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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RP1L1_chr8_10601349_10660143 | 10631322 | CGCACACA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 NA18945.hp1 NA18967.hp2 others(3): Show |
a0010a0011a0021others(2): Show | a0010c0010a0010c0049a0011c0008others(3): Show | a0010c0010t0006a0010c0049t0006a0011c0008t0001others(3): Show | a0010c0010t0006g0013 a0010c0049t0006g0014 a0011c0008t0001g0012 others(3): Show |
6 | 414 | 0.0145 | -12 | c.-19 others(29): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
RP1L1_chr8_10601349_10660143 | 10631371 | GCACACAA others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG03490.hp1 HG03492.hp1 others(1): Show |
a0001a0002a0034 | a0001c0032a0002c0001a0034c0016 | a0001c0032t0004a0002c0001t0001a0034c0016t0003 | a0001c0032t0004g0114 a0002c0001t0001g0049 a0034c0016t0003g0004 |
4 | 414 | 0.0097 | -12 | c.-19 others(29): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
RP1L1_chr8_10601349_10660143 | 10655849 | TGGAAATT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0056 | a0056c0196 | a0056c0196t0001 | a0056c0196t0001g0023 | 1 | 414 | 0.0024 | -12 | c.-98 others(21): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 707 | chr8 | TogoVar | |||||||
RP2_chrX_46832043_46887358 | 46836336 | AAAAGAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01070.hp2 others(38): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(32): Show |
41 | 274 | 0.1496 | -12 | c.-76 others(21): Show |
RP2 | ENSG00000102218.6 | transcript | ENST00000218340.4 | protein_coding | 706 | chrX | TogoVar | |||||||
RPA1_chr17_1825005_1905082 | 1843598 | CATTATTA others(5): Show |
C | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0005 | a0001c0005t0023 | a0001c0005t0023g0288 | 1 | 402 | 0.0025 | -12 | c.85- others(25): Show |
RPA1 | ENSG00000132383.12 | transcript | ENST00000254719.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPA2_chr1_27886524_27919575 | 27916596 | TTGTGTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0030 |
3 | 364 | 0.0082 | -12 | c.-21 others(23): Show |
RPA2 | ENSG00000117748.10 | transcript | ENST00000373912.8 | protein_coding | 2022 | chr1 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7673310 | TAGCAGCA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0176 a0001c0001t0002g0098 a0001c0001t0002g0217 others(4): Show |
7 | 308 | 0.0227 | -12 | c.-75 others(33): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPAP1_chr15_41512176_41549257 | 41516829 | AATAGATA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00738.hp2 others(6): Show |
a0002a0003a0007 | a0002c0032a0003c0003a0007c0008 | a0002c0032t0001a0003c0003t0002a0007c0008t0001 | a0002c0032t0001g0073 a0003c0003t0002g0313 a0007c0008t0001g0247 others(6): Show |
9 | 414 | 0.0217 | -12 | c.*70 others(21): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 346 | chr15 | TogoVar | |||||||
RPAP1_chr15_41512176_41549257 | 41531617 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA18948.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0292 | 1 | 414 | 0.0024 | -12 | c.764 others(27): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 6/24 | chr15 | TogoVar | |||||||
RPAP2_chr1_92294059_92407056 | 92309536 | CACACATA others(5): Show |
C | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 192 | 0.0052 | -12 | c.488 others(29): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP2_chr1_92294059_92407056 | 92309562 | CACATACA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(118): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(24): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(61): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0065 others(116): Show |
121 | 192 | 0.6302 | -12 | c.488 others(29): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP2_chr1_92294059_92407056 | 92351305 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01109.hp1 others(14): Show |
a0001 | a0001c0003a0001c0005a0001c0021 | a0001c0003t0009a0001c0003t0012a0001c0003t0072others(7): Show | a0001c0003t0009g0001 a0001c0003t0009g0147 a0001c0003t0012g0001 others(12): Show |
17 | 192 | 0.0885 | -12 | c.168 others(31): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP2_chr1_92294059_92407056 | 92371311 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01891.hp1 |
a0001 | a0001c0001a0001c0033 | a0001c0001t0002a0001c0033t0047 | a0001c0001t0002g0137 a0001c0033t0047g0060 |
2 | 192 | 0.0104 | -12 | c.168 others(31): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP2_chr1_92294059_92407056 | 92371313 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(79): Show |
a0001 | a0001c0001a0001c0007a0001c0010others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0065 others(78): Show |
82 | 192 | 0.4271 | -12 | c.168 others(31): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP2_chr1_92294059_92407056 | 92371315 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02738.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0017a0001c0019 | a0001c0001t0004a0001c0017t0002a0001c0019t0034 | a0001c0001t0004g0116 a0001c0017t0002g0068 a0001c0019t0034g0088 |
3 | 192 | 0.0156 | -12 | c.168 others(31): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP2_chr1_92294059_92407056 | 92373733 | TAAAAATA others(5): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0013a0001c0017t0002 | a0001c0001t0013g0073 a0001c0017t0002g0101 |
2 | 192 | 0.0104 | -12 | c.168 others(31): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP3_chr12_47656249_47711030 | 47673444 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00735.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0028others(1): Show | a0001c0001t0002g0007 a0001c0001t0002g0021 a0001c0001t0002g0023 others(44): Show |
70 | 414 | 0.1691 | -12 | c.128 others(31): Show |
RPAP3 | ENSG00000005175.10 | transcript | ENST00000005386.8 | protein_coding | 12/16 | chr12 | TogoVar | |||||||
RPAP3_chr12_47656249_47711030 | 47706881 | GTGTGTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 414 | 0.0024 | -12 | c.-94 others(21): Show |
RPAP3 | ENSG00000005175.10 | transcript | ENST00000005386.8 | protein_coding | 852 | chr12 | TogoVar | |||||||
RPAP3_chr12_47656249_47711030 | 47706893 | CTGTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01256.hp2 others(46): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 others(38): Show |
49 | 414 | 0.1184 | -12 | c.-96 others(21): Show |
RPAP3 | ENSG00000005175.10 | transcript | ENST00000005386.8 | protein_coding | 864 | chr12 | TogoVar | |||||||
RPE65_chr1_68423822_68454954 | 68436444 | CTATTTAT others(5): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG02922.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0002a0001c0002t0001a0001c0017t0001 | a0001c0001t0002g0112 a0001c0002t0001g0173 a0001c0002t0001g0174 others(1): Show |
4 | 456 | 0.0088 | -12 | c.112 others(31): Show |
RPE65 | ENSG00000116745.7 | transcript | ENST00000262340.6 | protein_coding | 10/13 | chr1 | TogoVar | |||||||
RPE65_chr1_68423822_68454954 | 68440826 | CAGAAGAG others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 456 | 0.0022 | -12 | c.643 others(25): Show |
RPE65 | ENSG00000116745.7 | transcript | ENST00000262340.6 | protein_coding | 6/13 | chr1 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103250914 | ACCATCAC others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(128): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 others(3): Show |
131 | 375 | 0.3493 | -12 | c.*42 others(23): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 2899 | chr10 | TogoVar | |||||||
RPF1_chr1_84474266_84503352 | 84476405 | TTTTATTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0119 |
5 | 350 | 0.0143 | -12 | c.-28 others(23): Show |
RPF1 | ENSG00000117133.11 | transcript | ENST00000370654.6 | protein_coding | 2860 | chr1 | TogoVar | |||||||
RPF1_chr1_84474266_84503352 | 84483265 | TTTTTGTT others(5): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 350 | 0.0029 | -12 | c.366 others(27): Show |
RPF1 | ENSG00000117133.11 | transcript | ENST00000370654.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPF2_chr6_110977038_111033263 | 111011276 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0295 a0001c0001t0003g0139 |
2 | 360 | 0.0056 | -12 | c.493 others(29): Show |
RPF2 | ENSG00000197498.13 | transcript | ENST00000441448.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RPGRIP1L_chr16_53593153_53708859 | 53622799 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 364 | 0.0028 | -12 | c.329 others(29): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 22/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53697311 | ATCTCCCT others(5): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0058 | 1 | 364 | 0.0028 | -12 | c.86- others(27): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 2/26 | chr16 | TogoVar | |||||||
RPGRIP1_chr14_21275083_21356301 | 21294830 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02622.hp2 others(7): Show |
a0001a0003a0018 | a0001c0001a0003c0003a0018c0042 | a0001c0001t0001a0003c0003t0001a0003c0003t0003others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0043 a0003c0003t0001g0006 others(7): Show |
10 | 332 | 0.0301 | -12 | c.218 others(25): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21301713 | TAATAATA others(5): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02165.hp1 HG02615.hp1 others(10): Show |
a0001a0003a0009others(2): Show | a0001c0001a0001c0004a0003c0003others(3): Show | a0001c0001t0001a0001c0004t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0067 a0001c0001t0001g0138 a0001c0001t0001g0267 others(10): Show |
13 | 332 | 0.0392 | -12 | c.490 others(27): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21304389 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01516.hp2 HG01884.hp1 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(13): Show |
16 | 332 | 0.0482 | -12 | c.800 others(27): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21306112 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(64): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0002c0039others(13): Show | a0001c0001t0001a0001c0004t0001a0002c0039t0001others(14): Show | a0001c0001t0001g0067 a0001c0001t0001g0102 a0001c0001t0001g0135 others(64): Show |
67 | 332 | 0.2018 | -12 | c.801 others(29): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21326498 | TAGCTGGG others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 332 | 0.0030 | -12 | c.271 others(29): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21343866 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02148.hp1 HG02257.hp2 |
a0001a0006 | a0001c0001a0001c0004a0006c0006 | a0001c0001t0001a0001c0004t0001a0006c0006t0001 | a0001c0001t0001g0146 a0001c0004t0001g0190 a0006c0006t0001g0038 |
3 | 332 | 0.0090 | -12 | c.353 others(29): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21345387 | GTTATTTA others(5): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0178 | 1 | 332 | 0.0030 | -12 | c.361 others(29): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGR_chrX_38279408_38332509 | 38285913 | TCCTCCCC others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01074.hp1 HG01169.hp1 HG01257.hp1 others(1): Show |
a0010 | a0010c0011 | a0010c0011t0002 | a0010c0011t0002g0013 | 4 | 302 | 0.0133 | -12 | c.307 others(21): Show |
p.Val others(15): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3227/4733 | 3074/3459 | 1025/1152 | chrX | TogoVar | |||
RPGR_chrX_38279408_38332509 | 38285927 | CTCCCCTT others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG00642.hp1 HG01069.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0017 a0005c0007t0004g0037 a0005c0007t0004g0109 others(2): Show |
8 | 302 | 0.0265 | -12 | c.306 others(21): Show |
p.Val others(15): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 3213/4733 | 3060/3459 | 1020/1152 | chrX | TogoVar | |||
RPGR_chrX_38279408_38332509 | 38319730 | TTGTTAAT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02572.hp1 others(5): Show |
a0007a0012 | a0007c0009a0012c0019 | a0007c0009t0001a0007c0009t0006a0012c0019t0006 | a0007c0009t0001g0113 a0007c0009t0001g0114 a0007c0009t0001g0129 others(4): Show |
8 | 302 | 0.0265 | -12 | c.311 others(27): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 4/14 | chrX | TogoVar | |||||||
RPGR_chrX_38279408_38332509 | 38331431 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp1 NA18955.hp1 NA18957.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0045 a0003c0003t0001g0019 a0003c0003t0001g0020 |
5 | 302 | 0.0166 | -12 | c.-40 others(23): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 3923 | chrX | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 232829 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG03540.hp2 NA18995.hp1 |
a0001a0004 | a0001c0001a0001c0004a0004c0007 | a0001c0001t0005a0001c0004t0001a0004c0007t0007 | a0001c0001t0005g0132 a0001c0004t0001g0050 a0004c0007t0007g0117 |
3 | 133 | 0.0226 | -12 | c.614 others(31): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242455 | ACCTTCCT others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0095 | 1 | 133 | 0.0075 | -12 | c.613 others(29): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242472 | ACCTTCCT others(5): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0012 | a0003c0012t0005 | a0003c0012t0005g0020 | 1 | 133 | 0.0075 | -12 | c.613 others(29): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3A_chr12_112786748_112903881 | 112837895 | TTTCCTCC others(5): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0197 | a0001c0002t0197g0098 | 1 | 266 | 0.0038 | -12 | c.83+ others(27): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RPL11_chr1_23686806_23701835 | 23699564 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02055.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002 a0001c0001t0006g0011 |
3 | 388 | 0.0077 | -12 | c.*31 others(23): Show |
RPL11 | ENSG00000142676.14 | transcript | ENST00000643754.2 | protein_coding | 2730 | chr1 | TogoVar | |||||||
RPL13A_chr19_49482608_49497308 | 49485239 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011 | a0001c0001t0001g0031 a0001c0001t0008g0023 a0001c0001t0011g0023 |
3 | 338 | 0.0089 | -12 | c.-23 others(23): Show |
RPL13A | ENSG00000142541.18 | transcript | ENST00000391857.9 | protein_coding | 2368 | chr19 | TogoVar | |||||||
RPL14_chr3_40452339_40473587 | 40462029 | ACTGCTGC others(5): Show |
A | conservative_inframe_deletion | MODERATE | NA18968.hp2 NA18993.hp2 |
a0017 | a0017c0015 | a0017c0015t0115a0017c0015t0122 | a0017c0015t0115g0002 a0017c0015t0122g0002 |
2 | 418 | 0.0048 | -12 | c.466 others(19): Show |
p.Ala others(13): Show |
RPL14 | ENSG00000188846.14 | transcript | ENST00000396203.7 | protein_coding | 6/6 | 599/7136 | 466/648 | 156/215 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
RPL17_chr18_49483481_49497465 | 49484147 | AATATATA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 2 | 445 | 0.0045 | -12 | c.*43 others(23): Show |
RPL17 | ENSG00000265681.8 | transcript | ENST00000580261.6 | protein_coding | 4333 | chr18 | TogoVar | |||||||
RPL17_chr18_49483481_49497465 | 49494278 | CTTTCTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 445 | 0.0023 | -12 | c.-18 others(23): Show |
RPL17 | ENSG00000265681.8 | transcript | ENST00000580261.6 | protein_coding | 1814 | chr18 | TogoVar | |||||||
RPL18_chr19_48610331_48624178 | 48610398 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 382 | 0.0026 | -12 | c.*49 others(23): Show |
RPL18 | ENSG00000063177.13 | transcript | ENST00000549920.6 | protein_coding | 4932 | chr19 | TogoVar | |||||||
RPL22_chr1_6180020_6204595 | 6187615 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0081 a0001c0001t0007g0083 |
2 | 372 | 0.0054 | -12 | c.243 others(27): Show |
RPL22 | ENSG00000116251.11 | transcript | ENST00000234875.9 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
RPL24_chr3_101676091_101691718 | 101684776 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01081.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0051 others(11): Show |
48 | 444 | 0.1081 | -12 | c.192 others(29): Show |
RPL24 | ENSG00000114391.14 | transcript | ENST00000394077.8 | protein_coding | 3/5 | chr3 | TogoVar |