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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RECK_chr9_36031913_36129455 | 36104314 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG01943.hp2 HG02698.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0096 a0001c0001t0001g0100 others(34): Show |
37 | 385 | 0.0961 | -27 | c.143 others(44): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RELL1_chr4_37605634_37691376 | 37653344 | CTCAATAC others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(192): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0017 others(190): Show |
195 | 321 | 0.6075 | -27 | c.89- others(42): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8515385 | TGGTGGCT others(20): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG03516.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152 a0001c0002t0002g0162 a0001c0002t0002g0179 |
3 | 202 | 0.0149 | -27 | c.831 others(44): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RETREG1_chr5_16468053_16621997 | 16621501 | AGGAGAGG others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0283 | 1 | 292 | 0.0034 | -27 | c.-45 others(38): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 4505 | chr5 | TogoVar | |||||||
RET_chr10_43072069_43135351 | 43088276 | GTGATGGT others(20): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0261 others(1): Show |
6 | 380 | 0.0158 | -27 | c.73+ others(44): Show |
RET | ENSG00000165731.21 | transcript | ENST00000355710.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111303674 | TTTTTTTT others(20): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 286 | 0.0035 | -27 | c.925 others(46): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111338312 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(16): Show |
a0003a0015 | a0003c0005a0003c0008a0015c0021 | a0003c0005t0004a0003c0008t0004a0015c0021t0001 | a0003c0005t0004g0266 a0003c0005t0004g0267 a0003c0005t0004g0268 others(15): Show |
19 | 44 | 0.4318 | -27 | c.753 others(46): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 21/31 | chr6 | TogoVar | |||||||
REXO1_chr19_1810248_1853483 | 1832587 | GGCACGGT others(20): Show |
G | intron_variant | MODIFIER | HG02071.hp1 HG02083.hp2 HG02129.hp2 others(3): Show |
a0001a0006a0012 | a0001c0001a0001c0040a0006c0006others(1): Show | a0001c0001t0001a0001c0040t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0040t0001g0204 others(3): Show |
6 | 376 | 0.0160 | -27 | c.158 others(44): Show |
REXO1 | ENSG00000079313.15 | transcript | ENST00000170168.9 | protein_coding | 1/15 | chr19 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124302813 | GGGGCCGA others(20): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0011 | 1 | 293 | 0.0034 | -27 | c.207 others(44): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFX3_chr9_3213297_3531001 | 3504879 | TTATATAT others(20): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01981.hp1 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0004 a0001c0001t0004g0008 a0001c0001t0004g0010 others(10): Show |
13 | 133 | 0.0977 | -27 | c.-9+ others(44): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RGL3_chr19_11389060_11424314 | 11405494 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG01258.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0240 |
2 | 29 | 0.0690 | -27 | c.997 others(40): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 7/18 | chr19 | TogoVar | |||||||
RGPD1_chr2_86937118_87018976 | 86998511 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(7): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0058 a0001c0001t0002g0089 a0001c0001t0002g0092 others(7): Show |
10 | 15 | 0.6667 | -27 | c.523 others(44): Show |
RGPD1 | ENSG00000187627.18 | transcript | ENST00000641458.2 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RGPD5_chr2_109789305_109862705 | 109859265 | GGGCGCGA others(20): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
a0001a0002a0003others(12): Show | a0001c0009a0002c0002a0003c0003others(12): Show | a0001c0009t0003a0002c0002t0003a0002c0002t0017others(17): Show | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(24): Show |
27 | 40 | 0.6750 | -27 | c.*33 others(38): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1561 | chr2 | TogoVar | |||||||
RGPD8_chr2_112363369_112438645 | 112366773 | TGCCGGGA others(20): Show |
T | downstream_gene_variant | MODIFIER | NA18945.hp2 NA18956.hp2 |
a0032a0033 | a0032c0044a0033c0045 | a0032c0044t0025a0033c0045t0026 | a0032c0044t0025g0194 a0033c0045t0026g0051 |
2 | 254 | 0.0079 | -27 | c.*33 others(38): Show |
RGPD8 | ENSG00000169629.12 | transcript | ENST00000302558.8 | protein_coding | 1595 | chr2 | TogoVar | |||||||
RGS10_chr10_119494817_119547719 | 119538640 | GCTTAGCA others(20): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0101 a0001c0001t0003g0320 |
2 | 392 | 0.0051 | -27 | c.49+ others(42): Show |
RGS10 | ENSG00000148908.15 | transcript | ENST00000369103.3 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 241130744 | GAGCATTG others(20): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0052 others(16): Show |
19 | 112 | 0.1696 | -27 | c.79- others(44): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RHBDL1_chr16_670671_683268 | 679918 | GGATGGGG others(20): Show |
G | downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | -27 | c.*18 others(38): Show |
RHBDL1 | ENSG00000103269.14 | transcript | ENST00000352681.8 | protein_coding | 1651 | chr16 | TogoVar | |||||||
RHCE_chr1_25357249_25425825 | 25379477 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0218 | 1 | 324 | 0.0031 | -27 | c.107 others(46): Show |
RHCE | ENSG00000188672.19 | transcript | ENST00000294413.13 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
RHCE_chr1_25357249_25425825 | 25379479 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02683.hp1 NA18941.hp2 others(2): Show |
a0002a0014 | a0002c0002a0014c0013 | a0002c0002t0001a0014c0013t0001 | a0002c0002t0001g0013 a0002c0002t0001g0217 a0002c0002t0001g0239 others(2): Show |
5 | 307 | 0.0163 | -27 | c.107 others(46): Show |
RHCE | ENSG00000188672.19 | transcript | ENST00000294413.13 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706437 | ACACACAC others(20): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0020 |
2 | 426 | 0.0047 | -27 | c.-77 others(42): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RHOT1_chr17_32137502_32230727 | 32142451 | CCCGCCGC others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02922.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0192 a0001c0001t0001g0242 a0001c0002t0001g0136 others(2): Show |
5 | 35 | 0.1429 | -27 | c.-24 others(36): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 50 | chr17 | TogoVar | |||||||
RIGI_chr9_32450302_32531196 | 32504718 | TATAAAAT others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(113): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0025 others(111): Show |
116 | 301 | 0.3854 | -27 | c.107 others(44): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | |||||||
RIMS1_chr6_71881550_72408145 | 72038111 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0041 | 1 | 136 | 0.0074 | -27 | c.246 others(46): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72138983 | GCTATATT others(20): Show |
G | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0038 | 1 | 138 | 0.0072 | -27 | c.471 others(46): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 4/33 | chr6 | TogoVar | |||||||
RIMS1_chr6_71881550_72408145 | 72152724 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 138 | 0.0072 | -27 | c.472 others(46): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72152811 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG01981.hp1 HG02004.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(5): Show |
8 | 138 | 0.0580 | -27 | c.472 others(46): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72181051 | AGGGCATA others(20): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0097 | 1 | 138 | 0.0072 | -27 | c.812 others(44): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19835070 | AGAAAGAG others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01361.hp1 HG02683.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0007a0002c0003t0004 | a0001c0001t0004g0147 a0001c0001t0007g0025 a0002c0003t0004g0055 |
3 | 274 | 0.0109 | -27 | c.-37 others(46): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19844590 | GCTGCTTC others(20): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0273 | 1 | 251 | 0.0040 | -27 | c.-37 others(46): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19844692 | CTCTTCCT others(20): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0233 | 1 | 158 | 0.0063 | -27 | c.-36 others(46): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIPOR3_chr20_50581108_50696542 | 50609959 | ACTGCCTC others(20): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0012 | a0012c0024 | a0012c0024t0001 | a0012c0024t0001g0236 | 1 | 96 | 0.0104 | -27 | c.427 others(42): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 6/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50610055 | TCCCCTGC others(20): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0004a0001c0010t0001others(1): Show | a0001c0001t0002g0084 a0001c0001t0002g0218 a0001c0001t0004g0217 others(3): Show |
6 | 263 | 0.0228 | -27 | c.427 others(42): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 6/21 | chr20 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50610156 | CCCTGCCA others(20): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0088 | 1 | 278 | 0.0036 | -27 | c.427 others(42): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 6/21 | chr20 | TogoVar | |||||||
RMND5A_chr2_86715291_86783041 | 86762682 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(170): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(142): Show |
173 | 201 | 0.8607 | -27 | c.522 others(44): Show |
RMND5A | ENSG00000153561.13 | transcript | ENST00000283632.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RNASE4_chr14_20679560_20706216 | 20705703 | TAGTATAT others(20): Show |
T | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0122 | 1 | 468 | 0.0021 | -27 | c.*58 others(38): Show |
RNASE4 | ENSG00000258818.4 | transcript | ENST00000555835.3 | protein_coding | 4488 | chr14 | TogoVar | |||||||
RNASE9_chr14_20551093_20566047 | 20558131 | GAAGAACC others(20): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp2 HG02723.hp2 others(8): Show |
a0003a0005a0008others(1): Show | a0003c0003a0003c0004a0005c0006others(2): Show | a0003c0003t0002a0003c0004t0002a0005c0006t0002others(3): Show | a0003c0003t0002g0010 a0003c0004t0002g0096 a0005c0006t0002g0094 others(3): Show |
11 | 476 | 0.0231 | -27 | c.-17 others(44): Show |
RNASE9 | ENSG00000188655.11 | transcript | ENST00000554964.6 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
RNASET2_chr6_166917113_166961550 | 166955268 | CACGCGCA others(20): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0164 | a0001c0001t0164g0244 | 1 | 344 | 0.0029 | -27 | c.86+ others(40): Show |
RNASET2 | ENSG00000026297.17 | transcript | ENST00000508775.6 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
RNF10_chr12_120529356_120582588 | 120553038 | GTTTTTTT others(20): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 61 | 0.0164 | -27 | c.554 others(42): Show |
RNF10 | ENSG00000022840.17 | transcript | ENST00000325954.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RNF139_chr8_124469880_124493618 | 124471522 | TACAGTTT others(20): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02258.hp2 HG06807.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0009a0001c0003t0001 | a0001c0002t0001g0128 a0001c0002t0009g0083 a0001c0003t0001g0090 |
3 | 406 | 0.0074 | -27 | c.-35 others(38): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 3357 | chr8 | TogoVar | |||||||
RNF144A_chr2_6912412_7049179 | 7032190 | ACGCCCCT others(20): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0003g0045 |
3 | 222 | 0.0135 | -27 | c.747 others(44): Show |
RNF144A | ENSG00000151692.15 | transcript | ENST00000320892.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RNF148_chr7_122696668_122707922 | 122706315 | TATATATA others(20): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 429 | 0.0023 | -27 | c.-35 others(38): Show |
RNF148 | ENSG00000235631.2 | transcript | ENST00000434824.2 | protein_coding | 3394 | chr7 | TogoVar | |||||||
RNF150_chr4_140854807_141138469 | 141000060 | AAGAAGAA others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp2 HG01261.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0076 a0001c0001t0004g0075 a0001c0001t0005g0015 others(8): Show |
11 | 169 | 0.0651 | -27 | c.485 others(46): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RNF183_chr9_113292093_113308376 | 113308167 | AAAAAAAG others(20): Show |
A | upstream_gene_variant | MODIFIER | NA19084.hp2 NA19089.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0015 | 2 | 359 | 0.0056 | -27 | c.-55 others(38): Show |
RNF183 | ENSG00000165188.14 | transcript | ENST00000489339.2 | protein_coding | 4792 | chr9 | TogoVar | |||||||
RNF187_chr1_228482382_228501188 | 228487404 | TGGTCTCC others(20): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02698.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0002 a0001c0001t0012g0024 |
2 | 420 | 0.0048 | -27 | c.-76 others(34): Show |
RNF187 | ENSG00000168159.15 | transcript | ENST00000305943.9 | protein_coding | 1/4 | 50 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RNF213_chr17_80255852_80403794 | 80260507 | CGCGGGGC others(20): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0082 | a0001c0082t0005 | a0001c0082t0005g0227 | 1 | 287 | 0.0035 | -27 | c.-50 others(36): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 344 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80260664 | GCGGCGGC others(20): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01517.hp2 |
a0002a0045 | a0002c0002a0045c0063 | a0002c0002t0002a0045c0063t0016 | a0002c0002t0002g0228 a0045c0063t0016g0234 |
2 | 290 | 0.0069 | -27 | c.-34 others(36): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 187 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80313896 | ATGGTGGT others(20): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01928.hp1 |
a0012 | a0012c0012 | a0012c0012t0040a0012c0012t0042 | a0012c0012t0040g0224 a0012c0012t0042g0221 |
2 | 290 | 0.0069 | -27 | c.281 others(44): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314094 | GAGGTACT others(20): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0102 | a0102c0127 | a0102c0127t0009 | a0102c0127t0009g0062 | 1 | 290 | 0.0034 | -27 | c.281 others(44): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314244 | GTACTGGA others(20): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG03490.hp1 HG03492.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0027others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(5): Show | a0001c0001t0001g0131 a0002c0002t0002g0127 a0002c0002t0002g0143 others(8): Show |
11 | 288 | 0.0382 | -27 | c.281 others(46): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314461 | TGGTGATG others(20): Show |
T | intron_variant | MODIFIER | HG01952.hp2 | a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0058 | 1 | 289 | 0.0035 | -27 | c.281 others(46): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |