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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRRG4_chr11_32824927_32863120 | 32837529 | GATGATGA others(11): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG03098.hp2 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019 | a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0019g0250 |
3 | 402 | 0.0075 | -18 | c.267 others(33): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32837532 | GATGATGA others(11): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01496.hp2 HG01975.hp2 others(17): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0001c0002t0007a0001c0002t0018others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0163 a0001c0002t0001g0164 others(11): Show |
20 | 402 | 0.0498 | -18 | c.267 others(33): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32837535 | GATGATGA others(11): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02486.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001 | a0001c0001t0009g0055 a0001c0001t0009g0056 a0001c0001t0009g0275 others(2): Show |
8 | 402 | 0.0199 | -18 | c.267 others(33): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32844467 | CTATTATT others(11): Show |
C | intron_variant | MODIFIER | HG04115.hp2 NA19068.hp2 NA19087.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0270 a0001c0002t0001g0239 a0001c0002t0001g0240 |
3 | 402 | 0.0075 | -18 | c.449 others(35): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRT1_chr6_32143363_32156939 | 32155584 | CTGTGTGT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01074.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 15 | 421 | 0.0356 | -18 | c.-37 others(29): Show |
PRRT1 | ENSG00000204314.12 | transcript | ENST00000211413.10 | protein_coding | 3646 | chr6 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128346636 | CTCTCTCT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG06807.hp2 |
a0002a0003 | a0002c0001a0003c0004 | a0002c0001t0001a0003c0004t0001 | a0002c0001t0001g0183 a0003c0004t0001g0015 |
2 | 448 | 0.0045 | -18 | c.*42 others(29): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3688 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128346638 | CTCTCTCT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01993.hp1 NA20905.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0099 a0002c0001t0001g0194 |
2 | 448 | 0.0045 | -18 | c.*42 others(29): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3686 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128346640 | CTCTCTCT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02293.hp1 HG03239.hp1 others(3): Show |
a0002a0004a0023 | a0002c0001a0004c0006a0023c0037 | a0002c0001t0001a0002c0001t0002a0004c0006t0001others(1): Show | a0002c0001t0001g0052 a0002c0001t0001g0174 a0002c0001t0001g0176 others(3): Show |
6 | 448 | 0.0134 | -18 | c.*41 others(29): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3684 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128346642 | CTCTCTCT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01070.hp2 HG01071.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0004 | a0001c0002t0002a0001c0002t0003a0002c0001t0001others(2): Show | a0001c0002t0002g0027 a0001c0002t0002g0251 a0001c0002t0003g0003 others(5): Show |
9 | 448 | 0.0201 | -18 | c.*41 others(29): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3682 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128346644 | CTCTCTCT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01358.hp1 HG02083.hp2 others(3): Show |
a0001a0002a0012 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0005t0001others(3): Show | a0001c0002t0002g0001 a0001c0002t0003g0003 a0001c0005t0001g0077 others(3): Show |
6 | 448 | 0.0134 | -18 | c.*41 others(29): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3680 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128346646 | CTCTCTCT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG02015.hp1 HG02027.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0027others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0003t0001others(5): Show | a0001c0002t0002g0072 a0001c0002t0003g0032 a0001c0002t0003g0063 others(6): Show |
9 | 448 | 0.0201 | -18 | c.*41 others(29): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3678 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128346648 | CTCTCTAT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02004.hp2 HG02258.hp1 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0002a0001c0002t0003a0001c0005t0005others(1): Show | a0001c0002t0002g0257 a0001c0002t0003g0065 a0001c0005t0005g0019 others(1): Show |
4 | 448 | 0.0089 | -18 | c.*41 others(29): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3676 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128346650 | CTCTATAT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp1 HG04184.hp1 NA18942.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0002a0001c0003t0001a0001c0005t0005others(3): Show | a0001c0002t0002g0068 a0001c0002t0002g0238 a0001c0003t0001g0026 others(5): Show |
8 | 448 | 0.0179 | -18 | c.*41 others(29): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3674 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128346652 | CTATATAT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01515.hp2 HG02895.hp1 NA18992.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0017others(1): Show | a0001c0002t0002a0001c0003t0001a0001c0017t0001others(1): Show | a0001c0002t0002g0027 a0001c0003t0001g0008 a0001c0017t0001g0033 others(1): Show |
4 | 448 | 0.0089 | -18 | c.*41 others(29): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 3672 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128357232 | ACACACTC others(11): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0180 | 1 | 448 | 0.0022 | -18 | c.877 others(35): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
PRRT4_chr7_128345325_128366690 | 128361091 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0097 | 1 | 448 | 0.0022 | -18 | c.-73 others(33): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 2/5 | chr7 | TogoVar | |||||||
PRRX1_chr1_170659131_170744421 | 170689821 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG01952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0195 others(5): Show |
8 | 356 | 0.0225 | -18 | c.241 others(37): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129684391 | GGAGACAC others(11): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 NA18951.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0136 others(8): Show |
11 | 358 | 0.0307 | -18 | c.259 others(37): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129715750 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0214 a0001c0001t0003g0307 a0001c0001t0004g0268 |
3 | 358 | 0.0084 | -18 | c.260 others(35): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129723680 | ACTTTCTT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01943.hp2 HG02148.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0081 a0001c0001t0001g0082 others(8): Show |
11 | 358 | 0.0307 | -18 | c.*13 others(29): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1007 | chr9 | TogoVar | |||||||
PRSS12_chr4_118275038_118358003 | 118299747 | AAATAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01517.hp1 HG03491.hp2 others(10): Show |
a0001a0002a0010 | a0001c0004a0002c0002a0010c0019 | a0001c0004t0001a0002c0002t0001a0002c0002t0022others(1): Show | a0001c0004t0001g0013 a0001c0004t0001g0259 a0001c0004t0001g0260 others(7): Show |
13 | 364 | 0.0357 | -18 | c.163 others(35): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
PRSS12_chr4_118275038_118358003 | 118357971 | TTTTCTTT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0234 | 1 | 364 | 0.0028 | -18 | c.-52 others(29): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 4969 | chr4 | TogoVar | |||||||
PRSS22_chr16_2847730_2863170 | 2849019 | AAGAAGCC others(11): Show |
A | downstream_gene_variant | MODIFIER | NA19076.hp2 | a0009 | a0009c0003 | a0009c0003t0001 | a0009c0003t0001g0027 | 1 | 412 | 0.0024 | -18 | c.*40 others(29): Show |
PRSS22 | ENSG00000005001.10 | transcript | ENST00000161006.8 | protein_coding | 3710 | chr16 | TogoVar | |||||||
PRSS33_chr16_2778953_2792560 | 2783471 | TAGCCCCT others(11): Show |
T | downstream_gene_variant | MODIFIER | NA18977.hp1 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0091 | 1 | 386 | 0.0026 | -18 | c.*11 others(29): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 481 | chr16 | TogoVar | |||||||
PRSS41_chr16_2793470_2810304 | 2802860 | GGGGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0008 | a0008c0021 | a0008c0021t0001 | a0008c0021t0001g0045 | 1 | 426 | 0.0024 | -18 | c.542 others(35): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRSS56_chr2_232515388_232530716 | 232520945 | AAACGGCC others(11): Show |
A | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0062 | 1 | 440 | 0.0023 | -18 | c.97+ others(31): Show |
PRSS56 | ENSG00000237412.7 | transcript | ENST00000617714.2 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PRSS57_chr19_680546_700452 | 680659 | GGGGGCGG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 442 | 0.0023 | -18 | c.*50 others(29): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 4886 | chr19 | TogoVar | |||||||
PRSS57_chr19_680546_700452 | 699325 | AGCCCTGC others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(118): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(73): Show |
121 | 442 | 0.2738 | -18 | c.-39 others(29): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3874 | chr19 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24895688 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0100 a0001c0001t0009g0095 |
2 | 338 | 0.0059 | -18 | c.340 others(37): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24934230 | AAGAAGAA others(11): Show |
A | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0337 | 1 | 338 | 0.0030 | -18 | c.339 others(35): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24952476 | CCAGGGAG others(11): Show |
C | intron_variant | MODIFIER | HG02165.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0331 | 1 | 338 | 0.0030 | -18 | c.48+ others(29): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55612697 | AATATATA others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | NA20805.hp1 | a0003 | a0003c0005 | a0003c0005t0048 | a0003c0005t0048g0036 | 1 | 284 | 0.0035 | -18 | c.*72 others(29): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 20/20 | 7297 | chr15 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55629367 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02723.hp1 HG03540.hp2 others(6): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0017 | a0001c0001t0001a0001c0001t0030a0001c0001t0042others(2): Show | a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0030g0092 others(6): Show |
9 | 284 | 0.0317 | -18 | c.262 others(35): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 15/19 | chr15 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55629369 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0133 | 1 | 284 | 0.0035 | -18 | c.262 others(35): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 15/19 | chr15 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55634947 | GCCATGTA others(11): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0008 | a0001c0008t0038 | a0001c0008t0038g0210 | 1 | 284 | 0.0035 | -18 | c.262 others(37): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 15/19 | chr15 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55670902 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01361.hp1 HG01433.hp2 others(11): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(10): Show | a0001c0001t0001g0182 a0001c0001t0008g0223 a0001c0001t0014g0167 others(11): Show |
14 | 284 | 0.0493 | -18 | c.204 others(37): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76776887 | AACACATA others(11): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0006 | a0006c0006 | a0006c0006t0008 | a0006c0006t0008g0006 a0006c0006t0008g0007 |
2 | 240 | 0.0083 | -18 | c.756 others(37): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40399887 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01934.hp1 HG01952.hp1 others(8): Show |
a0002a0007a0025 | a0002c0002a0007c0007a0025c0034 | a0002c0002t0001a0007c0007t0001a0025c0034t0001 | a0002c0002t0001g0100 a0002c0002t0001g0136 a0002c0002t0001g0137 others(8): Show |
11 | 306 | 0.0360 | -18 | c.185 others(35): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18544171 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01070.hp1 others(76): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0013others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0030 others(76): Show |
79 | 228 | 0.3465 | -18 | c.292 others(37): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 15/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18803389 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02970.hp1 |
a0002a0004 | a0002c0007a0004c0009 | a0002c0007t0027a0004c0009t0012 | a0002c0007t0027g0168 a0004c0009t0012g0153 |
2 | 228 | 0.0088 | -18 | c.191 others(37): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18838802 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03654.hp2 |
a0004 | a0004c0009 | a0004c0009t0009a0004c0009t0076 | a0004c0009t0009g0028 a0004c0009t0076g0155 |
2 | 228 | 0.0088 | -18 | c.163 others(39): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865224 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02300.hp2 HG02602.hp1 HG02602.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0074a0003c0004t0035a0003c0004t0041others(1): Show | a0001c0001t0074g0006 a0003c0004t0035g0020 a0003c0004t0041g0123 others(1): Show |
4 | 228 | 0.0175 | -18 | c.163 others(37): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18879037 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0003 | a0002c0003t0067 | a0002c0003t0067g0138 | 1 | 228 | 0.0044 | -18 | c.131 others(35): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18916297 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02615.hp2 HG02809.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0022a0001c0001t0028a0001c0001t0052others(5): Show | a0001c0001t0022g0193 a0001c0001t0028g0040 a0001c0001t0052g0203 others(5): Show |
8 | 228 | 0.0351 | -18 | c.130 others(37): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18991337 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01256.hp1 HG02698.hp2 others(1): Show |
a0001a0010 | a0001c0001a0010c0026 | a0001c0001t0001a0001c0001t0063a0010c0026t0028 | a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0001t0063g0092 others(1): Show |
4 | 228 | 0.0175 | -18 | c.21+ others(35): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
PSD4_chr2_113168971_113214391 | 113204995 | TCTCGCTC others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0004 | a0002c0004t0103 | a0002c0004t0103g0099 | 1 | 380 | 0.0026 | -18 | c.*35 others(29): Show |
PSD4 | ENSG00000125637.16 | transcript | ENST00000245796.11 | protein_coding | 17/17 | 3583 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSEN1_chr14_73131507_73228691 | 73202417 | ACTATATA others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0285 a0001c0001t0007g0288 a0001c0001t0007g0370 |
3 | 378 | 0.0079 | -18 | c.869 others(35): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73202446 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG02615.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0026 | a0001c0001t0002g0328 a0001c0001t0007g0286 a0001c0001t0007g0290 others(1): Show |
4 | 378 | 0.0106 | -18 | c.869 others(35): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73202448 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 378 | 0.0027 | -18 | c.869 others(35): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73212088 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0268 | 1 | 378 | 0.0027 | -18 | c.112 others(35): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |