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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIMREG_chr17_6439455_6456469 | 6451767 | ATGATTTT others(40): Show |
A | downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 310 | 0.0032 | -47 | c.*14 others(58): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 299 | chr17 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3683883 | TCCCCCAC others(40): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02630.hp2 others(1): Show |
a0002a0003a0007 | a0002c0004a0003c0005a0007c0024 | a0002c0004t0006a0003c0005t0036a0007c0024t0038 | a0002c0004t0006g0172 a0002c0004t0006g0223 a0003c0005t0036g0174 others(1): Show |
4 | 330 | 0.0121 | -47 | c.94+ others(64): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314984 | AAGGAAGG others(40): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0281 | 1 | 302 | 0.0033 | -47 | c.349 others(66): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314997 | AGGAAGGA others(40): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG00741.hp1 others(13): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0078 others(12): Show |
16 | 278 | 0.0576 | -47 | c.349 others(66): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109380177 | CCTCTTGT others(40): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02895.hp2 |
a0001a0018 | a0001c0001a0018c0019 | a0001c0001t0002a0018c0019t0004 | a0001c0001t0002g0195 a0018c0019t0004g0177 |
2 | 280 | 0.0071 | -47 | c.164 others(64): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKLR_chr1_155284293_155306438 | 155298953 | CCTTTCTT others(40): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0132 | 1 | 214 | 0.0047 | -47 | c.283 others(64): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32858106 | TATATATA others(40): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01346.hp1 HG02698.hp1 others(1): Show |
a0002a0009 | a0002c0002a0009c0020 | a0002c0002t0001a0002c0002t0002a0009c0020t0001 | a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0002g0238 others(1): Show |
4 | 340 | 0.0118 | -47 | c.117 others(66): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402186 | CGGCCCCG others(40): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0025 | 1 | 214 | 0.0047 | -47 | c.173 others(64): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402419 | CGGCCCCG others(40): Show |
C | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0102 | 1 | 213 | 0.0047 | -47 | c.173 others(64): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLAC1_chrX_134560838_134663471 | 134603289 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 250 | 0.0040 | -47 | c.-13 others(66): Show |
PLAC1 | ENSG00000170965.10 | transcript | ENST00000359237.9 | protein_coding | 1/2 | chrX | TogoVar | |||||||
PLCB4_chr20_9064087_9485808 | 9413339 | CCAGTGGC others(40): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0012a0001c0003t0001 | a0001c0001t0003g0060 a0001c0001t0012g0117 a0001c0003t0001g0135 |
3 | 138 | 0.0217 | -47 | c.205 others(66): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 25/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764864 | AAAGAAAG others(40): Show |
A | intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0242 | 1 | 291 | 0.0034 | -47 | c.-31 others(66): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764867 | GAAAGAAA others(40): Show |
G | intron_variant | MODIFIER | NA18942.hp2 NA19062.hp1 |
a0002 | a0002c0003a0002c0017 | a0002c0003t0003a0002c0017t0005 | a0002c0003t0003g0164 a0002c0017t0005g0168 |
2 | 291 | 0.0069 | -47 | c.-31 others(66): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLEKHG1_chr6_150594885_150848665 | 150810496 | GAGGGAAA others(40): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01256.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0001a0001c0002t0016a0001c0004t0004others(5): Show | a0001c0002t0001g0113 a0001c0002t0016g0221 a0001c0004t0004g0248 others(6): Show |
9 | 231 | 0.0390 | -47 | c.127 others(64): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 282439 | ACCTGCCA others(40): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02129.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184 a0001c0001t0002g0008 a0001c0001t0002g0103 |
3 | 351 | 0.0085 | -47 | c.541 others(62): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56520592 | AGTGGCTC others(40): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00738.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0228 a0001c0001t0002g0318 a0001c0001t0003g0135 others(30): Show |
33 | 334 | 0.0988 | -47 | c.633 others(64): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
PLPP4_chr10_120452227_120597065 | 120592607 | CCCAGCCC others(40): Show |
C | downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0083 | 1 | 326 | 0.0031 | -47 | c.*31 others(58): Show |
PLPP4 | ENSG00000203805.11 | transcript | ENST00000398250.6 | protein_coding | 543 | chr10 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137536849 | CACTTCAT others(40): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG02970.hp2 others(1): Show |
a0009a0015a0023others(1): Show | a0009c0013a0015c0014a0023c0028others(1): Show | a0009c0013t0001a0015c0014t0001a0023c0028t0001others(1): Show | a0009c0013t0001g0151 a0015c0014t0001g0168 a0023c0028t0001g0172 others(1): Show |
4 | 186 | 0.0215 | -47 | c.747 others(64): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 8/34 | chr9 | TogoVar | |||||||
POTEB3_chr15_21400401_21445499 | 21410726 | GGTGTGTG others(40): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0005 | a0001c0005t0020 | a0001c0005t0020g0043 | 1 | 41 | 0.0244 | -47 | c.153 others(64): Show |
POTEB3 | ENSG00000278522.5 | transcript | ENST00000611217.5 | protein_coding | 10/10 | chr15 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70220908 | TATAATAT others(40): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01175.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0046 others(9): Show |
15 | 403 | 0.0372 | -47 | c.124 others(64): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPM1H_chr12_62638994_62940150 | 62817116 | TAAAAAAA others(40): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0136 a0001c0001t0007g0194 |
2 | 221 | 0.0090 | -47 | c.411 others(66): Show |
PPM1H | ENSG00000111110.12 | transcript | ENST00000228705.7 | protein_coding | 2/9 | chr12 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706430 | TACACACA others(40): Show |
T | downstream_gene_variant | MODIFIER | HG02698.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0060 |
2 | 407 | 0.0049 | -47 | c.*36 others(58): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3567 | chr1 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38896140 | TTTCCTTC others(40): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03579.hp2 HG03688.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0004 a0001c0002t0002g0148 a0001c0002t0002g0184 others(2): Show |
5 | 234 | 0.0214 | -47 | c.467 others(62): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PPP1R37_chr19_45088179_45152285 | 45089423 | TTCCAGAT others(40): Show |
T | upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 340 | 0.0029 | -47 | c.-39 others(58): Show |
PPP1R37 | ENSG00000104866.11 | transcript | ENST00000221462.9 | protein_coding | 3755 | chr19 | TogoVar | |||||||
PPP2R5D_chr6_42979570_43017342 | 42998029 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 | 1 | 304 | 0.0033 | -47 | c.105 others(64): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R5D_chr6_42979570_43017342 | 42998031 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG02258.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175 a0001c0001t0004g0178 |
2 | 303 | 0.0066 | -47 | c.105 others(64): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R5E_chr14_63366364_63548377 | 63377788 | CCCTGAAA others(40): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 250 | 0.0040 | -47 | c.130 others(66): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 13/13 | chr14 | TogoVar | |||||||
PPP3CA_chr4_101018418_101352526 | 101106449 | GAAAGAGA others(40): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015a0001c0001t0057 | a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0014 others(3): Show |
6 | 186 | 0.0323 | -47 | c.384 others(64): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389358 | TCAAAACA others(40): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 391 | 0.0026 | -47 | c.135 others(64): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46394679 | GCAGTTTA others(40): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0190 | 1 | 392 | 0.0026 | -47 | c.*43 others(58): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 3705 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50425713 | GGTGTCTC others(40): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 338 | 0.0030 | -47 | c.112 others(66): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPTC7_chr12_110528245_110588318 | 110564772 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01175.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0285 others(27): Show |
30 | 297 | 0.1010 | -47 | c.224 others(66): Show |
PPTC7 | ENSG00000196850.6 | transcript | ENST00000354300.5 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41813936 | CCTCGTGT others(40): Show |
C | intron_variant | MODIFIER | HG02630.hp1 NA19030.hp2 NA21309.hp2 |
a0001 | a0001c0006a0001c0025 | a0001c0006t0013a0001c0025t0013 | a0001c0006t0013g0032 a0001c0006t0013g0055 a0001c0025t0013g0030 |
3 | 401 | 0.0075 | -47 | c.239 others(66): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 19/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41814520 | GGTGCTCT others(40): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
a0001a0002a0010 | a0001c0004a0001c0006a0001c0014others(9): Show | a0001c0004t0003a0001c0006t0005a0001c0014t0003others(14): Show | a0001c0004t0003g0010 a0001c0004t0003g0062 a0001c0004t0003g0111 others(62): Show |
66 | 404 | 0.1634 | -47 | c.239 others(66): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 19/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41844717 | CACACACA others(40): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp1 HG01346.hp2 others(10): Show |
a0001a0006 | a0001c0003a0006c0029 | a0001c0003t0001a0001c0003t0035a0006c0029t0001 | a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0082 others(10): Show |
13 | 404 | 0.0322 | -47 | c.640 others(64): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3287226 | AGCCACGC others(40): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03453.hp2 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0045a0001c0004t0004a0001c0004t0007others(1): Show | a0001c0001t0045g0024 a0001c0004t0004g0051 a0001c0004t0007g0063 others(1): Show |
4 | 201 | 0.0199 | -47 | c.438 others(66): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93737431 | AGGTGGGA others(40): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA19043.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0002 | a0001c0005t0001g0216 a0001c0006t0002g0214 |
2 | 395 | 0.0051 | -47 | c.230 others(61): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
PRKAA1_chr5_40754389_40803374 | 40800548 | GGGGGGGT others(40): Show |
G | upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 400 | 0.0025 | -47 | c.-24 others(58): Show |
PRKAA1 | ENSG00000132356.12 | transcript | ENST00000397128.7 | protein_coding | 2175 | chr5 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151841708 | GATGGTAG others(40): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01243.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(3): Show | a0001c0001t0001g0119 a0001c0001t0001g0148 a0001c0001t0002g0051 others(4): Show |
7 | 250 | 0.0280 | -47 | c.114 others(66): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151842033 | GTGATGGT others(40): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01516.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0112 others(1): Show |
4 | 250 | 0.0160 | -47 | c.114 others(66): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151842156 | TGATGGTA others(40): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(71): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0035 others(71): Show |
74 | 250 | 0.2960 | -47 | c.114 others(66): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23866968 | CCCTTCCT others(40): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0026 | 1 | 140 | 0.0071 | -47 | c.205 others(66): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744453 | CTTTCTTT others(40): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG02055.hp2 HG02602.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0088 a0001c0001t0002g0005 a0001c0001t0002g0059 others(10): Show |
13 | 166 | 0.0783 | -47 | c.348 others(66): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122302 | CGGTGGTA others(40): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02735.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0159 a0001c0003t0001g0137 |
2 | 221 | 0.0090 | -47 | c.335 others(66): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122305 | TGGTAGGG others(40): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0197 a0001c0003t0001g0111 a0001c0003t0001g0259 others(3): Show |
6 | 232 | 0.0259 | -47 | c.335 others(66): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122418 | CGGTGGTA others(40): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234 | 1 | 206 | 0.0049 | -47 | c.335 others(66): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122965 | ATGGTGGT others(40): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02056.hp2 NA18942.hp1 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0002t0004a0001c0004t0001others(1): Show | a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0143 others(7): Show |
10 | 275 | 0.0364 | -47 | c.335 others(66): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122980 | GTCACGGT others(40): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 | 1 | 266 | 0.0038 | -47 | c.335 others(66): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154159 | CGGGGGAG others(40): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 NA18960.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0001g0141 |
4 | 367 | 0.0109 | -47 | c.-45 others(58): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4488 | chr13 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150333338 | TCACCTGA others(40): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 360 | 0.0028 | -47 | c.728 others(62): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 6/15 | chr1 | TogoVar |