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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRDM16_chr1_3064203_3443621 | 3212602 | C | CCCGGCCC others(28): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0055 | a0001c0004t0055g0004 | 1 | 202 | 0.0050 | 35 | c.387 others(54): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3212618 | A | AGGTCCTC others(28): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 81 | 0.0123 | 35 | c.387 others(54): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM7_chr16_90051566_90082331 | 90052501 | A | ATCTCTGT others(28): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp2 others(26): Show |
a0001a0004a0018others(1): Show | a0001c0001a0004c0004a0018c0015others(1): Show | a0001c0001t0001a0004c0004t0003a0004c0004t0014others(4): Show | a0001c0001t0001g0001 a0004c0004t0003g0011 a0004c0004t0003g0026 others(10): Show |
29 | 389 | 0.0746 | 35 | c.*57 others(46): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 4064 | chr16 | TogoVar | |||||||
PREPL_chr2_44312607_44366494 | 44365605 | T | TTTTCCCG others(28): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0022 | 1 | 380 | 0.0026 | 35 | c.-42 others(46): Show |
PREPL | ENSG00000138078.16 | transcript | ENST00000409411.6 | protein_coding | 4112 | chr2 | TogoVar | |||||||
PREX2_chr8_67947046_68242032 | 67983305 | A | AGATTAAA others(28): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp1 others(90): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(49): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(78): Show | a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0190 others(90): Show |
93 | 188 | 0.4947 | 35 | c.141 others(54): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57446418 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 97 | 0.0103 | 35 | c.694 others(54): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93722007 | C | CTAGTGGT others(28): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(35): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(8): Show | a0001c0002t0001g0009 a0001c0002t0001g0102 a0001c0002t0001g0181 others(32): Show |
38 | 223 | 0.1704 | 35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93722071 | A | ATGGTGGT others(28): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 267 | 0.0037 | 35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93722189 | T | TGATGCTG others(28): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0275 a0001c0001t0002g0206 a0001c0001t0002g0208 others(1): Show |
4 | 396 | 0.0101 | 35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93722246 | G | GTGGTGGT others(28): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 |
3 | 346 | 0.0087 | 35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93722250 | T | TGGTAGTG others(28): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0343 | 1 | 396 | 0.0025 | 35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93722287 | G | GTAGTGGT others(28): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03139.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0002a0001c0004t0001a0001c0005t0001 | a0001c0001t0002g0155 a0001c0004t0001g0024 a0001c0004t0001g0333 others(1): Show |
4 | 386 | 0.0104 | 35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93722322 | G | GTAGTGGT others(28): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0248 | 1 | 383 | 0.0026 | 35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93722351 | A | ATGGTGCT others(28): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(23): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0001a0001c0002t0005a0001c0004t0001others(3): Show | a0001c0002t0001g0009 a0001c0002t0001g0181 a0001c0002t0001g0262 others(20): Show |
26 | 201 | 0.1294 | 35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93722351 | A | ATGGTGGT others(28): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 NA18522.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0006a0001c0006t0006 | a0001c0003t0006g0190 a0001c0006t0006g0320 a0001c0006t0006g0326 |
3 | 178 | 0.0169 | 35 | c.360 others(50): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRKACB_chr1_84139271_84243498 | 84198849 | G | GTATATGT others(28): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 318 | 0.0031 | 35 | c.783 others(52): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66815199 | T | TAGCCTGT others(28): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0077 | 1 | 176 | 0.0057 | 35 | c.*11 others(48): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 4457 | chr17 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23981661 | T | TCCCCTTC others(28): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0124 | 1 | 144 | 0.0069 | 35 | c.206 others(52): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | chr16 | TogoVar | |||||||
PRKCH_chr14_61316579_61555976 | 61380302 | C | CTGCCTTG others(28): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01361.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0067 a0001c0001t0002g0084 a0001c0001t0002g0094 others(3): Show |
6 | 206 | 0.0291 | 35 | c.364 others(54): Show |
PRKCH | ENSG00000027075.17 | transcript | ENST00000332981.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRKCQ_chr10_6422148_6585276 | 6429836 | C | CCTCCTGT others(28): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01167.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0171 a0001c0001t0003g0136 a0001c0001t0003g0152 others(18): Show |
21 | 252 | 0.0833 | 35 | c.196 others(52): Show |
PRKCQ | ENSG00000065675.16 | transcript | ENST00000263125.10 | protein_coding | 17/17 | chr10 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2123310 | G | GTAGTTAG others(28): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 214 | 0.0047 | 35 | c.335 others(54): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKG2_chr4_81082375_81220222 | 81217919 | C | CATTCCAG others(28): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 248 | 0.0040 | 35 | c.-29 others(46): Show |
PRKG2 | ENSG00000138669.10 | transcript | ENST00000264399.6 | protein_coding | 2698 | chr4 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161350561 | A | AATATATT others(28): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 32 | 0.0313 | 35 | c.128 others(52): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 11/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161875002 | T | TATTATAT others(28): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 HG02976.hp2 others(2): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0002others(2): Show | a0001c0001t0001g0005 a0001c0001t0008g0020 a0001c0003t0002g0027 others(2): Show |
5 | 31 | 0.1613 | 35 | c.735 others(54): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162235957 | G | GAAAGAAA others(28): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0004 | 1 | 32 | 0.0313 | 35 | c.412 others(54): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162450350 | C | CTGTGAAT others(28): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0004 | 1 | 32 | 0.0313 | 35 | c.8-6 others(48): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162532170 | G | GATAATAC others(28): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02922.hp1 HG03516.hp1 others(1): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0005 | a0001c0003t0002a0001c0004t0001a0003c0005t0001 | a0001c0003t0002g0027 a0001c0004t0001g0001 a0003c0005t0001g0015 others(1): Show |
4 | 23 | 0.1739 | 35 | c.8-8 others(50): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162532170 | G | GATAATAC others(28): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01361.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0028 others(6): Show |
9 | 28 | 0.3214 | 35 | c.8-8 others(50): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162532172 | T | TAATACAA others(28): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 32 | 0.0313 | 35 | c.8-8 others(50): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PROCA1_chr17_28698197_28716888 | 28708385 | T | TTTGGGTA others(28): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 318 | 0.0031 | 35 | c.92- others(50): Show |
PROCA1 | ENSG00000167525.16 | transcript | ENST00000682792.1 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
PROKR2_chr20_5294218_5321954 | 5299034 | G | GCTTGTTA others(28): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 422 | 0.0024 | 35 | c.*30 others(46): Show |
PROKR2 | ENSG00000101292.8 | transcript | ENST00000678254.1 | protein_coding | 183 | chr20 | TogoVar | |||||||
PROSER2_chr10_11818356_11877277 | 11842931 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01516.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0123 |
2 | 7 | 0.2857 | 35 | c.-81 others(52): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAATATAT others(28): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 217 | 0.0046 | 35 | c.582 others(50): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRR36_chr19_7863719_7879390 | 7878259 | C | CAGGCTGG others(28): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 384 | 0.0026 | 35 | c.-39 others(46): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3870 | chr19 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36351047 | T | TTATATGT others(28): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18965.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0006 | a0001c0001t0001g0205 a0002c0003t0006g0130 |
2 | 188 | 0.0106 | 35 | c.-12 others(56): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRC1_chr5_127512640_127560085 | 127531617 | C | CTTCTTTT others(28): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0050 | 1 | 6 | 0.1667 | 35 | c.757 others(52): Show |
PRRC1 | ENSG00000164244.21 | transcript | ENST00000296666.13 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131420489 | C | CCTTCTTT others(28): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0015 | a0015c0034 | a0015c0034t0037 | a0015c0034t0037g0020 | 1 | 213 | 0.0047 | 35 | c.-51 others(52): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | chr9 | TogoVar | |||||||
PRRC2B_chr9_131389086_131505193 | 131448543 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 67 | 0.0149 | 35 | c.112 others(52): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170669425 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0150 | 1 | 39 | 0.0256 | 35 | c.241 others(52): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170691441 | A | ATTTCCTT others(28): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 106 | 0.0094 | 35 | c.241 others(54): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRSS57_chr19_680546_700452 | 690526 | A | AAAGATCA others(28): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 440 | 0.0023 | 35 | c.378 others(52): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
PRTN3_chr19_835999_853175 | 840303 | T | TGGGCCCT others(28): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(180): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0038 others(145): Show |
183 | 414 | 0.4420 | 35 | c.-70 others(44): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 695 | chr19 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76879903 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0017 | a0017c0022 | a0017c0022t0012 | a0017c0022t0012g0006 | 1 | 62 | 0.0161 | 35 | c.37- others(52): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PRXL2A_chr10_80403551_80442115 | 80406757 | C | CTTATATA others(28): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0006 a0001c0001t0022g0073 |
3 | 28 | 0.1071 | 35 | c.-18 others(46): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1793 | chr10 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73151895 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18747.hp2 NA19063.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0256 a0001c0001t0006g0274 a0001c0001t0006g0277 others(1): Show |
4 | 363 | 0.0110 | 35 | c.87+ others(50): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122 | 1 | 136 | 0.0074 | 35 | c.430 others(52): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35640087 | A | ATACTATA others(28): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0007 | 2 | 279 | 0.0072 | 35 | c.91+ others(50): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PSMD14_chr2_161303425_161416717 | 161357076 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 19 | 0.0526 | 35 | c.49- others(52): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTTT others(28): Show |
intron_variant | MODIFIER | HG03927.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0130 a0001c0001t0002g0005 |
2 | 36 | 0.0556 | 35 | c.571 others(52): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53933375 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0008 | a0008c0025 | a0008c0025t0001 | a0008c0025t0001g0259 | 1 | 33 | 0.0303 | 35 | c.958 others(50): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 8/46 | chr2 | TogoVar |