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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP3CA_chr4_101018418_101352526 | 101124725 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02300.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0019 | a0001c0001t0002g0071a0001c0001t0009g0012a0001c0002t0019g0096others(1): Show | 4 | 192 | 0.0208 | -12 | c.260 others(31): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101162560 | TAAATAAA others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00733.hp2 others(59): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(35): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(59): Show | 62 | 192 | 0.3229 | -12 | c.259 others(31): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101269553 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0048 | 1 | 192 | 0.0052 | -12 | c.59- others(29): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101285591 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0103 | 1 | 192 | 0.0052 | -12 | c.58+ others(29): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101285599 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0031a0001c0001t0050 | a0001c0001t0015g0007a0001c0001t0031g0006a0001c0001t0050g0022 | 3 | 192 | 0.0156 | -12 | c.58+ others(29): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101289870 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0012a0001c0001t0018others(4): Show | a0001c0001t0002g0050a0001c0001t0012g0110a0001c0001t0012g0111others(7): Show | 10 | 192 | 0.0521 | -12 | c.58+ others(29): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101292081 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0001t0020a0001c0001t0023others(4): Show | a0001c0001t0012g0110a0001c0001t0012g0111a0001c0001t0012g0113others(8): Show | 11 | 192 | 0.0573 | -12 | c.58+ others(29): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101298841 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 192 | 0.0052 | -12 | c.58+ others(29): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101324154 | GAGGAAGG others(5): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0028others(6): Show | a0001c0001t0001g0186a0001c0001t0027g0002a0001c0001t0028g0001others(6): Show | 9 | 192 | 0.0469 | -12 | c.58+ others(29): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101348971 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0008 | 1 | 192 | 0.0052 | -12 | c.-21 others(23): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 1446 | chr4 | TogoVar | ||||||
PPP3CB_chr10_73431433_73501024 | 73436017 | ATGTGTGT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 202 | 0.0050 | -12 | c.*22 others(23): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 415 | chr10 | TogoVar | ||||||
PPP3CB_chr10_73431433_73501024 | 73443250 | AAGAGAGA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 202 | 0.0050 | -12 | c.136 others(31): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
PPP3CB_chr10_73431433_73501024 | 73443274 | AAGAAAGA others(5): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 202 | 0.0050 | -12 | c.136 others(31): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
PPP3CB_chr10_73431433_73501024 | 73443286 | CAGAAAGA others(5): Show |
C | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 202 | 0.0050 | -12 | c.136 others(31): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
PPP3CB_chr10_73431433_73501024 | 73451742 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0043 | 1 | 202 | 0.0050 | -12 | c.118 others(31): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 10/13 | chr10 | TogoVar | ||||||
PPP3CB_chr10_73431433_73501024 | 73481165 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 | 1 | 202 | 0.0050 | -12 | c.86- others(27): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
PPP3CB_chr10_73431433_73501024 | 73485908 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0193others(3): Show | 6 | 202 | 0.0297 | -12 | c.86- others(27): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
PPP3CB_chr10_73431433_73501024 | 73491022 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 202 | 0.0050 | -12 | c.85+ others(27): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
PPP3CB_chr10_73431433_73501024 | 73494275 | GTTTTGTT others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 202 | 0.0050 | -12 | c.85+ others(27): Show |
PPP3CB | ENSG00000107758.16 | transcript | ENST00000360663.10 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
PPP3CC_chr8_22436078_22546125 | 22450799 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG01361.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0099a0001c0001t0001g0118a0001c0001t0001g0126others(20): Show | 23 | 326 | 0.0706 | -12 | c.49+ others(27): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22457007 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00597.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0289a0001c0001t0003g0001a0001c0001t0003g0009others(16): Show | 20 | 326 | 0.0614 | -12 | c.49+ others(29): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22457015 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0055a0001c0001t0009g0056a0001c0001t0009g0057others(3): Show | 6 | 326 | 0.0184 | -12 | c.49+ others(29): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22470059 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 326 | 0.0031 | -12 | c.50- others(27): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22472363 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 326 | 0.0031 | -12 | c.50- others(27): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22496485 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036a0001c0001t0003g0037 | 2 | 326 | 0.0061 | -12 | c.373 others(29): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22525491 | CTTCTTTC others(5): Show |
C | intron_variant | MODIFIER | HG03669.hp1 HG06807.hp1 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0113a0001c0001t0001g0200a0001c0001t0001g0211others(1): Show | 4 | 326 | 0.0123 | -12 | c.944 others(29): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22525531 | TTTCTTTC others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037a0001c0001t0003g0048a0001c0001t0003g0049 | 3 | 326 | 0.0092 | -12 | c.944 others(29): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 8/13 | chr8 | TogoVar | ||||||
PPP3CC_chr8_22436078_22546125 | 22525532 | TTCTTTCT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00642.hp2 others(60): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0004a0001c0001t0002g0085a0001c0001t0002g0096others(58): Show | 63 | 326 | 0.1933 | -12 | c.944 others(29): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22525552 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG03195.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0009 | a0001c0001t0003g0034a0001c0001t0004g0197a0001c0001t0009g0056 | 3 | 326 | 0.0092 | -12 | c.944 others(29): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22541799 | ATGGTCCC others(5): Show |
A | downstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 326 | 0.0031 | -12 | c.*99 others(22): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 675 | chr8 | TogoVar | ||||||
PPP3R1_chr2_68173857_68257532 | 68202406 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0260 | 1 | 398 | 0.0025 | -12 | c.44- others(29): Show |
PPP3R1 | ENSG00000221823.11 | transcript | ENST00000234310.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
PPP3R1_chr2_68173857_68257532 | 68209356 | CTCAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0057a0001c0001t0021g0055 | 2 | 398 | 0.0050 | -12 | c.43+ others(27): Show |
PPP3R1 | ENSG00000221823.11 | transcript | ENST00000234310.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
PPP3R1_chr2_68173857_68257532 | 68209358 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0045 | 1 | 398 | 0.0025 | -12 | c.43+ others(27): Show |
PPP3R1 | ENSG00000221823.11 | transcript | ENST00000234310.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
PPP3R1_chr2_68173857_68257532 | 68229973 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01123.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0011a0001c0001t0015others(10): Show | a0001c0001t0006g0046a0001c0001t0006g0047a0001c0001t0006g0048others(37): Show | 40 | 398 | 0.1005 | -12 | c.4-1 others(27): Show |
PPP3R1 | ENSG00000221823.11 | transcript | ENST00000234310.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
PPP3R2_chr9_101586604_101599969 | 101590346 | CTATTTAT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG03195.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0011g0000others(2): Show | 8 | 448 | 0.0179 | -12 | c.*40 others(23): Show |
PPP3R2 | ENSG00000188386.8 | transcript | ENST00000374806.2 | protein_coding | 1257 | chr9 | TogoVar | ||||||
PPP4R1_chr18_9541794_9619559 | 9561218 | CTAATAAT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02965.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0032others(7): Show | 11 | 388 | 0.0284 | -12 | c.184 others(29): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 13/19 | chr18 | TogoVar | ||||||
PPP4R1_chr18_9541794_9619559 | 9564729 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 388 | 0.0026 | -12 | c.157 others(31): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 11/19 | chr18 | TogoVar | ||||||
PPP4R1_chr18_9541794_9619559 | 9566648 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00738.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0032others(37): Show | 40 | 388 | 0.1031 | -12 | c.157 others(31): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 11/19 | chr18 | TogoVar | ||||||
PPP4R1_chr18_9541794_9619559 | 9605566 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(96): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0010t0001 | a0002c0002t0001g0004a0002c0002t0001g0008a0002c0002t0001g0009others(93): Show | 99 | 388 | 0.2552 | -12 | c.52+ others(27): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 2/19 | chr18 | TogoVar | ||||||
PPP4R2_chr3_72991811_73074198 | 73004863 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 360 | 0.0028 | -12 | c.116 others(29): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP4R2_chr3_72991811_73074198 | 73004867 | GTGTTTGT others(5): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0096a0001c0002t0013g0097 | 2 | 360 | 0.0056 | -12 | c.116 others(29): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP4R2_chr3_72991811_73074198 | 73004944 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02155.hp2 HG02615.hp1 others(3): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0018a0001c0002t0003a0004c0007t0003others(1): Show | a0001c0001t0018g0192a0001c0001t0018g0194a0001c0001t0018g0195others(3): Show | 6 | 360 | 0.0167 | -12 | c.116 others(29): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP4R2_chr3_72991811_73074198 | 73055417 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp2 HG03225.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010a0001c0002t0011others(2): Show | a0001c0002t0003g0026a0001c0002t0003g0040a0001c0002t0003g0065others(8): Show | 11 | 360 | 0.0306 | -12 | c.288 others(29): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP4R2_chr3_72991811_73074198 | 73065103 | CAGAAGAG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG00609.hp1 NA18978.hp2 |
a0004 | a0004c0007a0004c0011 | a0004c0007t0003a0004c0011t0001 | a0004c0007t0003g0010a0004c0011t0001g0294 | 2 | 360 | 0.0056 | -12 | c.906 others(19): Show |
p.Glu others(13): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 8/9 | 1133/4957 | 906/1254 | 302/417 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
PPP4R2_chr3_72991811_73074198 | 73067439 | GACTGTCA others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0251 | 1 | 360 | 0.0028 | -12 | c.*17 others(23): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 9/9 | 1720 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
PPP4R3A_chr14_91452508_91515310 | 91455166 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(102): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0164a0001c0001t0001g0165others(100): Show | 105 | 370 | 0.2838 | -12 | c.*35 others(23): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 2341 | chr14 | TogoVar | ||||||
PPP4R3A_chr14_91452508_91515310 | 91466214 | AAGTTAAT others(5): Show |
A | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 370 | 0.0027 | -12 | c.166 others(29): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 10/14 | chr14 | TogoVar | ||||||
PPP4R3A_chr14_91452508_91515310 | 91479293 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | NA20300.hp2 NA21309.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0356a0001c0006t0001g0357 | 2 | 370 | 0.0054 | -12 | c.915 others(29): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 4/14 | chr14 | TogoVar | ||||||
PPP4R3A_chr14_91452508_91515310 | 91493459 | CTCTAGAC others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0164a0001c0001t0001g0165others(36): Show | 40 | 370 | 0.1081 | -12 | c.143 others(29): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar | ||||||
PPP4R3A_chr14_91452508_91515310 | 91497341 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 | 1 | 370 | 0.0027 | -12 | c.143 others(29): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar |