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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBPMS_chr8_30379541_30577256 | 30519456 | CTCTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02970.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0221a0001c0001t0002g0064a0001c0001t0002g0065others(1): Show | 4 | 304 | 0.0132 | -17 | c.397 others(36): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBSN_chr3_15065073_15104148 | 15078776 | ATACATAT others(10): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02257.hp2 HG02683.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0007 | a0001c0001t0002g0188a0001c0001t0002g0202a0001c0001t0002g0222others(1): Show | 4 | 360 | 0.0111 | -17 | c.912 others(32): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 10/13 | chr3 | TogoVar | ||||||
RC3H1_chr1_173926084_174027357 | 173929609 | AGTAAATA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 310 | 0.0032 | -17 | c.*90 others(28): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1474 | chr1 | TogoVar | ||||||
RC3H1_chr1_173926084_174027357 | 173936747 | ATATATAT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0057a0001c0001t0058 | a0001c0001t0024g0003a0001c0001t0024g0305a0001c0001t0057g0068others(1): Show | 5 | 310 | 0.0161 | -17 | c.*19 others(28): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 20/20 | 1957 | chr1 | TogoVar | |||||
RCBTB1_chr13_49526946_49590558 | 49566257 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | NA18979.hp2 NA18994.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0196a0002c0002t0002g0203 | 2 | 418 | 0.0048 | -17 | c.277 others(32): Show |
RCBTB1 | ENSG00000136144.12 | transcript | ENST00000378302.7 | protein_coding | 4/12 | chr13 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28509371 | AGCTGCGA others(10): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0276 | 1 | 294 | 0.0034 | -17 | c.-15 others(34): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RCC1_chr1_28501043_28543989 | 28533845 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG02165.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0095a0001c0001t0001g0103 | 3 | 294 | 0.0102 | -17 | c.442 others(34): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RCHY1_chr4_75474033_75519403 | 75519290 | ATAAATTG others(10): Show |
A | upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 406 | 0.0025 | -17 | c.-50 others(28): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 4888 | chr4 | TogoVar | ||||||
RCN2_chr15_76926749_76959393 | 76953574 | TATATATA others(10): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02602.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0090a0001c0001t0185 | a0001c0001t0090g0078a0001c0001t0185g0163 | 2 | 422 | 0.0047 | -17 | c.*43 others(28): Show |
RCN2 | ENSG00000117906.14 | transcript | ENST00000394885.8 | protein_coding | 7/7 | 4353 | chr15 | TogoVar | |||||
RCN2_chr15_76926749_76959393 | 76953576 | TATATATA others(10): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0179 | a0001c0001t0179g0058 | 1 | 422 | 0.0024 | -17 | c.*43 others(28): Show |
RCN2 | ENSG00000117906.14 | transcript | ENST00000394885.8 | protein_coding | 7/7 | 4355 | chr15 | TogoVar | |||||
RCN2_chr15_76926749_76959393 | 76953577 | ATATATAT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18975.hp1 NA19011.hp2 NA19030.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0144a0001c0001t0240 | a0001c0001t0021g0008a0001c0001t0021g0028a0001c0001t0144g0008others(1): Show | 5 | 422 | 0.0119 | -17 | c.*43 others(28): Show |
RCN2 | ENSG00000117906.14 | transcript | ENST00000394885.8 | protein_coding | 7/7 | 4357 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
RCOR1_chr14_102587649_102735561 | 102653966 | TCTTTCTT others(10): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01993.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0242a0001c0001t0004g0185a0001c0001t0007g0220others(1): Show | 4 | 292 | 0.0137 | -17 | c.362 others(36): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | chr14 | TogoVar | ||||||
RDH10_chr8_73289602_73330281 | 73325951 | GGGTGTGT others(10): Show |
G | downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0210 | 1 | 396 | 0.0025 | -17 | c.*29 others(28): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 671 | chr8 | TogoVar | ||||||
REEP3_chr10_63516401_63630128 | 63556617 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00673.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0001t0001g0158others(17): Show | 20 | 284 | 0.0704 | -17 | c.33- others(32): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RELN_chr7_103466789_103994658 | 103496170 | GGTAACCT others(10): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01070.hp1 others(39): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0005a0001c0006others(17): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(24): Show | a0001c0003t0001g0076a0001c0003t0001g0093a0001c0003t0001g0105others(39): Show | 42 | 184 | 0.2283 | -17 | c.919 others(34): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 56/64 | chr7 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103502304 | TGCGTAAG others(10): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0010 | a0002c0010t0009 | a0002c0010t0009g0184 | 1 | 184 | 0.0054 | -17 | c.848 others(34): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 52/64 | chr7 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103544220 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG02273.hp1 HG02523.hp2 others(12): Show |
a0001a0002a0022 | a0001c0005a0001c0006a0001c0048others(5): Show | a0001c0005t0007a0001c0006t0001a0001c0006t0002others(7): Show | a0001c0005t0007g0118a0001c0006t0001g0047a0001c0006t0001g0087others(12): Show | 15 | 184 | 0.0815 | -17 | c.652 others(34): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 42/64 | chr7 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103926627 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG03453.hp2 NA19009.hp1 NA19076.hp2 others(1): Show |
a0001a0023a0032others(1): Show | a0001c0005a0023c0050a0032c0058others(1): Show | a0001c0005t0002a0023c0050t0001a0032c0058t0001others(1): Show | a0001c0005t0002g0032a0023c0050t0001g0104a0032c0058t0001g0042others(1): Show | 4 | 184 | 0.0217 | -17 | c.227 others(34): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103930887 | TGTGTGTG others(10): Show |
T | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0158 | 1 | 184 | 0.0054 | -17 | c.227 others(36): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 16951543 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02027.hp1 HG02129.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0154a0001c0001t0001g0155others(5): Show | 8 | 166 | 0.0482 | -17 | c.273 others(34): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RERE_chr1_8347404_8822640 | 8386014 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0107 | 1 | 204 | 0.0049 | -17 | c.128 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8496502 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0014 | 1 | 204 | 0.0049 | -17 | c.100 others(34): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 9/22 | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8512014 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0019 | a0001c0019t0014 | a0001c0019t0014g0119 | 1 | 204 | 0.0049 | -17 | c.831 others(34): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8678585 | TGGGAGGC others(10): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0090 | 1 | 204 | 0.0049 | -17 | c.-14 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
RETREG1_chr5_16468053_16621997 | 16489082 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02145.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0010a0001c0004t0009others(1): Show | a0001c0001t0001g0167a0001c0001t0010g0003a0001c0001t0010g0154others(4): Show | 7 | 294 | 0.0238 | -17 | c.459 others(34): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
RETREG3_chr17_42574515_42614374 | 42596359 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(88): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0091a0001c0001t0002g0002a0001c0001t0002g0012others(73): Show | 91 | 360 | 0.2528 | -17 | c.240 others(34): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
RETREG3_chr17_42574515_42614374 | 42597605 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 360 | 0.0028 | -17 | c.240 others(34): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
RETREG3_chr17_42574515_42614374 | 42597607 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01192.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0028 | 2 | 360 | 0.0056 | -17 | c.240 others(34): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111303684 | TTTTTAAC others(10): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG02896.hp1 NA18957.hp1 |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0001a0008c0011t0001 | a0002c0002t0001g0212a0002c0002t0001g0221a0008c0011t0001g0208 | 3 | 288 | 0.0104 | -17 | c.925 others(36): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20815679 | ATGAGAAA others(10): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 372 | 0.0027 | -17 | c.379 others(32): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
REXO5_chr16_20801527_20854665 | 20820534 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02015.hp2 HG02132.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0064others(9): Show | 19 | 372 | 0.0511 | -17 | c.476 others(34): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
REXO5_chr16_20801527_20854665 | 20820536 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0289 | 2 | 372 | 0.0054 | -17 | c.476 others(34): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
REXO5_chr16_20801527_20854665 | 20820542 | ATATTTTT others(10): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 372 | 0.0027 | -17 | c.476 others(34): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RFC1_chr4_39282456_39371362 | 39284978 | GCTCAGGG others(10): Show |
G | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0264 | 1 | 276 | 0.0036 | -17 | c.*37 others(28): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2477 | chr4 | TogoVar | ||||||
RFPL4B_chr6_112342330_112356294 | 112352088 | ATAGCCAA others(10): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 458 | 0.0022 | -17 | c.*15 others(28): Show |
RFPL4B | ENSG00000251258.2 | transcript | ENST00000441065.3 | protein_coding | 795 | chr6 | TogoVar | ||||||
RFTN1_chr3_16310845_16518699 | 16391865 | TTTTGTTT others(10): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00609.hp1 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0022a0001c0001t0001g0029others(54): Show | 57 | 268 | 0.2127 | -17 | c.442 others(36): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
RFTN1_chr3_16310845_16518699 | 16438585 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0180 | 1 | 268 | 0.0037 | -17 | c.146 others(34): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
RFX3_chr9_3213297_3531001 | 3265976 | ACCACACT others(10): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058a0001c0001t0003g0142 | 2 | 196 | 0.0102 | -17 | c.145 others(34): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 12/16 | chr9 | TogoVar | ||||||
RFX3_chr9_3213297_3531001 | 3292061 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0023 | 1 | 196 | 0.0051 | -17 | c.731 others(33): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 6/16 | chr9 | TogoVar | ||||||
RFX3_chr9_3213297_3531001 | 3458535 | AAACAAAG others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0024a0001c0001t0025others(2): Show | a0001c0001t0007g0111a0001c0001t0024g0114a0001c0001t0025g0104others(2): Show | 5 | 196 | 0.0255 | -17 | c.-8- others(34): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
RFX4_chr12_106578004_106767803 | 106602484 | GGATTTGA others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01069.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0117a0001c0001t0001g0122a0001c0001t0001g0123others(28): Show | 31 | 296 | 0.1047 | -17 | c.44- others(32): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFX4_chr12_106578004_106767803 | 106737162 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01943.hp2 HG02257.hp1 others(10): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0271a0001c0001t0001g0292a0001c0003t0001g0008others(10): Show | 13 | 296 | 0.0439 | -17 | c.163 others(36): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFX5_chr1_151335640_151352252 | 151349497 | AAACACAC others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -17 | c.-24 others(28): Show |
RFX5 | ENSG00000143390.18 | transcript | ENST00000452671.7 | protein_coding | 2246 | chr1 | TogoVar | ||||||
RGL1_chr1_183800120_183933532 | 183805971 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0086others(61): Show | 66 | 296 | 0.2230 | -17 | c.28- others(30): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGL3_chr19_11389060_11424314 | 11405494 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 402 | 0.0025 | -17 | c.997 others(30): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 7/18 | chr19 | TogoVar | ||||||
RGMA_chr15_93030271_93094211 | 93083850 | AGCTTTGC others(10): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0012a0002c0003 | a0001c0002t0034a0001c0012t0006a0002c0003t0006others(1): Show | a0001c0002t0034g0002a0001c0012t0006g0024a0002c0003t0006g0262others(3): Show | 7 | 414 | 0.0169 | -17 | c.14+ others(32): Show |
RGMA | ENSG00000182175.15 | transcript | ENST00000329082.12 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
RGMA_chr15_93030271_93094211 | 93089825 | CCTCCCAC others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(255): Show | a0001c0001t0001g0011a0001c0001t0001g0029a0001c0001t0001g0066others(395): Show | 412 | 414 | 0.9952 | -17 | c.-91 others(26): Show |
RGMA | ENSG00000182175.15 | transcript | ENST00000329082.12 | protein_coding | 615 | chr15 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074246 | AGAAAGAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 NA18975.hp1 |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0008a0009c0012t0011 | a0001c0001t0008g0059a0009c0012t0011g0037 | 2 | 304 | 0.0066 | -17 | c.-50 others(28): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4196 | chrX | TogoVar | ||||||
RGP1_chr9_35744287_35763585 | 35759567 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp1 NA19086.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0001a0001c0002t0001g0003 | 2 | 438 | 0.0046 | -17 | c.*66 others(28): Show |
RGP1 | ENSG00000107185.10 | transcript | ENST00000378078.5 | protein_coding | 983 | chr9 | TogoVar | ||||||
RGPD1_chr2_86937118_87018976 | 86998511 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0058 | 2 | 102 | 0.0196 | -17 | c.523 others(34): Show |
RGPD1 | ENSG00000187627.18 | transcript | ENST00000641458.2 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |