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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POU6F2_chr7_38972909_39473601 | 39015892 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0151 | 1 | 170 | 0.0059 | 17 | c.105 others(36): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39015908 | T | TTATATAT others(10): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0165a0001c0001t0002g0015a0001c0001t0002g0018others(56): Show | 59 | 170 | 0.3471 | 17 | c.105 others(36): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39053350 | A | AGAAAGAG others(10): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 170 | 0.0059 | 17 | c.106 others(36): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39246905 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 170 | 0.0059 | 17 | c.598 others(36): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPA1_chr10_70197835_70238429 | 70221055 | A | ATTTTTAT others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 408 | 0.0025 | 17 | c.124 others(34): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70221076 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 408 | 0.0025 | 17 | c.124 others(34): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70221076 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 408 | 0.0025 | 17 | c.124 others(34): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70221076 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01981.hp1 NA18960.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0081a0001c0001t0001g0082others(2): Show | 5 | 408 | 0.0123 | 17 | c.124 others(34): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70221076 | A | ATATATTT others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 HG03540.hp1 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0057a0001c0001t0001g0074others(1): Show | 4 | 408 | 0.0098 | 17 | c.124 others(34): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105422592 | T | TGGGCTAT others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(153): Show |
a0002a0006 | a0002c0002a0002c0003a0006c0012 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(2): Show | a0002c0002t0001g0010a0002c0002t0001g0018a0002c0002t0001g0019others(151): Show | 156 | 366 | 0.4262 | 17 | c.655 others(34): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 7/11 | chr4 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105422592 | T | TGGGCTAT others(10): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 366 | 0.0027 | 17 | c.655 others(34): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 7/11 | chr4 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105450601 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 HG06807.hp2 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0185a0001c0001t0005g0186a0002c0002t0002g0015others(1): Show | 4 | 366 | 0.0109 | 17 | c.268 others(34): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46146431 | G | GAAGAGAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(2): Show | a0001c0001t0002g0063a0001c0001t0006g0134a0001c0001t0012g0137others(2): Show | 5 | 200 | 0.0250 | 17 | c.-44 others(28): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4094 | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46146432 | A | AAGAGAAG others(10): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0043 | 1 | 200 | 0.0050 | 17 | c.-44 others(28): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4093 | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46185912 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0047 | 1 | 200 | 0.0050 | 17 | c.-43 others(34): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46185916 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 1 | 200 | 0.0050 | 17 | c.-43 others(34): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46205554 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 200 | 0.0050 | 17 | c.208 others(34): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46205554 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0031 | a0001c0001t0008g0199a0001c0001t0031g0198 | 2 | 200 | 0.0100 | 17 | c.208 others(34): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46205555 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0040 | a0001c0001t0007g0135a0001c0001t0040g0074 | 2 | 200 | 0.0100 | 17 | c.208 others(34): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
PPARGC1A_chr4_23787021_23895047 | 23844681 | T | TATCATAT others(10): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03195.hp2 HG03471.hp1 others(5): Show |
a0003a0004 | a0003c0004a0004c0007 | a0003c0004t0041a0004c0007t0014a0004c0007t0022others(1): Show | a0003c0004t0041g0172a0004c0007t0014g0053a0004c0007t0014g0208others(5): Show | 8 | 342 | 0.0234 | 17 | c.235 others(36): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149750365 | T | TTCCACAG others(10): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 320 | 0.0031 | 17 | c.78+ others(34): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149750453 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0010 | a0001c0010t0038 | a0001c0010t0038g0185 | 1 | 320 | 0.0031 | 17 | c.78+ others(34): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809253 | A | ATAGATCC others(10): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0007 | a0007c0019 | a0007c0019t0017 | a0007c0019t0017g0314 | 1 | 320 | 0.0031 | 17 | c.79- others(34): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPAT_chr4_56388362_56440615 | 56417835 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03139.hp2 HG03453.hp2 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0091a0001c0005t0008g0092a0001c0005t0008g0093 | 3 | 384 | 0.0078 | 17 | c.129 others(36): Show |
PPAT | ENSG00000128059.8 | transcript | ENST00000264220.6 | protein_coding | 1/10 | chr4 | TogoVar | ||||||
PPEF1_chrX_18702645_18832917 | 18743446 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0019 | 3 | 224 | 0.0134 | 17 | c.236 others(34): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PPEF2_chr4_75854867_75907452 | 75856882 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 270 | 0.0037 | 17 | c.*37 others(28): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 2984 | chr4 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75856882 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 NA18973.hp2 |
a0001a0014 | a0001c0001a0014c0022 | a0001c0001t0001a0014c0022t0001 | a0001c0001t0001g0073a0014c0022t0001g0185 | 2 | 270 | 0.0074 | 17 | c.*37 others(28): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 2984 | chr4 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75856882 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 HG02602.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0168a0001c0001t0001g0202 | 3 | 270 | 0.0111 | 17 | c.*37 others(28): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 2984 | chr4 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81415210 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 168 | 0.0060 | 17 | c.646 others(34): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81642738 | T | TATATATT others(10): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 168 | 0.0060 | 17 | c.303 others(36): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81642769 | T | TATATATT others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00639.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0032a0001c0001t0001g0050a0001c0001t0001g0053others(33): Show | 36 | 168 | 0.2143 | 17 | c.303 others(36): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81642770 | A | ATAATATA others(10): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 168 | 0.0060 | 17 | c.303 others(36): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81644945 | A | AGTGTTAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(153): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0031others(153): Show | 156 | 168 | 0.9286 | 17 | c.303 others(36): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA3_chr19_49114544_49156026 | 49137628 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138a0001c0001t0002g0140 | 2 | 362 | 0.0055 | 17 | c.185 others(34): Show |
PPFIA3 | ENSG00000177380.14 | transcript | ENST00000334186.9 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPFIA4_chr1_203021491_203083736 | 203082595 | A | AGGGAATG others(10): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0237 | 1 | 418 | 0.0024 | 17 | c.*62 others(28): Show |
PPFIA4 | ENSG00000143847.16 | transcript | ENST00000295706.9 | protein_coding | 3860 | chr1 | TogoVar | ||||||
PPFIBP1_chr12_27519206_27700564 | 27644244 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0230 | 1 | 314 | 0.0032 | 17 | c.271 others(34): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPFIBP1_chr12_27519206_27700564 | 27678856 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03041.hp1 HG04184.hp2 |
a0001a0003 | a0001c0001a0003c0014 | a0001c0001t0002a0003c0014t0007 | a0001c0001t0002g0145a0003c0014t0007g0108 | 2 | 314 | 0.0064 | 17 | c.161 others(34): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPFIBP1_chr12_27519206_27700564 | 27678881 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0036 | a0001c0002t0008g0241a0001c0002t0036g0107 | 2 | 314 | 0.0064 | 17 | c.161 others(34): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 19/29 | chr12 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42360458 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098a0001c0001t0002g0212 | 2 | 376 | 0.0053 | 17 | c.299 others(34): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42426228 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 376 | 0.0027 | 17 | c.910 others(36): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPIAL4C_chr1_149578848_149589607 | 149583467 | G | GAAAGAAA others(10): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 448 | 0.0022 | 17 | c.-43 others(26): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 380 | chr1 | TogoVar | ||||||
PPIAL4C_chr1_149578848_149589607 | 149583502 | G | GAAAGAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 448 | 0.0022 | 17 | c.-39 others(26): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 345 | chr1 | TogoVar | ||||||
PPIAL4D_chr1_145236415_145247174 | 145242474 | C | CTTTCTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG03579.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 396 | 0.0126 | 17 | c.-35 others(26): Show |
PPIAL4D | ENSG00000289549.1 | transcript | ENST00000544708.3 | protein_coding | 301 | chr1 | TogoVar | ||||||
PPIAL4G_chr1_148477548_148488302 | 148483613 | T | TTCTTTCT others(10): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 450 | 0.0022 | 17 | c.-36 others(26): Show |
PPIAL4G | ENSG00000236334.3 | transcript | ENST00000419275.3 | protein_coding | 312 | chr1 | TogoVar | ||||||
PPID_chr4_158704127_158728396 | 158709019 | T | TGTGTGTG others(10): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0065 | 1 | 348 | 0.0029 | 17 | c.*71 others(26): Show |
PPID | ENSG00000171497.5 | transcript | ENST00000307720.4 | protein_coding | 107 | chr4 | TogoVar | ||||||
PPID_chr4_158704127_158728396 | 158713777 | G | GAACATCT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(113): Show |
a0001a0002a0003others(2): Show | a0001c0011a0002c0002a0002c0003others(5): Show | a0001c0011t0002a0002c0002t0002a0002c0002t0004others(6): Show | a0001c0011t0002g0054a0002c0002t0002g0002a0002c0002t0002g0004others(37): Show | 116 | 348 | 0.3333 | 17 | c.753 others(32): Show |
PPID | ENSG00000171497.5 | transcript | ENST00000307720.4 | protein_coding | 6/9 | chr4 | TogoVar | ||||||
PPIG_chr2_169579351_169646406 | 169585270 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01496.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0004a0003c0003t0008others(1): Show | a0001c0001t0005g0362a0003c0003t0004g0355a0003c0003t0004g0356others(5): Show | 8 | 382 | 0.0209 | 17 | c.-70 others(32): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPIG_chr2_169579351_169646406 | 169606591 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0036 | 1 | 382 | 0.0026 | 17 | c.244 others(32): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPIP5K1_chr15_43528475_43595208 | 43567118 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 114 | 0.0088 | 17 | c.304 others(36): Show |
PPIP5K1 | ENSG00000168781.24 | transcript | ENST00000420765.6 | protein_coding | 26/31 | chr15 | TogoVar | ||||||
PPL_chr16_4877507_4942148 | 4889241 | G | GGTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0027 | a0027c0041 | a0027c0041t0010 | a0027c0041t0010g0350 | 1 | 372 | 0.0027 | 17 | c.231 others(34): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 18/21 | chr16 | TogoVar |