| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PYM1_chr12_55896413_55932894 | 55920661 | AAAAAGAA others(33): Show |
A | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 | 1 | 344 | 0.0029 | -40 | c.37+ others(55): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
| QNG1_chr9_83933311_83961742 | 83948275 | AGCAGCCG others(33): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG02040.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0028 | a0001c0001t0004g0005a0001c0001t0004g0033a0001c0001t0004g0106others(6): Show | 16 | 394 | 0.0406 | -40 | c.598 others(57): Show |
QNG1 | ENSG00000165118.15 | transcript | ENST00000376344.8 | protein_coding | 2/3 | chr9 | TogoVar | ||||||
| QNG1_chr9_83933311_83961742 | 83948306 | CCTCCGCC others(33): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG00741.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0004a0001c0001t0003g0007a0001c0001t0003g0013others(22): Show | 48 | 394 | 0.1218 | -40 | c.598 others(57): Show |
QNG1 | ENSG00000165118.15 | transcript | ENST00000376344.8 | protein_coding | 2/3 | chr9 | TogoVar | ||||||
| RAB11FIP1_chr8_37853618_37904497 | 37895237 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 NA18906.hp1 |
a0001a0002a0037 | a0001c0023a0002c0021a0037c0020 | a0001c0023t0001a0002c0021t0001a0037c0020t0001 | a0001c0023t0001g0005a0002c0021t0001g0002a0037c0020t0001g0004 | 3 | 264 | 0.0114 | -40 | c.371 others(57): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 503976 | CACCTCCT others(33): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0066 | 1 | 295 | 0.0034 | -40 | c.139 others(57): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB19_chr7_140399058_140432974 | 140431391 | CGGCCGCC others(33): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0113 | 1 | 442 | 0.0023 | -40 | c.*52 others(51): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 3418 | chr7 | TogoVar | ||||||
| RAB19_chr7_140399058_140432974 | 140431625 | GCCGCCCC others(33): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0009 | a0001c0009t0038 | a0001c0009t0038g0304 | 1 | 442 | 0.0023 | -40 | c.*54 others(51): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 3652 | chr7 | TogoVar | ||||||
| RAB22A_chr20_58304715_58372507 | 58309453 | GCAGGGGC others(33): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG01069.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0281a0001c0001t0001g0306a0001c0001t0001g0307others(23): Show | 26 | 394 | 0.0660 | -40 | c.-52 others(49): Show |
RAB22A | ENSG00000124209.4 | transcript | ENST00000244040.4 | protein_coding | 261 | chr20 | TogoVar | ||||||
| RAB3D_chr19_11317068_11344657 | 11341142 | AAAAAAAA others(33): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0028 | 1 | 414 | 0.0024 | -40 | c.-17 others(51): Show |
RAB3D | ENSG00000105514.8 | transcript | ENST00000222120.8 | protein_coding | 1486 | chr19 | TogoVar | ||||||
| RAB3IP_chr12_69733860_69828199 | 69759940 | TGGCCGGG others(33): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0082a0001c0001t0182 | a0001c0001t0082g0239a0001c0001t0182g0240 | 2 | 402 | 0.0050 | -40 | c.510 others(57): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RAB40B_chr17_82649973_82703698 | 82664064 | GTGGTGGG others(33): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 338 | 0.0030 | -40 | c.203 others(55): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
| RAB40B_chr17_82649973_82703698 | 82664086 | CGGGGTGC others(33): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 338 | 0.0030 | -40 | c.203 others(55): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
| RAB5IF_chr20_36600779_36617557 | 36609179 | ACACACAC others(33): Show |
A | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 398 | 0.0025 | -40 | c.219 others(55): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RAB6B_chr3_133819235_133900882 | 133889388 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG04199.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0072 | a0001c0001t0002g0106a0001c0001t0072g0107 | 2 | 386 | 0.0052 | -40 | c.70+ others(55): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
| RAB7B_chr1_205971740_206008395 | 205972270 | CAAACAAT others(33): Show |
C | downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 330 | 0.0030 | -40 | c.*65 others(51): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4469 | chr1 | TogoVar | ||||||
| RAB8B_chr15_63184606_63272776 | 63247836 | ATGAAGCT others(33): Show |
A | intron_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 372 | 0.0027 | -40 | c.186 others(57): Show |
RAB8B | ENSG00000166128.13 | transcript | ENST00000321437.9 | protein_coding | 2/7 | chr15 | TogoVar | ||||||
| RABEP1_chr17_5277284_5391340 | 5323741 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01123.hp1 HG01496.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0001t0043a0001c0001t0045others(3): Show | a0001c0001t0020g0182a0001c0001t0020g0183a0001c0001t0043g0181others(13): Show | 17 | 352 | 0.0483 | -40 | c.164 others(57): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174350378 | GCGGCCGG others(33): Show |
G | intron_variant | MODIFIER | NA18981.hp2 NA18983.hp2 NA19064.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(1): Show | 4 | 272 | 0.0147 | -40 | c.146 others(61): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174572985 | TCAGATCC others(33): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0154a0001c0001t0014g0155a0001c0001t0014g0156 | 3 | 272 | 0.0110 | -40 | c.171 others(61): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | chr1 | TogoVar | ||||||
| RAD50_chr5_132551977_132651349 | 132634805 | AAAAATTA others(33): Show |
A | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0035 | 1 | 276 | 0.0036 | -40 | c.339 others(59): Show |
RAD50 | ENSG00000113522.14 | transcript | ENST00000378823.8 | protein_coding | 21/24 | chr5 | TogoVar | ||||||
| RALGAPA2_chr20_20384530_20717644 | 20567857 | TAATAAAA others(33): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02630.hp1 others(3): Show |
a0001a0006 | a0001c0003a0006c0012 | a0001c0003t0002a0001c0003t0017a0006c0012t0001 | a0001c0003t0002g0076a0001c0003t0002g0077a0001c0003t0002g0078others(3): Show | 6 | 122 | 0.0492 | -40 | c.315 others(59): Show |
RALGAPA2 | ENSG00000188559.16 | transcript | ENST00000202677.12 | protein_coding | 23/39 | chr20 | TogoVar | ||||||
| RANBP3_chr19_5911139_5983140 | 5961171 | CGGTGGCT others(33): Show |
C | intron_variant | MODIFIER | HG03927.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0141 | 2 | 322 | 0.0062 | -40 | c.23- others(55): Show |
RANBP3 | ENSG00000031823.14 | transcript | ENST00000340578.10 | protein_coding | 1/16 | chr19 | TogoVar | ||||||
| RAPGEF1_chr9_131571775_131745076 | 131586447 | CACACACA others(33): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03942.hp1 NA19079.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0196a0001c0001t0002g0197a0001c0001t0002g0231others(1): Show | 4 | 368 | 0.0109 | -40 | c.323 others(59): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | ||||||
| RAPGEF2_chr4_159098079_159365173 | 159198271 | CTTCTTTC others(33): Show |
C | intron_variant | MODIFIER | HG02970.hp1 NA19043.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0021 | a0001c0001t0005g0092a0001c0001t0005g0093a0001c0001t0021g0028 | 3 | 194 | 0.0155 | -40 | c.197 others(57): Show |
RAPGEF2 | ENSG00000109756.10 | transcript | ENST00000691494.1 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RARS2_chr6_87508938_87594987 | 87584965 | TCCTTAAG others(33): Show |
T | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0176 | 1 | 382 | 0.0026 | -40 | c.36+ others(55): Show |
RARS2 | ENSG00000146282.19 | transcript | ENST00000369536.10 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
| RASA2_chr3_141482027_141620344 | 141610427 | ATATATTT others(33): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG01891.hp2 others(21): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0005 | a0002c0004t0001g0040a0002c0004t0001g0041a0002c0004t0001g0044others(21): Show | 24 | 280 | 0.0857 | -40 | c.251 others(57): Show |
RASA2 | ENSG00000155903.14 | transcript | ENST00000286364.9 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 113980428 | CGTGTGTG others(33): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02738.hp1 HG03209.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0003a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0014others(5): Show | 8 | 67 | 0.1194 | -40 | c.243 others(59): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 23/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 113999059 | GACATGTG others(33): Show |
G | intron_variant | MODIFIER | HG01993.hp1 HG01993.hp2 HG02257.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0003t0003others(2): Show | a0001c0001t0001g0017a0001c0001t0004g0066a0001c0003t0003g0020others(6): Show | 9 | 67 | 0.1343 | -40 | c.193 others(57): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 20/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 113999105 | TGGGCCCG others(33): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011a0001c0001t0006g0012 | 2 | 67 | 0.0299 | -40 | c.193 others(57): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 20/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114120297 | TCCAGCCA others(33): Show |
T | intron_variant | MODIFIER | HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0039 | 2 | 67 | 0.0299 | -40 | c.55+ others(57): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASGEF1A_chr10_43189535_43272065 | 43225285 | TTCTGTGT others(33): Show |
T | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0197 | 1 | 350 | 0.0029 | -40 | c.-6- others(57): Show |
RASGEF1A | ENSG00000198915.12 | transcript | ENST00000395810.6 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
| RASGEF1C_chr5_180095795_180214211 | 180109886 | GTCTCCAG others(33): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0003 | a0001c0003t0077 | a0001c0003t0077g0225 | 1 | 370 | 0.0027 | -40 | c.130 others(59): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 12/13 | chr5 | TogoVar | ||||||
| RASGRP1_chr15_38483103_38569814 | 38542822 | TACATATA others(33): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01884.hp2 HG01952.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0122a0001c0001t0001g0127a0001c0001t0001g0128others(27): Show | 31 | 350 | 0.0886 | -40 | c.221 others(59): Show |
RASGRP1 | ENSG00000172575.14 | transcript | ENST00000310803.10 | protein_coding | 2/16 | chr15 | TogoVar | ||||||
| RB1CC1_chr8_52617458_52719435 | 52698669 | GGTTTTTT others(33): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG02615.hp2 HG02622.hp2 others(2): Show |
a0002 | a0002c0005 | a0002c0005t0003a0002c0005t0015 | a0002c0005t0003g0299a0002c0005t0003g0300a0002c0005t0003g0301others(2): Show | 5 | 306 | 0.0163 | -40 | c.-16 others(61): Show |
RB1CC1 | ENSG00000023287.13 | transcript | ENST00000025008.10 | protein_coding | 1/23 | chr8 | TogoVar | ||||||
| RBBP5_chr1_205081142_205126978 | 205093499 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 390 | 0.0026 | -40 | c.158 others(59): Show |
RBBP5 | ENSG00000117222.14 | transcript | ENST00000264515.11 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
| RBBP8_chr18_22928328_23031486 | 22929483 | TGTGTGTG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02896.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182a0001c0002t0001g0183a0001c0002t0001g0184 | 3 | 330 | 0.0091 | -40 | c.-41 others(51): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 3844 | chr18 | TogoVar | ||||||
| RBBP9_chr20_18481540_18502225 | 18486133 | TATAAAAA others(33): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp1 HG03195.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0055a0001c0001t0016g0109 | 3 | 454 | 0.0066 | -40 | c.*35 others(51): Show |
RBBP9 | ENSG00000089050.16 | transcript | ENST00000337227.9 | protein_coding | 406 | chr20 | TogoVar | ||||||
| RBFOX1_chr16_6014024_7718340 | 6350444 | GAAAAAAA others(33): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02622.hp2 NA20300.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0025a0001c0001t0037a0003c0005t0003 | a0001c0001t0025g0048a0001c0001t0037g0029a0003c0005t0003g0043 | 3 | 68 | 0.0441 | -40 | c.-64 others(59): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 6657076 | CCCTTTCC others(33): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01261.hp1 HG03490.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0003 | a0001c0001t0001g0063a0001c0001t0002g0015a0003c0005t0003g0043 | 3 | 68 | 0.0441 | -40 | c.-16 others(57): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 6779861 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG02622.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026 | a0001c0001t0004g0033a0001c0001t0026g0051 | 2 | 68 | 0.0294 | -40 | c.-16 others(61): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 7008808 | TCCTCCCT others(33): Show |
T | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0056 | 1 | 68 | 0.0147 | -40 | c.-15 others(59): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 7008876 | TCCTCCCT others(33): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0002g0016 | 2 | 68 | 0.0294 | -40 | c.-15 others(59): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 7008884 | CCCTTCCT others(33): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0063a0001c0001t0002g0004a0001c0001t0002g0017others(3): Show | 6 | 68 | 0.0882 | -40 | c.-15 others(59): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 7009094 | CTCCCTCC others(33): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG03490.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0031 | a0001c0001t0002g0017a0001c0001t0003g0010a0001c0001t0031g0056 | 3 | 68 | 0.0441 | -40 | c.-15 others(59): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 7504747 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 68 | 0.0147 | -40 | c.28- others(57): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_7327845_7718340 | 7504747 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02738.hp2 HG03239.hp2 NA18951.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0002t0002 | a0001c0001t0001g0100a0001c0001t0001g0117a0001c0001t0001g0160others(3): Show | 6 | 234 | 0.0256 | -40 | c.88- others(57): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX3_chr17_79084345_79616051 | 79442214 | GGAGAGAG others(33): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0020others(10): Show | 13 | 154 | 0.0844 | -40 | c.-17 others(61): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
| RBFOX3_chr17_79084345_79616051 | 79491053 | AGAGGGGA others(33): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0042a0001c0001t0001g0052a0001c0001t0001g0057others(26): Show | 29 | 154 | 0.1883 | -40 | c.-31 others(59): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
| RBL1_chr20_36991349_37100997 | 36997193 | GAAAGCAT others(33): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0204 | 1 | 354 | 0.0028 | -40 | c.*15 others(51): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 22/22 | 1526 | chr20 | TogoVar | |||||
| RBL1_chr20_36991349_37100997 | 37069380 | CCTAGGAA others(33): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0063 | 1 | 354 | 0.0028 | -40 | c.291 others(57): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 2/21 | chr20 | TogoVar |