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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PABPC1_chr8_100697916_100727088 | 100715122 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015a0001c0002t0002g0027 | 5 | 416 | 0.0120 | -8 | c.643 others(23): Show |
PABPC1 | ENSG00000070756.17 | transcript | ENST00000318607.10 | protein_coding | 4/14 | chr8 | TogoVar | ||||||
PABPC1_chr8_100697916_100727088 | 100715152 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03139.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 3 | 416 | 0.0072 | -8 | c.643 others(23): Show |
PABPC1 | ENSG00000070756.17 | transcript | ENST00000318607.10 | protein_coding | 4/14 | chr8 | TogoVar | ||||||
PABPC4_chr1_39555816_39581790 | 39558101 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02922.hp2 NA18979.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0035others(1): Show | 6 | 374 | 0.0160 | -8 | c.*30 others(19): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 2714 | chr1 | TogoVar | ||||||
PABPC4_chr1_39555816_39581790 | 39579357 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01346.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0085a0001c0001t0002g0004 | 3 | 374 | 0.0080 | -8 | c.-34 others(19): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 2568 | chr1 | TogoVar | ||||||
PACC1_chr1_212358928_212419886 | 212396796 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(182): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(165): Show | 185 | 374 | 0.4947 | -8 | c.134 others(25): Show |
PACC1 | ENSG00000065600.13 | transcript | ENST00000261455.9 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
PACRGL_chr4_20695458_20737557 | 20703504 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021a0001c0001t0002g0077 | 4 | 412 | 0.0097 | -8 | c.-16 others(23): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162747363 | TACACATA others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017a0001c0001t0002g0066a0001c0001t0002g0067others(5): Show | 8 | 130 | 0.0615 | -8 | c.156 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162747451 | TAACTATA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0032others(8): Show | 11 | 130 | 0.0846 | -8 | c.156 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162747466 | ATGTAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02559.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0044a0001c0001t0001g0052a0001c0001t0001g0053others(8): Show | 11 | 130 | 0.0846 | -8 | c.156 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162785168 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0020others(11): Show | 14 | 130 | 0.1077 | -8 | c.157 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162947641 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0118a0001c0001t0002g0024 | 2 | 130 | 0.0154 | -8 | c.292 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 162958878 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016 | a0001c0001t0015g0062a0001c0001t0016g0059 | 2 | 130 | 0.0154 | -8 | c.292 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163036857 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01169.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0023others(50): Show | 53 | 130 | 0.4077 | -8 | c.292 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163049866 | GACTTGGC others(1): Show |
G | intron_variant | MODIFIER | NA18989.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0123a0001c0001t0004g0082 | 2 | 130 | 0.0154 | -8 | c.292 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163196924 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01243.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0060a0001c0001t0001g0089others(9): Show | 12 | 130 | 0.0923 | -8 | c.613 others(29): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163269931 | CAAAGAAA others(1): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG01981.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0021a0001c0001t0001g0056a0001c0001t0001g0089others(1): Show | 4 | 130 | 0.0308 | -8 | c.614 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163270020 | GAGGGAGG others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01169.hp2 HG01257.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0048others(14): Show | 17 | 130 | 0.1308 | -8 | c.614 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163280413 | GCACCACC others(1): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03209.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0004a0001c0001t0003g0005a0001c0001t0003g0006others(1): Show | 4 | 130 | 0.0308 | -8 | c.614 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163290276 | GCGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014a0001c0001t0003g0025 | 2 | 130 | 0.0154 | -8 | c.614 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163290278 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024a0001c0001t0002g0086 | 2 | 130 | 0.0154 | -8 | c.614 others(27): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66156204 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01934.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0019a0001c0001t0001g0054a0001c0001t0001g0062others(16): Show | 19 | 322 | 0.0590 | -8 | c.357 others(27): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66202742 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0177a0001c0001t0001g0306a0001c0002t0002g0044others(4): Show | 7 | 322 | 0.0217 | -8 | c.445 others(25): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PACSIN1_chr6_34461076_34540223 | 34462414 | GGTGTGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(59): Show | 64 | 310 | 0.2065 | -8 | c.-39 others(19): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 3661 | chr6 | TogoVar | ||||||
PACSIN1_chr6_34461076_34540223 | 34502031 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01516.hp2 HG01891.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(4): Show | a0001c0001t0001g0178a0001c0001t0002g0170a0001c0001t0016g0078others(10): Show | 13 | 310 | 0.0419 | -8 | c.-63 others(27): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACSIN1_chr6_34461076_34540223 | 34504268 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01884.hp1 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0135a0001c0001t0001g0179a0001c0001t0001g0204others(4): Show | 7 | 310 | 0.0226 | -8 | c.-63 others(27): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACSIN1_chr6_34461076_34540223 | 34504286 | ATATATTT others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01192.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0046a0001c0001t0001g0053others(22): Show | 26 | 310 | 0.0839 | -8 | c.-63 others(27): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACSIN2_chr22_42864773_43020149 | 42886447 | GGTAGGTA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp2 HG01167.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0009a0001c0002t0003g0010a0001c0002t0003g0019others(3): Show | 6 | 294 | 0.0204 | -8 | c.610 others(25): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 5/10 | chr22 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 42987489 | CACACCCA others(1): Show |
C | intron_variant | MODIFIER | HG02165.hp2 HG02572.hp2 NA19030.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0003a0001c0005t0005 | a0001c0002t0003g0082a0001c0005t0005g0282a0001c0005t0005g0286 | 3 | 294 | 0.0102 | -8 | c.-78 others(27): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 43009863 | CTATTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(63): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0007others(6): Show | a0001c0001t0001g0029a0001c0001t0001g0173a0001c0002t0003g0003others(63): Show | 66 | 294 | 0.2245 | -8 | c.-78 others(25): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 43012154 | AATACATA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0002g0254others(9): Show | 12 | 294 | 0.0408 | -8 | c.-78 others(25): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 43012196 | TACATACA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02486.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(1): Show | 4 | 294 | 0.0136 | -8 | c.-78 others(25): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 43019241 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(110): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(11): Show | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044others(110): Show | 113 | 294 | 0.3844 | -8 | c.-43 others(19): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 4093 | chr22 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 43019418 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0003a0001c0005t0005 | a0001c0002t0003g0040a0001c0005t0005g0283a0001c0005t0005g0284others(1): Show | 4 | 294 | 0.0136 | -8 | c.-44 others(19): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 4270 | chr22 | TogoVar | ||||||
PACSIN3_chr11_47172522_47191434 | 47190100 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(82): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(11): Show | 85 | 364 | 0.2335 | -8 | c.-38 others(19): Show |
PACSIN3 | ENSG00000165912.16 | transcript | ENST00000298838.11 | protein_coding | 3667 | chr11 | TogoVar | ||||||
PADI1_chr1_17200128_17251007 | 17227530 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01074.hp2 others(49): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0034a0001c0001t0001g0078a0001c0001t0001g0150others(49): Show | 52 | 406 | 0.1281 | -8 | c.653 others(25): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI2_chr1_17061761_17124451 | 17081793 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0015a0001c0016 | a0001c0001t0016a0001c0015t0003a0001c0016t0002 | a0001c0001t0016g0017a0001c0015t0003g0230a0001c0015t0003g0322others(1): Show | 4 | 356 | 0.0112 | -8 | c.115 others(25): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 10/15 | chr1 | TogoVar | ||||||
PADI3_chr1_17244098_17289233 | 17264331 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00738.hp1 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0008others(5): Show | a0001c0001t0002a0001c0001t0005a0002c0003t0002others(10): Show | a0001c0001t0002g0100a0001c0001t0005g0101a0002c0003t0002g0025others(46): Show | 53 | 368 | 0.1440 | -8 | c.347 others(25): Show |
PADI3 | ENSG00000142619.4 | transcript | ENST00000375460.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI3_chr1_17244098_17289233 | 17268498 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG00741.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0002g0073a0001c0001t0004g0071a0001c0001t0004g0075others(14): Show | 20 | 368 | 0.0544 | -8 | c.652 others(23): Show |
PADI3 | ENSG00000142619.4 | transcript | ENST00000375460.3 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PADI4_chr1_17303197_17369004 | 17340050 | GCGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG02145.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0001a0002c0002t0001a0002c0015t0001 | a0001c0001t0001g0039a0001c0001t0001g0114a0002c0002t0001g0306others(3): Show | 6 | 372 | 0.0161 | -8 | c.652 others(23): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAF1_chr19_39380629_39396106 | 39393073 | TTTCTTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0002a0001c0001t0001g0032a0001c0002t0001g0004others(2): Show | 14 | 368 | 0.0380 | -8 | c.-22 others(19): Show |
PAF1 | ENSG00000006712.15 | transcript | ENST00000221265.8 | protein_coding | 1968 | chr19 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2621605 | GTCTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG01070.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0003g0002a0001c0001t0003g0216a0001c0001t0003g0221others(29): Show | 32 | 280 | 0.1143 | -8 | c.-19 others(29): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAFAH1B1_chr17_2588654_2690615 | 2650639 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00733.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0234a0001c0001t0003g0002a0001c0001t0003g0102others(74): Show | 77 | 280 | 0.2750 | -8 | c.32+ others(25): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAFAH1B1_chr17_2588654_2690615 | 2664686 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG01255.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0192a0001c0001t0004g0229a0001c0001t0004g0230others(14): Show | 17 | 280 | 0.0607 | -8 | c.33- others(21): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAFAH1B1_chr17_2588654_2690615 | 2679614 | ATGGATGA others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01074.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0046a0001c0001t0001g0065others(21): Show | 24 | 280 | 0.0857 | -8 | c.100 others(25): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAFAH1B1_chr17_2588654_2690615 | 2685622 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02155.hp1 HG03195.hp1 HG03239.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0024others(1): Show | a0001c0001t0001g0067a0001c0001t0001g0070a0001c0001t0001g0086others(5): Show | 8 | 280 | 0.0286 | -8 | c.*38 others(19): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 8 | chr17 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117174164 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp1 HG02622.hp1 HG03098.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021a0001c0001t0025others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0197a0001c0001t0021g0053others(6): Show | 9 | 432 | 0.0208 | -8 | c.*64 others(19): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 3120 | chr11 | TogoVar | ||||||
PAFAH1B3_chr19_42292035_42307624 | 42303064 | GGTGTGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG01069.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(3): Show | 23 | 318 | 0.0723 | -8 | c.-76 others(17): Show |
PAFAH1B3 | ENSG00000079462.8 | transcript | ENST00000262890.8 | protein_coding | 441 | chr19 | TogoVar | ||||||
PAFAH2_chr1_25954767_26003063 | 25977014 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(27): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0001a0001c0001t0021a0001c0001t0025others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0167a0001c0001t0001g0172others(22): Show | 30 | 310 | 0.0968 | -8 | c.667 others(23): Show |
PAFAH2 | ENSG00000158006.14 | transcript | ENST00000374282.8 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
PAGE1_chrX_49682447_49700984 | 49689546 | TAAAAAAA others(1): Show |
T | splice_region_variant others(1): Show |
LOW | HG02622.hp2 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048a0002c0002t0001g0049 | 2 | 322 | 0.0062 | -8 | c.293 others(20): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | ||||||
PAGE1_chrX_49682447_49700984 | 49689569 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 322 | 0.0031 | -8 | c.293 others(21): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar |