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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RHOH_chr4_40192031_40251967 | 40251342 | A | AAAAACAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 316 | 0.0032 | 20 | c.*73 others(31): Show |
RHOH | ENSG00000168421.14 | transcript | ENST00000381799.10 | protein_coding | 4376 | chr4 | TogoVar | |||||||
RHOJ_chr14_63199443_63298508 | 63277966 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035 | 1 | 320 | 0.0031 | 20 | c.238 others(37): Show |
RHOJ | ENSG00000126785.13 | transcript | ENST00000316754.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RHOT1_chr17_32137502_32230727 | 32137747 | G | GTATATGT others(13): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 others(9): Show |
12 | 284 | 0.0423 | 20 | c.-49 others(31): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 4754 | chr17 | TogoVar | |||||||
RHOT1_chr17_32137502_32230727 | 32149625 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 284 | 0.0035 | 20 | c.37+ others(35): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHOT1_chr17_32137502_32230727 | 32149629 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0068 | 1 | 284 | 0.0035 | 20 | c.37+ others(35): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHOT1_chr17_32137502_32230727 | 32149631 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 284 | 0.0035 | 20 | c.37+ others(35): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHOT1_chr17_32137502_32230727 | 32149635 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 284 | 0.0035 | 20 | c.37+ others(35): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHOT1_chr17_32137502_32230727 | 32149635 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 284 | 0.0035 | 20 | c.37+ others(35): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHO_chr3_129523639_129540344 | 129530533 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02071.hp1 HG02559.hp2 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0045 a0001c0001t0003g0050 others(5): Show |
21 | 404 | 0.0520 | 20 | c.362 others(35): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RHO_chr3_129523639_129540344 | 129530533 | A | ACAACACA others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041 a0001c0001t0005g0078 |
3 | 404 | 0.0074 | 20 | c.362 others(35): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129538525 | C | CCCTCCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0023 others(4): Show |
17 | 404 | 0.0421 | 20 | c.*48 others(31): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 3182 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129538525 | C | CCCTCCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG01168.hp2 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0002g0042 a0001c0001t0005g0028 a0001c0001t0007g0006 others(6): Show |
15 | 404 | 0.0371 | 20 | c.*48 others(31): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 3182 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129538525 | C | CCCTCCCT others(13): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | 20 | c.*48 others(31): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 3182 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129538525 | C | CCCTCCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01257.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0006g0021 a0001c0001t0006g0030 |
3 | 404 | 0.0074 | 20 | c.*48 others(31): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 3182 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129538525 | C | CCCTTCCT others(13): Show |
downstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 404 | 0.0025 | 20 | c.*48 others(31): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 3182 | chr3 | TogoVar | |||||||
RHPN2_chr19_32973592_33069888 | 32983055 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01884.hp2 HG02896.hp2 |
a0001 | a0001c0002a0001c0007a0001c0014 | a0001c0002t0002a0001c0007t0005a0001c0014t0001 | a0001c0002t0002g0226 a0001c0007t0005g0023 a0001c0014t0001g0184 |
3 | 326 | 0.0092 | 20 | c.180 others(39): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 14/14 | chr19 | TogoVar | |||||||
RHPN2_chr19_32973592_33069888 | 32990137 | T | TAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0091 a0001c0001t0001g0200 a0001c0001t0003g0260 others(43): Show |
46 | 326 | 0.1411 | 20 | c.180 others(37): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 14/14 | chr19 | TogoVar | |||||||
RHPN2_chr19_32973592_33069888 | 33031210 | T | TTTCTATT others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18965.hp2 NA18970.hp1 others(1): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0031 | a0001c0001t0001a0001c0002t0002a0011c0031t0003 | a0001c0001t0001g0198 a0001c0002t0002g0195 a0001c0002t0002g0210 others(1): Show |
4 | 326 | 0.0123 | 20 | c.186 others(37): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 2/14 | chr19 | TogoVar | |||||||
RHPN2_chr19_32973592_33069888 | 33034025 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02622.hp1 NA19043.hp1 NA20300.hp2 |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0005c0011t0001 | a0001c0001t0001g0028 a0001c0001t0001g0035 a0005c0011t0001g0084 |
3 | 326 | 0.0092 | 20 | c.186 others(37): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 2/14 | chr19 | TogoVar | |||||||
RIBC1_chrX_53417873_53436115 | 53425515 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 276 | 0.0036 | 20 | c.1-7 others(31): Show |
RIBC1 | ENSG00000158423.17 | transcript | ENST00000375327.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RIC1_chr9_5624107_5781557 | 5673535 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0133 |
2 | 328 | 0.0061 | 20 | c.253 others(39): Show |
RIC1 | ENSG00000107036.12 | transcript | ENST00000414202.7 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RIC1_chr9_5624107_5781557 | 5722348 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0022 | a0003c0022t0007 | a0003c0022t0007g0200 | 1 | 328 | 0.0031 | 20 | c.720 others(37): Show |
RIC1 | ENSG00000107036.12 | transcript | ENST00000414202.7 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RIC3_chr11_8101056_8174025 | 8163018 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02738.hp1 NA20129.hp1 |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0045 | a0003c0004t0005g0330 a0003c0004t0045g0348 |
2 | 370 | 0.0054 | 20 | c.124 others(37): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8163050 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 370 | 0.0027 | 20 | c.124 others(37): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC8B_chr12_106769682_106894316 | 106770243 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(83): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0041 others(82): Show |
86 | 318 | 0.2704 | 20 | c.-45 others(31): Show |
RIC8B | ENSG00000111785.21 | transcript | ENST00000392837.9 | protein_coding | 4438 | chr12 | TogoVar | |||||||
RIC8B_chr12_106769682_106894316 | 106785785 | G | GTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG02056.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0061 others(7): Show |
10 | 318 | 0.0315 | 20 | c.132 others(37): Show |
RIC8B | ENSG00000111785.21 | transcript | ENST00000392837.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RIC8B_chr12_106769682_106894316 | 106868766 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 | 1 | 318 | 0.0031 | 20 | c.145 others(39): Show |
RIC8B | ENSG00000111785.21 | transcript | ENST00000392837.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RICTOR_chr5_38932920_39079399 | 39006695 | A | AGGGAGAG others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG02572.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0165 a0001c0001t0002g0019 a0001c0001t0002g0024 others(14): Show |
17 | 338 | 0.0503 | 20 | c.196 others(37): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 3/37 | chr5 | TogoVar | |||||||
RICTOR_chr5_38932920_39079399 | 39046028 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01192.hp2 NA18950.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004a0002c0002t0006others(2): Show | a0001c0001t0002g0066 a0002c0002t0004g0226 a0002c0002t0006g0284 others(4): Show |
7 | 338 | 0.0207 | 20 | c.98- others(37): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 2/37 | chr5 | TogoVar | |||||||
RICTOR_chr5_38932920_39079399 | 39075284 | T | TACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 HG02280.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0129 a0001c0001t0002g0041 a0001c0001t0010g0059 |
3 | 338 | 0.0089 | 20 | c.-90 others(29): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 886 | chr5 | TogoVar | |||||||
RIDA_chr8_98097344_98122171 | 98112195 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 458 | 0.0044 | 20 | c.66- others(35): Show |
RIDA | ENSG00000132541.11 | transcript | ENST00000254878.8 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
RIF1_chr2_151404902_151487172 | 151442048 | T | TTTTTATT others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00673.hp1 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0038others(5): Show | a0001c0003t0002a0001c0003t0011a0001c0004t0005others(12): Show | a0001c0003t0002g0105 a0001c0003t0002g0117 a0001c0003t0011g0116 others(53): Show |
56 | 380 | 0.1474 | 20 | c.173 others(35): Show |
RIF1 | ENSG00000080345.18 | transcript | ENST00000444746.7 | protein_coding | 16/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RIF1_chr2_151404902_151487172 | 151442048 | T | TTTTTGTT others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0021 | a0021c0029 | a0021c0029t0033 | a0021c0029t0033g0260 | 1 | 380 | 0.0026 | 20 | c.173 others(35): Show |
RIF1 | ENSG00000080345.18 | transcript | ENST00000444746.7 | protein_coding | 16/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RIGI_chr9_32450302_32531196 | 32504038 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00597.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0193 others(31): Show |
34 | 344 | 0.0988 | 20 | c.107 others(37): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | |||||||
RIGI_chr9_32450302_32531196 | 32508239 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01361.hp2 others(4): Show |
a0001a0002a0008 | a0001c0001a0002c0004a0008c0016 | a0001c0001t0001a0001c0001t0011a0001c0001t0016others(3): Show | a0001c0001t0001g0149 a0001c0001t0011g0157 a0001c0001t0011g0163 others(4): Show |
7 | 344 | 0.0204 | 20 | c.107 others(37): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | |||||||
RILPL1_chr12_123465054_123538719 | 123536825 | A | ATTTCTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG02735.hp2 NA18999.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0018 | a0001c0002t0002g0104 a0001c0002t0006g0135 a0001c0002t0018g0136 |
3 | 210 | 0.0143 | 20 | c.-33 others(31): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3107 | chr12 | TogoVar | |||||||
RILPL1_chr12_123465054_123538719 | 123536912 | C | CTCTTTCT others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01981.hp1 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0026 | a0001c0002t0002g0104 a0001c0002t0002g0109 a0001c0002t0026g0114 |
3 | 210 | 0.0143 | 20 | c.-34 others(31): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3194 | chr12 | TogoVar | |||||||
RILPL1_chr12_123465054_123538719 | 123536951 | T | TTTCTTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02735.hp2 NA19240.hp2 |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0001a0001c0002t0006a0005c0009t0002 | a0001c0002t0001g0143 a0001c0002t0006g0135 a0005c0009t0002g0188 |
3 | 210 | 0.0143 | 20 | c.-34 others(31): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3233 | chr12 | TogoVar | |||||||
RILPL1_chr12_123465054_123538719 | 123536996 | C | CCTCTCTC others(13): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0177 | 1 | 210 | 0.0048 | 20 | c.-35 others(31): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3278 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130421691 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02615.hp1 others(1): Show |
a0001a0002a0007 | a0001c0002a0001c0005a0002c0014others(1): Show | a0001c0002t0001a0001c0005t0001a0002c0014t0004others(1): Show | a0001c0002t0001g0162 a0001c0005t0001g0165 a0002c0014t0004g0144 others(1): Show |
4 | 180 | 0.0222 | 20 | c.323 others(37): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 17/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130583987 | G | GTCACCAC others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0067 | 1 | 180 | 0.0056 | 20 | c.-21 others(41): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130615272 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0048 | a0001c0048t0001 | a0001c0048t0001g0011 | 1 | 180 | 0.0056 | 20 | c.-21 others(41): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130615276 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG01255.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0106 others(12): Show |
15 | 180 | 0.0833 | 20 | c.-21 others(41): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130618024 | T | TTTACCAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(15): Show | a0001c0001t0001g0029 a0001c0001t0001g0098 a0001c0002t0001g0087 others(18): Show |
21 | 180 | 0.1167 | 20 | c.-21 others(41): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130692885 | G | GTAGGGTA others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03130.hp2 HG03486.hp1 |
a0001a0002a0016 | a0001c0020a0002c0026a0016c0051 | a0001c0020t0001a0002c0026t0001a0016c0051t0003 | a0001c0020t0001g0118 a0002c0026t0001g0117 a0016c0051t0003g0093 |
3 | 180 | 0.0167 | 20 | c.-35 others(41): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130702547 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01496.hp2 HG01981.hp1 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0001a0001c0004t0001 | a0001c0001t0002g0031 a0001c0002t0001g0021 a0001c0004t0001g0020 |
3 | 180 | 0.0167 | 20 | c.-35 others(41): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP3B_chr22_21378751_21394478 | 21381775 | A | AAAAATAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01358.hp1 others(9): Show |
a0002a0010a0053others(3): Show | a0002c0001a0010c0066a0053c0033others(3): Show | a0002c0001t0003a0010c0066t0003a0053c0033t0006others(3): Show | a0002c0001t0003g0000 a0010c0066t0003g0000 a0053c0033t0006g0000 others(3): Show |
12 | 118 | 0.1017 | 20 | c.-20 others(31): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 1975 | chr22 | TogoVar | |||||||
RIMBP3B_chr22_21378751_21394478 | 21381775 | A | ACAAATAA others(13): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0074 | a0074c0019 | a0074c0019t0005 | a0074c0019t0005g0000 | 1 | 118 | 0.0085 | 20 | c.-20 others(31): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 1975 | chr22 | TogoVar | |||||||
RIMBP3B_chr22_21378751_21394478 | 21382945 | C | CTGTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG02004.hp2 HG02257.hp2 others(7): Show |
a0004a0008a0009others(7): Show | a0004c0004a0008c0007a0009c0068others(7): Show | a0004c0004t0003a0008c0007t0001a0009c0068t0005others(7): Show | a0004c0004t0003g0000 a0008c0007t0001g0000 a0009c0068t0005g0000 others(7): Show |
10 | 118 | 0.0848 | 20 | c.-91 others(29): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 805 | chr22 | TogoVar | |||||||
RIMBP3B_chr22_21378751_21394478 | 21393621 | G | GTGTGTGT others(13): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0025 | a0025c0084 | a0025c0084t0001 | a0025c0084t0001g0000 | 1 | 118 | 0.0085 | 20 | c.*48 others(31): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 4144 | chr22 | TogoVar |