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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OTULIN_chr5_14659718_14704850 | 14664886 | CCGGCGCG others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG02559.hp2 HG02615.hp2 HG02647.hp2 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0025a0002c0002t0035 | a0002c0002t0003g0007 a0002c0002t0003g0076 a0002c0002t0003g0077 others(3): Show |
15 | 352 | 0.0426 | -21 | c.72_ others(26): Show |
p.Glu others(11): Show |
OTULIN | ENSG00000154124.6 | transcript | ENST00000284274.5 | protein_coding | 1/7 | 180/7969 | 72/1059 | 24/352 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
OTULIN_chr5_14659718_14704850 | 14703324 | CAAAAAAA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01074.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0108 others(1): Show |
7 | 25 | 0.2800 | -21 | c.*10 others(34): Show |
OTULIN | ENSG00000154124.6 | transcript | ENST00000284274.5 | protein_coding | 3475 | chr5 | TogoVar | |||||||
OVCH1_chr12_29434853_29502686 | 29485964 | AAAATAAA others(14): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0346 | 1 | 365 | 0.0027 | -21 | c.991 others(36): Show |
OVCH1 | ENSG00000187950.9 | transcript | ENST00000537054.2 | protein_coding | 8/25 | chr12 | TogoVar | |||||||
OVOL2_chr20_18019163_18062916 | 18039932 | TTTTTCCC others(14): Show |
T | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 384 | 0.0026 | -21 | c.511 others(38): Show |
OVOL2 | ENSG00000125850.11 | transcript | ENST00000278780.7 | protein_coding | 3/3 | chr20 | TogoVar | |||||||
OXNAD1_chr3_16260212_16311087 | 16268313 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02145.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0203 a0001c0001t0003g0017 a0001c0001t0003g0018 others(12): Show |
20 | 76 | 0.2632 | -21 | c.-15 others(38): Show |
OXNAD1 | ENSG00000154814.14 | transcript | ENST00000285083.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106339516 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0074 |
2 | 165 | 0.0121 | -21 | c.-13 others(42): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106405181 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 170 | 0.0059 | -21 | c.23+ others(38): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | chr8 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106410056 | CTGAAAAC others(14): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 170 | 0.0059 | -21 | c.23+ others(38): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXSR1_chr3_38160537_38260484 | 38184903 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 | 1 | 43 | 0.0233 | -21 | c.183 others(38): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
P2RY11_chr19_10106693_10120372 | 10119050 | TGGCAGTC others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(173): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0001c0021others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0012 others(16): Show |
176 | 450 | 0.3911 | -21 | c.*43 others(32): Show |
P2RY11 | ENSG00000244165.2 | transcript | ENST00000321826.5 | protein_coding | 3679 | chr19 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73037551 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 232 | 0.0043 | -21 | c.114 others(40): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73042917 | GATAAGGT others(14): Show |
G | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0054 | 1 | 232 | 0.0043 | -21 | c.114 others(40): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73059423 | TTAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0070 | 1 | 145 | 0.0069 | -21 | c.464 others(38): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 5/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093868 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0085 | 1 | 225 | 0.0044 | -21 | c.-33 others(38): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093870 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0089 | 1 | 205 | 0.0049 | -21 | c.-33 others(38): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
PACC1_chr1_212358928_212419886 | 212381674 | ACAGACAC others(14): Show |
A | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0334 | 1 | 372 | 0.0027 | -21 | c.496 others(38): Show |
PACC1 | ENSG00000065600.13 | transcript | ENST00000261455.9 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163102702 | TACCAACT others(14): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0047 others(5): Show |
8 | 130 | 0.0615 | -21 | c.613 others(40): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163269873 | GAAAGAAA others(14): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 130 | 0.0077 | -21 | c.614 others(40): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66156234 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03453.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0300 |
3 | 320 | 0.0094 | -21 | c.357 others(40): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66162703 | AGCTTTAG others(14): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03486.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 a0001c0001t0003g0311 a0001c0001t0003g0313 |
3 | 320 | 0.0094 | -21 | c.357 others(40): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66202739 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 others(1): Show |
4 | 318 | 0.0126 | -21 | c.445 others(38): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66215902 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | HG02735.hp1 HG03831.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0052 a0001c0001t0001g0056 |
3 | 138 | 0.0217 | -21 | c.661 others(36): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PADI1_chr1_17200128_17251007 | 17215378 | TTCATCAT others(14): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 346 | 0.0029 | -21 | c.93- others(36): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PADI2_chr1_17061761_17124451 | 17113251 | CTATTATT others(14): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0028 | a0001c0028t0017 | a0001c0028t0017g0235 | 1 | 6 | 0.1667 | -21 | c.92+ others(36): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
PAF1_chr19_39380629_39396106 | 39393072 | CTTTCTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | -21 | c.-22 others(32): Show |
PAF1 | ENSG00000006712.15 | transcript | ENST00000221265.8 | protein_coding | 1967 | chr19 | TogoVar | |||||||
PAF1_chr19_39380629_39396106 | 39395090 | GCAATTCA others(14): Show |
G | upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | -21 | c.-42 others(32): Show |
PAF1 | ENSG00000006712.15 | transcript | ENST00000221265.8 | protein_coding | 3985 | chr19 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172381 | TATATATA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0207 | 1 | 423 | 0.0024 | -21 | c.*46 others(32): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1337 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172384 | ATATATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 424 | 0.0024 | -21 | c.*46 others(32): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1340 | chr11 | TogoVar | |||||||
PAGE2_chrX_55084018_55097842 | 55097526 | GCTTCATC others(14): Show |
G | downstream_gene_variant | MODIFIER | NA18953.hp1 NA18955.hp1 NA18968.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
8 | 316 | 0.0253 | -21 | c.*47 others(32): Show |
PAGE2 | ENSG00000234068.7 | transcript | ENST00000374968.9 | protein_coding | 4685 | chrX | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871932 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01515.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0002 | a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0011t0002g0082 |
3 | 303 | 0.0099 | -21 | c.442 others(38): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871936 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02976.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0016 | a0001c0001t0002g0018 a0001c0001t0002g0159 a0001c0006t0016g0158 |
3 | 300 | 0.0100 | -21 | c.442 others(38): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871938 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0071 |
2 | 306 | 0.0065 | -21 | c.442 others(38): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871940 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 311 | 0.0032 | -21 | c.442 others(38): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77388191 | CAGATTTA others(14): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 300 | 0.0033 | -21 | c.190 others(38): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77429056 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0052 a0001c0001t0005g0292 |
2 | 117 | 0.0171 | -21 | c.-21 others(40): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
PAK4_chr19_39120786_39184404 | 39146664 | ACACCATC others(14): Show |
A | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 366 | 0.0027 | -21 | c.-96 others(40): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9766445 | TGTATATA others(14): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0183 | 1 | 203 | 0.0049 | -21 | c.-16 others(42): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PALB2_chr16_23598165_23646310 | 23645106 | TATATATA others(14): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074 a0001c0001t0002g0038 |
2 | 324 | 0.0062 | -21 | c.-39 others(32): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3797 | chr16 | TogoVar | |||||||
PALB2_chr16_23598165_23646310 | 23645112 | TATATATA others(14): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0041 | 1 | 324 | 0.0031 | -21 | c.-39 others(32): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3803 | chr16 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168536572 | AGCAAGAC others(14): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0018 | a0002c0018t0007 | a0002c0018t0007g0012 | 1 | 154 | 0.0065 | -21 | c.908 others(40): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168709612 | GAAGGAAG others(14): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0151 | 1 | 129 | 0.0078 | -21 | c.162 others(38): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759203 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp2 HG02896.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0008others(1): Show | a0001c0001t0001a0001c0004t0003a0001c0004t0006others(3): Show | a0001c0001t0001g0051 a0001c0004t0003g0020 a0001c0004t0006g0092 others(4): Show |
7 | 137 | 0.0511 | -21 | c.196 others(42): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | chr4 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 110014802 | AAATGTAT others(14): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0166 a0001c0007t0001g0133 |
2 | 139 | 0.0144 | -21 | c.497 others(38): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683090 | GAAAGAAA others(14): Show |
G | intron_variant | MODIFIER | HG01256.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0302 | 1 | 343 | 0.0029 | -21 | c.252 others(38): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67284547 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 137 | 0.0073 | -21 | c.367 others(38): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168579400 | CGGGCGGG others(14): Show |
C | upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 414 | 0.0024 | -21 | c.-13 others(30): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 33 | chr5 | TogoVar | |||||||
PANX1_chr11_94123841_94186968 | 94126126 | GCATTTGA others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(260): Show |
a0001a0004a0005others(5): Show | a0001c0001a0004c0004a0005c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0020 others(219): Show |
263 | 406 | 0.6478 | -21 | c.-31 others(32): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 2714 | chr11 | TogoVar | |||||||
PANX3_chr11_124606428_124625356 | 124616980 | TTCTCTCT others(14): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp1 others(96): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0003a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(34): Show |
99 | 418 | 0.2368 | -21 | c.325 others(36): Show |
PANX3 | ENSG00000154143.3 | transcript | ENST00000284288.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176576103 | GTGAAATT others(14): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03579.hp2 NA19240.hp1 |
a0002 | a0002c0004 | a0002c0004t0005a0002c0004t0007 | a0002c0004t0005g0014 a0002c0004t0007g0031 a0002c0004t0007g0042 |
3 | 116 | 0.0259 | -21 | c.920 others(40): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300646 | TTTCTTTT others(14): Show |
T | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 280 | 0.0036 | -21 | c.-27 others(40): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |