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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKCA_chr17_66297613_66815743 | 66799529 | ATGGTGGT others(65): Show |
A | intron_variant | MODIFIER | HG02004.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0090 | a0001c0002t0008g0005 a0001c0002t0090g0119 |
2 | 178 | 0.0112 | -72 | c.185 others(91): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKD1_chr14_29571479_29932847 | 29919688 | CGCAGTGG others(65): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 HG03471.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0001a0001c0001t0002a0007c0013t0001 | a0001c0001t0001g0088 a0001c0001t0002g0071 a0001c0001t0002g0082 others(2): Show |
5 | 156 | 0.0321 | -72 | c.264 others(89): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 52302460 | GCACATAT others(65): Show |
G | downstream_gene_variant | MODIFIER | HG03579.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0059 |
2 | 64 | 0.0313 | -72 | c.*85 others(83): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 4111 | chr10 | TogoVar | |||||||
PRSS57_chr19_680546_700452 | 692177 | CTGATCAA others(65): Show |
C | intron_variant | MODIFIER | HG00639.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 2 | 442 | 0.0045 | -72 | c.234 others(87): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PSMD13_chr11_231976_257984 | 249549 | GGGGAGAG others(65): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 NA18948.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0248 a0001c0001t0002g0263 a0002c0002t0002g0358 |
3 | 450 | 0.0067 | -72 | c.774 others(87): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1114681 | GCTGTCTG others(65): Show |
G | upstream_gene_variant | MODIFIER | NA19087.hp2 | a0003 | a0003c0004 | a0003c0004t0036 | a0003c0004t0036g0024 | 1 | 326 | 0.0031 | -72 | c.-40 others(83): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3920 | chr20 | TogoVar | |||||||
PSMF1_chr20_1113602_1177246 | 1114726 | CCAGTGTC others(65): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0008 | a0004c0008t0033 | a0004c0008t0033g0050 | 1 | 326 | 0.0031 | -72 | c.-40 others(83): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3875 | chr20 | TogoVar | |||||||
PTGFR_chr1_78485974_78545701 | 78532394 | ATATGTAT others(65): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00621.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(33): Show |
51 | 386 | 0.1321 | -72 | c.799 others(89): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTGFR_chr1_78485974_78545701 | 78532400 | ATATATGT others(65): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0345 a0001c0001t0009g0092 |
2 | 386 | 0.0052 | -72 | c.799 others(89): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8059013 | GGATGGCA others(65): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02572.hp1 HG02723.hp1 others(1): Show |
a0001a0002 | a0001c0006a0002c0010a0002c0011 | a0001c0006t0002a0001c0006t0004a0002c0010t0001others(1): Show | a0001c0006t0002g0012 a0001c0006t0004g0070 a0002c0010t0001g0047 others(1): Show |
4 | 80 | 0.0500 | -72 | c.113 others(93): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTTG1IP_chr21_44844598_44878690 | 44873903 | TGGGCGAG others(65): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp2 HG02886.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0246 a0001c0001t0004g0099 a0001c0001t0004g0123 |
3 | 444 | 0.0068 | -72 | c.-35 others(81): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 214 | chr21 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668531 | AATATATG others(65): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0007a0003c0003t0044 | a0003c0003t0007g0065 a0003c0003t0007g0066 a0003c0003t0044g0014 |
4 | 412 | 0.0097 | -72 | c.*67 others(83): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2370 | chr19 | TogoVar | |||||||
R3HDM1_chr2_135526484_135730269 | 135687549 | TTCTCCAA others(65): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01433.hp1 HG03491.hp1 others(1): Show |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0001a0005c0006t0001 | a0003c0003t0001g0011 a0003c0003t0001g0060 a0003c0003t0001g0061 others(1): Show |
4 | 232 | 0.0172 | -72 | c.245 others(91): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 510063 | GCGTTGTG others(65): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01261.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0015a0001c0002t0009a0001c0002t0019others(8): Show | a0001c0001t0015g0039 a0001c0002t0009g0040 a0001c0002t0009g0041 others(18): Show |
21 | 295 | 0.0712 | -72 | c.150 others(89): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 510181 | CCCGTGCC others(65): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0082 | 1 | 295 | 0.0034 | -72 | c.150 others(89): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4803340 | GTCCCCTC others(65): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp1 HG01496.hp2 others(5): Show |
a0006a0018a0019 | a0006c0010a0018c0059a0019c0060 | a0006c0010t0007a0006c0010t0023a0018c0059t0038others(1): Show | a0006c0010t0007g0016 a0006c0010t0007g0100 a0006c0010t0007g0101 others(5): Show |
8 | 292 | 0.0274 | -72 | c.249 others(89): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 11/14 | chr7 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114030382 | ACTCACAC others(65): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041 others(1): Show |
4 | 67 | 0.0597 | -72 | c.373 others(87): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 4/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114030484 | GGCAAGAC others(65): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 | 1 | 67 | 0.0149 | -72 | c.373 others(87): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 4/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114034923 | TCTGAACG others(65): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02258.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0002c0004t0004a0002c0004t0009 | a0001c0001t0004g0066 a0002c0004t0004g0001 a0002c0004t0004g0029 others(1): Show |
4 | 67 | 0.0597 | -72 | c.373 others(89): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 4/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114120114 | CTCCCCTC others(65): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0061 | 1 | 67 | 0.0149 | -72 | c.55+ others(89): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7186219 | TATATAAA others(65): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0066 a0001c0001t0016g0011 |
2 | 68 | 0.0294 | -72 | c.27+ others(91): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7229816 | AAGGAAGG others(65): Show |
A | intron_variant | MODIFIER | HG03195.hp1 HG03195.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022a0001c0001t0029others(1): Show | a0001c0001t0001g0020 a0001c0001t0022g0009 a0001c0001t0029g0001 others(1): Show |
4 | 68 | 0.0588 | -72 | c.27+ others(91): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7229870 | AAGGAAGG others(65): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0043 | a0001c0001t0007g0039 a0001c0001t0043g0003 |
2 | 68 | 0.0294 | -72 | c.27+ others(91): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7504715 | ATATATAT others(65): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0063 | 1 | 234 | 0.0043 | -72 | c.88- others(89): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79462991 | TGCCACTG others(65): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0018 | 1 | 154 | 0.0065 | -72 | c.-17 others(93): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
RBM26_chr13_79313868_79411255 | 79372932 | AGATATAT others(65): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0193 | 1 | 328 | 0.0031 | -72 | c.328 others(89): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 3/21 | chr13 | TogoVar | |||||||
RBM26_chr13_79313868_79411255 | 79392113 | AATTATAT others(65): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0075 a0001c0001t0002g0006 a0001c0001t0002g0007 others(246): Show |
258 | 328 | 0.7866 | -72 | c.72- others(89): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 1/21 | chr13 | TogoVar | |||||||
RCN3_chr19_49523003_49548633 | 49544638 | CAGAGAGA others(65): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01070.hp2 others(29): Show |
a0002a0003a0007 | a0002c0002a0002c0004a0002c0013others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0013t0002others(3): Show | a0002c0002t0002g0007 a0002c0002t0002g0027 a0002c0002t0002g0028 others(22): Show |
32 | 380 | 0.0842 | -72 | c.*14 others(83): Show |
RCN3 | ENSG00000142552.8 | transcript | ENST00000270645.8 | protein_coding | 1006 | chr19 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111422608 | ATATACAC others(65): Show |
A | intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0241 | 1 | 288 | 0.0035 | -72 | c.140 others(89): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
RGL3_chr19_11389060_11424314 | 11414159 | ATATATAT others(65): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0350 | 1 | 402 | 0.0025 | -72 | c.637 others(89): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47074212 | AAAGAAAG others(65): Show |
A | upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 304 | 0.0033 | -72 | c.-51 others(83): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4230 | chrX | TogoVar | |||||||
RGPD1_chr2_86937118_87018976 | 86952962 | GTGTGCAA others(65): Show |
G | disruptive_inframe_deletion | MODERATE | HG04204.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0003 | 1 | 102 | 0.0098 | -72 | c.159 others(79): Show |
p.Ser others(17): Show |
RGPD1 | ENSG00000187627.18 | transcript | ENST00000641458.2 | protein_coding | 3/23 | 278/6819 | 159/5271 | 53/1756 | chr2 | TogoVar | |||
RGPD2_chr2_87750960_87830796 | 87825440 | CGCCCGGC others(65): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 176 | 0.0057 | -72 | c.72+ others(85): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGS7BP_chr5_64501015_64617319 | 64605951 | CATATATA others(65): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 280 | 0.0036 | -72 | c.683 others(89): Show |
RGS7BP | ENSG00000186479.5 | transcript | ENST00000334025.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646101 | CCCTCTCC others(65): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0009 | a0001c0001t0001g0158 a0001c0005t0009g0157 |
2 | 180 | 0.0111 | -72 | c.-35 others(93): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646370 | ACCACCTC others(65): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03098.hp1 |
a0001 | a0001c0024a0001c0049 | a0001c0024t0001a0001c0049t0001 | a0001c0024t0001g0170 a0001c0049t0001g0169 |
2 | 180 | 0.0111 | -72 | c.-35 others(93): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80314416 | TGGTGGAG others(65): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0155 | 1 | 292 | 0.0034 | -72 | c.281 others(91): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314692 | TGGTGGAG others(65): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(22): Show |
a0001a0002a0011others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0034others(16): Show | a0001c0001t0001g0040 a0001c0001t0001g0112 a0001c0001t0001g0128 others(22): Show |
25 | 292 | 0.0856 | -72 | c.281 others(91): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314916 | ATGGTGGT others(65): Show |
A | intron_variant | MODIFIER | NA18945.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0075 | a0001c0001t0001g0288 a0001c0001t0075g0287 |
2 | 292 | 0.0069 | -72 | c.281 others(91): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314925 | GTGAAGGT others(65): Show |
G | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0076 | a0001c0076t0011 | a0001c0076t0011g0216 | 1 | 292 | 0.0034 | -72 | c.281 others(91): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80314955 | ATGGTGGT others(65): Show |
A | intron_variant | MODIFIER | NA18969.hp1 | a0087 | a0087c0098 | a0087c0098t0001 | a0087c0098t0001g0285 | 1 | 292 | 0.0034 | -72 | c.281 others(91): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF4_chr4_2464106_2520857 | 2465515 | ACAGCTAA others(65): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02258.hp2 HG02451.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0150 a0001c0001t0005g0020 a0001c0001t0006g0151 others(14): Show |
17 | 378 | 0.0450 | -72 | c.-39 others(83): Show |
RNF4 | ENSG00000063978.17 | transcript | ENST00000314289.13 | protein_coding | 3590 | chr4 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60816069 | ATAAACAG others(65): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0018 | 1 | 118 | 0.0085 | -72 | c.167 others(93): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103250076 | TCCTCCAC others(65): Show |
T | downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | -72 | c.*33 others(83): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 2061 | chr10 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 243299 | ACCTTTCC others(65): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 NA18983.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0110 a0001c0001t0003g0081 a0001c0004t0001g0048 |
3 | 133 | 0.0226 | -72 | c.613 others(89): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665451 | TCCTTTCC others(65): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0004 | 1 | 196 | 0.0051 | -72 | c.348 others(91): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80743863 | CTACTAGC others(65): Show |
C | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0041 | a0001c0041t0004 | a0001c0041t0004g0175 | 1 | 196 | 0.0051 | -72 | c.655 others(91): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744397 | TCCTGGCT others(65): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0025 | a0001c0025t0052 | a0001c0025t0052g0181 | 1 | 196 | 0.0051 | -72 | c.655 others(89): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744403 | CTACTAGC others(65): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 |
a0001 | a0001c0010a0001c0028 | a0001c0010t0009a0001c0028t0006 | a0001c0010t0009g0058 a0001c0028t0006g0124 |
2 | 196 | 0.0102 | -72 | c.655 others(89): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744475 | TTACTAGC others(65): Show |
T | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0033 | a0001c0033t0023 | a0001c0033t0023g0075 | 1 | 196 | 0.0051 | -72 | c.655 others(89): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |