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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IPCEF1_chr6_154149496_154361803 | 154357856 | TATATAAA others(82): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 264 | 0.0038 | -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 | 448 | 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 | a0001c0001t0014g0291a0001c0004t0009g0294 | 2 | 294 | 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 | a0017c0073t0061 | a0017c0073t0061g0137 | 1 | 242 | 0.0041 | -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 | a0001c0001t0001g0007a0001c0001t0001g0123a0001c0001t0001g0158others(54): Show | 57 | 218 | 0.2615 | -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 | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(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 | a0001c0001t0002a0001c0003t0015 | a0001c0001t0002g0215a0001c0003t0015g0216 | 2 | 334 | 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 | a0001c0016t0001g0094a0001c0016t0001g0096a0002c0001t0001g0114others(4): Show | 7 | 308 | 0.0227 | -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 | 448 | 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 | a0002c0002t0003g0091 | 1 | 262 | 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 | a0002c0002t0017a0002c0002t0045 | a0002c0002t0017g0031a0002c0002t0017g0035a0002c0002t0017g0036others(1): Show | 4 | 258 | 0.0155 | -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 | a0001c0001t0008 | a0001c0001t0008g0065 | 1 | 76 | 0.0132 | -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 | a0001c0001t0005a0001c0001t0061 | a0001c0001t0005g0032a0001c0001t0061g0023 | 2 | 76 | 0.0263 | -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 | a0001c0001t0012 | a0001c0001t0012g0009 | 3 | 430 | 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 | a0001c0001t0001g0122 | 1 | 380 | 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 | a0001c0001t0003g0085 | 1 | 398 | 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 | a0003c0030t0001g0038a0004c0019t0001g0021a0004c0020t0001g0022others(1): Show | 5 | 428 | 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 | a0001c0007t0008g0179a0001c0007t0015g0052a0002c0003t0003g0192others(1): Show | 4 | 390 | 0.0103 | -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 |
a0001a0007a0031 | a0001c0001a0007c0007a0031c0028 | a0001c0001t0001a0007c0007t0002a0031c0028t0001 | a0001c0001t0001g0144a0007c0007t0002g0029a0031c0028t0001g0128 | 3 | 286 | 0.0105 | -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 | a0001c0002t0002g0077 | 1 | 418 | 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 | a0001c0001t0001g0096 | 1 | 350 | 0.0029 | -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 |
a0001a0003a0004others(1): Show | a0001c0001a0003c0007a0004c0002others(1): Show | a0001c0001t0031a0003c0007t0006a0004c0002t0021others(1): Show | a0001c0001t0031g0026a0003c0007t0006g0041a0004c0002t0021g0003others(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 | a0001c0001t0001g0382 | 1 | 402 | 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 | 234 | 0.0043 | -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 | 88 | 0.0114 | -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 |
a0001a0005 | a0001c0008a0001c0018a0005c0031 | a0001c0008t0005a0001c0008t0014a0001c0018t0004others(1): Show | a0001c0008t0005g0288a0001c0008t0014g0197a0001c0018t0004g0303others(1): Show | 4 | 322 | 0.0124 | -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 | a0003c0007t0024g0146 | 1 | 322 | 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 | a0002c0002t0058g0245 | 1 | 322 | 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 | a0001c0001t0006g0056 | 1 | 316 | 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(88): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0001g0190others(88): Show | 91 | 302 | 0.3013 | -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 | a0001c0001t0003a0001c0001t0004a0001c0001t0053others(1): Show | a0001c0001t0003g0013a0001c0001t0003g0262a0001c0001t0004g0006others(12): Show | 20 | 406 | 0.0493 | -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 | a0001c0001t0027g0102 | 1 | 414 | 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 |
A | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0070 | 1 | 86 | 0.0116 | -89 | c.83- others(108): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NXN_chr17_794310_984776 | 835684 | GAAACACC others(82): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 242 | 0.0041 | -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 | a0001c0001t0002g0067a0001c0001t0002g0068a0001c0001t0002g0069others(26): Show | 32 | 328 | 0.0976 | -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(273): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0007a0001c0012others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(41): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0013others(244): Show | 276 | 328 | 0.8415 | -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 | 422 | 0.0047 | -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 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0086others(13): Show | 19 | 408 | 0.0466 | -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 | a0001c0001t0003g0310 | 1 | 360 | 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 | a0001c0001t0001g0004a0001c0001t0001g0054a0001c0001t0001g0055others(4): Show | 10 | 342 | 0.0292 | -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 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0002g0008a0001c0001t0003g0001a0001c0001t0003g0012others(4): Show | 17 | 408 | 0.0417 | -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 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0150 | 1 | 418 | 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 | a0002c0003t0001g0002 | 2 | 306 | 0.0065 | -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 | a0001c0002t0001g0154 | 1 | 382 | 0.0026 | -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 | 288 | 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 | a0001c0010t0003a0001c0010t0009a0001c0012t0003others(10): Show | a0001c0010t0003g0080a0001c0010t0009g0153a0001c0012t0003g0033others(11): Show | 16 | 422 | 0.0379 | -89 | c.*33 others(100): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2010 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977894 | CCACTCCC others(82): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0050 | 1 | 422 | 0.0024 | -89 | c.*33 others(100): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2030 | chr1 | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153392069 | ACACACCA others(82): Show |
A | downstream_gene_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 346 | 0.0029 | -89 | c.*47 others(100): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 3569 | chrX | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41865073 | CCACTCCC others(82): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(141): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(45): Show | a0001c0001t0002g0141a0001c0001t0002g0226a0001c0001t0002g0249others(140): Show | 144 | 406 | 0.3547 | -89 | c.-9- others(104): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 1/23 | chr21 | TogoVar |