view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPA2_chr1_27886524_27919575 | 27916596 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046a0001c0001t0002g0122a0001c0001t0002g0127 | 3 | 364 | 0.0082 | -6 | c.-21 others(17): Show |
RPA2 | ENSG00000117748.10 | transcript | ENST00000373912.8 | protein_coding | 2022 | chr1 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7663604 | ATGAATC | A | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0295a0001c0001t0002g0294a0001c0001t0005g0001others(6): Show | 11 | 308 | 0.0357 | -6 | c.-75 others(27): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7673310 | TAGCAGC | T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0096a0001c0001t0001g0108others(40): Show | 43 | 308 | 0.1396 | -6 | c.-75 others(27): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA4_chrX_96878908_96890467 | 96888947 | TAAAATA | T | downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 319 | 0.0031 | -6 | c.*38 others(17): Show |
RPA4 | ENSG00000204086.4 | transcript | ENST00000373040.4 | protein_coding | 3481 | chrX | TogoVar | |||||||
RPAIN_chr17_5415182_5437877 | 5435874 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(124): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0001 | a0001c0002t0002a0001c0002t0004a0001c0007t0002others(1): Show | a0001c0002t0002g0001a0001c0002t0002g0008a0001c0002t0002g0009others(46): Show | 127 | 400 | 0.3175 | -6 | c.*33 others(17): Show |
RPAIN | ENSG00000129197.15 | transcript | ENST00000381209.8 | protein_coding | 2998 | chr17 | TogoVar | |||||||
RPAP1_chr15_41512176_41549257 | 41515044 | CTGAGTA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(172): Show |
a0001a0002a0003others(8): Show | a0001c0013a0001c0014a0002c0002others(15): Show | a0001c0013t0001a0001c0014t0001a0002c0002t0001others(16): Show | a0001c0013t0001g0187a0001c0013t0001g0201a0001c0013t0001g0223others(129): Show | 175 | 414 | 0.4227 | -6 | c.*24 others(17): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 2131 | chr15 | TogoVar | |||||||
RPAP1_chr15_41512176_41549257 | 41531519 | AGTTAAT | A | intron_variant | MODIFIER | HG00741.hp1 HG03927.hp2 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096a0002c0002t0001g0107a0002c0002t0001g0108 | 3 | 414 | 0.0073 | -6 | c.764 others(21): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 6/24 | chr15 | TogoVar | |||||||
RPAP2_chr1_92294059_92407056 | 92309536 | CACACAT | C | intron_variant | MODIFIER | HG01123.hp1 HG01175.hp2 HG01257.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0017others(4): Show | a0001c0001t0002a0001c0001t0032a0001c0002t0001others(5): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0032g0091others(11): Show | 14 | 192 | 0.0729 | -6 | c.488 others(23): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP2_chr1_92294059_92407056 | 92345934 | TTAACTC | T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG03225.hp1 |
a0001 | a0001c0020a0001c0046 | a0001c0020t0018a0001c0046t0055 | a0001c0020t0018g0160a0001c0020t0018g0161a0001c0046t0055g0162 | 3 | 192 | 0.0156 | -6 | c.168 others(21): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP2_chr1_92294059_92407056 | 92348970 | TATAAAG | T | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01069.hp1 others(40): Show |
a0001a0004 | a0001c0002a0001c0012a0001c0015others(4): Show | a0001c0002t0001a0001c0002t0019a0001c0002t0059others(12): Show | a0001c0002t0001g0002a0001c0002t0001g0017a0001c0002t0001g0019others(39): Show | 43 | 192 | 0.2240 | -6 | c.168 others(25): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPAP3_chr12_47656249_47711030 | 47673941 | TTTAATA | T | intron_variant | MODIFIER | NA18747.hp1 NA18954.hp2 NA18956.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0037others(8): Show | 17 | 414 | 0.0411 | -6 | c.128 others(25): Show |
RPAP3 | ENSG00000005175.10 | transcript | ENST00000005386.8 | protein_coding | 12/16 | chr12 | TogoVar | |||||||
RPAP3_chr12_47656249_47711030 | 47697739 | AACAGGG | A | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01175.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0002c0004t0018 | a0001c0001t0006g0028a0001c0001t0006g0066a0001c0001t0006g0067others(8): Show | 13 | 414 | 0.0314 | -6 | c.295 others(19): Show |
RPAP3 | ENSG00000005175.10 | transcript | ENST00000005386.8 | protein_coding | 3/16 | chr12 | TogoVar | |||||||
RPAP3_chr12_47656249_47711030 | 47706893 | CTGTGTG | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(24): Show | 45 | 414 | 0.1087 | -6 | c.-95 others(15): Show |
RPAP3 | ENSG00000005175.10 | transcript | ENST00000005386.8 | protein_coding | 864 | chr12 | TogoVar | |||||||
RPE65_chr1_68423822_68454954 | 68434091 | GATATAT | G | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0060a0001c0004t0004g0198 | 3 | 456 | 0.0066 | -6 | c.112 others(25): Show |
RPE65 | ENSG00000116745.7 | transcript | ENST00000262340.6 | protein_coding | 10/13 | chr1 | TogoVar | |||||||
RPE65_chr1_68423822_68454954 | 68452696 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG02572.hp1 HG03225.hp1 HG03516.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0059a0001c0006t0001g0195 | 3 | 456 | 0.0066 | -6 | c.-27 others(17): Show |
RPE65 | ENSG00000116745.7 | transcript | ENST00000262340.6 | protein_coding | 2743 | chr1 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103252953 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01071.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0005g0000others(2): Show | 17 | 375 | 0.0453 | -6 | c.*62 others(17): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 4938 | chr10 | TogoVar | |||||||
RPF1_chr1_84474266_84503352 | 84483253 | GTTTTGT | G | intron_variant | MODIFIER | HG01168.hp2 HG01993.hp1 NA18988.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 4 | 350 | 0.0114 | -6 | c.366 others(21): Show |
RPF1 | ENSG00000117133.11 | transcript | ENST00000370654.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPF2_chr6_110977038_111033263 | 111017391 | GCGGAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(94): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0270others(90): Show | 97 | 360 | 0.2694 | -6 | c.596 others(23): Show |
RPF2 | ENSG00000197498.13 | transcript | ENST00000441448.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RPF2_chr6_110977038_111033263 | 111018199 | CGGGGAG | C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0017a0001c0001t0007g0328a0001c0001t0007g0329others(2): Show | 6 | 360 | 0.0167 | -6 | c.596 others(23): Show |
RPF2 | ENSG00000197498.13 | transcript | ENST00000441448.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RPF2_chr6_110977038_111033263 | 111018214 | GGAGGGA | G | intron_variant | MODIFIER | HG02683.hp1 HG02735.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0023 | a0001c0001t0001g0029a0001c0001t0011g0042a0001c0001t0011g0066others(1): Show | 4 | 360 | 0.0111 | -6 | c.596 others(23): Show |
RPF2 | ENSG00000197498.13 | transcript | ENST00000441448.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RPGRIP1L_chr16_53593153_53708859 | 53603674 | ATGTGTG | A | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(71): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0003a0001c0005t0005a0002c0002t0001others(9): Show | a0001c0001t0003g0037a0001c0001t0003g0038a0001c0005t0005g0003others(70): Show | 74 | 364 | 0.2033 | -6 | c.383 others(25): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 26/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53622799 | CCACACA | C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG02257.hp1 others(10): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0266a0001c0001t0002g0283a0001c0001t0003g0037others(10): Show | 13 | 364 | 0.0357 | -6 | c.329 others(23): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 22/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53624750 | TCCCTCC | T | intron_variant | MODIFIER | HG01074.hp1 HG01516.hp2 HG02486.hp2 others(2): Show |
a0001a0009 | a0001c0001a0009c0025 | a0001c0001t0002a0001c0001t0007a0009c0025t0001 | a0001c0001t0002g0270a0001c0001t0002g0284a0001c0001t0007g0009others(2): Show | 5 | 364 | 0.0137 | -6 | c.329 others(25): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 22/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53636941 | GACACAC | G | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01891.hp2 others(31): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0002g0232a0001c0001t0002g0235a0001c0001t0002g0247others(30): Show | 34 | 364 | 0.0934 | -6 | c.322 others(23): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 21/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53648613 | TGCGCGC | T | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG04199.hp1 |
a0005 | a0005c0006a0005c0023 | a0005c0006t0001a0005c0023t0001 | a0005c0006t0001g0031a0005c0006t0001g0343a0005c0023t0001g0341 | 3 | 364 | 0.0082 | -6 | c.230 others(23): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 16/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53697311 | ATCTCCC | A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00738.hp2 others(55): Show |
a0001a0003a0007 | a0001c0001a0001c0007a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(4): Show | a0001c0001t0001g0082a0001c0001t0002g0134a0001c0007t0001g0004others(52): Show | 58 | 364 | 0.1593 | -6 | c.86- others(21): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 2/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53697527 | GGTTTTC | G | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00597.hp1 others(55): Show |
a0002a0010a0015 | a0002c0002a0002c0020a0010c0024others(1): Show | a0002c0002t0001a0002c0002t0011a0002c0002t0016others(4): Show | a0002c0002t0001g0010a0002c0002t0001g0144a0002c0002t0001g0145others(55): Show | 58 | 364 | 0.1593 | -6 | c.86- others(21): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 2/26 | chr16 | TogoVar | |||||||
RPGRIP1_chr14_21275083_21356301 | 21301719 | TAATAAA | T | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00733.hp2 others(35): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0004a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0043a0001c0001t0001g0241others(35): Show | 38 | 332 | 0.1145 | -6 | c.490 others(21): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21304393 | AAGAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp2 others(12): Show |
a0003a0005a0007 | a0003c0003a0003c0012a0005c0005others(1): Show | a0003c0003t0001a0003c0012t0001a0005c0005t0001others(1): Show | a0003c0003t0001g0046a0003c0003t0001g0159a0003c0003t0001g0164others(12): Show | 15 | 332 | 0.0452 | -6 | c.800 others(21): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21306112 | CTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01261.hp2 HG01346.hp1 others(27): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0003a0006c0006others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0003others(3): Show | a0002c0002t0001g0049a0002c0002t0001g0053a0002c0002t0001g0066others(27): Show | 30 | 332 | 0.0904 | -6 | c.801 others(23): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21343866 | GTTTTTT | G | intron_variant | MODIFIER | HG01071.hp1 HG02027.hp2 HG02074.hp2 others(5): Show |
a0001a0003a0006others(3): Show | a0001c0001a0003c0012a0006c0006others(3): Show | a0001c0001t0001a0003c0012t0001a0006c0006t0001others(3): Show | a0001c0001t0001g0243a0001c0001t0001g0266a0001c0001t0001g0309others(5): Show | 8 | 332 | 0.0241 | -6 | c.353 others(23): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGR_chrX_38279408_38332509 | 38282777 | TCAGCAG | T | downstream_gene_variant | MODIFIER | HG02080.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0185 | 1 | 302 | 0.0033 | -6 | c.*27 others(17): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 1630 | chrX | TogoVar | |||||||
RPGR_chrX_38279408_38332509 | 38286327 | CCTTCCT | C | disruptive_inframe_deletion | MODERATE | HG02818.hp1 | a0031 | a0031c0029 | a0031c0029t0002 | a0031c0029t0002g0172 | 1 | 302 | 0.0033 | -6 | c.266 others(15): Show |
p.Glu others(13): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 2813/4733 | 2666/3459 | 889/1152 | chrX | TogoVar | |||
RPGR_chrX_38279408_38332509 | 38318530 | CAAAAAT | C | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01081.hp1 others(11): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0005a0009c0010t0005 | a0001c0001t0005g0011a0001c0001t0005g0039a0001c0001t0005g0040others(4): Show | 14 | 302 | 0.0464 | -6 | c.469 others(21): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 5/14 | chrX | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 232829 | CGTGTGT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0115a0001c0001t0004g0092a0001c0001t0006g0072others(12): Show | 15 | 133 | 0.1128 | -6 | c.614 others(25): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 241055 | CAATAAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0002g0069a0001c0001t0006g0072a0001c0001t0010g0131others(1): Show | 4 | 133 | 0.0301 | -6 | c.613 others(23): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3A_chr12_112786748_112903881 | 112857852 | TCAGCTC | T | intron_variant | MODIFIER | HG01069.hp1 HG01943.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0057a0001c0001t0079a0001c0001t0147 | a0001c0001t0057g0202a0001c0001t0079g0100a0001c0001t0147g0133 | 3 | 266 | 0.0113 | -6 | c.231 others(23): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RPH3A_chr12_112786748_112903881 | 112897145 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG01123.hp1 HG01496.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0033a0001c0001t0041others(7): Show | a0001c0001t0023g0070a0001c0001t0023g0118a0001c0001t0033g0064others(10): Show | 13 | 266 | 0.0489 | -6 | c.*39 others(15): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 22/22 | 390 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RPH3A_chr12_112786748_112903881 | 112902332 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01433.hp1 HG02451.hp2 HG02559.hp2 others(23): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0027others(21): Show | a0001c0001t0009g0045a0001c0001t0009g0103a0001c0001t0009g0159others(23): Show | 26 | 266 | 0.0977 | -6 | c.*55 others(17): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 3452 | chr12 | TogoVar | |||||||
RPL10_chrX_154393377_154407332 | 154407218 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG03130.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004a0002c0002t0002g0006a0002c0002t0002g0023 | 6 | 276 | 0.0217 | -6 | c.*63 others(17): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 4887 | chrX | TogoVar | |||||||
RPL14_chr3_40452339_40473587 | 40462029 | ACTGCTG | A | conservative_inframe_deletion | MODERATE | HG02486.hp2 HG02970.hp2 NA21309.hp1 |
a0014 | a0014c0012 | a0014c0012t0003a0014c0012t0031 | a0014c0012t0003g0084a0014c0012t0003g0085a0014c0012t0031g0013 | 3 | 418 | 0.0072 | -6 | c.472 others(13): Show |
p.Ala others(13): Show |
RPL14 | ENSG00000188846.14 | transcript | ENST00000396203.7 | protein_coding | 6/6 | 605/7136 | 472/648 | 158/215 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
RPL17_chr18_49483481_49497465 | 49484147 | AATATAT | A | downstream_gene_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0015others(1): Show | 7 | 445 | 0.0157 | -6 | c.*43 others(17): Show |
RPL17 | ENSG00000265681.8 | transcript | ENST00000580261.6 | protein_coding | 4333 | chr18 | TogoVar | |||||||
RPL17_chr18_49483481_49497465 | 49484167 | TACACAC | T | downstream_gene_variant | MODIFIER | HG02602.hp1 HG03017.hp1 HG03688.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0021 | 7 | 445 | 0.0157 | -6 | c.*43 others(17): Show |
RPL17 | ENSG00000265681.8 | transcript | ENST00000580261.6 | protein_coding | 4313 | chr18 | TogoVar | |||||||
RPL18A_chr19_17854910_17868319 | 17858107 | AAACAAC | A | upstream_gene_variant | MODIFIER | HG02717.hp1 HG03130.hp1 NA19240.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0015 | 5 | 410 | 0.0122 | -6 | c.-18 others(17): Show |
RPL18A | ENSG00000105640.13 | transcript | ENST00000222247.10 | protein_coding | 1802 | chr19 | TogoVar | |||||||
RPL21_chr13_27246558_27261568 | 27249382 | TACTGTC | T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG01243.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0028others(9): Show | 25 | 424 | 0.0590 | -6 | c.-22 others(17): Show |
RPL21 | ENSG00000122026.11 | transcript | ENST00000311549.11 | protein_coding | 2175 | chr13 | TogoVar | |||||||
RPL23_chr17_38842860_38858721 | 38847376 | TAAAAAA | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(209): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0015others(30): Show | 212 | 418 | 0.5072 | -6 | c.*27 others(17): Show |
RPL23 | ENSG00000125691.14 | transcript | ENST00000479035.7 | protein_coding | 483 | chr17 | TogoVar | |||||||
RPL24_chr3_101676091_101691718 | 101684776 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0087others(1): Show | 17 | 444 | 0.0383 | -6 | c.192 others(23): Show |
RPL24 | ENSG00000114391.14 | transcript | ENST00000394077.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
RPL26_chr17_8372516_8388193 | 8373149 | CTCTCCG | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(49): Show | 302 | 422 | 0.7156 | -6 | c.*44 others(17): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 4366 | chr17 | TogoVar | |||||||
RPL26_chr17_8372516_8388193 | 8384050 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01175.hp2 HG01257.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(8): Show | 29 | 422 | 0.0687 | -6 | c.-90 others(15): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 858 | chr17 | TogoVar | |||||||
RPL29_chr3_51988522_52000895 | 51993837 | TCCTTGG | T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(47): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(2): Show | a0003c0003t0001g0003a0003c0003t0001g0004a0003c0003t0001g0020others(5): Show | 50 | 321 | 0.1558 | -6 | c.386 others(13): Show |
p.Ala others(13): Show |
RPL29 | ENSG00000162244.12 | transcript | ENST00000294189.11 | protein_coding | 4/4 | 438/754 | 386/480 | 129/159 | chr3 | TogoVar |