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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNF150_chr4_140854807_141138469 | 141000066 | AAGAAGAA others(14): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01993.hp2 HG02886.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(8): Show | a0001c0001t0001g0070 a0001c0001t0001g0121 a0001c0001t0002g0107 others(9): Show |
12 | 184 | 0.0652 | -21 | c.485 others(40): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RNF150_chr4_140854807_141138469 | 141002584 | TTAAAAAT others(14): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02723.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0007a0001c0001t0012others(8): Show | a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0007g0086 others(9): Show |
12 | 184 | 0.0652 | -21 | c.485 others(40): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RNF157_chr17_76137474_76245493 | 76195306 | GATCACCT others(14): Show |
G | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0020 | 1 | 234 | 0.0043 | -21 | c.207 others(40): Show |
RNF157 | ENSG00000141576.16 | transcript | ENST00000269391.11 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24813793 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG02056.hp2 others(18): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0004c0004t0002others(2): Show | a0001c0001t0001g0209 a0001c0001t0001g0246 a0001c0001t0001g0255 others(18): Show |
21 | 426 | 0.0493 | -21 | c.209 others(40): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 15/35 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RNF212_chr4_1066478_1118564 | 1087503 | TGGGGGGT others(14): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 406 | 0.0025 | -21 | c.304 others(38): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80257459 | CATGAGTA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(58): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0003a0001c0004others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(53): Show | a0001c0001t0001g0112 a0001c0001t0001g0160 a0001c0001t0002g0070 others(58): Show |
61 | 292 | 0.2089 | -21 | c.-35 others(32): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3392 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80314175 | GTGATGGT others(14): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG03516.hp2 NA19240.hp1 |
a0001a0017a0084 | a0001c0004a0017c0109a0084c0057 | a0001c0004t0014a0017c0109t0006a0084c0057t0004 | a0001c0004t0014g0053 a0017c0109t0006g0083 a0084c0057t0004g0091 |
3 | 292 | 0.0103 | -21 | c.281 others(40): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314427 | CTGGAGGT others(14): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG04228.hp1 |
a0012a0090 | a0012c0012a0090c0042 | a0012c0012t0056a0090c0042t0008 | a0012c0012t0056g0192 a0090c0042t0008g0208 |
2 | 292 | 0.0069 | -21 | c.281 others(40): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80315496 | TGGTGGTG others(14): Show |
T | intron_variant | MODIFIER | HG03688.hp1 NA18945.hp2 NA18950.hp2 others(4): Show |
a0001a0002a0007 | a0001c0001a0001c0053a0002c0026others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0075others(3): Show | a0001c0001t0001g0264 a0001c0001t0001g0288 a0001c0001t0002g0070 others(4): Show |
7 | 292 | 0.0240 | -21 | c.281 others(40): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80315501 | GTGGTGGA others(14): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0081 | a0081c0066 | a0081c0066t0040 | a0081c0066t0040g0030 | 1 | 292 | 0.0034 | -21 | c.281 others(40): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF216_chr7_5615047_5786663 | 5660265 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02965.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0032a0001c0004t0007 | a0001c0003t0032g0052 a0001c0004t0007g0149 a0001c0004t0007g0150 others(1): Show |
4 | 274 | 0.0146 | -21 | c.206 others(40): Show |
RNF216 | ENSG00000011275.19 | transcript | ENST00000389902.8 | protein_coding | 13/16 | chr7 | TogoVar | |||||||
RNF216_chr7_5615047_5786663 | 5755218 | GAAGGAAG others(14): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 |
a0003 | a0003c0007 | a0003c0007t0001a0003c0007t0021 | a0003c0007t0001g0176 a0003c0007t0021g0182 |
2 | 274 | 0.0073 | -21 | c.68- others(36): Show |
RNF216 | ENSG00000011275.19 | transcript | ENST00000389902.8 | protein_coding | 2/16 | chr7 | TogoVar | |||||||
RNF220_chr1_44400255_44656723 | 44474378 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(60): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(60): Show |
63 | 218 | 0.2890 | -21 | c.625 others(40): Show |
RNF220 | ENSG00000187147.19 | transcript | ENST00000361799.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF222_chr17_8385702_8402827 | 8387420 | TTTGAGAT others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(71): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0072 others(12): Show |
74 | 436 | 0.1697 | -21 | c.*53 others(32): Show |
RNF222 | ENSG00000189051.6 | transcript | ENST00000399398.3 | protein_coding | 3281 | chr17 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1067410 | AGGACGCC others(14): Show |
A | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | -21 | c.*43 others(32): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 3556 | chr1 | TogoVar | |||||||
RNF2_chr1_185040558_185107603 | 185076268 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0289 | 1 | 350 | 0.0029 | -21 | c.-2- others(38): Show |
RNF2 | ENSG00000121481.11 | transcript | ENST00000367510.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF32_chr7_156635774_156682130 | 156640350 | GGAGCGTG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG06807.hp2 NA19043.hp2 |
a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0271 a0003c0003t0007g0272 |
2 | 448 | 0.0045 | -21 | c.-53 others(30): Show |
RNF32 | ENSG00000105982.17 | transcript | ENST00000317955.10 | protein_coding | 423 | chr7 | TogoVar | |||||||
RNF38_chr9_36331400_36405269 | 36347120 | CGGGGGGG others(14): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 402 | 0.0025 | -21 | c.126 others(40): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 9/11 | chr9 | TogoVar | |||||||
RNF38_chr9_36331400_36405269 | 36383718 | AATGTTGT others(14): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 402 | 0.0025 | -21 | c.162 others(38): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
RNF4_chr4_2464106_2520857 | 2518476 | TGTGCACC others(14): Show |
T | downstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 378 | 0.0027 | -21 | c.*46 others(32): Show |
RNF4 | ENSG00000063978.17 | transcript | ENST00000314289.13 | protein_coding | 2620 | chr4 | TogoVar | |||||||
RNGTT_chr6_88604897_88968618 | 88704057 | AGACCATG others(14): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0149 a0001c0001t0005g0153 a0001c0001t0005g0157 others(2): Show |
5 | 220 | 0.0227 | -21 | c.144 others(42): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 13/15 | chr6 | TogoVar | |||||||
RNGTT_chr6_88604897_88968618 | 88889584 | ATTTTATT others(14): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 others(2): Show |
5 | 220 | 0.0227 | -21 | c.896 others(36): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 8/15 | chr6 | TogoVar | |||||||
RNGTT_chr6_88604897_88968618 | 88951396 | GAAGAAAG others(14): Show |
G | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 220 | 0.0046 | -21 | c.65- others(38): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 1/15 | chr6 | TogoVar | |||||||
RNLS_chr10_88279102_88588318 | 88452169 | TAGAGAAC others(14): Show |
T | intron_variant | MODIFIER | NA18956.hp2 NA19091.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0019 a0002c0002t0003g0020 |
2 | 232 | 0.0086 | -21 | c.527 others(40): Show |
RNLS | ENSG00000184719.13 | transcript | ENST00000331772.9 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
RNLS_chr10_88279102_88588318 | 88524939 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 232 | 0.0043 | -21 | c.526 others(40): Show |
RNLS | ENSG00000184719.13 | transcript | ENST00000331772.9 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
RNMT_chr18_13721673_13769556 | 13728325 | TTTTTTTG others(14): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp1 HG01261.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 others(15): Show |
19 | 376 | 0.0505 | -21 | c.-17 others(40): Show |
RNMT | ENSG00000101654.18 | transcript | ENST00000383314.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77090323 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02055.hp1 HG02109.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0046 a0001c0001t0002g0065 a0001c0001t0003g0140 others(18): Show |
21 | 160 | 0.1313 | -21 | c.62- others(36): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO3_chr11_124860432_124886471 | 124881731 | ACACACAC others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01884.hp1 others(26): Show |
a0002a0004 | a0002c0003a0004c0005a0004c0049 | a0002c0003t0001a0004c0005t0001a0004c0049t0001 | a0002c0003t0001g0043 a0002c0003t0001g0101 a0004c0005t0001g0007 others(10): Show |
29 | 402 | 0.0721 | -21 | c.*48 others(30): Show |
ROBO3 | ENSG00000154134.15 | transcript | ENST00000397801.6 | protein_coding | 261 | chr11 | TogoVar | |||||||
ROBO4_chr11_124878691_124902865 | 124881731 | ACACACAC others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01884.hp2 others(28): Show |
a0002a0003a0013 | a0002c0003a0003c0004a0013c0034 | a0002c0003t0001a0002c0003t0015a0003c0004t0001others(3): Show | a0002c0003t0001g0007 a0002c0003t0001g0037 a0002c0003t0001g0109 others(7): Show |
31 | 400 | 0.0775 | -21 | c.*31 others(32): Show |
ROBO4 | ENSG00000154133.15 | transcript | ENST00000306534.8 | protein_coding | 1959 | chr11 | TogoVar | |||||||
ROCK1_chr18_20941906_21116813 | 20959164 | TTATATAA others(14): Show |
T | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 212 | 0.0047 | -21 | c.351 others(38): Show |
ROCK1 | ENSG00000067900.9 | transcript | ENST00000399799.3 | protein_coding | 29/32 | chr18 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11252638 | CATGTCCT others(14): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 320 | 0.0031 | -21 | c.325 others(38): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295969 | AGAGAGAG others(14): Show |
A | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0312 | 1 | 320 | 0.0031 | -21 | c.142 others(38): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295988 | GAGGAGAG others(14): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0304 | 1 | 320 | 0.0031 | -21 | c.142 others(38): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROR2_chr9_91717601_91955228 | 91718739 | GGGCGGTG others(14): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0012 | a0012c0038 | a0012c0038t0002 | a0012c0038t0002g0016 | 1 | 226 | 0.0044 | -21 | c.*49 others(32): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 3861 | chr9 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60597554 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0079 | 1 | 118 | 0.0085 | -21 | c.197 others(40): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60911069 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0109 a0001c0001t0002g0030 a0001c0001t0002g0068 others(7): Show |
10 | 118 | 0.0848 | -21 | c.167 others(42): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RP1L1_chr8_10601349_10660143 | 10608493 | GCTGGGCC others(14): Show |
G | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00733.hp2 HG01109.hp2 others(6): Show |
a0013a0045a0058others(1): Show | a0013c0042a0013c0058a0013c0102others(4): Show | a0013c0042t0003a0013c0058t0003a0013c0102t0003others(4): Show | a0013c0042t0003g0328 a0013c0042t0003g0338 a0013c0058t0003g0367 others(6): Show |
9 | 414 | 0.0217 | -21 | c.558 others(30): Show |
p.Glu others(15): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 4/4 | 5869/8014 | 5584/7203 | 1862/2400 | chr8 | TogoVar | |||
RPA2_chr1_27886524_27919575 | 27918843 | ACAACAAC others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0117 a0001c0001t0008g0182 |
2 | 364 | 0.0055 | -21 | c.-44 others(32): Show |
RPA2 | ENSG00000117748.10 | transcript | ENST00000373912.8 | protein_coding | 4269 | chr1 | TogoVar | |||||||
RPA4_chrX_96878908_96890467 | 96882971 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(69): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 others(1): Show |
72 | 319 | 0.2257 | -21 | c.-13 others(32): Show |
RPA4 | ENSG00000204086.4 | transcript | ENST00000373040.4 | protein_coding | 936 | chrX | TogoVar | |||||||
RPAP1_chr15_41512176_41549257 | 41531619 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0329 | 1 | 414 | 0.0024 | -21 | c.764 others(36): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 6/24 | chr15 | TogoVar | |||||||
RPAP1_chr15_41512176_41549257 | 41531621 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03225.hp1 HG03471.hp1 HG03471.hp2 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0025 a0006c0007t0001g0138 |
3 | 414 | 0.0073 | -21 | c.764 others(36): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 6/24 | chr15 | TogoVar | |||||||
RPAP1_chr15_41512176_41549257 | 41531623 | ATATATTT others(14): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02280.hp2 others(9): Show |
a0004a0006 | a0004c0005a0006c0007 | a0004c0005t0002a0006c0007t0001 | a0004c0005t0002g0139 a0006c0007t0001g0003 a0006c0007t0001g0102 others(3): Show |
12 | 414 | 0.0290 | -21 | c.764 others(36): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 6/24 | chr15 | TogoVar | |||||||
RPAP2_chr1_92294059_92407056 | 92401948 | AGGATTTT others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0095 | 1 | 192 | 0.0052 | -21 | c.*14 others(34): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 13/13 | 14939 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPGRIP1_chr14_21275083_21356301 | 21343866 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG03516.hp1 HG03540.hp2 others(1): Show |
a0003a0005a0027 | a0003c0003a0005c0005a0027c0041 | a0003c0003t0001a0005c0005t0001a0027c0041t0001 | a0003c0003t0001g0006 a0003c0003t0001g0186 a0005c0005t0001g0044 others(1): Show |
4 | 332 | 0.0121 | -21 | c.353 others(38): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGR_chrX_38279408_38332509 | 38286437 | TCCTTCCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG01109.hp1 HG01256.hp1 others(35): Show |
a0003a0006a0014others(5): Show | a0003c0004a0006c0008a0014c0013others(5): Show | a0003c0004t0003a0006c0008t0003a0014c0013t0003others(5): Show | a0003c0004t0003g0016 a0003c0004t0003g0022 a0003c0004t0003g0025 others(25): Show |
38 | 302 | 0.1258 | -21 | c.254 others(30): Show |
p.Glu others(13): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 15/15 | 2703/4733 | 2541/3459 | 847/1152 | chrX | TogoVar | |||
RPH3AL_chr17_207389_357807 | 232846 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG01258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0133 a0001c0001t0002g0010 a0001c0001t0002g0061 others(7): Show |
10 | 133 | 0.0752 | -21 | c.614 others(40): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 241055 | CAATAATA others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(87): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0030 others(87): Show |
90 | 133 | 0.6767 | -21 | c.613 others(38): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 321554 | GCAGAGAT others(14): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01884.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0089 a0001c0001t0002g0069 a0001c0001t0003g0084 others(6): Show |
9 | 133 | 0.0677 | -21 | c.78- others(34): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 321582 | TGGCCCAG others(14): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02165.hp1 HG02698.hp2 others(9): Show |
a0001a0010a0011 | a0001c0001a0010c0010a0011c0014 | a0001c0001t0003a0001c0001t0008a0001c0001t0015others(7): Show | a0001c0001t0003g0034 a0001c0001t0003g0051 a0001c0001t0003g0081 others(9): Show |
12 | 133 | 0.0902 | -21 | c.78- others(34): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
RPL13_chr16_89555682_89569542 | 89562745 | TCAGGGTT others(14): Show |
T | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 386 | 0.0026 | -21 | c.478 others(36): Show |
RPL13 | ENSG00000167526.14 | transcript | ENST00000311528.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |