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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLXNA2_chr1_208017242_208249384 | 208209983 | A | AATTTTTT others(30): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18975.hp1 NA18980.hp1 others(2): Show |
a0002a0004a0009 | a0002c0002a0004c0006a0004c0008others(1): Show | a0002c0002t0009a0002c0002t0095a0004c0006t0013others(2): Show | a0002c0002t0009g0267a0002c0002t0095g0285a0004c0006t0013g0243others(2): Show | 5 | 312 | 0.0160 | 37 | c.137 others(54): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 3/31 | chr1 | TogoVar | ||||||
PM20D1_chr1_205823025_205855132 | 205853436 | A | ATATATAT others(30): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0016 | a0002c0016t0003 | a0002c0016t0003g0008 | 1 | 416 | 0.0024 | 37 | c.-33 others(48): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3305 | chr1 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(30): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 330 | 0.0030 | 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 | 330 | 0.0030 | 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 | a0003 | a0003c0004 | a0003c0004t0012 | a0003c0004t0012g0111 | 1 | 408 | 0.0025 | 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 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0086 | 1 | 408 | 0.0025 | 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 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0118 | 1 | 408 | 0.0025 | 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 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0380 | 1 | 408 | 0.0025 | 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 | 454 | 0.0022 | 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 | 454 | 0.0110 | 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 | 454 | 0.0022 | 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 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0128 | 1 | 188 | 0.0053 | 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 | a0006c0007t0001g0170a0006c0011t0003g0171 | 2 | 440 | 0.0046 | 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 | 197 | 0.0051 | 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 | a0001c0001t0002g0166a0001c0001t0002g0167a0001c0001t0002g0168others(1): Show | 4 | 340 | 0.0118 | 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 | a0001c0001t0001g0039 | 1 | 358 | 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 | a0001c0001t0074g0298 | 1 | 442 | 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 | a0001c0001t0001g0087a0001c0001t0001g0088 | 2 | 358 | 0.0056 | 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 | a0000 | a0000c0010 | a0000c0010t0003 | a0000c0010t0003g0193 | 1 | 423 | 0.0024 | 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(74): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0002t0007a0001c0003t0001others(10): Show | a0001c0002t0001g0050a0001c0002t0001g0052a0001c0002t0001g0059others(74): Show | 77 | 278 | 0.2770 | 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 | a0001c0007t0001g0237 | 1 | 278 | 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 | a0004c0005t0002g0086 | 1 | 416 | 0.0024 | 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 | a0001c0001t0015 | a0001c0001t0015g0019 | 1 | 200 | 0.0050 | 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(11): Show | a0001c0001t0001g0073a0001c0001t0002g0063a0001c0001t0002g0098others(19): Show | 22 | 200 | 0.1100 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0068a0001c0001t0001g0090a0001c0001t0001g0193others(19): Show | 22 | 200 | 0.1100 | 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 | a0001c0001t0071 | a0001c0001t0071g0010 | 1 | 200 | 0.0050 | 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 | a0001c0001t0003g0171 | 1 | 320 | 0.0031 | 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 | a0001c0003t0003g0036 | 1 | 282 | 0.0036 | 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 | a0001c0001t0001g0168a0001c0002t0001g0114 | 2 | 168 | 0.0119 | 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 | 168 | 0.0060 | 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 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 80 | 376 | 0.2128 | 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 | 376 | 0.0027 | 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 | 416 | 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 | a0001c0001t0005g0344 | 1 | 382 | 0.0026 | 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 | a0020 | a0020c0074 | a0020c0074t0003 | a0020c0074t0003g0144 | 1 | 372 | 0.0027 | 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 | 206 | 0.0049 | 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 | 206 | 0.0049 | 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 | a0001c0002t0002g0170 | 1 | 366 | 0.0027 | 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 | a0001c0001t0001g0034a0001c0001t0001g0175a0001c0001t0001g0238others(16): Show | 33 | 390 | 0.0846 | 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 | 244 | 0.0041 | 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 | a0001c0001t0001g0003a0001c0001t0001g0092 | 2 | 298 | 0.0067 | 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 | a0002c0002t0001 | a0002c0002t0001g0198a0002c0002t0001g0251 | 2 | 394 | 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 | a0001c0001t0002a0001c0001t0094 | a0001c0001t0002g0010a0001c0001t0002g0336a0001c0001t0094g0315 | 5 | 394 | 0.0127 | 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 | a0001c0001t0001a0001c0001t0025a0001c0001t0060 | a0001c0001t0001g0267a0001c0001t0001g0268a0001c0001t0025g0253others(1): Show | 4 | 394 | 0.0102 | 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 | a0002c0002t0001a0002c0002t0012 | a0002c0002t0001g0210a0002c0002t0001g0222a0002c0002t0001g0250others(2): Show | 5 | 394 | 0.0127 | 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 | a0001c0001t0023 | a0001c0001t0023g0024 | 2 | 394 | 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 | 131952568 | C | CTAGTGAC others(30): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0092 | 1 | 394 | 0.0025 | 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 | a0001c0001t0010a0001c0001t0066a0001c0001t0067 | a0001c0001t0010g0004a0001c0001t0010g0020a0001c0001t0010g0021others(3): Show | 10 | 394 | 0.0254 | 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 |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0005 | a0001c0001t0001a0002c0002t0002a0002c0002t0012others(1): Show | a0001c0001t0001g0022a0002c0002t0002g0014a0002c0002t0012g0008others(1): Show | 4 | 25 | 0.1600 | 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 | a0001c0001t0002g0086a0001c0001t0002g0124a0001c0001t0006g0105 | 3 | 138 | 0.0217 | 37 | c.160 others(54): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |