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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALLD_chr4_168492052_168933441 | 168709604 | GAGGGAGG others(30): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01884.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0077 others(27): Show |
30 | 141 | 0.2128 | -37 | c.162 others(54): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683086 | GAGAGAAA others(30): Show |
G | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 372 | 0.0027 | -37 | c.252 others(54): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116289149 | TATATATA others(30): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01978.hp2 HG02273.hp1 |
a0002 | a0002c0003a0002c0004a0002c0044 | a0002c0003t0001a0002c0004t0034a0002c0044t0001 | a0002c0003t0001g0070 a0002c0004t0034g0214 a0002c0044t0001g0065 |
3 | 232 | 0.0129 | -37 | c.295 others(58): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300630 | TTTCTTTC others(30): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG00738.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0077 others(11): Show |
14 | 281 | 0.0498 | -37 | c.-27 others(56): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD6G_chr18_80152232_80252514 | 80192506 | CGGGGGAG others(30): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 a0001c0001t0003g0044 a0001c0001t0003g0045 others(2): Show |
5 | 376 | 0.0133 | -37 | c.295 others(56): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143978943 | CTTCAGAG others(30): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0210 | 1 | 378 | 0.0026 | -37 | c.255 others(54): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44113793 | CTAAGGCC others(30): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0198 a0001c0001t0003g0227 |
2 | 321 | 0.0062 | -37 | c.274 others(54): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44114077 | GTAAGGCC others(30): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG02165.hp1 |
a0001a0007 | a0001c0001a0007c0021 | a0001c0001t0001a0007c0021t0010 | a0001c0001t0001g0007 a0007c0021t0010g0301 |
2 | 327 | 0.0061 | -37 | c.274 others(54): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44114438 | GTAAGGCC others(30): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0027 | a0001c0027t0039 | a0001c0027t0039g0319 | 1 | 329 | 0.0030 | -37 | c.274 others(54): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44114966 | GTTGTTAC others(30): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03486.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0040a0001c0002t0017 | a0001c0001t0008g0086 a0001c0001t0008g0193 a0001c0001t0040g0186 others(1): Show |
4 | 240 | 0.0167 | -37 | c.274 others(54): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44115306 | CTAAGGCC others(30): Show |
C | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 330 | 0.0030 | -37 | c.274 others(54): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44115471 | CACAGATA others(30): Show |
C | intron_variant | MODIFIER | HG02630.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0001 | a0001c0001t0008g0149 a0001c0002t0001g0118 |
2 | 328 | 0.0061 | -37 | c.274 others(54): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44115858 | TACTAAAG others(30): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(112): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(112): Show |
115 | 330 | 0.3485 | -37 | c.274 others(54): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241105719 | AGGGCTGG others(30): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp1 HG01358.hp1 HG01433.hp2 others(43): Show |
a0001a0002a0012others(3): Show | a0001c0012a0001c0023a0001c0025others(11): Show | a0001c0012t0001a0001c0023t0001a0001c0025t0002others(12): Show | a0001c0012t0001g0113 a0001c0012t0001g0114 a0001c0012t0001g0115 others(40): Show |
46 | 374 | 0.1230 | -37 | c.*81 others(46): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 379 | chr2 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 61796706 | CTTTCTTT others(30): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0027 | a0027c0073 | a0027c0073t0001 | a0027c0073t0001g0035 | 1 | 155 | 0.0065 | -37 | c.126 others(54): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 10/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613951 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 238 | 0.0042 | -37 | c.649 others(52): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613955 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0177 a0002c0002t0001g0228 |
2 | 233 | 0.0086 | -37 | c.649 others(52): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613957 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0005g0181 |
3 | 234 | 0.0128 | -37 | c.649 others(52): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613959 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG01975.hp2 HG02257.hp1 HG03225.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0017 | a0002c0002t0001g0180 a0002c0002t0001g0207 a0002c0002t0017g0183 |
3 | 241 | 0.0124 | -37 | c.649 others(52): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21718949 | GTTGAGAT others(30): Show |
G | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | -37 | c.*43 others(48): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 469 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721415 | ATTATATA others(30): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02486.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0009a0001c0001t0017a0001c0001t0048others(1): Show | a0001c0001t0009g0013 a0001c0001t0009g0085 a0001c0001t0009g0086 others(6): Show |
12 | 398 | 0.0302 | -37 | c.*68 others(48): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 2935 | chr20 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52672270 | ACCCTTGT others(30): Show |
A | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 298 | 0.0034 | -37 | c.237 others(54): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 3/31 | chr3 | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 91894820 | GTCTGGCA others(30): Show |
G | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0068 | 1 | 154 | 0.0065 | -37 | c.303 others(58): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | chrX | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54375780 | TTTGAAAT others(30): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01167.hp1 |
a0001a0014 | a0001c0001a0014c0033 | a0001c0001t0014a0014c0033t0017 | a0001c0001t0014g0070 a0014c0033t0017g0030 |
2 | 99 | 0.0202 | -37 | c.318 others(54): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 4/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54375780 | TTTGAAAT others(30): Show |
T | intron_variant | MODIFIER | HG01069.hp2 | a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0064 | 1 | 91 | 0.0110 | -37 | c.318 others(54): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 4/32 | chr10 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31056421 | AAGGAAAG others(30): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0032a0001c0001t0042others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0120 a0001c0001t0032g0067 others(4): Show |
7 | 214 | 0.0327 | -37 | c.339 others(58): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31056486 | AAAGAAAG others(30): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02040.hp1 NA18968.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0086 a0001c0001t0003g0066 a0001c0001t0005g0025 others(4): Show |
7 | 214 | 0.0327 | -37 | c.339 others(58): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
PCED1B_chr12_47074621_47241660 | 47186587 | AATAATCC others(30): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0251 | 1 | 320 | 0.0031 | -37 | c.-52 others(58): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCP4L1_chr1_161253745_161290450 | 161281759 | CGGGCAGA others(30): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(142): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(115): Show |
145 | 178 | 0.8146 | -37 | c.10- others(52): Show |
PCP4L1 | ENSG00000248485.2 | transcript | ENST00000504449.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17347855 | AGAAAGAG others(30): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(1): Show | a0001c0001t0003g0003 a0001c0001t0009g0004 a0001c0001t0011g0022 others(1): Show |
4 | 264 | 0.0152 | -37 | c.283 others(56): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | chr20 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59031362 | GATATATA others(30): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(6): Show |
9 | 53 | 0.1698 | -37 | c.921 others(54): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 6/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59172013 | ATTATATA others(30): Show |
A | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 74 | 0.0135 | -37 | c.808 others(54): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 668877 | GCTACCCC others(30): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 NA19240.hp1 |
a0001a0005 | a0001c0005a0005c0011 | a0001c0005t0001a0005c0011t0001 | a0001c0005t0001g0204 a0005c0011t0001g0251 a0005c0011t0001g0252 |
3 | 306 | 0.0098 | -37 | c.250 others(54): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 668886 | TGCTATTC others(30): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00741.hp1 others(52): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0018 others(48): Show |
55 | 302 | 0.1821 | -37 | c.250 others(55): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 504709 | CCCGGCCC others(30): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0010 | 1 | 300 | 0.0033 | -37 | c.454 others(54): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 281284 | GGAGGGCC others(30): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02572.hp1 others(14): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0005a0001c0012others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0012t0001others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0099 a0001c0005t0001g0024 others(5): Show |
17 | 411 | 0.0414 | -37 | c.-18 others(48): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 1879 | chr16 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 281308 | CTTGGGGG others(30): Show |
C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01109.hp1 others(14): Show |
a0001a0003a0004others(2): Show | a0001c0005a0003c0027a0004c0004others(2): Show | a0001c0005t0001a0003c0027t0001a0004c0004t0001others(2): Show | a0001c0005t0001g0030 a0003c0027t0001g0117 a0004c0004t0001g0013 others(6): Show |
17 | 434 | 0.0392 | -37 | c.-18 others(48): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 1855 | chr16 | TogoVar | |||||||
PDP2_chr16_66875515_66896101 | 66894315 | GAAAATAA others(30): Show |
G | downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0034 | 1 | 354 | 0.0028 | -37 | c.*84 others(48): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 3215 | chr16 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32586262 | TGCGCGCG others(30): Show |
T | upstream_gene_variant | MODIFIER | NA18956.hp2 NA18971.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002a0001c0002t0006 | a0001c0001t0004g0203 a0001c0002t0002g0256 a0001c0002t0006g0257 |
3 | 332 | 0.0090 | -37 | c.-35 others(46): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 189 | chr13 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 32039698 | CGCCTCTG others(30): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01358.hp1 HG02080.hp1 others(11): Show |
a0001a0002a0003others(6): Show | a0001c0010a0001c0034a0001c0053others(10): Show | a0001c0010t0015a0001c0034t0019a0001c0053t0001others(11): Show | a0001c0010t0015g0196 a0001c0034t0019g0212 a0001c0053t0001g0215 others(11): Show |
14 | 214 | 0.0654 | -37 | c.151 others(56): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(30): Show |
C | intron_variant | MODIFIER | NA18974.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 a0001c0001t0001g0235 |
2 | 213 | 0.0094 | -37 | c.872 others(56): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41540866 | TGTTGTTG others(30): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01884.hp2 HG02257.hp1 others(13): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0013a0002c0002others(7): Show | a0001c0001t0001a0001c0013t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0151 others(13): Show |
16 | 206 | 0.0777 | -37 | c.120 others(58): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PELI3_chr11_66461905_66482337 | 66462613 | CCAGCCTG others(30): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 394 | 0.0025 | -37 | c.-44 others(48): Show |
PELI3 | ENSG00000174516.15 | transcript | ENST00000320740.12 | protein_coding | 4291 | chr11 | TogoVar | |||||||
PEMT_chr17_17500563_17596708 | 17576085 | CCCCAGGA others(30): Show |
C | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 346 | 0.0029 | -37 | c.204 others(52): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33507646 | AGTCTGGT others(30): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 312 | 0.0032 | -37 | c.329 others(54): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2412933 | AGACGCTG others(30): Show |
A | upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 356 | 0.0028 | -37 | c.-46 others(46): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 370 | chr1 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10577544 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 255 | 0.0039 | -37 | c.170 others(56): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577550 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01168.hp1 HG01255.hp2 others(3): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0181 others(3): Show |
6 | 231 | 0.0260 | -37 | c.170 others(56): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855071 | ATATATAT others(30): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 446 | 0.0045 | -37 | c.*95 others(46): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 589 | chr4 | TogoVar | |||||||
PF4V1_chr4_73848296_73859483 | 73855075 | ATATATAT others(30): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 310 | 0.0065 | -37 | c.*95 others(46): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 593 | chr4 | TogoVar |