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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OTOG_chr11_17542259_17651044 | 17613178 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG02258.hp1 others(1): Show |
a0006a0020 | a0006c0023a0006c0141a0006c0142others(1): Show | a0006c0023t0001a0006c0141t0001a0006c0142t0001others(1): Show | a0006c0023t0001g0044 a0006c0141t0001g0258 a0006c0142t0001g0120 others(1): Show |
4 | 243 | 0.0165 | -19 | c.643 others(36): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OTUD6A_chrX_70057457_70069179 | 70067041 | GAAGGAGG others(12): Show |
G | downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 334 | 0.0030 | -19 | c.*36 others(30): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 2863 | chrX | TogoVar | |||||||
OTUD6B_chr8_91065344_91092093 | 91068440 | AATTTACT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 361 | 0.0028 | -19 | c.-19 others(30): Show |
OTUD6B | ENSG00000155100.11 | transcript | ENST00000404789.8 | protein_coding | 1903 | chr8 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510838 | TATGTATA others(12): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0016 | 1 | 235 | 0.0043 | -19 | c.894 others(36): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510974 | TATGTATA others(12): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0079 a0001c0001t0032g0081 |
2 | 224 | 0.0089 | -19 | c.894 others(36): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31753684 | GAGATATA others(12): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01070.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0004g0105 a0001c0001t0005g0101 a0001c0001t0006g0099 others(14): Show |
17 | 238 | 0.0714 | -19 | c.-99 others(38): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
OTULIN_chr5_14659718_14704850 | 14703324 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02293.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0037others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(8): Show |
14 | 32 | 0.4375 | -19 | c.*10 others(32): Show |
OTULIN | ENSG00000154124.6 | transcript | ENST00000284274.5 | protein_coding | 3475 | chr5 | TogoVar | |||||||
OVCH1_chr12_29434853_29502686 | 29485954 | AAAATAAA others(12): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0041 | a0041c0071 | a0041c0071t0001 | a0041c0071t0001g0079 | 1 | 398 | 0.0025 | -19 | c.991 others(34): Show |
OVCH1 | ENSG00000187950.9 | transcript | ENST00000537054.2 | protein_coding | 8/25 | chr12 | TogoVar | |||||||
OXTR_chr3_8745381_8774613 | 8773226 | CTATATCT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02895.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0008 | a0001c0001t0025g0034 a0001c0002t0008g0011 a0001c0002t0008g0173 |
4 | 472 | 0.0085 | -19 | c.-42 others(30): Show |
OXTR | ENSG00000180914.11 | transcript | ENST00000316793.8 | protein_coding | 3614 | chr3 | TogoVar | |||||||
P2RX4_chr12_121205129_121239106 | 121218464 | CAGAGCAA others(12): Show |
C | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 386 | 0.0026 | -19 | c.282 others(36): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3699879 | AAGGAAGG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 358 | 0.0028 | -19 | c.-38 others(30): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3725 | chr17 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1459354 | TATCTATC others(12): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0005 | a0002c0005t0017 | a0002c0005t0017g0030 | 1 | 113 | 0.0088 | -19 | c.*61 others(30): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 3226 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1514674 | CCTTTCCC others(12): Show |
C | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 113 | 0.0088 | -19 | c.-25 others(38): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1520520 | CATCTCTC others(12): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0017 | 1 | 113 | 0.0088 | -19 | c.-25 others(38): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530145 | GTATGTAT others(12): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0001 | 1 | 109 | 0.0092 | -19 | c.-25 others(36): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530149 | GTATGTAT others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(53): Show |
56 | 84 | 0.6667 | -19 | c.-25 others(36): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530153 | GTATGATC others(12): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 106 | 0.0094 | -19 | c.-25 others(36): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530157 | GATCTATC others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG02273.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0030a0002c0002t0004 | a0001c0001t0002g0013 a0001c0001t0030g0010 a0002c0002t0004g0012 |
3 | 106 | 0.0283 | -19 | c.-25 others(36): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190041091 | CTATATAT others(12): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 299 | 0.0033 | -19 | c.481 others(38): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190052529 | TTTCTCCA others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00597.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0001g0134 others(36): Show |
39 | 302 | 0.1291 | -19 | c.481 others(38): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73037553 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG02976.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0209 a0001c0001t0006g0103 a0001c0001t0006g0143 |
3 | 232 | 0.0129 | -19 | c.114 others(38): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093868 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01256.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0046 others(3): Show |
6 | 230 | 0.0261 | -19 | c.-33 others(36): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093870 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 others(11): Show |
14 | 218 | 0.0642 | -19 | c.-33 others(36): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093872 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0015 others(18): Show |
22 | 225 | 0.0978 | -19 | c.-33 others(36): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
PACRGL_chr4_20695458_20737557 | 20719231 | AGTCTTGC others(12): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 410 | 0.0024 | -19 | c.610 others(36): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 7/8 | chr4 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163196921 | AGACAGAT others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0104 a0001c0001t0002g0056 a0001c0001t0003g0068 others(1): Show |
4 | 128 | 0.0313 | -19 | c.613 others(40): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163213861 | ACATTGGT others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01169.hp2 HG01346.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 others(29): Show |
32 | 130 | 0.2462 | -19 | c.614 others(40): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PACS1_chr11_66065272_66249744 | 66156236 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 319 | 0.0031 | -19 | c.357 others(38): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACSIN3_chr11_47172522_47191434 | 47172924 | ACAGAACA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 362 | 0.0028 | -19 | c.*49 others(30): Show |
PACSIN3 | ENSG00000165912.16 | transcript | ENST00000298838.11 | protein_coding | 4597 | chr11 | TogoVar | |||||||
PACSIN3_chr11_47172522_47191434 | 47174367 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03225.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 2 | 3 | 0.6667 | -19 | c.*35 others(30): Show |
PACSIN3 | ENSG00000165912.16 | transcript | ENST00000298838.11 | protein_coding | 3154 | chr11 | TogoVar | |||||||
PAFAH1B1_chr17_2588654_2690615 | 2621605 | GTCTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | 167 | 0.0359 | -19 | c.-19 others(40): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2621607 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0041 others(23): Show |
26 | 150 | 0.1733 | -19 | c.-19 others(40): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172379 | TATATATA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 | 1 | 430 | 0.0023 | -19 | c.*46 others(30): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1335 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172381 | TATATATA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG03927.hp2 NA18956.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0016 | a0001c0001t0007g0008 a0001c0001t0007g0212 a0001c0001t0016g0208 others(2): Show |
5 | 427 | 0.0117 | -19 | c.*46 others(30): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1337 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172383 | TATATATA others(12): Show |
T | downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0213 | 1 | 430 | 0.0023 | -19 | c.*46 others(30): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1339 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172386 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 | 1 | 429 | 0.0023 | -19 | c.*46 others(30): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1342 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172396 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0019 | 1 | 422 | 0.0024 | -19 | c.*46 others(30): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1352 | chr11 | TogoVar | |||||||
PAGE1_chrX_49682447_49700984 | 49689572 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 316 | 0.0032 | -19 | c.293 others(32): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871932 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 2 | 302 | 0.0066 | -19 | c.442 others(36): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871934 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG01952.hp1 HG01978.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0010 | a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 others(3): Show |
6 | 268 | 0.0224 | -19 | c.442 others(36): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871936 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02895.hp2 |
a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0035 a0001c0007t0010g0037 |
2 | 299 | 0.0067 | -19 | c.442 others(36): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77429076 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp2 NA18973.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0003g0280 |
3 | 300 | 0.0100 | -19 | c.-21 others(38): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9766503 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0008 | 1 | 206 | 0.0049 | -19 | c.-16 others(40): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PALB2_chr16_23598165_23646310 | 23645118 | TATATATA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0221 | 1 | 324 | 0.0031 | -19 | c.-39 others(30): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3809 | chr16 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70545047 | GCAGGTGC others(12): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02622.hp1 others(7): Show |
a0001a0007a0010others(1): Show | a0001c0001a0007c0012a0007c0034others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0245 a0001c0001t0002g0188 a0001c0001t0008g0123 others(7): Show |
10 | 306 | 0.0327 | -19 | c.212 others(38): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759203 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0048 | 1 | 131 | 0.0076 | -19 | c.196 others(40): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | chr4 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 109922421 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00609.hp2 NA19066.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0002 | a0001c0001t0002g0083 a0002c0004t0002g0085 |
2 | 22 | 0.0909 | -19 | c.258 others(36): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110014798 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02723.hp2 HG03195.hp1 |
a0005a0006a0008 | a0005c0008a0006c0009a0008c0010 | a0005c0008t0006a0006c0009t0014a0008c0010t0012 | a0005c0008t0006g0143 a0006c0009t0014g0217 a0008c0010t0012g0182 |
3 | 220 | 0.0136 | -19 | c.497 others(36): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110014800 | AAAAATGT others(12): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02622.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0036others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0214 a0001c0001t0008g0215 others(3): Show |
6 | 198 | 0.0303 | -19 | c.497 others(36): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110014802 | AAATGTAT others(12): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00733.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0189 others(18): Show |
21 | 158 | 0.1329 | -19 | c.497 others(36): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |