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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CROCC2_chr2_240901336_240998311 | 240978452 | GGGTACGA others(308): Show |
G | intron_variant | MODIFIER | HG03098.hp2 NA21309.hp1 |
a0003a0054 | a0003c0003a0054c0036 | a0003c0003t0001a0054c0036t0001 | a0003c0003t0001g0033a0054c0036t0001g0231 | 2 | 350 | 0.0057 | -315 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240978514 | GCCCAGGC others(308): Show |
G | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 350 | 0.0029 | -315 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240979256 | TCTCTGGG others(308): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0059 | a0059c0030 | a0059c0030t0001 | a0059c0030t0001g0025 | 1 | 350 | 0.0029 | -315 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3795708 | TCAAGTAC others(308): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG04204.hp1 |
a0001a0034 | a0001c0047a0034c0055 | a0001c0047t0014a0034c0055t0034 | a0001c0047t0014g0024a0034c0055t0034g0047 | 2 | 126 | 0.0159 | -315 | c.819 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3795709 | CAAGTACA others(308): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01255.hp1 HG02723.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0017others(9): Show | a0001c0001t0002a0001c0003t0013a0001c0017t0005others(9): Show | a0001c0001t0002g0125a0001c0003t0013g0026a0001c0017t0005g0003others(9): Show | 12 | 126 | 0.0952 | -315 | c.819 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3775421 | GGCTGTGG others(308): Show |
G | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 324 | 0.0031 | -315 | c.955 others(17): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3786314 | ATGTGTCC others(308): Show |
A | intron_variant | MODIFIER | NA19000.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0109a0001c0001t0006g0116 | 2 | 324 | 0.0062 | -315 | c.106 others(19): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DDX51_chr12_132131594_132149319 | 132135800 | CGCTCCTC others(308): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp2 | a0005 | a0005c0007 | a0005c0007t0011 | a0005c0007t0011g0019 | 1 | 334 | 0.0030 | -315 | c.*31 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 793 | chr12 | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96751637 | AGACTTCA others(308): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0010a0001c0001t0002g0008a0001c0001t0002g0009others(2): Show | 5 | 147 | 0.0340 | -315 | c.343 others(17): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAH5_chr5_13685328_13949688 | 13855191 | TCATAAAT others(308): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp1 others(103): Show |
a0001a0002a0004others(69): Show | a0001c0006a0001c0035a0001c0143others(80): Show | a0001c0006t0002a0001c0006t0023a0001c0035t0002others(82): Show | a0001c0006t0002g0120a0001c0006t0002g0132a0001c0006t0023g0233others(103): Show | 106 | 252 | 0.4206 | -315 | c.495 others(19): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 30/78 | chr5 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38954411 | TAATAAAT others(308): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(260): Show |
a0001a0002a0003others(76): Show | a0001c0001a0001c0007a0001c0022others(132): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0002others(138): Show | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0092others(260): Show | 263 | 284 | 0.9261 | -315 | c.124 others(21): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EIF2S3_chrX_24049956_24083810 | 24083251 | TAAAAAGA others(308): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(133): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(18): Show | a0001c0001t0001g0186a0001c0001t0006g0190a0001c0001t0006g0191others(95): Show | 136 | 294 | 0.4626 | -315 | c.*64 others(11): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 4442 | chrX | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158803746 | AGGTGAGG others(308): Show |
A | intron_variant | MODIFIER | HG00735.hp1 NA18964.hp2 NA19064.hp1 others(1): Show |
a0003a0008 | a0003c0003a0008c0015 | a0003c0003t0004a0008c0015t0004 | a0003c0003t0004g0018a0003c0003t0004g0339a0003c0003t0004g0344others(1): Show | 4 | 370 | 0.0108 | -315 | c.331 others(17): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
FGGY_chr1_59292094_59767730 | 59582971 | ATTTTGTA others(308): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01255.hp2 HG01981.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0134a0001c0001t0001g0136others(24): Show | 27 | 166 | 0.1627 | -315 | c.904 others(19): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 8/15 | chr1 | TogoVar | ||||||
FOXJ3_chr1_42171548_42340235 | 42277506 | CAAAAAAT others(308): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(218): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(218): Show | 221 | 332 | 0.6657 | -315 | c.369 others(15): Show |
FOXJ3 | ENSG00000198815.9 | transcript | ENST00000361346.6 | protein_coding | 3/12 | chr1 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807214 | ACCCTCCC others(308): Show |
A | downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 314 | 0.0032 | -315 | c.*30 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2928 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31119859 | TAAAAATA others(308): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(56): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0029others(56): Show | 59 | 226 | 0.2611 | -315 | c.129 others(19): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132242609 | CCCCTTCC others(308): Show |
C | intron_variant | MODIFIER | NA18945.hp1 NA18961.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0002 | a0001c0002t0001g0022a0001c0002t0001g0163a0001c0009t0002g0168others(2): Show | 5 | 183 | 0.0273 | -315 | c.107 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GGCT_chr7_30491621_30509829 | 30495985 | TTTTTTTT others(308): Show |
T | downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 444 | 0.0023 | -315 | c.*79 others(10): Show |
GGCT | ENSG00000006625.18 | transcript | ENST00000275428.9 | protein_coding | 635 | chr7 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2605347 | TGCCACCA others(308): Show |
T | intron_variant | MODIFIER | NA18970.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031 | a0001c0001t0005g0061a0001c0001t0031g0175 | 2 | 206 | 0.0097 | -315 | c.-78 others(19): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
GTSF1_chr12_54450957_54478602 | 54459709 | ACTGATAT others(308): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0019others(15): Show | 35 | 360 | 0.0972 | -315 | c.487 others(15): Show |
GTSF1 | ENSG00000170627.11 | transcript | ENST00000305879.8 | protein_coding | 7/8 | chr12 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123517899 | TAAAAATA others(308): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(311): Show | 322 | 350 | 0.9200 | -315 | c.381 others(19): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
HERC3_chr4_88587480_88713539 | 88601757 | TAGAAAAG others(308): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(123): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0001t0001g0037others(119): Show | 126 | 296 | 0.4257 | -315 | c.-29 others(17): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ITGA4_chr2_181452386_181543940 | 181491244 | TAAGAATT others(308): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(59): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(340): Show | 361 | 368 | 0.9810 | -315 | c.115 others(19): Show |
ITGA4 | ENSG00000115232.14 | transcript | ENST00000397033.7 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNH7_chr2_162366407_162843767 | 162809898 | TCTCACCT others(308): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(52): Show | 55 | 100 | 0.5500 | -315 | c.307 others(19): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245443495 | AGGTCATC others(308): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 160 | 0.0063 | -315 | c.116 others(21): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIRREL1_chr1_157988645_158105262 | 158080933 | AATGAGGA others(308): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01099.hp1 others(31): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0045others(9): Show | a0001c0001t0001g0033a0001c0001t0001g0045a0001c0001t0001g0206others(31): Show | 34 | 288 | 0.1181 | -315 | c.352 others(17): Show |
KIRREL1 | ENSG00000183853.18 | transcript | ENST00000359209.11 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAX1_chr1_203760183_203781372 | 203779639 | ACTACTTG others(308): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0002a0001c0006t0018 | a0001c0006t0002g0385a0001c0006t0002g0386a0001c0006t0002g0387others(3): Show | 6 | 422 | 0.0142 | -315 | c.*49 others(11): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 3268 | chr1 | TogoVar | ||||||
LOC400499_chr16_11367015_11532247 | 11445859 | TGTCTTGC others(308): Show |
T | intron_variant | MODIFIER | NA18946.hp2 NA19012.hp1 NA19081.hp2 |
a0080a0182a0184 | a0080c0082a0182c0220a0184c0218 | a0080c0082t0001a0182c0220t0001a0184c0218t0001 | a0080c0082t0001g0218a0182c0220t0001g0149a0184c0218t0001g0097 | 3 | 310 | 0.0097 | -315 | c.483 others(17): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 33/66 | chr16 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132352280 | CGAGGCCT others(308): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG03704.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0102a0001c0011t0001g0103 | 2 | 290 | 0.0069 | -315 | c.107 others(17): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MAP4K4_chr2_101692707_101899690 | 101740138 | TGCTTTAT others(308): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(19): Show | a0001c0001t0004g0003a0001c0001t0004g0004a0001c0001t0004g0005others(77): Show | 80 | 310 | 0.2581 | -315 | c.123 others(19): Show |
MAP4K4 | ENSG00000071054.17 | transcript | ENST00000324219.9 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876869 | GGTTAGGG others(308): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0020 | a0020c0060 | a0020c0060t0001 | a0020c0060t0001g0141 | 1 | 274 | 0.0037 | -315 | c.224 others(19): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195815786 | ACAGGTGC others(308): Show |
A | upstream_gene_variant | MODIFIER | HG03942.hp1 | a0063 | a0063c0165 | a0063c0165t0002 | a0063c0165t0002g0027 | 1 | 249 | 0.0040 | -315 | c.-42 others(11): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3858 | chr3 | TogoVar | ||||||
NCALD_chr8_101681542_101795969 | 101714699 | TAAGAACA others(308): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG02258.hp2 HG02523.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0267a0001c0001t0007g0291a0001c0001t0008g0006others(9): Show | 14 | 300 | 0.0467 | -315 | c.378 others(17): Show |
NCALD | ENSG00000104490.18 | transcript | ENST00000220931.11 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807214 | ACCCTCCC others(308): Show |
A | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 319 | 0.0031 | -315 | c.-20 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1978 | chr2 | TogoVar | ||||||
NHS_chrX_17370200_17740994 | 17502493 | TAAGAAGT others(308): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00639.hp1 others(109): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0029others(109): Show | 112 | 164 | 0.6829 | -315 | c.565 others(21): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NKX1-1_chr4_1397932_1411442 | 1398058 | GGTAGATC others(308): Show |
G | downstream_gene_variant | MODIFIER | HG02056.hp1 HG04115.hp2 NA18955.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001a0001c0001t0000g0006a0001c0001t0000g0007 | 5 | 382 | 0.0131 | -315 | c.*45 others(11): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4873 | chr4 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 84730441 | TAAAACTA others(308): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01192.hp1 others(28): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0036a0001c0001t0001g0126a0001c0001t0001g0131others(28): Show | 31 | 170 | 0.1824 | -315 | c.115 others(19): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PKP2_chr12_32785755_32901777 | 32810665 | TAGAATAA others(308): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0009others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(260): Show | 265 | 342 | 0.7749 | -315 | c.201 others(19): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101782324 | TCTCCCCC others(308): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0082 | 2 | 138 | 0.0145 | -315 | c.94- others(15): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PRB3_chr12_11260914_11274707 | 11267457 | TGGACGAG others(308): Show |
T | disruptive_inframe_deletion | MODERATE | NA18946.hp2 NA18960.hp1 NA19068.hp2 |
a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0022 | 3 | 443 | 0.0068 | -315 | c.477 others(7): Show |
p.Gly others(13): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 829/1227 | 477/1056 | 159/351 | chr12 | TogoVar | ||
PRB3_chr12_11260914_11274707 | 11267466 | TGGGGGAC others(308): Show |
T | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(67): Show |
a0002a0006 | a0002c0002a0002c0041a0006c0007 | a0002c0002t0001a0002c0002t0002a0002c0041t0001others(1): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0012others(7): Show | 70 | 443 | 0.1580 | -315 | c.468 others(7): Show |
p.Pro others(13): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 820/1227 | 468/1056 | 156/351 | chr12 | TogoVar | ||
PRKCZ_chr1_2045411_2190395 | 2123240 | CGGTGGTT others(308): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 286 | 0.0035 | -315 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2123789 | TGGTTAGG others(308): Show |
T | intron_variant | MODIFIER | HG02165.hp2 NA18956.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0037a0001c0004t0002g0038 | 2 | 286 | 0.0070 | -315 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRTN3_chr19_835999_853175 | 837849 | ACCGCGCC others(308): Show |
A | upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 415 | 0.0024 | -315 | c.-31 others(11): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3149 | chr19 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 837859 | GCCACAGC others(308): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(91): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0012others(79): Show | 94 | 415 | 0.2265 | -315 | c.-31 others(11): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3139 | chr19 | TogoVar | ||||||
RAD50_chr5_132551977_132651349 | 132611308 | TTGAACCT others(308): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0121 | 1 | 276 | 0.0036 | -315 | c.303 others(19): Show |
RAD50 | ENSG00000113522.14 | transcript | ENST00000378823.8 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RGS7_chr1_240770514_241362205 | 241197237 | ACTAATCA others(308): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0022others(89): Show | 92 | 112 | 0.8214 | -315 | c.79- others(17): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1739807 | GGGCCTGA others(308): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0133 | 1 | 445 | 0.0023 | -315 | c.-31 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3063 | chr17 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 15195881 | TAGGCTTC others(308): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015a0001c0001t0025others(2): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0001c0001t0015g0005others(3): Show | 6 | 102 | 0.0588 | -315 | c.39+ others(17): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar |