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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P2RX5_chr17_3668227_3701155 | 3699877 | GGAAGGAA others(37): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02738.hp2 HG04115.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0112 a0001c0001t0001g0130 others(5): Show |
8 | 362 | 0.0221 | -44 | c.-39 others(55): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3723 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3699881 | GGAAGGAA others(37): Show |
G | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0184 | 1 | 362 | 0.0028 | -44 | c.-39 others(55): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3727 | chr17 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121161125 | CTCTGTCC others(37): Show |
C | intron_variant | MODIFIER | NA18997.hp2 | a0010 | a0010c0010 | a0010c0010t0006 | a0010c0010t0006g0263 | 1 | 366 | 0.0027 | -44 | c.436 others(59): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965789 | TCTTTCTT others(37): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0071 | 1 | 322 | 0.0031 | -44 | c.*42 others(55): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2063 | chrX | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163269923 | AAAGAAAA others(37): Show |
A | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 130 | 0.0077 | -44 | c.614 others(63): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172374 | ATATATAT others(37): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02602.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0039a0001c0001t0060 | a0001c0001t0005g0009 a0001c0001t0039g0004 a0001c0001t0060g0009 |
3 | 432 | 0.0069 | -44 | c.*46 others(55): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1330 | chr11 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102868132 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG03654.hp2 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 a0001c0002t0001g0079 a0001c0002t0001g0095 |
3 | 312 | 0.0096 | -44 | c.442 others(61): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAK4_chr19_39120786_39184404 | 39147062 | TCAATTGA others(37): Show |
T | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 368 | 0.0027 | -44 | c.-96 others(63): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168526491 | ATTGCAAA others(37): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0053 | 1 | 156 | 0.0064 | -44 | c.908 others(63): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM_chr19_703935_753329 | 727986 | GCGTCGAG others(37): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(132): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(23): Show | a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0045 others(123): Show |
135 | 404 | 0.3342 | -44 | c.269 others(59): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 727997 | CTGGGTCC others(37): Show |
C | intron_variant | MODIFIER | HG03209.hp1 HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0009 a0001c0003t0001g0381 |
3 | 404 | 0.0074 | -44 | c.269 others(59): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24607568 | CATATATG others(37): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0135 | a0001c0001t0135g0005 | 1 | 378 | 0.0027 | -44 | c.-2- others(61): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102780753 | CTCTTTCT others(37): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0002 | 1 | 188 | 0.0053 | -44 | c.-37 others(65): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102803142 | AAAGAAAG others(37): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 188 | 0.0053 | -44 | c.-37 others(65): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102803165 | GGAAGGAA others(37): Show |
G | intron_variant | MODIFIER | NA19004.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0086 a0001c0001t0009g0117 |
2 | 188 | 0.0106 | -44 | c.-37 others(65): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102871002 | CTTTGGTG others(37): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 188 | 0.0053 | -44 | c.210 others(61): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300841 | TTTTCTTT others(37): Show |
T | intron_variant | MODIFIER | HG02523.hp2 HG04184.hp1 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0016 | a0001c0001t0001g0059 a0001c0001t0001g0105 a0001c0001t0008g0095 others(1): Show |
4 | 284 | 0.0141 | -44 | c.-27 others(63): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300937 | CTCTTTCT others(37): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0002c0002t0002 | a0001c0001t0021g0246 a0002c0002t0002g0247 |
2 | 284 | 0.0070 | -44 | c.-27 others(63): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69355300 | CTTTCTTT others(37): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0002g0123 others(3): Show |
6 | 284 | 0.0211 | -44 | c.-11 others(63): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69382777 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0012 a0001c0001t0001g0179 a0001c0001t0001g0261 others(3): Show |
6 | 284 | 0.0211 | -44 | c.180 others(61): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARL_chr3_183824271_183889880 | 183882218 | AAAAAATA others(37): Show |
A | intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 358 | 0.0028 | -44 | c.125 others(61): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882220 | AAAATATA others(37): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02071.hp2 HG02723.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0049 others(4): Show |
7 | 358 | 0.0196 | -44 | c.125 others(61): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882225 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(60): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0011 others(56): Show |
63 | 358 | 0.1760 | -44 | c.125 others(61): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARP9_chr3_122522924_122569300 | 122539507 | ATTTCTTT others(37): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0382 | 1 | 436 | 0.0023 | -44 | c.176 others(61): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151653868 | CTCTTTCT others(37): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02622.hp2 others(5): Show |
a0001a0004 | a0001c0002a0004c0013 | a0001c0002t0002a0001c0002t0005a0004c0013t0002 | a0001c0002t0002g0166 a0001c0002t0002g0173 a0001c0002t0002g0178 others(5): Show |
8 | 221 | 0.0362 | -44 | c.717 others(61): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61796658 | TTTTCTTT others(37): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01257.hp1 HG02602.hp2 |
a0005a0006a0016 | a0005c0122a0006c0069a0016c0121 | a0005c0122t0002a0006c0069t0003a0016c0121t0002 | a0005c0122t0002g0064 a0006c0069t0003g0077 a0016c0121t0002g0068 |
3 | 158 | 0.0190 | -44 | c.126 others(61): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 10/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61925199 | CAAAAAAA others(37): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 |
a0011a0031 | a0011c0007a0031c0131 | a0011c0007t0002a0031c0131t0004 | a0011c0007t0002g0036 a0031c0131t0004g0086 |
2 | 158 | 0.0127 | -44 | c.357 others(63): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 26/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59672322 | ATATATAT others(37): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 276 | 0.0036 | -44 | c.-34 others(55): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3286 | chr11 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79632288 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02258.hp1 HG02451.hp2 others(2): Show |
a0002a0003a0004 | a0002c0002a0003c0004a0004c0006 | a0002c0002t0005a0003c0004t0022a0004c0006t0011 | a0002c0002t0005g0182 a0003c0004t0022g0166 a0004c0006t0011g0239 others(2): Show |
5 | 256 | 0.0195 | -44 | c.517 others(63): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX8_chr2_113210997_113283921 | 113236362 | CGGAGGCG others(37): Show |
C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0248 a0001c0001t0004g0249 |
2 | 300 | 0.0067 | -44 | c.898 others(59): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771859 | TGAGAGAG others(37): Show |
T | upstream_gene_variant | MODIFIER | HG01975.hp1 NA18986.hp1 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0209 |
3 | 360 | 0.0083 | -44 | c.-23 others(53): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 105 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771905 | AGAGAGAG others(37): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03239.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0023 others(1): Show |
5 | 360 | 0.0139 | -44 | c.-28 others(53): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 151 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45746628 | TGGTGTCA others(37): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0111 | 1 | 292 | 0.0034 | -44 | c.-16 others(63): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45859286 | GGTCAGCC others(37): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(265): Show |
268 | 292 | 0.9178 | -44 | c.10+ others(59): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45898863 | GCCCCTCT others(37): Show |
G | intron_variant | MODIFIER | NA18959.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 a0001c0001t0002g0240 |
2 | 292 | 0.0069 | -44 | c.166 others(59): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100298640 | CTCCCTCC others(37): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 174 | 0.0058 | -44 | c.106 others(63): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100298660 | CTCCCTCC others(37): Show |
C | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | 174 | 0.0115 | -44 | c.106 others(63): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100333158 | GAAGGAAG others(37): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 281 | 0.0036 | -44 | c.284 others(63): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH9_chr13_66297834_67235336 | 67115691 | GTTTTACC others(37): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 | 1 | 80 | 0.0125 | -44 | c.303 others(67): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 733059 | GCGTGCTG others(37): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG03471.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0017a0001c0001t0023a0001c0005t0017others(2): Show | a0001c0001t0017g0298 a0001c0001t0023g0285 a0001c0001t0023g0293 others(3): Show |
6 | 366 | 0.0164 | -44 | c.-9- others(57): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999601 | TATTATAT others(37): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG04199.hp1 |
a0006 | a0006c0027 | a0006c0027t0001 | a0006c0027t0001g0046 a0006c0027t0001g0048 |
2 | 188 | 0.0106 | -44 | c.330 others(65): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCSK1_chr5_96385333_96438248 | 96425008 | AAAAGAAA others(37): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0013 | a0001c0002t0010g0309 a0001c0002t0010g0310 a0001c0002t0010g0311 others(2): Show |
5 | 392 | 0.0128 | -44 | c.396 others(59): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 3/13 | chr5 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177631496 | AAAAAAAA others(37): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0050 | 1 | 170 | 0.0059 | -44 | c.264 others(63): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177660061 | TTCTTTCT others(37): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0026a0001c0005t0026 | a0001c0001t0026g0067 a0001c0005t0026g0019 |
2 | 170 | 0.0118 | -44 | c.264 others(63): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511284 | GCTGGGGG others(37): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(25): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0075 others(44): Show |
49 | 302 | 0.1623 | -44 | c.266 others(59): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511307 | TTAGTCCA others(37): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01099.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(16): Show | a0001c0001t0004g0073 a0001c0001t0005g0281 a0001c0001t0013g0015 others(19): Show |
22 | 302 | 0.0729 | -44 | c.266 others(59): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 512266 | CACCCGGC others(37): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0206 | 1 | 302 | 0.0033 | -44 | c.265 others(57): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247873 | AAAAAAAA others(37): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0003 a0001c0001t0004g0093 |
2 | 386 | 0.0052 | -44 | c.-39 others(55): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2892 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247875 | AAAAAAAA others(37): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01516.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004 | a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0003t0004g0094 |
3 | 386 | 0.0078 | -44 | c.-39 others(55): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2894 | chr22 | TogoVar | |||||||
PDHX_chr11_34911618_35001128 | 34964773 | ATATTAGC others(37): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0014 | a0001c0002t0007g0187 a0001c0002t0007g0188 a0001c0002t0007g0189 others(3): Show |
6 | 314 | 0.0191 | -44 | c.642 others(61): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |