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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPHLN1_chr12_42321167_42447181 | 42350051 | AGGGCGGC others(33): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 326 | 0.0031 | -40 | c.73- others(55): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPIG_chr2_169579351_169646406 | 169644681 | ATGGTGTT others(33): Show |
A | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0112 | 1 | 380 | 0.0026 | -40 | c.*71 others(51): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 3276 | chr2 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706452 | CACACACA others(33): Show |
C | downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -40 | c.*36 others(51): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3545 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706454 | CACACACA others(33): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG02004.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show |
28 | 248 | 0.1129 | -40 | c.*36 others(51): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3543 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706456 | CACACACA others(33): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01261.hp2 HG02071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0084 |
4 | 407 | 0.0098 | -40 | c.*36 others(51): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3541 | chr1 | TogoVar | |||||||
PPP1R10_chr6_30595413_30622243 | 30615235 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 458 | 0.0022 | -40 | c.-12 others(57): Show |
PPP1R10 | ENSG00000204569.10 | transcript | ENST00000376511.7 | protein_coding | 2/19 | chr6 | TogoVar | |||||||
PPP1R12B_chr1_202343699_202597702 | 202451904 | CCAGACGG others(33): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0104 | 1 | 252 | 0.0040 | -40 | c.185 others(59): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPP1R8_chr1_27825782_27856676 | 27852676 | CCATCTAG others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 338 | 0.0030 | -40 | c.*22 others(51): Show |
PPP1R8 | ENSG00000117751.18 | transcript | ENST00000311772.10 | protein_coding | 1001 | chr1 | TogoVar | |||||||
PPP1R8_chr1_27825782_27856676 | 27852879 | AGAAGTGA others(33): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0026 others(28): Show |
59 | 338 | 0.1746 | -40 | c.*24 others(51): Show |
PPP1R8 | ENSG00000117751.18 | transcript | ENST00000311772.10 | protein_coding | 1204 | chr1 | TogoVar | |||||||
PPP2R2B_chr5_146575742_146883757 | 146772383 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0045 | a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0045g0029 |
3 | 7 | 0.4286 | -40 | c.71- others(57): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
PPP2R5A_chr1_212280410_212366853 | 212321434 | AGTGGCTG others(33): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0250 a0001c0001t0005g0322 a0001c0001t0005g0323 others(3): Show |
6 | 382 | 0.0157 | -40 | c.182 others(57): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPP2R5A_chr1_212280410_212366853 | 212321629 | GGGCGGCC others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01071.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(20): Show |
29 | 382 | 0.0759 | -40 | c.182 others(57): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPP2R5E_chr14_63366364_63548377 | 63522469 | GCCCGGCC others(33): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0248 | 1 | 250 | 0.0040 | -40 | c.157 others(59): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 2/13 | chr14 | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389362 | AACACACA others(33): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0172 others(2): Show |
5 | 63 | 0.0794 | -40 | c.135 others(57): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50338945 | TAGGGTGT others(33): Show |
T | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0218 | 1 | 338 | 0.0030 | -40 | c.-47 others(51): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 4381 | chr22 | TogoVar | |||||||
PRAMEF1_chr1_12786397_12801628 | 12789393 | CTTCCTTC others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp2 HG02015.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0021 | a0001c0001t0001g0001 a0002c0002t0021g0002 |
2 | 370 | 0.0054 | -40 | c.-21 others(51): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 2003 | chr1 | TogoVar | |||||||
PRAMEF33_chr1_13298539_13313907 | 13298821 | TGGCTGCC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | -40 | c.-47 others(51): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 4717 | chr1 | TogoVar | |||||||
PRAMEF33_chr1_13298539_13313907 | 13298829 | GGGTGGAG others(33): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0035 | a0035c0033 | a0035c0033t0008 | a0035c0033t0008g0071 | 1 | 416 | 0.0024 | -40 | c.-47 others(51): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 4709 | chr1 | TogoVar | |||||||
PRAMEF8_chr1_13276304_13290137 | 13280047 | AGAATGCT others(33): Show |
A | downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 332 | 0.0030 | -40 | c.*12 others(51): Show |
PRAMEF8 | ENSG00000182330.11 | transcript | ENST00000357367.7 | protein_coding | 1256 | chr1 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3110297 | CGGCTCCC others(33): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0004t0073 | a0001c0001t0013g0002 a0001c0004t0073g0143 |
2 | 206 | 0.0097 | -40 | c.37+ others(57): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM4_chr12_107727871_107766137 | 107762130 | GACAACAA others(33): Show |
G | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 388 | 0.0026 | -40 | c.-14 others(51): Show |
PRDM4 | ENSG00000110851.12 | transcript | ENST00000228437.10 | protein_coding | 994 | chr12 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089102 | TCTCTCTC others(33): Show |
T | upstream_gene_variant | MODIFIER | NA18982.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0015 | 1 | 306 | 0.0033 | -40 | c.-43 others(49): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 138 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089108 | TCTCTCTC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 NA21309.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0018a0002c0004t0082 | a0002c0002t0018g0235 a0002c0004t0082g0237 |
2 | 296 | 0.0068 | -40 | c.-42 others(49): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 132 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089110 | TCTCTCTC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG03540.hp1 NA18962.hp2 |
a0002a0003 | a0002c0006a0003c0005 | a0002c0006t0070a0003c0005t0004 | a0002c0006t0070g0025 a0003c0005t0004g0023 |
2 | 296 | 0.0068 | -40 | c.-42 others(49): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 130 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089116 | TCTCTCTC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG01258.hp2 HG03654.hp1 NA19005.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0074 a0002c0002t0001g0232 a0002c0002t0002g0277 |
3 | 261 | 0.0115 | -40 | c.-41 others(49): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 124 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089118 | TCTCTCTC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp1 HG03491.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0001 a0002c0002t0001g0269 |
2 | 301 | 0.0066 | -40 | c.-41 others(49): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 122 | chr5 | TogoVar | |||||||
PRDX3_chr10_119162720_119183812 | 119182617 | ACGCTCCT others(33): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(130): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(27): Show |
133 | 424 | 0.3137 | -40 | c.-38 others(51): Show |
PRDX3 | ENSG00000165672.7 | transcript | ENST00000298510.4 | protein_coding | 3806 | chr10 | TogoVar | |||||||
PREP_chr6_105268218_105408082 | 105374632 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02132.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0029others(20): Show | a0001c0001t0001g0098 a0001c0004t0001g0065 a0001c0004t0029g0186 others(27): Show |
30 | 38 | 0.7895 | -40 | c.386 others(57): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42477482 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG03239.hp1 HG03471.hp1 HG04184.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0018a0001c0003t0022others(1): Show | a0001c0003t0012g0250 a0001c0003t0012g0263 a0001c0003t0012g0264 others(5): Show |
8 | 80 | 0.1000 | -40 | c.-48 others(57): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42527916 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0292 | 1 | 261 | 0.0038 | -40 | c.-48 others(59): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151832226 | GGGAAGGA others(33): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0245 | 1 | 243 | 0.0041 | -40 | c.114 others(59): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23865491 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG02155.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0056a0001c0002t0018a0001c0002t0034others(3): Show | a0001c0001t0056g0109 a0001c0002t0018g0083 a0001c0002t0034g0084 others(3): Show |
6 | 143 | 0.0420 | -40 | c.205 others(59): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23865493 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0075 a0001c0001t0004g0086 a0001c0001t0005g0082 others(11): Show |
14 | 136 | 0.1029 | -40 | c.205 others(59): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23865495 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0083 | a0001c0002t0083g0068 | 1 | 134 | 0.0075 | -40 | c.205 others(59): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23865507 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0018 | 1 | 144 | 0.0069 | -40 | c.205 others(59): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23865509 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0020 | 1 | 145 | 0.0069 | -40 | c.205 others(59): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23866959 | CCCTTCCT others(33): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0002 | 1 | 146 | 0.0068 | -40 | c.205 others(59): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24058900 | GGATGGAG others(33): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01123.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(47): Show | a0001c0001t0002g0129 a0001c0001t0008g0054 a0001c0001t0010g0053 others(50): Show |
53 | 146 | 0.3630 | -40 | c.529 others(59): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744484 | TCTTTTTC others(33): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0092 | 1 | 163 | 0.0061 | -40 | c.348 others(59): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PRKCG_chr19_53877197_53912652 | 53880510 | GAGATTCA others(33): Show |
G | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 62 | 0.0161 | -40 | c.-19 others(51): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 1686 | chr19 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51393030 | TTGCCGGG others(33): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 64 | 0.0156 | -40 | c.479 others(59): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51393061 | GCGGGGCG others(33): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG01192.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0040 others(16): Show |
19 | 64 | 0.2969 | -40 | c.479 others(59): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161539398 | GGACCACC others(33): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp1 HG03516.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0002c0002t0003a0003c0005t0001 | a0001c0001t0001g0030 a0002c0002t0003g0019 a0003c0005t0001g0015 |
3 | 32 | 0.0938 | -40 | c.108 others(59): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162338928 | CCTCTGCC others(33): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 32 | 0.0313 | -40 | c.172 others(59): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRL_chr6_22282246_22302036 | 22293617 | GGGAAGGA others(33): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 44 | 0.0227 | -40 | c.204 others(55): Show |
PRL | ENSG00000172179.13 | transcript | ENST00000306482.2 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
PRPF19_chr11_60885547_60911585 | 60887080 | TAGCATGA others(33): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0022 | a0001c0002t0012g0022 a0001c0002t0022g0113 |
4 | 348 | 0.0115 | -40 | c.*40 others(51): Show |
PRPF19 | ENSG00000110107.9 | transcript | ENST00000227524.9 | protein_coding | 3466 | chr11 | TogoVar | |||||||
PRR12_chr19_49586182_49631439 | 49625393 | GCCCCAGC others(33): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02896.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0009a0001c0020 | a0001c0009t0002a0001c0020t0002 | a0001c0009t0002g0138 a0001c0009t0002g0139 a0001c0009t0002g0140 others(2): Show |
5 | 320 | 0.0156 | -40 | c.596 others(55): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRR16_chr5_120459300_120692314 | 120491417 | CCCTTTCC others(33): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01496.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 others(2): Show |
5 | 78 | 0.0641 | -40 | c.159 others(59): Show |
PRR16 | ENSG00000184838.15 | transcript | ENST00000407149.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRR20E_chr13_57162197_57175218 | 57165781 | TAATTGGC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0009 | 1 | 258 | 0.0039 | -40 | c.-16 others(51): Show |
PRR20E | ENSG00000234278.3 | transcript | ENST00000434815.1 | protein_coding | 1415 | chr13 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127281195 | CTGGTTTT others(33): Show |
C | downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | -40 | c.*28 others(51): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 2587 | chr3 | TogoVar |