| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PRKCZ_chr1_2045411_2190395 | 2122629 | AGGGTTGT others(145): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 286 | 0.0035 | -152 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKD1_chr14_29571479_29932847 | 29826309 | TATATATA others(145): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0119a0001c0001t0002g0066a0001c0001t0002g0071others(2): Show | 5 | 156 | 0.0321 | -152 | c.265 others(21): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
| PRKG1_chr10_51069487_52303350 | 51858133 | TATACATA others(145): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02615.hp1 HG02818.hp1 |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0013a0001c0007t0004a0001c0008t0001 | a0001c0001t0013g0012a0001c0007t0004g0056a0001c0008t0001g0020 | 3 | 64 | 0.0469 | -152 | c.699 others(19): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PRKG1_chr10_51069487_52303350 | 52302255 | TACACACA others(145): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 1 | 64 | 0.0156 | -152 | c.*83 others(11): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3906 | chr10 | TogoVar | |||||||
| PROP1_chr5_177987235_178001242 | 177999287 | TTCACTCT others(145): Show |
T | upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 436 | 0.0023 | -152 | c.-35 others(11): Show |
PROP1 | ENSG00000175325.2 | transcript | ENST00000308304.2 | protein_coding | 3046 | chr5 | TogoVar | |||||||
| PSCA_chr8_142675495_142687725 | 142685124 | GGCTCAGG others(145): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02723.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0002t0002g0001 | 7 | 432 | 0.0162 | -152 | c.*29 others(11): Show |
PSCA | ENSG00000167653.5 | transcript | ENST00000301258.5 | protein_coding | 2400 | chr8 | TogoVar | |||||||
| PSCA_chr8_142675495_142687725 | 142685380 | GCAGATAC others(145): Show |
G | downstream_gene_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 432 | 0.0023 | -152 | c.*32 others(11): Show |
PSCA | ENSG00000167653.5 | transcript | ENST00000301258.5 | protein_coding | 2656 | chr8 | TogoVar | |||||||
| PTMA_chr2_231703525_231718551 | 231715740 | CCTCACTG others(145): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp2 HG02080.hp2 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0011a0001c0001t0002g0004a0001c0001t0004g0007others(5): Show | 17 | 392 | 0.0434 | -152 | c.*28 others(11): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 2190 | chr2 | TogoVar | |||||||
| PTP4A3_chr8_141387021_141437454 | 141429666 | AGTCCCCG others(145): Show |
A | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 323 | 0.0031 | -152 | c.405 others(17): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| RAD51B_chr14_67814779_68483093 | 67910287 | TAAATATT others(145): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01175.hp1 others(42): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(42): Show | 45 | 84 | 0.5357 | -152 | c.756 others(19): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114098934 | GGACCACA others(145): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG02257.hp1 HG02300.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0003others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0035others(5): Show | 8 | 67 | 0.1194 | -152 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 114111157 | GCCGAGTT others(145): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01167.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0007t0002a0001c0009t0008 | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0043others(9): Show | 12 | 67 | 0.1791 | -152 | c.55+ others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RASGEF1C_chr5_180095795_180214211 | 180113320 | GGACCGGG others(145): Show |
G | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0204 | 1 | 370 | 0.0027 | -152 | c.117 others(18): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 11/13 | chr5 | TogoVar | |||||||
| RBFOX3_chr17_79084345_79616051 | 79203446 | CGTGTAAG others(145): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 154 | 0.0065 | -152 | c.-34 others(19): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
| RBM26_chr13_79313868_79411255 | 79373006 | TATAAGAT others(145): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(76): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0010 | a0001c0002t0001a0001c0002t0003a0001c0002t0019others(5): Show | a0001c0002t0001g0010a0001c0002t0001g0011a0001c0002t0001g0209others(74): Show | 79 | 328 | 0.2409 | -152 | c.328 others(17): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 3/21 | chr13 | TogoVar | |||||||
| RGPD1_chr2_86937118_87018976 | 86942393 | GGGCGGCG others(145): Show |
G | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0092 | 1 | 102 | 0.0098 | -152 | c.72+ others(13): Show |
RGPD1 | ENSG00000187627.18 | transcript | ENST00000641458.2 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| RHBDL3_chr17_32260832_32329659 | 32276804 | GGCCCTAG others(145): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0196 | 1 | 306 | 0.0033 | -152 | c.136 others(17): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RIMBP2_chr12_130391133_130721299 | 130532026 | GACGTCTA others(145): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01074.hp1 others(8): Show |
a0001a0008a0018 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0092a0001c0001t0001g0113a0001c0003t0001g0077others(8): Show | 11 | 180 | 0.0611 | -152 | c.-21 others(21): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130539763 | CATGAAGT others(145): Show |
C | intron_variant | MODIFIER | HG00741.hp1 NA18964.hp1 NA18964.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0092a0001c0003t0001g0116a0001c0004t0001g0001others(2): Show | 5 | 180 | 0.0278 | -152 | c.-21 others(21): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
| RNFT2_chr12_116733315_116858631 | 116841812 | TATATAAA others(145): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0137 | 1 | 268 | 0.0037 | -152 | c.120 others(19): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| RPRD1A_chr18_35984824_36072559 | 35987427 | CAATTGGA others(145): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087a0001c0001t0003g0090a0001c0001t0003g0091others(2): Show | 5 | 318 | 0.0157 | -152 | c.*55 others(11): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 2396 | chr18 | TogoVar | |||||||
| RPS6KA6_chrX_84053350_84193199 | 84191533 | TATATATA others(145): Show |
T | upstream_gene_variant | MODIFIER | HG02080.hp1 HG02647.hp1 HG02698.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0101others(1): Show | a0001c0001t0013g0253a0001c0001t0014g0102a0001c0001t0101g0244others(1): Show | 4 | 272 | 0.0147 | -152 | c.-37 others(11): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3335 | chrX | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1288554 | TGTCTCTG others(145): Show |
T | intron_variant | MODIFIER | HG03490.hp2 | a0019 | a0019c0026 | a0019c0026t0001 | a0019c0026t0001g0014 | 1 | 290 | 0.0035 | -152 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1289015 | TCCCGTGT others(145): Show |
T | intron_variant | MODIFIER | NA19007.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0005 | 1 | 290 | 0.0035 | -152 | c.166 others(18): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCTR_chr2_119434843_119529483 | 119444774 | TACACATA others(145): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG01358.hp2 others(26): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0107a0001c0001t0001g0127a0001c0001t0001g0137others(26): Show | 29 | 290 | 0.1000 | -152 | c.114 others(19): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
| SDK1_chr7_3296252_4274000 | 3708269 | CACCTCCA others(145): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02965.hp2 HG03195.hp2 others(3): Show |
a0001a0002a0005 | a0001c0011a0001c0031a0001c0037others(3): Show | a0001c0011t0039a0001c0031t0001a0001c0037t0002others(3): Show | a0001c0011t0039g0061a0001c0031t0001g0018a0001c0037t0002g0077others(3): Show | 6 | 116 | 0.0517 | -152 | c.713 others(19): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SH2D4A_chr8_19308693_19401218 | 19387004 | TACCACCA others(145): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0011a0001c0003t0002a0001c0003t0003others(2): Show | a0001c0001t0011g0049a0001c0003t0002g0274a0001c0003t0003g0066others(3): Show | 6 | 354 | 0.0170 | -152 | c.104 others(19): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SH2D4A_chr8_19308693_19401218 | 19387156 | CACCACCA others(145): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0002a0001c0001t0013a0001c0003t0005others(14): Show | a0001c0001t0002g0030a0001c0001t0002g0033a0001c0001t0002g0095others(36): Show | 40 | 354 | 0.1130 | -152 | c.104 others(19): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SIPA1L2_chr1_232392965_232635133 | 232415787 | TCCCTCCC others(145): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01109.hp1 HG01243.hp2 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0023others(32): Show | a0001c0001t0001g0087a0001c0001t0006g0008a0001c0001t0023g0280others(45): Show | 48 | 292 | 0.1644 | -152 | c.463 others(17): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 18/22 | chr1 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1070280 | CCCCCAGC others(145): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 118 | 0.0085 | -152 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
| SLC24A4_chr14_92318165_92506481 | 92488418 | CTCTAATT others(145): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(175): Show | a0001c0001t0001g0021a0001c0001t0001g0206a0001c0001t0001g0209others(275): Show | 280 | 282 | 0.9929 | -152 | c.153 others(19): Show |
SLC24A4 | ENSG00000140090.18 | transcript | ENST00000532405.6 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| SLC39A14_chr8_22362278_22427736 | 22396405 | GAGAGAGA others(145): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0289 | 1 | 324 | 0.0031 | -152 | c.-15 others(17): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
| SLC45A4_chr8_141202174_141313288 | 141203248 | AGGGAGAG others(145): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0021 | a0001c0021t0011 | a0001c0021t0011g0002 | 1 | 188 | 0.0053 | -152 | c.*81 others(11): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3925 | chr8 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79920570 | GAGGAGAG others(145): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 352 | 0.0028 | -152 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79920962 | CGGGAACC others(145): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0021 | a0001c0001t0007g0269a0001c0001t0021g0268 | 2 | 352 | 0.0057 | -152 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79920983 | GGGTCAGA others(145): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00639.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0004g0004a0001c0001t0004g0133a0001c0001t0004g0134others(4): Show | 8 | 352 | 0.0227 | -152 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79921040 | AGGAACCG others(145): Show |
A | intron_variant | MODIFIER | NA18964.hp2 NA18966.hp1 NA18979.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0114a0001c0001t0004g0115a0001c0001t0004g0251others(3): Show | 6 | 352 | 0.0171 | -152 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79921546 | GGAGAGGT others(145): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0206 | 1 | 352 | 0.0028 | -152 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79921556 | GGGTCAGA others(145): Show |
G | intron_variant | MODIFIER | HG02132.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0103a0001c0001t0018g0100 | 2 | 352 | 0.0057 | -152 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| SLC9A3_chr5_465456_529449 | 481884 | CCCCCCCC others(145): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG03471.hp1 NA19030.hp2 others(1): Show |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0001a0001c0001t0024a0001c0001t0033others(1): Show | a0001c0001t0001g0122a0001c0001t0024g0119a0001c0001t0033g0188others(1): Show | 4 | 218 | 0.0184 | -152 | c.144 others(16): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
| SMOC2_chr6_168436184_168672992 | 168538557 | TGGGGGAG others(145): Show |
T | intron_variant | MODIFIER | HG03209.hp2 NA21309.hp1 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0008a0001c0011t0006 | a0001c0002t0008g0045a0001c0011t0006g0167 | 2 | 180 | 0.0111 | -152 | c.464 others(17): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SPAG16_chr2_213279464_214415501 | 213980301 | ATATTCTC others(145): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01496.hp1 HG01516.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(3): Show | a0001c0001t0001g0013a0002c0002t0002g0074a0003c0003t0001g0028others(14): Show | 17 | 86 | 0.1977 | -152 | c.140 others(21): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
| SPATC1L_chr21_46156160_46189459 | 46169975 | CCCCTGCT others(145): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0008a0001c0001t0029a0004c0005t0039 | a0001c0001t0008g0021a0001c0001t0008g0194a0001c0001t0008g0195others(5): Show | 9 | 251 | 0.0359 | -152 | c.194 others(17): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
| SYK_chr9_90796819_90903549 | 90842472 | GTGTATGT others(145): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0225 | 1 | 376 | 0.0027 | -152 | c.-41 others(17): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| TAF13_chr1_109059140_109081003 | 109071969 | TATATATA others(145): Show |
T | intron_variant | MODIFIER | HG01928.hp2 HG03017.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0011 | a0001c0001t0003g0159a0001c0001t0007g0176a0001c0001t0011g0105 | 3 | 414 | 0.0073 | -152 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
| TERT_chr5_1248167_1300068 | 1273402 | ACACATCA others(145): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 | 1 | 392 | 0.0026 | -152 | c.228 others(19): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
| TMEM163_chr2_134450759_134724000 | 134608175 | GACAGACC others(145): Show |
G | intron_variant | MODIFIER | HG02886.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0002g0013 | 2 | 222 | 0.0090 | -152 | c.323 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
| TMEM87B_chr2_112050269_112124314 | 112114243 | TGTAGCAT others(145): Show |
T | intron_variant | MODIFIER | NA18947.hp2 NA18987.hp1 NA18995.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0135a0002c0002t0003g0165a0002c0002t0003g0167 | 3 | 316 | 0.0095 | -152 | c.160 others(19): Show |
TMEM87B | ENSG00000153214.11 | transcript | ENST00000283206.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| TMEM87B_chr2_112050269_112124314 | 112114319 | GGTAGCAT others(145): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0005 | a0001c0005t0020 | a0001c0005t0020g0292 | 1 | 316 | 0.0032 | -152 | c.160 others(19): Show |
TMEM87B | ENSG00000153214.11 | transcript | ENST00000283206.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| TMEM87B_chr2_112050269_112124314 | 112114826 | AAAGATTC others(145): Show |
A | intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0181 | 1 | 316 | 0.0032 | -152 | c.160 others(19): Show |
TMEM87B | ENSG00000153214.11 | transcript | ENST00000283206.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |