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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OSBPL6_chr2_178189512_178407893 | 178189945 | T | TAATTTTT others(35): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 NA18940.hp1 NA18972.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0008 | a0001c0001t0018a0001c0001t0059a0001c0001t0065others(4): Show | a0001c0001t0018g0135 a0001c0001t0059g0087 a0001c0001t0065g0085 others(4): Show |
7 | 198 | 0.0354 | 42 | c.-50 others(53): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 4566 | chr2 | TogoVar | |||||||
OSCAR_chr19_54089668_54105803 | 54089940 | G | GTTTTTTT others(35): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG02145.hp1 HG02615.hp2 others(5): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0010 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0034 others(5): Show |
8 | 19 | 0.4211 | 42 | c.*52 others(53): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 4727 | chr19 | TogoVar | |||||||
OSGEPL1_chr2_189741660_189767792 | 189745018 | C | CTACTACT others(35): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG02055.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0080 |
4 | 354 | 0.0113 | 42 | c.*21 others(53): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 1641 | chr2 | TogoVar | |||||||
OSGEPL1_chr2_189741660_189767792 | 189745027 | C | CTACTACT others(35): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 43 | 0.0233 | 42 | c.*21 others(53): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 1632 | chr2 | TogoVar | |||||||
OTOA_chr16_21658968_21765729 | 21695866 | G | GATATATA others(35): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 276 | 0.0036 | 42 | c.740 others(59): Show |
OTOA | ENSG00000155719.18 | transcript | ENST00000646100.2 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OTOP1_chr4_4183726_4231929 | 4219895 | G | GTATACAC others(35): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18970.hp1 NA19063.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0164 |
6 | 426 | 0.0141 | 42 | c.403 others(59): Show |
OTOP1 | ENSG00000163982.6 | transcript | ENST00000296358.5 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31564387 | G | GTTTTTTT others(35): Show |
intron_variant | MODIFIER | NA18995.hp2 NA21309.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0068a0004c0013t0004 | a0001c0001t0068g0085 a0004c0013t0004g0189 |
2 | 160 | 0.0125 | 42 | c.332 others(59): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 4/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31860622 | G | GATAAATA others(35): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18983.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0078a0001c0002t0001 | a0001c0001t0078g0035 a0001c0002t0001g0036 |
2 | 26 | 0.0769 | 42 | c.-10 others(61): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
OXCT1_chr5_41725065_41875425 | 41859866 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 187 | 0.0053 | 42 | c.278 others(59): Show |
OXCT1 | ENSG00000083720.13 | transcript | ENST00000196371.10 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
OXCT1_chr5_41725065_41875425 | 41859891 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0094 others(2): Show |
5 | 176 | 0.0284 | 42 | c.278 others(59): Show |
OXCT1 | ENSG00000083720.13 | transcript | ENST00000196371.10 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106746299 | T | TGAGTATT others(35): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02145.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054 a0001c0001t0001g0116 a0001c0001t0002g0004 others(4): Show |
7 | 16 | 0.4375 | 42 | c.248 others(59): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106746299 | T | TGGGTATT others(35): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00609.hp1 others(151): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 others(151): Show |
154 | 163 | 0.9448 | 42 | c.248 others(59): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
P2RX2_chr12_132613776_132627388 | 132618232 | A | AAGAAAGA others(35): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 171 | 0.0117 | 42 | c.-58 others(51): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 543 | chr12 | TogoVar | |||||||
P2RX4_chr12_121205129_121239106 | 121212824 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 | 1 | 47 | 0.0213 | 42 | c.134 others(59): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121136023 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0320 | 1 | 41 | 0.0244 | 42 | c.125 others(59): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1468904 | T | TCCCCTCT others(35): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0026 | 1 | 79 | 0.0127 | 42 | c.-24 others(59): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 189970191 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0289 | 1 | 41 | 0.0244 | 42 | c.189 others(59): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190007965 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | HG02486.hp1 NA19000.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0070 a0001c0002t0003g0184 |
2 | 24 | 0.0833 | 42 | c.481 others(61): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 42971873 | A | AGCCCCGT others(35): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(183): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(16): Show | a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 others(183): Show |
186 | 280 | 0.6643 | 42 | c.-78 others(61): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PAFAH1B1_chr17_2588654_2690615 | 2623752 | A | AGGTAGCT others(35): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0057 | 1 | 227 | 0.0044 | 42 | c.-19 others(63): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2664665 | G | GCGCGCTC others(35): Show |
intron_variant | MODIFIER | NA18946.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 a0001c0001t0003g0224 |
2 | 209 | 0.0096 | 42 | c.33- others(55): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PAGE1_chrX_49682447_49700984 | 49689722 | A | ATACACAC others(35): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 320 | 0.0031 | 42 | c.293 others(57): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9570480 | G | GTACGATG others(35): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(58): Show |
a0001a0005a0006others(1): Show | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(17): Show | a0001c0002t0002g0001 a0001c0002t0002g0180 a0001c0002t0003g0012 others(58): Show |
61 | 206 | 0.2961 | 42 | c.991 others(59): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 4/9 | chr20 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9570483 | T | TGATGGAA others(35): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0044 | 1 | 10 | 0.1000 | 42 | c.991 others(59): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 4/9 | chr20 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9766262 | A | ATTGAATA others(35): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03471.hp1 |
a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0151 a0001c0005t0010g0183 |
2 | 205 | 0.0098 | 42 | c.-16 others(63): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168625502 | G | GATAGATA others(35): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 84 | 0.0119 | 42 | c.909 others(61): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110076492 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG02055.hp2 HG06807.hp1 |
a0001a0003 | a0001c0001a0003c0021 | a0001c0001t0001a0003c0021t0001 | a0001c0001t0001g0031 a0003c0021t0001g0164 |
2 | 62 | 0.0323 | 42 | c.583 others(61): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110098153 | A | AAGAGAGG others(35): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG02280.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0031others(5): Show | a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0001g0100 others(11): Show |
14 | 190 | 0.0737 | 42 | c.583 others(61): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01891.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0078 a0001c0001t0002g0057 a0001c0001t0008g0049 others(1): Show |
4 | 132 | 0.0303 | 42 | c.583 others(57): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0184 | 1 | 129 | 0.0078 | 42 | c.583 others(57): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM_chr19_703935_753329 | 731590 | A | AAGCAGGA others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp1 others(133): Show |
a0001 | a0001c0002a0001c0003a0001c0016 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(18): Show | a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0046 others(127): Show |
136 | 255 | 0.5333 | 42 | c.420 others(57): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102885094 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0009a0001c0005t0002 | a0001c0001t0009g0116 a0001c0005t0002g0047 |
2 | 131 | 0.0153 | 42 | c.211 others(61): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAAAAATA others(35): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01978.hp2 HG02132.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0252 a0001c0001t0001g0266 a0001c0001t0001g0301 others(1): Show |
4 | 162 | 0.0247 | 42 | c.635 others(57): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAAATATA others(35): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 159 | 0.0063 | 42 | c.635 others(57): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0244 | 1 | 194 | 0.0052 | 42 | c.28- others(57): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02738.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0293 a0001c0001t0002g0047 |
2 | 195 | 0.0103 | 42 | c.28- others(57): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 194 | 0.0052 | 42 | c.28- others(57): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0161 | 1 | 194 | 0.0052 | 42 | c.28- others(57): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 194 | 0.0052 | 42 | c.28- others(57): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300937 | C | CTTTCTTT others(35): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 170 | 0.0059 | 42 | c.-27 others(61): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322832 | A | AGAAGAAG others(35): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18964.hp1 NA19009.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0081 others(2): Show |
5 | 225 | 0.0222 | 42 | c.-27 others(63): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34768354 | T | TAACTCGA others(35): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 a0001c0001t0005g0094 |
2 | 69 | 0.0290 | 42 | c.120 others(61): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | |||||||
PARP8_chr5_50661637_50851519 | 50788167 | A | ATATTATA others(35): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0013a0001c0002t0002a0001c0013t0005 | a0001c0001t0013g0192 a0001c0001t0013g0204 a0001c0002t0002g0148 others(2): Show |
5 | 326 | 0.0153 | 42 | c.671 others(57): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 9/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTCCTCC others(35): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0027 | a0001c0027t0039 | a0001c0027t0039g0319 | 1 | 61 | 0.0164 | 42 | c.113 others(61): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(35): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18979.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0310 a0002c0003t0001g0214 |
2 | 62 | 0.0323 | 42 | c.113 others(61): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(35): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0004 | a0004c0020 | a0004c0020t0010 | a0004c0020t0010g0057 | 1 | 61 | 0.0164 | 42 | c.113 others(61): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61997982 | T | TTTTATAT others(35): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0021 | a0021c0032 | a0021c0032t0004 | a0021c0032t0004g0146 | 1 | 98 | 0.0102 | 42 | c.386 others(61): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59632661 | A | ATATATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02622.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0043 others(5): Show |
9 | 251 | 0.0359 | 42 | c.*57 others(53): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 4054 | chr11 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721452 | T | TATATATA others(35): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(301): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(113): Show |
304 | 379 | 0.8021 | 42 | c.*68 others(53): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 2972 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721464 | A | ATGTATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0046a0002c0003t0027 | a0001c0001t0046g0054 a0002c0003t0027g0036 |
3 | 385 | 0.0078 | 42 | c.*69 others(53): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 2984 | chr20 | TogoVar |