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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(30): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 200 | 0.0050 | 37 | c.-45 others(48): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(30): Show |
upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 200 | 0.0050 | 37 | c.-45 others(48): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(30): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0110 | 1 | 45 | 0.0222 | 37 | c.-95 others(46): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(30): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0085 | 1 | 45 | 0.0222 | 37 | c.-95 others(46): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAT others(30): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0117 | 1 | 45 | 0.0222 | 37 | c.-95 others(46): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAATAT others(30): Show |
upstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0378 | 1 | 45 | 0.0222 | 37 | c.-95 others(46): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTG others(30): Show |
upstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 351 | 0.0028 | 37 | c.-20 others(48): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTG others(30): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 HG02683.hp1 HG03017.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 5 | 355 | 0.0141 | 37 | c.-20 others(48): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTT others(30): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 351 | 0.0028 | 37 | c.-20 others(48): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137518660 | T | TTCCACTC others(30): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0128 | 1 | 179 | 0.0056 | 37 | c.108 others(56): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131529915 | A | AGAGGGCT others(30): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02922.hp2 |
a0006 | a0006c0007a0006c0011 | a0006c0007t0001a0006c0011t0003 | a0006c0007t0001g0168 a0006c0011t0003g0169 |
2 | 176 | 0.0114 | 37 | c.101 others(56): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24921892 | T | TGTGTGTG others(30): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 156 | 0.0064 | 37 | c.416 others(56): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 35/36 | chrX | TogoVar | |||||||
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03486.hp2 NA18985.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 others(1): Show |
4 | 75 | 0.0533 | 37 | c.438 others(52): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
POLR2D_chr2_127838553_127863155 | 127838668 | T | TGCAATGG others(30): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 356 | 0.0028 | 37 | c.*94 others(48): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 4884 | chr2 | TogoVar | |||||||
POLR2E_chr19_1081574_1100375 | 1085551 | C | CTCTCTCC others(30): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0236 | 1 | 440 | 0.0023 | 37 | c.*31 others(48): Show |
POLR2E | ENSG00000099817.12 | transcript | ENST00000615234.5 | protein_coding | 1022 | chr19 | TogoVar | |||||||
POLR3E_chr16_22292409_22340096 | 22303639 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0088 |
2 | 243 | 0.0082 | 37 | c.36+ others(50): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
POMZP3_chr7_76604986_76632279 | 76615973 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0197 | 1 | 165 | 0.0061 | 37 | c.345 others(54): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75970938 | T | TTTTTATT others(30): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(73): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0002t0007a0001c0003t0001others(10): Show | a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0035 others(73): Show |
76 | 117 | 0.6496 | 37 | c.180 others(54): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75988652 | T | TTGGGGGG others(30): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0238 | 1 | 276 | 0.0036 | 37 | c.*21 others(48): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1798 | chr7 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13637004 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0085 | 1 | 386 | 0.0026 | 37 | c.141 others(56): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46174250 | G | GAAGGAAG others(30): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0019 | 1 | 197 | 0.0051 | 37 | c.-12 others(56): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(30): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0063 a0001c0001t0001g0115 a0001c0001t0001g0128 others(19): Show |
22 | 27 | 0.8148 | 37 | c.-12 others(56): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(30): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01106.hp1 others(19): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0077 a0001c0001t0001g0100 a0001c0001t0001g0186 others(19): Show |
22 | 27 | 0.8148 | 37 | c.-12 others(56): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(30): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0010 | 1 | 6 | 0.1667 | 37 | c.-12 others(56): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149750453 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 8 | 0.1250 | 37 | c.78+ others(54): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATATTA others(30): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0031 | 1 | 9 | 0.1111 | 37 | c.264 others(54): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81642647 | C | CATGTATA others(30): Show |
intron_variant | MODIFIER | NA19091.hp1 NA19091.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0168 a0001c0002t0001g0114 |
2 | 151 | 0.0132 | 37 | c.303 others(56): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81642647 | C | CATGTATG others(30): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 150 | 0.0067 | 37 | c.303 others(56): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPHLN1_chr12_42321167_42447181 | 42411355 | G | GGTCACTA others(30): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(77): Show |
80 | 373 | 0.2145 | 37 | c.909 others(56): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42411355 | G | GGTCACTA others(30): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 294 | 0.0034 | 37 | c.909 others(56): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPIAL4H_chr1_146339006_146349765 | 146345042 | C | CTTTCTTT others(30): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 412 | 0.0024 | 37 | c.-32 others(46): Show |
PPIAL4H | ENSG00000270339.4 | transcript | ENST00000584068.4 | protein_coding | 278 | chr1 | TogoVar | |||||||
PPIG_chr2_169579351_169646406 | 169606591 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0343 | 1 | 39 | 0.0256 | 37 | c.244 others(52): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPL_chr16_4877507_4942148 | 4920345 | G | GAGAGAGA others(30): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0017 | a0017c0074 | a0017c0074t0003 | a0017c0074t0003g0142 | 1 | 252 | 0.0040 | 37 | c.63- others(52): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 1/21 | chr16 | TogoVar | |||||||
PPM1L_chr3_160751231_161083902 | 160944803 | A | ATATATTA others(30): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0030 | 1 | 136 | 0.0074 | 37 | c.400 others(56): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPM1L_chr3_160751231_161083902 | 160970787 | A | ATTTTTTT others(30): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0101 | 1 | 150 | 0.0067 | 37 | c.574 others(54): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPP1CB_chr2_28746830_28807940 | 28785065 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 152 | 0.0066 | 37 | c.592 others(54): Show |
PPP1CB | ENSG00000213639.11 | transcript | ENST00000395366.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R12C_chr19_55085918_55122637 | 55097619 | C | CACAGTTC others(30): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00733.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0166 a0001c0001t0001g0226 others(14): Show |
33 | 384 | 0.0859 | 37 | c.951 others(54): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AGAGAGAG others(30): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0220 | 1 | 73 | 0.0137 | 37 | c.250 others(56): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | chr20 | TogoVar | |||||||
PPP2R2C_chr4_6315581_6477614 | 6336705 | C | CTCCCCTC others(30): Show |
intron_variant | MODIFIER | NA18962.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0094 |
2 | 275 | 0.0073 | 37 | c.791 others(54): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131939067 | T | TAAATACG others(30): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18974.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0196 a0002c0002t0002g0243 |
2 | 392 | 0.0051 | 37 | c.199 others(52): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131939088 | A | AGCAGACC others(30): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18973.hp2 NA19011.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0069 | a0001c0001t0001g0015 a0001c0001t0001g0321 a0001c0001t0069g0304 |
5 | 281 | 0.0178 | 37 | c.199 others(52): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131939088 | A | AGCAGACC others(30): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03195.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0047 | a0001c0001t0002g0245 a0001c0001t0002g0259 a0001c0001t0002g0260 others(1): Show |
4 | 280 | 0.0143 | 37 | c.199 others(52): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131939512 | A | AAACACGG others(30): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG02027.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0013 | a0002c0002t0002g0033 a0002c0002t0002g0222 a0002c0002t0002g0242 others(2): Show |
5 | 385 | 0.0130 | 37 | c.199 others(52): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131939549 | A | AAACACGG others(30): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0029 | 2 | 309 | 0.0065 | 37 | c.199 others(52): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131952568 | C | CTAGTGAC others(30): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0019 | 1 | 172 | 0.0058 | 37 | c.108 others(56): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131957660 | A | ACTGTGGA others(30): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0053 | a0001c0001t0008g0007 a0001c0001t0008g0026 a0001c0001t0008g0027 others(3): Show |
10 | 392 | 0.0255 | 37 | c.*17 others(48): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 1729 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R3B_chrX_328933_391907 | 368696 | C | CTGGGCAC others(30): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02015.hp1 HG02630.hp1 others(1): Show |
a0001a0002a0006 | a0001c0003a0002c0001a0006c0005 | a0001c0003t0001a0001c0003t0009a0002c0001t0002others(1): Show | a0001c0003t0001g0015 a0001c0003t0009g0005 a0002c0001t0002g0008 others(1): Show |
4 | 24 | 0.1667 | 37 | c.325 others(54): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
PPP2R5C_chr14_101756709_101932977 | 101924445 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02976.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0086 a0001c0001t0002g0124 a0001c0001t0006g0105 |
3 | 23 | 0.1304 | 37 | c.160 others(54): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PPP4R3C_chrX_27455207_27468341 | 27458637 | T | TGGCCGCC others(30): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02257.hp2 others(8): Show |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0000 | 11 | 323 | 0.0341 | 37 | c.*21 others(48): Show |
PPP4R3C | ENSG00000224960.5 | transcript | ENST00000412172.4 | protein_coding | 1569 | chrX | TogoVar | |||||||
PPP4R3C_chrX_27455207_27468341 | 27458830 | A | AAGGAAAA others(30): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0000 | 1 | 323 | 0.0031 | 37 | c.*19 others(48): Show |
PPP4R3C | ENSG00000224960.5 | transcript | ENST00000412172.4 | protein_coding | 1376 | chrX | TogoVar |