 | -89 | c.-49 others(100): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 4804 | chr7 | TogoVar | |||||||
ITCH_chr20_34358273_34516773 | 34471688 | GTGTGTGT others(82): Show |
G | intron_variant | MODIFIER | HG02280.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0014a0001c0004t0009 | a0001c0001t0014g0291 a0001c0004t0009g0294 |
2 | 292 | 0.0068 | -89 | c.156 others(106): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68397226 | TATATATT others(82): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0017 | a0017c0073 | a0017c0073t0013 | a0017c0073t0013g0138 | 1 | 230 | 0.0043 | -89 | c.164 others(106): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
KCNIP1_chr5_170499020_170741632 | 170517713 | GTAGTGAT others(82): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 218 | 0.0046 | -89 | c.61+ others(106): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170517728 | ATTATGGA others(82): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0126 a0001c0001t0001g0158 others(54): Show |
57 | 214 | 0.2664 | -89 | c.61+ others(106): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170731813 | TGAAAAGC others(82): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(159): Show |
162 | 218 | 0.7431 | -89 | c.436 others(104): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88310158 | ATATACCA others(82): Show |
A | intron_variant | MODIFIER | HG02040.hp1 NA18980.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0022 | a0001c0001t0001g0215 a0001c0003t0022g0216 |
2 | 332 | 0.0060 | -89 | c.52+ others(106): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183149439 | CCACACCC others(82): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0016a0002c0001a0002c0023 | a0001c0016t0001a0002c0001t0001a0002c0023t0001 | a0001c0016t0001g0097 a0001c0016t0001g0098 a0002c0001t0001g0116 others(4): Show |
7 | 305 | 0.0230 | -89 | c.*66 others(100): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3848 | chr1 | TogoVar | |||||||
LDHAL6B_chr15_59201843_59213588 | 59209878 | AGGCTAGA others(82): Show |
A | downstream_gene_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0000 | 1 | 446 | 0.0022 | -89 | c.*17 others(100): Show |
LDHAL6B | ENSG00000171989.6 | transcript | ENST00000307144.6 | protein_coding | 1291 | chr15 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202204609 | AACACACA others(82): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0090 | 1 | 260 | 0.0038 | -89 | c.212 others(108): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198040804 | CCTCCTAT others(82): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG02258.hp1 HG02809.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0015a0002c0002t0029 | a0002c0002t0015g0032 a0002c0002t0015g0036 a0002c0002t0015g0037 others(1): Show |
4 | 256 | 0.0156 | -89 | c.*22 others(100): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 17/17 | 2232 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LPP_chr3_188149157_188895671 | 188785422 | CATATATA others(82): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0068 | 1 | 67 | 0.0149 | -89 | c.141 others(110): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LPP_chr3_188149157_188895671 | 188785446 | TATATTCC others(82): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0060 | a0001c0001t0006g0032 a0001c0001t0060g0023 |
2 | 72 | 0.0278 | -89 | c.141 others(110): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LY6L_chr8_143075630_143088486 | 143083085 | ATGGGAAG others(82): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 | 3 | 428 | 0.0070 | -89 | c.*43 others(98): Show |
LY6L | ENSG00000261667.2 | transcript | ENST00000562505.2 | protein_coding | 4/4 | 435 | chr8 | TogoVar | ||||||
MAFK_chr7_1525702_1548043 | 1526228 | GAGGAGAA others(82): Show |
G | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 378 | 0.0026 | -89 | c.-47 others(100): Show |
MAFK | ENSG00000198517.10 | transcript | ENST00000343242.9 | protein_coding | 4473 | chr7 | TogoVar | |||||||
MDH2_chr7_76043106_76072508 | 76056157 | TGTAATTT others(82): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 396 | 0.0025 | -89 | c.235 others(106): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MESP1_chr15_89744875_89756249 | 89746274 | GCAGCATC others(82): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02717.hp2 HG03139.hp1 others(2): Show |
a0003a0004 | a0003c0030a0004c0019a0004c0020others(1): Show | a0003c0030t0001a0004c0019t0001a0004c0020t0001others(1): Show | a0003c0030t0001g0038 a0004c0019t0001g0021 a0004c0020t0001g0022 others(1): Show |
5 | 426 | 0.0117 | -89 | c.*37 others(100): Show |
MESP1 | ENSG00000166823.6 | transcript | ENST00000300057.5 | protein_coding | 3600 | chr15 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79439306 | GGTGGGTA others(82): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
a0001a0002a0004 | a0001c0007a0002c0003a0004c0009 | a0001c0007t0008a0001c0007t0015a0002c0003t0003others(1): Show | a0001c0007t0008g0174 a0001c0007t0015g0057 a0002c0003t0003g0187 others(1): Show |
4 | 386 | 0.0104 | -89 | c.-51 others(106): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237545053 | GGTGGAGG others(82): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02486.hp1 NA19091.hp2 |
a0001a0007a0030 | a0001c0001a0007c0007a0030c0028 | a0001c0001t0001a0007c0007t0002a0030c0028t0001 | a0001c0001t0001g0147 a0007c0007t0002g0032 a0030c0028t0001g0131 |
3 | 192 | 0.0156 | -89 | c.154 others(108): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MORN4_chr10_97609555_97638500 | 97614270 | ATGCTCAG others(82): Show |
A | downstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0076 | 1 | 416 | 0.0024 | -89 | c.*19 others(100): Show |
MORN4 | ENSG00000171160.18 | transcript | ENST00000307450.11 | protein_coding | 284 | chr10 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770921 | GATATCAT others(82): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 109 | 0.0092 | -89 | c.-25 others(100): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2474 | chr3 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175369311 | TGTAACAA others(82): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02717.hp2 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0007a0004c0002others(1): Show | a0001c0001t0006a0002c0007t0008a0004c0002t0018others(1): Show | a0001c0001t0006g0026 a0002c0007t0008g0041 a0004c0002t0018g0003 others(1): Show |
4 | 64 | 0.0625 | -89 | c.109 others(110): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NCMAP_chr1_24551087_24614328 | 24563258 | GCGCCTGT others(82): Show |
G | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0381 | 1 | 400 | 0.0025 | -89 | c.-8+ others(104): Show |
NCMAP | ENSG00000184454.7 | transcript | ENST00000374392.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124373255 | ACCCGGGC others(82): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0080 | 1 | 158 | 0.0063 | -89 | c.221 others(106): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 21/48 | chr12 | TogoVar | |||||||
NELL1_chr11_20664586_21580686 | 20975669 | ATATTATA others(82): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 86 | 0.0116 | -89 | c.130 others(110): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79481783 | GGTCCTGG others(82): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp2 HG03041.hp1 others(1): Show |
a0001a0008 | a0001c0008a0001c0018a0008c0031 | a0001c0008t0005a0001c0008t0014a0001c0018t0004others(1): Show | a0001c0008t0005g0287 a0001c0008t0014g0197 a0001c0018t0004g0303 others(1): Show |
4 | 320 | 0.0125 | -89 | c.209 others(108): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79482190 | ATGACCTG others(82): Show |
A | intron_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0007 | a0003c0007t0024 | a0003c0007t0024g0149 | 1 | 320 | 0.0031 | -89 | c.209 others(108): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79483887 | GGGTGTCA others(82): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0058 | a0002c0002t0058g0247 | 1 | 320 | 0.0031 | -89 | c.209 others(108): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC2_chr20_51381963_51547719 | 51545544 | AGATGGAT others(82): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 314 | 0.0032 | -89 | c.-31 others(100): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 2826 | chr20 | TogoVar | |||||||
NME7_chr1_169127531_169372797 | 169342760 | ATATATAT others(82): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(87): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 others(87): Show |
90 | 293 | 0.3072 | -89 | c.4-1 others(104): Show |
NME7 | ENSG00000143156.14 | transcript | ENST00000367811.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
NRIP3_chr11_8975576_9009001 | 8978631 | GGTCAGCC others(82): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0052others(1): Show | a0001c0001t0003g0013 a0001c0001t0003g0261 a0001c0001t0004g0006 others(12): Show |
20 | 398 | 0.0503 | -89 | c.*48 others(100): Show |
NRIP3 | ENSG00000175352.12 | transcript | ENST00000309166.8 | protein_coding | 1944 | chr11 | TogoVar | |||||||
NSMF_chr9_137442570_137464334 | 137450511 | CCTCTTCC others(82): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0079 | 1 | 412 | 0.0024 | -89 | c.123 others(106): Show |
NSMF | ENSG00000165802.23 | transcript | ENST00000371475.9 | protein_coding | 12/15 | chr9 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131789494 | AAAGAAGA others(82): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0070 | 1 | 69 | 0.0145 | -89 | c.83- others(108): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
NXN_chr17_794310_984776 | 835684 | GAAACACC others(82): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 126 | 0.0079 | -89 | c.361 others(106): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR1F1_chr16_3183204_3211556 | 3197577 | GTGGCCAC others(82): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01884.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(8): Show | a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 others(26): Show |
32 | 326 | 0.0982 | -89 | c.-13 others(106): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
OR1F1_chr16_3183204_3211556 | 3197578 | TGGCCACA others(82): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0007a0001c0012others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(41): Show | a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0017 others(238): Show |
275 | 323 | 0.8514 | -89 | c.-13 others(106): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OR4C12_chr11_49976473_49987535 | 49976485 | CAGTGGCT others(82): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 420 | 0.0048 | -89 | c.*49 others(100): Show |
OR4C12 | ENSG00000221954.2 | transcript | ENST00000335238.4 | protein_coding | 4987 | chr11 | TogoVar | |||||||
PANX1_chr11_94123841_94186968 | 94152031 | CAGGCAAA others(82): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02257.hp1 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 others(13): Show |
19 | 406 | 0.0468 | -89 | c.182 others(106): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 302393 | CTCTGTGT others(82): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0308 | 1 | 358 | 0.0028 | -89 | c.164 others(106): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10813740 | ATTCTCTT others(82): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG02145.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0055 others(4): Show |
10 | 340 | 0.0294 | -89 | c.-11 others(100): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 956 | chr2 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977874 | CCAACCCC others(82): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01123.hp1 others(14): Show |
a0001a0004 | a0001c0001a0001c0042a0004c0004 | a0001c0001t0002a0001c0001t0009a0001c0042t0002others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0086 a0001c0001t0009g0141 others(2): Show |
17 | 388 | 0.0438 | -89 | c.214 others(107): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PGAP2_chr11_3803560_3831371 | 3817473 | TTCTTCTG others(82): Show |
T | splice_donor_variant others(3): Show |
HIGH | HG02155.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0088 | 1 | 416 | 0.0024 | -89 | c.289 others(99): Show |
p.Phe others(12): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 3/7 | 391/1963 | 289/948 | 97/315 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
PKD2L1_chr10_100283149_100335228 | 100314965 | AGGAAGGA others(82): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0008 | 2 | 251 | 0.0080 | -89 | c.349 others(108): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PLCB3_chr11_64246530_64272923 | 64271136 | TCACACAC others(82): Show |
T | downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 187 | 0.0053 | -89 | c.*35 others(100): Show |
PLCB3 | ENSG00000149782.13 | transcript | ENST00000279230.12 | protein_coding | 3214 | chr11 | TogoVar | |||||||
PLEKHG5_chr1_6462122_6496667 | 6495722 | ACCTGGCT others(82): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp2 | a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0008 | 1 | 286 | 0.0035 | -89 | c.-42 others(100): Show |
PLEKHG5 | ENSG00000171680.23 | transcript | ENST00000377728.8 | protein_coding | 4056 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977874 | CCAACCCC others(82): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01192.hp2 others(13): Show |
a0001a0004a0006others(1): Show | a0001c0010a0001c0012a0001c0018others(7): Show | a0001c0010t0003a0001c0010t0008a0001c0012t0003others(10): Show | a0001c0010t0003g0079 a0001c0010t0008g0153 a0001c0012t0003g0032 others(11): Show |
16 | 399 | 0.0401 | -89 | c.*33 others(100): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2010 | chr1 | TogoVar |