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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKCB_chr16_23830983_24225611 | 23866986 | CCCTTCCT others(18): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02258.hp2 HG03130.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0017a0001c0001t0019a0001c0001t0042others(8): Show | a0001c0001t0017g0070a0001c0001t0019g0146a0001c0001t0042g0001others(8): Show | 11 | 148 | 0.0743 | -25 | c.205 others(44): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23875500 | TATATATG others(18): Show |
T | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0008 | a0001c0008t0080 | a0001c0008t0080g0058 | 1 | 148 | 0.0068 | -25 | c.205 others(44): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23875723 | TCACACAT others(18): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0010a0001c0002t0083a0001c0003t0047others(6): Show | a0001c0001t0010g0053a0001c0002t0083g0068a0001c0003t0047g0055others(6): Show | 9 | 148 | 0.0608 | -25 | c.205 others(44): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCE_chr2_45646675_46192990 | 45744479 | TTCTTTCT others(18): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0072a0001c0003t0001g0073 | 2 | 168 | 0.0119 | -25 | c.348 others(44): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCE_chr2_45646675_46192990 | 45744483 | TTCTTTTT others(18): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0062 | 1 | 168 | 0.0060 | -25 | c.348 others(44): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCG_chr19_53877197_53912652 | 53878633 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02896.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0336a0001c0002t0001g0115 | 2 | 362 | 0.0055 | -25 | c.-38 others(36): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3563 | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53878635 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 362 | 0.0028 | -25 | c.-38 others(36): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3561 | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53878651 | ATATATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0048 | 1 | 362 | 0.0028 | -25 | c.-38 others(36): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3545 | chr19 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2048518 | GGAGGCCG others(18): Show |
G | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 286 | 0.0035 | -25 | c.-21 others(36): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 1892 | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2095724 | CCTCCCCA others(18): Show |
C | intron_variant | MODIFIER | HG02056.hp2 NA18997.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0143a0001c0002t0004g0144 | 2 | 286 | 0.0070 | -25 | c.334 others(44): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2122991 | AGGGTCGT others(18): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 286 | 0.0035 | -25 | c.335 others(44): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2177885 | AGCCCTGC others(18): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 286 | 0.0035 | -25 | c.157 others(44): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKD1_chr14_29571479_29932847 | 29598271 | CTAAAATA others(18): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01175.hp2 HG01884.hp1 others(16): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0006c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0064others(16): Show | 19 | 156 | 0.1218 | -25 | c.216 others(42): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 15/17 | chr14 | TogoVar | ||||||
PRKD1_chr14_29571479_29932847 | 29808373 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0084 | 1 | 156 | 0.0064 | -25 | c.265 others(44): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51381256 | TAAAAAAA others(18): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0003g0029a0001c0001t0005g0018a0001c0001t0008g0027others(2): Show | 5 | 64 | 0.0781 | -25 | c.479 others(44): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRKG1_chr10_51069487_52303350 | 52068024 | GAAACCCC others(18): Show |
G | intron_variant | MODIFIER | HG02109.hp1 NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0004 | a0001c0001t0001g0003a0001c0001t0008g0004a0001c0002t0004g0021 | 3 | 64 | 0.0469 | -25 | c.935 others(42): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRKN_chr6_161342417_162732766 | 161350774 | TATATTTT others(18): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 32 | 0.0313 | -25 | c.128 others(42): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 11/11 | chr6 | TogoVar | ||||||
PRLR_chr5_35050702_35235487 | 35194993 | GTGGGGGA others(18): Show |
G | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0036 | 1 | 214 | 0.0047 | -25 | c.-10 others(46): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
PROK1_chr1_110446149_110462358 | 110458039 | CTTTTTTT others(18): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00621.hp2 others(29): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 32 | 456 | 0.0702 | -25 | c.*16 others(36): Show |
PROK1 | ENSG00000143125.6 | transcript | ENST00000271331.4 | protein_coding | 682 | chr1 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11840940 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG03209.hp1 NA18971.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0006 | a0001c0001t0001g0017a0003c0004t0006g0158a0003c0004t0006g0196 | 3 | 348 | 0.0086 | -25 | c.-81 others(44): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PROSER2_chr10_11818356_11877277 | 11840942 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01515.hp2 HG02818.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0006 | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0062others(6): Show | 9 | 348 | 0.0259 | -25 | c.-81 others(44): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PROSER2_chr10_11818356_11877277 | 11840944 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0194 | 1 | 348 | 0.0029 | -25 | c.-81 others(44): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PROSER2_chr10_11818356_11877277 | 11840946 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0261a0001c0001t0003g0211 | 2 | 348 | 0.0058 | -25 | c.-81 others(44): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PROSER2_chr10_11818356_11877277 | 11840948 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0098a0001c0001t0001g0100a0001c0001t0001g0255others(2): Show | 5 | 348 | 0.0144 | -25 | c.-81 others(44): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRPF4_chr9_113270658_113297905 | 113285343 | ATTTTTTT others(18): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02027.hp1 HG02027.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0173a0001c0001t0001g0186others(11): Show | 28 | 426 | 0.0657 | -25 | c.750 others(40): Show |
PRPF4 | ENSG00000136875.13 | transcript | ENST00000374198.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRPF8_chr17_1645629_1689867 | 1689395 | AGTAGGGG others(18): Show |
A | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 291 | 0.0034 | -25 | c.-46 others(36): Show |
PRPF8 | ENSG00000174231.18 | transcript | ENST00000304992.11 | protein_coding | 4529 | chr17 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705582 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0032a0001c0001t0002g0008a0001c0001t0008g0058others(1): Show | 5 | 392 | 0.0128 | -25 | c.582 others(40): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705584 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp2 HG02976.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0096a0001c0001t0001g0119a0001c0001t0001g0122others(6): Show | 9 | 392 | 0.0230 | -25 | c.582 others(40): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705586 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0192 | 1 | 392 | 0.0026 | -25 | c.582 others(41): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
PRR14L_chr22_31676347_31755132 | 31733909 | CACACACA others(18): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0015 | a0015c0018 | a0015c0018t0016 | a0015c0018t0016g0011 | 1 | 316 | 0.0032 | -25 | c.474 others(42): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 2/8 | chr22 | TogoVar | ||||||
PRR16_chr5_120459300_120692314 | 120491417 | CCCTTTCC others(18): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02602.hp2 HG02723.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0136others(7): Show | 10 | 170 | 0.0588 | -25 | c.159 others(44): Show |
PRR16 | ENSG00000184838.15 | transcript | ENST00000407149.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PRRC1_chr5_127512640_127560085 | 127555498 | GAGTGGTC others(18): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02486.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0022 | a0001c0001t0008g0135a0001c0001t0008g0136a0001c0001t0008g0137others(6): Show | 9 | 340 | 0.0265 | -25 | c.*35 others(36): Show |
PRRC1 | ENSG00000164244.21 | transcript | ENST00000296666.13 | protein_coding | 414 | chr5 | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151703856 | GGTTTTTT others(18): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0135a0001c0001t0160 | a0001c0001t0135g0001a0001c0001t0160g0061 | 2 | 336 | 0.0060 | -25 | c.*28 others(36): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2824 | chrX | TogoVar | |||||
PRRG4_chr11_32824927_32863120 | 32839724 | ATTTTGAA others(18): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03579.hp1 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0069a0002c0003t0005g0071 | 2 | 402 | 0.0050 | -25 | c.317 others(40): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170691441 | ATTTCCTT others(18): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01433.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0037a0001c0001t0004g0039a0001c0001t0008g0036 | 3 | 356 | 0.0084 | -25 | c.241 others(44): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRUNE1_chr1_151003449_151040713 | 151004731 | AAAAATAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG01516.hp2 HG02074.hp2 HG04204.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0252a0001c0001t0001g0262a0002c0002t0001g0112 | 3 | 408 | 0.0074 | -25 | c.-39 others(36): Show |
PRUNE1 | ENSG00000143363.17 | transcript | ENST00000271620.8 | protein_coding | 3717 | chr1 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76897386 | ACCTCTTT others(18): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0186 | 1 | 240 | 0.0042 | -25 | c.36+ others(40): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
PRXL2B_chr1_2581777_2596468 | 2582582 | ATCTGGAA others(18): Show |
A | upstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 413 | 0.0024 | -25 | c.-43 others(36): Show |
PRXL2B | ENSG00000157870.17 | transcript | ENST00000419916.8 | protein_coding | 4194 | chr1 | TogoVar | ||||||
PSAT1_chr9_78292125_78335093 | 78306565 | AAGAACCA others(18): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 416 | 0.0024 | -25 | c.570 others(39): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18594121 | AATAATAT others(18): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG03195.hp1 HG03209.hp1 others(1): Show |
a0001a0002a0008 | a0001c0001a0001c0014a0002c0031others(1): Show | a0001c0001t0060a0001c0014t0020a0002c0031t0023others(1): Show | a0001c0001t0060g0175a0001c0014t0020g0179a0002c0031t0023g0192others(1): Show | 4 | 228 | 0.0175 | -25 | c.248 others(44): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865262 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0224 | 1 | 228 | 0.0044 | -25 | c.163 others(44): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865264 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 |
a0001 | a0001c0014 | a0001c0014t0013a0001c0014t0020 | a0001c0014t0013g0180a0001c0014t0020g0179 | 2 | 228 | 0.0088 | -25 | c.163 others(44): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865266 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0090 | 1 | 228 | 0.0044 | -25 | c.163 others(44): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73212088 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 378 | 0.0027 | -25 | c.112 others(42): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMA4_chr15_78535444_78557417 | 78541177 | TTTGATTC others(18): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01346.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022 | a0001c0001t0006g0007a0001c0001t0006g0099a0001c0001t0006g0100others(1): Show | 18 | 430 | 0.0419 | -25 | c.-24 others(40): Show |
PSMA4 | ENSG00000041357.16 | transcript | ENST00000044462.12 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PSMB2_chr1_35594541_35646526 | 35642214 | CAAAAAAA others(18): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01255.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0013a0001c0001t0005g0011a0001c0001t0005g0012 | 3 | 300 | 0.0100 | -25 | c.-80 others(34): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 689 | chr1 | TogoVar | ||||||
PSME3IP1_chr16_57147466_57191039 | 57149838 | CTTGTCTA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 364 | 0.0028 | -25 | c.*44 others(36): Show |
PSME3IP1 | ENSG00000172775.18 | transcript | ENST00000309137.13 | protein_coding | 2627 | chr16 | TogoVar | ||||||
PTBP3_chr9_112213435_112338619 | 112231952 | GAGAAGAG others(18): Show |
G | intron_variant | MODIFIER | NA18955.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124a0001c0001t0002g0187 | 2 | 342 | 0.0059 | -25 | c.102 others(42): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 9/13 | chr9 | TogoVar | ||||||
PTBP3_chr9_112213435_112338619 | 112277921 | CATAACAT others(18): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02965.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0118a0001c0001t0001g0189others(2): Show | 5 | 342 | 0.0146 | -25 | c.35- others(40): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 2/13 | chr9 | TogoVar | ||||||
PTCHD1_chrX_23329849_23409374 | 23342290 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0265 | 1 | 297 | 0.0034 | -25 | c.351 others(42): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar |