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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLXND1_chr3_129550214_129611676 | 129609757 | GCAATAAC others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0137 | 1 | 416 | 0.0024 | -21 | c.-31 others(32): Show |
PLXND1 | ENSG00000004399.13 | transcript | ENST00000324093.9 | protein_coding | 3082 | chr3 | TogoVar | |||||||
PMS1_chr2_189779450_189882629 | 189864686 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01261.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0002g0079 others(2): Show |
5 | 234 | 0.0214 | -21 | c.234 others(38): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159800049 | AGAAATTG others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02738.hp1 | a0004 | a0004c0016 | a0004c0016t0001 | a0004c0016t0001g0134 | 1 | 400 | 0.0025 | -21 | c.-25 others(30): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 226 | chr6 | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152989548 | CCTCCTCC others(14): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0042 | 1 | 286 | 0.0035 | -21 | c.*68 others(30): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4/4 | 683 | chrX | TogoVar | ||||||
PNN_chr14_39170254_39188220 | 39184437 | TTTTTTTT others(14): Show |
T | downstream_gene_variant | MODIFIER | NA19072.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0088 | 1 | 444 | 0.0023 | -21 | c.*25 others(32): Show |
PNN | ENSG00000100941.9 | transcript | ENST00000216832.9 | protein_coding | 1218 | chr14 | TogoVar | |||||||
PNPLA6_chr19_7530717_7566764 | 7563453 | CTATTATT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(66): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 others(61): Show |
69 | 416 | 0.1659 | -21 | c.*18 others(32): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 1690 | chr19 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137492768 | AGGGCAGG others(14): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0112 | 1 | 188 | 0.0053 | -21 | c.219 others(38): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 20/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137519649 | AGACCTGG others(14): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG02155.hp1 others(9): Show |
a0003a0013a0014others(3): Show | a0003c0011a0003c0021a0003c0025others(5): Show | a0003c0011t0001a0003c0021t0001a0003c0025t0001others(5): Show | a0003c0011t0001g0014 a0003c0011t0001g0087 a0003c0011t0001g0159 others(9): Show |
12 | 188 | 0.0638 | -21 | c.108 others(38): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505332 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02074.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0181 a0001c0001t0003g0110 |
2 | 390 | 0.0051 | -21 | c.120 others(40): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505336 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02735.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0144 a0001c0001t0004g0145 |
2 | 390 | 0.0051 | -21 | c.120 others(40): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505344 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02129.hp2 HG03654.hp2 HG03669.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0005 a0001c0001t0002g0048 a0001c0001t0002g0049 others(6): Show |
10 | 390 | 0.0256 | -21 | c.120 others(40): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55657856 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02145.hp2 HG03486.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0018a0003c0003t0032 | a0003c0003t0004g0068 a0003c0003t0004g0073 a0003c0003t0004g0090 others(7): Show |
10 | 390 | 0.0256 | -21 | c.128 others(40): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 15/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55691866 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01071.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0023a0002c0002t0039 | a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0261 others(11): Show |
14 | 390 | 0.0359 | -21 | c.161 others(38): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55691868 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02735.hp1 HG03540.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0363 |
3 | 390 | 0.0077 | -21 | c.161 others(38): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
PODXL2_chr3_127624185_127677802 | 127649986 | CTGTTTTA others(14): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 402 | 0.0025 | -21 | c.350 others(40): Show |
PODXL2 | ENSG00000114631.11 | transcript | ENST00000342480.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PODXL2_chr3_127624185_127677802 | 127652036 | GTCAGCTT others(14): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 402 | 0.0025 | -21 | c.350 others(38): Show |
PODXL2 | ENSG00000114631.11 | transcript | ENST00000342480.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131533492 | TTCCCTGG others(14): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0012 | a0001c0012t0027 | a0001c0012t0027g0023 | 1 | 440 | 0.0023 | -21 | c.101 others(40): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119495225 | CAAAAAAA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG03209.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0002 a0001c0001t0029g0059 |
3 | 422 | 0.0071 | -21 | c.*27 others(32): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 518 | chr3 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24806053 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02135.hp1 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0022 a0001c0001t0001g0082 a0001c0001t0006g0197 |
3 | 197 | 0.0152 | -21 | c.296 others(40): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLD1_chr19_50379347_50423014 | 50396418 | CATTGTAT others(14): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0007 a0001c0009t0001g0008 a0001c0009t0001g0009 others(3): Show |
6 | 336 | 0.0179 | -21 | c.-1- others(36): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
POLD2_chr7_44109680_44128548 | 44112970 | TCTGTATC others(14): Show |
T | downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 418 | 0.0024 | -21 | c.*17 others(32): Show |
POLD2 | ENSG00000106628.13 | transcript | ENST00000610533.6 | protein_coding | 1709 | chr7 | TogoVar | |||||||
POLDIP3_chr22_42578721_42619883 | 42603388 | AGTTTTAT others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(36): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0001c0003t0011a0001c0003t0025others(2): Show | a0001c0003t0004g0114 a0001c0003t0004g0218 a0001c0003t0011g0211 others(27): Show |
39 | 360 | 0.1083 | -21 | c.60- others(34): Show |
POLDIP3 | ENSG00000100227.19 | transcript | ENST00000252115.10 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
POLK_chr5_75506891_75614991 | 75529384 | GACCTACC others(14): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(79): Show |
a0001a0005a0008 | a0001c0002a0001c0003a0005c0010others(1): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0015others(31): Show | a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 others(79): Show |
82 | 356 | 0.2303 | -21 | c.-14 others(40): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
POLN_chr4_2066918_2247121 | 2211250 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0004 | 1 | 194 | 0.0052 | -21 | c.213 others(38): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 4/25 | chr4 | TogoVar | |||||||
POLR1G_chr19_45401644_45415737 | 45411446 | GCCACCAT others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(274): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0006others(9): Show | a0001c0001t0013a0001c0001t0037a0001c0001t0046others(98): Show | a0001c0001t0013g0001 a0001c0001t0037g0001 a0001c0001t0046g0004 others(115): Show |
277 | 406 | 0.6823 | -21 | c.*19 others(32): Show |
POLR1G | ENSG00000117877.11 | transcript | ENST00000309424.8 | protein_coding | 710 | chr19 | TogoVar | |||||||
POLR2E_chr19_1081574_1100375 | 1081792 | TGATGGGC others(14): Show |
T | downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0091 | 1 | 442 | 0.0023 | -21 | c.*69 others(32): Show |
POLR2E | ENSG00000099817.12 | transcript | ENST00000615234.5 | protein_coding | 4781 | chr19 | TogoVar | |||||||
POLR2M_chr15_57701714_57722557 | 57713820 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02451.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031 | a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0049 others(3): Show |
11 | 404 | 0.0272 | -21 | c.964 others(36): Show |
POLR2M | ENSG00000255529.9 | transcript | ENST00000299638.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
POLR3G_chr5_90469864_90519557 | 90477697 | ACTGGTGG others(14): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0240 | 1 | 366 | 0.0027 | -21 | c.-44 others(38): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
POLR3G_chr5_90469864_90519557 | 90493676 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02965.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014 | a0001c0001t0012g0148 a0001c0001t0014g0011 |
3 | 366 | 0.0082 | -21 | c.248 others(38): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
POLR3K_chr16_41407_58608 | 52446 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG02818.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 a0001c0001t0004g0059 |
3 | 432 | 0.0069 | -21 | c.112 others(36): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
POLR3K_chr16_41407_58608 | 52775 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(230): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(83): Show |
233 | 432 | 0.5394 | -21 | c.111 others(36): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
POLR3K_chr16_41407_58608 | 52778 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02293.hp1 NA18994.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0216 a0001c0002t0002g0217 |
2 | 432 | 0.0046 | -21 | c.111 others(36): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 613506 | GCGCCTGG others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01070.hp1 others(18): Show |
a0001a0002a0014 | a0001c0001a0001c0027a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0027t0001others(6): Show | a0001c0001t0001g0042 a0001c0001t0011g0350 a0001c0027t0001g0037 others(17): Show |
21 | 422 | 0.0498 | -21 | c.*37 others(32): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3714 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 620999 | CGCCGGGG others(14): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01109.hp1 others(70): Show |
a0001a0002a0003others(8): Show | a0001c0005a0002c0003a0002c0006others(18): Show | a0001c0005t0005a0002c0003t0003a0002c0006t0003others(25): Show | a0001c0005t0005g0116 a0002c0003t0003g0316 a0002c0006t0003g0296 others(69): Show |
73 | 422 | 0.1730 | -21 | c.264 others(36): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 10/20 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 633546 | GCGCCTGC others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01081.hp1 others(11): Show |
a0001a0004a0032others(1): Show | a0001c0001a0004c0004a0032c0056others(1): Show | a0001c0001t0001a0004c0004t0001a0032c0056t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0096 others(7): Show |
14 | 422 | 0.0332 | -21 | c.-55 others(28): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 10 | chr19 | TogoVar | |||||||
POM121C_chr7_75411786_75491299 | 75419593 | AGACAACC others(14): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG03453.hp2 |
a0003 | a0003c0031 | a0003c0031t0020 | a0003c0031t0020g0163 a0003c0031t0020g0165 |
2 | 308 | 0.0065 | -21 | c.274 others(38): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 13/14 | chr7 | TogoVar | |||||||
POT1_chr7_124817386_124934825 | 124909020 | CCAAATCT others(14): Show |
C | intron_variant | MODIFIER | HG02074.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 a0001c0001t0001g0250 |
2 | 346 | 0.0058 | -21 | c.-15 others(40): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 3/18 | chr7 | TogoVar | |||||||
POTEB3_chr15_21400401_21445499 | 21404904 | CTCTTTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01081.hp1 others(11): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0005a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0005t0001others(7): Show | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0033 others(11): Show |
14 | 54 | 0.2593 | -21 | c.*40 others(32): Show |
POTEB3 | ENSG00000278522.5 | transcript | ENST00000611217.5 | protein_coding | 496 | chr15 | TogoVar | |||||||
POTEC_chr18_14502339_14548600 | 14537192 | CACACACA others(14): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG02129.hp1 HG03041.hp2 others(4): Show |
a0006a0022 | a0006c0009a0022c0020 | a0006c0009t0010a0006c0009t0055a0006c0009t0056others(1): Show | a0006c0009t0010g0184 a0006c0009t0010g0185 a0006c0009t0010g0186 others(4): Show |
7 | 388 | 0.0180 | -21 | c.810 others(36): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
POTEG_chr14_19397486_19439341 | 19434479 | GCCCACAC others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01192.hp2 others(20): Show |
a0004a0005a0007others(3): Show | a0004c0005a0004c0038a0005c0004others(7): Show | a0004c0005t0005a0004c0038t0005a0005c0004t0005others(9): Show | a0004c0005t0005g0019 a0004c0005t0005g0020 a0004c0005t0005g0021 others(20): Show |
23 | 111 | 0.2072 | -21 | c.-21 others(30): Show |
POTEG | ENSG00000187537.13 | transcript | ENST00000547848.5 | protein_coding | 139 | chr14 | TogoVar | |||||||
POTEM_chr14_18962434_19008752 | 18967269 | CGTGGGGT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01243.hp2 HG03453.hp1 others(3): Show |
a0009a0011a0013others(2): Show | a0009c0010a0011c0016a0013c0015others(2): Show | a0009c0010t0014a0009c0010t0015a0011c0016t0008others(3): Show | a0009c0010t0014g0002 a0009c0010t0015g0004 a0011c0016t0008g0005 others(3): Show |
6 | 67 | 0.0896 | -21 | c.-21 others(30): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 164 | chr14 | TogoVar | |||||||
POU2AF2_chr11_111240725_111291401 | 111268481 | TATTTTAT others(14): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG02523.hp2 NA18953.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0176 a0001c0001t0002g0276 a0001c0001t0002g0280 others(6): Show |
9 | 380 | 0.0237 | -21 | c.120 others(40): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
POU2F1_chr1_167215886_167432340 | 167343632 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG01175.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0133 a0001c0001t0001g0147 a0001c0001t0001g0168 others(21): Show |
24 | 292 | 0.0822 | -21 | c.127 others(40): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120288810 | CGCACATG others(14): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03139.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0005g0067 |
3 | 320 | 0.0094 | -21 | c.133 others(38): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120288812 | CACATGTA others(14): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 320 | 0.0031 | -21 | c.133 others(38): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU6F1_chr12_51181936_51223062 | 51217463 | CCCCGCCG others(14): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0338 | 1 | 440 | 0.0023 | -21 | c.-48 others(36): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39015517 | AATATATC others(14): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0143 a0002c0003t0001g0145 |
2 | 170 | 0.0118 | -21 | c.105 others(40): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105393485 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 366 | 0.0027 | -21 | c.869 others(38): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105449216 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02071.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0004g0194 others(6): Show |
9 | 366 | 0.0246 | -21 | c.321 others(36): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46154988 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG01928.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0002g0063 a0001c0001t0004g0060 a0001c0001t0006g0029 others(8): Show |
11 | 200 | 0.0550 | -21 | c.-12 others(40): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |