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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PWWP3B_chrX_106163305_106213956 | 106209275 | CATACCTT others(71): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 248 | 0.0040 | -78 | c.*17 others(89): Show |
PWWP3B | ENSG00000157502.13 | transcript | ENST00000357175.6 | protein_coding | 320 | chrX | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51534987 | CGGCCAGC others(71): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01167.hp1 others(18): Show |
a0001a0003a0010others(6): Show | a0001c0001a0003c0003a0003c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0019 a0001c0001t0002g0095 a0001c0001t0002g0096 others(18): Show |
21 | 122 | 0.1721 | -78 | c.380 others(97): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132688597 | AAAGACAG others(71): Show |
A | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 350 | 0.0029 | -78 | c.122 others(93): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132688629 | TGCGGGTG others(71): Show |
T | intron_variant | MODIFIER | HG03017.hp1 HG03492.hp1 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0085 a0001c0001t0001g0086 others(1): Show |
4 | 350 | 0.0114 | -78 | c.122 others(95): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135645133 | CCAGTACC others(71): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
a0001a0006a0010 | a0001c0001a0006c0005a0010c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | 232 | 0.1422 | -78 | c.147 others(95): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 15/26 | chr2 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458395 | AGGGGGCC others(71): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0021 | 1 | 295 | 0.0034 | -78 | c.715 others(95): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60548173 | AGGCAGAG others(71): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01070.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(4): Show | a0001c0001t0002g0130 a0001c0001t0005g0280 a0001c0001t0005g0281 others(33): Show |
36 | 358 | 0.1006 | -78 | c.47- others(95): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60548286 | CGGGGCGG others(71): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00735.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0088 others(18): Show |
21 | 358 | 0.0587 | -78 | c.47- others(95): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5304385 | GCCTGGCT others(71): Show |
G | intron_variant | MODIFIER | HG00423.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
2 | 352 | 0.0057 | -78 | c.35- others(93): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RABIF_chr1_202873282_202894149 | 202874551 | ATCTTTGA others(71): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0141 | 1 | 426 | 0.0024 | -78 | c.*63 others(89): Show |
RABIF | ENSG00000183155.5 | transcript | ENST00000367262.4 | protein_coding | 3730 | chr1 | TogoVar | |||||||
RALGDS_chr9_133092722_133126240 | 133105816 | GCCGCCCC others(71): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0242 | 1 | 424 | 0.0024 | -78 | c.160 others(94): Show |
RALGDS | ENSG00000160271.16 | transcript | ENST00000372050.8 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
RALGDS_chr9_133092722_133126240 | 133123874 | GCACACAG others(71): Show |
G | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0084 | 1 | 424 | 0.0024 | -78 | c.-27 others(89): Show |
RALGDS | ENSG00000160271.16 | transcript | ENST00000372050.8 | protein_coding | 2635 | chr9 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7186239 | TATATAAA others(71): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0042 | 1 | 68 | 0.0147 | -78 | c.27+ others(97): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBM19_chr12_113817057_113971325 | 113872587 | CCTGCCCG others(71): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG04204.hp1 NA18946.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0179 a0001c0004t0004g0180 a0001c0004t0004g0195 |
3 | 356 | 0.0084 | -78 | c.255 others(99): Show |
RBM19 | ENSG00000122965.11 | transcript | ENST00000261741.10 | protein_coding | 21/23 | chr12 | TogoVar | |||||||
RBM5_chr3_50083919_50124021 | 50084601 | CCCTCCCG others(71): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0210 a0001c0001t0001g0213 others(2): Show |
7 | 284 | 0.0247 | -78 | c.-44 others(89): Show |
RBM5 | ENSG00000003756.17 | transcript | ENST00000347869.8 | protein_coding | 4317 | chr3 | TogoVar | |||||||
RCOR1_chr14_102587649_102735561 | 102676939 | TGGCCGGG others(71): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0147 | 1 | 292 | 0.0034 | -78 | c.362 others(95): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8668946 | GTGTGTGT others(71): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 HG03471.hp1 others(2): Show |
a0001a0005a0007 | a0001c0001a0001c0003a0005c0013others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0003t0017others(2): Show | a0001c0001t0001g0069 a0001c0003t0004g0068 a0001c0003t0017g0032 others(2): Show |
5 | 204 | 0.0245 | -78 | c.-14 others(99): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111422577 | CACATATA others(71): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0003 | a0004c0003t0006 | a0004c0003t0006g0015 | 1 | 288 | 0.0035 | -78 | c.140 others(95): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
RFC4_chr3_186784900_186811482 | 186811404 | GTGGCCGG others(71): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0052 others(14): Show |
32 | 432 | 0.0741 | -78 | c.-52 others(89): Show |
RFC4 | ENSG00000163918.12 | transcript | ENST00000296273.7 | protein_coding | 4923 | chr3 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56110156 | CGCCTGGC others(71): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0218 | 1 | 360 | 0.0028 | -78 | c.402 others(95): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56110443 | CGCCCCAT others(71): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(83): Show |
a0001a0009 | a0001c0002a0001c0004a0001c0017others(1): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0026others(5): Show | a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0043 others(83): Show |
86 | 360 | 0.2389 | -78 | c.402 others(95): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56110608 | CACCCGGC others(71): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0124 | 1 | 360 | 0.0028 | -78 | c.402 others(95): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56110785 | CACCCGGC others(71): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp2 |
a0001 | a0001c0004 | a0001c0004t0049a0001c0004t0050 | a0001c0004t0049g0254 a0001c0004t0050g0253 |
2 | 360 | 0.0056 | -78 | c.402 others(95): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
RGS7BP_chr5_64501015_64617319 | 64551096 | ACAAGTCA others(71): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0098 | 1 | 280 | 0.0036 | -78 | c.333 others(97): Show |
RGS7BP | ENSG00000186479.5 | transcript | ENST00000334025.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RHOD_chr11_67051847_67077017 | 67062468 | GGCCCTTG others(71): Show |
G | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0171 | 1 | 394 | 0.0025 | -78 | c.133 others(95): Show |
RHOD | ENSG00000173156.7 | transcript | ENST00000308831.7 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
RHPN1_chr8_143363876_143389221 | 143373146 | CGTGGGTT others(71): Show |
C | intron_variant | MODIFIER | HG02300.hp2 HG02559.hp2 HG02647.hp1 others(9): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0011 | a0001c0001t0009a0001c0001t0029a0001c0001t0031others(2): Show | a0001c0001t0009g0009 a0001c0001t0009g0027 a0001c0001t0029g0094 others(3): Show |
12 | 426 | 0.0282 | -78 | c.61- others(93): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92639899 | AGGCTGCC others(71): Show |
A | intron_variant | MODIFIER | HG00642.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0263 | 1 | 334 | 0.0030 | -78 | c.441 others(95): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RMDN2_chr2_37920287_38022744 | 37975003 | CCAAATGT others(71): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0120 | 1 | 328 | 0.0031 | -78 | c.628 others(93): Show |
RMDN2 | ENSG00000115841.21 | transcript | ENST00000354545.8 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
RMND1_chr6_151399762_151457126 | 151450408 | GTCAGCCC others(71): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp1 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0369 a0001c0004t0008g0370 |
2 | 392 | 0.0051 | -78 | c.-15 others(95): Show |
RMND1 | ENSG00000155906.20 | transcript | ENST00000444024.3 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
RNF126_chr19_642526_668214 | 667268 | TCCCAGGC others(71): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02717.hp2 HG03831.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0282 a0001c0002t0001g0324 |
3 | 434 | 0.0069 | -78 | c.-42 others(89): Show |
RNF126 | ENSG00000070423.18 | transcript | ENST00000292363.10 | protein_coding | 4055 | chr19 | TogoVar | |||||||
RNF150_chr4_140854807_141138469 | 140940173 | CACAAGCA others(71): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0017 | 1 | 184 | 0.0054 | -78 | c.890 others(95): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80313758 | GTGGTGGA others(71): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0013 | a0013c0020 | a0013c0020t0003 | a0013c0020t0003g0277 | 1 | 292 | 0.0034 | -78 | c.281 others(95): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314829 | ATGGAGGT others(71): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0022 | a0022c0022 | a0022c0022t0012 | a0022c0022t0012g0170 | 1 | 292 | 0.0034 | -78 | c.281 others(97): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNFT2_chr12_116733315_116858631 | 116841818 | AAAATATA others(71): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02109.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(5): Show | a0001c0001t0001g0248 a0001c0001t0005g0245 a0001c0001t0005g0246 others(7): Show |
10 | 268 | 0.0373 | -78 | c.120 others(97): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RNGTT_chr6_88604897_88968618 | 88697999 | CATATATG others(71): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 220 | 0.0046 | -78 | c.144 others(99): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 13/15 | chr6 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77164789 | GCCCCGTC others(71): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 HG02970.hp2 others(4): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(4): Show | a0001c0001t0001g0146 a0001c0001t0002g0105 a0001c0001t0021g0016 others(4): Show |
7 | 160 | 0.0438 | -78 | c.388 others(97): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60816082 | GTATACTG others(71): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG03225.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0001t0036a0001c0001t0047others(1): Show | a0001c0001t0005g0011 a0001c0001t0036g0102 a0001c0001t0047g0023 others(1): Show |
4 | 118 | 0.0339 | -78 | c.167 others(99): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 287317 | TCTCTCCA others(71): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 133 | 0.0075 | -78 | c.352 others(95): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 288299 | TCTCTCCA others(71): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02895.hp2 |
a0001 | a0001c0003 | a0001c0003t0030a0001c0003t0036 | a0001c0003t0030g0122 a0001c0003t0036g0064 |
2 | 133 | 0.0150 | -78 | c.352 others(95): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPS3_chr11_75394518_75411907 | 75409956 | CCCTCCCG others(71): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG01258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 412 | 0.0097 | -78 | c.*43 others(89): Show |
RPS3 | ENSG00000149273.15 | transcript | ENST00000531188.6 | protein_coding | 3050 | chr11 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80666155 | CTCTTCTC others(71): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0012 | a0001c0012t0018 | a0001c0012t0018g0194 | 1 | 196 | 0.0051 | -78 | c.348 others(97): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80681600 | CCTTCATG others(71): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03041.hp2 |
a0001a0002 | a0001c0007a0002c0063 | a0001c0007t0084a0002c0063t0020 | a0001c0007t0084g0007 a0002c0063t0020g0001 |
2 | 196 | 0.0102 | -78 | c.349 others(97): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80681735 | ATGAGGTG others(71): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01516.hp1 HG02109.hp1 others(7): Show |
a0001a0002 | a0001c0005a0001c0012a0001c0018others(5): Show | a0001c0005t0026a0001c0005t0067a0001c0012t0018others(6): Show | a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0012t0018g0194 others(7): Show |
10 | 196 | 0.0510 | -78 | c.349 others(97): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RRP1_chr21_43784577_43810293 | 43787174 | CACCCACT others(71): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(108): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0003a0001c0012others(5): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0018 others(34): Show |
111 | 394 | 0.2817 | -78 | c.-24 others(89): Show |
RRP1 | ENSG00000160214.13 | transcript | ENST00000497547.2 | protein_coding | 2402 | chr21 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16645916 | ATATGTGT others(71): Show |
A | intron_variant | MODIFIER | HG01975.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0055a0001c0002t0019 | a0001c0001t0055g0158 a0001c0002t0019g0004 |
2 | 190 | 0.0105 | -78 | c.731 others(97): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16645956 | ACATATAT others(71): Show |
A | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0046a0001c0002t0004 | a0001c0001t0046g0050 a0001c0002t0004g0043 |
2 | 190 | 0.0105 | -78 | c.731 others(97): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16722855 | TATATACA others(71): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0067 | 1 | 190 | 0.0053 | -78 | c.599 others(97): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59749504 | TATATAGA others(71): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(64): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0005 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(64): Show |
67 | 172 | 0.3895 | -78 | c.242 others(95): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29011654 | CGCCCGGC others(71): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 438 | 0.0023 | -78 | c.68- others(93): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3177739 | ATCGGGCT others(71): Show |
A | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02027.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 9 | 418 | 0.0215 | -78 | c.-10 others(88): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 1029 | chr19 | TogoVar |