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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRDM15_chr21_41793225_41884344 | 41799685 | TTGTTCTG others(38): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0101 | 1 | 406 | 0.0025 | -45 | c.*15 others(56): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 24/24 | 1510 | chr21 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151855285 | ACCCTCCA others(38): Show |
A | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 252 | 0.0040 | -45 | c.114 others(64): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66798465 | TGGTGGTG others(38): Show |
T | intron_variant | MODIFIER | HG02976.hp1 NA18945.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0019a0001c0003t0004 | a0001c0002t0019g0096 a0001c0003t0004g0079 |
2 | 178 | 0.0112 | -45 | c.185 others(64): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799101 | TGGTGATG others(38): Show |
T | intron_variant | MODIFIER | NA19030.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0011a0001c0004t0046 | a0001c0003t0011g0152 a0001c0004t0046g0159 |
2 | 178 | 0.0112 | -45 | c.185 others(64): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744459 | TTCTTTCT others(38): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 168 | 0.0060 | -45 | c.348 others(64): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744467 | TTCTTTCT others(38): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0007g0095 a0001c0001t0010g0057 others(1): Show |
4 | 168 | 0.0238 | -45 | c.348 others(64): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744471 | TTCTTTCT others(38): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01255.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0090 a0001c0001t0002g0043 a0001c0001t0003g0051 others(3): Show |
6 | 168 | 0.0357 | -45 | c.348 others(64): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906054 | CCTCCTCC others(38): Show |
C | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0318 | 1 | 362 | 0.0028 | -45 | c.176 others(62): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123427 | GGTGGTTA others(38): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01358.hp1 HG03239.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0002t0001g0167 others(1): Show |
4 | 286 | 0.0140 | -45 | c.335 others(64): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123442 | GGCGGTGG others(38): Show |
G | intron_variant | MODIFIER | NA18947.hp2 NA18954.hp2 NA18975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0074 others(2): Show |
5 | 286 | 0.0175 | -45 | c.335 others(64): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRLR_chr5_35050702_35235487 | 35196035 | TAAATAAA others(38): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(4): Show | a0001c0001t0002g0061 a0001c0001t0004g0163 a0001c0001t0016g0114 others(4): Show |
7 | 214 | 0.0327 | -45 | c.-10 others(66): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
PROK1_chr1_110446149_110462358 | 110458039 | CTTTTTTT others(38): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02818.hp2 others(10): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0002a0002c0002t0001a0007c0008t0002 | a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 others(3): Show |
13 | 456 | 0.0285 | -45 | c.*16 others(56): Show |
PROK1 | ENSG00000143125.6 | transcript | ENST00000271331.4 | protein_coding | 682 | chr1 | TogoVar | |||||||
PROX2_chr14_74848033_74881145 | 74855877 | CCACCCTA others(38): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0322 | 1 | 384 | 0.0026 | -45 | c.160 others(62): Show |
PROX2 | ENSG00000119608.15 | transcript | ENST00000556489.4 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
PRPF6_chr20_63976132_64038100 | 64021478 | GTATGCCT others(38): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0067 | 1 | 294 | 0.0034 | -45 | c.164 others(64): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151703877 | TTTTTTTT others(38): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0152 | a0001c0001t0152g0056 | 1 | 336 | 0.0030 | -45 | c.*28 others(56): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2846 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18865246 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | NA18981.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0049 a0001c0001t0029g0098 |
2 | 228 | 0.0088 | -45 | c.163 others(64): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865250 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0047 | 1 | 228 | 0.0044 | -45 | c.163 others(64): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSMB6_chr17_4791164_4803495 | 4792025 | ATGTTGTA others(38): Show |
A | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 454 | 0.0022 | -45 | c.-41 others(56): Show |
PSMB6 | ENSG00000142507.10 | transcript | ENST00000270586.8 | protein_coding | 4138 | chr17 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112277901 | CATAACAT others(38): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 342 | 0.0029 | -45 | c.35- others(60): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 2/13 | chr9 | TogoVar | |||||||
PTPRR_chr12_70633079_70925738 | 70733437 | AAAAAAAA others(38): Show |
A | intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0142 | 1 | 204 | 0.0049 | -45 | c.100 others(66): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 6/13 | chr12 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132401382 | TCTTCCCC others(38): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 2 | 374 | 0.0054 | -45 | c.126 others(62): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132692700 | TAGTTAGT others(38): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0004a0001c0004t0005a0001c0005t0005 | a0001c0004t0004g0027 a0001c0004t0004g0078 a0001c0004t0004g0079 others(3): Show |
9 | 350 | 0.0257 | -45 | c.236 others(62): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132693138 | CAGTTAGT others(38): Show |
C | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0157 | 1 | 350 | 0.0029 | -45 | c.237 others(62): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132693878 | AGCCAGTT others(38): Show |
A | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0157 | 1 | 350 | 0.0029 | -45 | c.237 others(62): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121365567 | ATATATAA others(38): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 a0001c0001t0002g0237 |
2 | 384 | 0.0052 | -45 | c.340 others(64): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QRFPR_chr4_121323642_121386018 | 121365612 | TTATATAT others(38): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0268 | 1 | 384 | 0.0026 | -45 | c.340 others(64): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
RAB11FIP4_chr17_31386675_31543211 | 31445540 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02615.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0006 | a0001c0001t0003a0001c0001t0014a0001c0001t0055others(3): Show | a0001c0001t0003g0177 a0001c0001t0014g0303 a0001c0001t0055g0030 others(5): Show |
8 | 310 | 0.0258 | -45 | c.336 others(64): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445542 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03486.hp2 |
a0001a0002 | a0001c0007a0002c0006 | a0001c0007t0049a0002c0006t0011 | a0001c0007t0049g0276 a0002c0006t0011g0155 |
2 | 310 | 0.0065 | -45 | c.336 others(64): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445544 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0209 | 1 | 310 | 0.0032 | -45 | c.336 others(64): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58693223 | GTTAAGAT others(38): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0105 | 1 | 220 | 0.0046 | -45 | c.253 others(64): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RANBP17_chr5_170857018_171305015 | 170866281 | TACAGGAG others(38): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02717.hp2 others(3): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0001c0001t0002a0009c0012t0001 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(3): Show |
6 | 192 | 0.0313 | -45 | c.18+ others(60): Show |
RANBP17 | ENSG00000204764.14 | transcript | ENST00000523189.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAP1GAP2_chr17_2791438_3042741 | 2964206 | GTGGGGGT others(38): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0081 | 1 | 218 | 0.0046 | -45 | c.492 others(60): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAP1GAP2_chr17_2791438_3042741 | 2964223 | AGAGGCTG others(38): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02258.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0005a0001c0007a0001c0013others(1): Show | a0001c0005t0030a0001c0005t0127a0001c0007t0026others(3): Show | a0001c0005t0030g0196 a0001c0005t0127g0072 a0001c0007t0026g0161 others(3): Show |
6 | 218 | 0.0275 | -45 | c.492 others(60): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114044153 | CCCGCCCC others(38): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0007 | 1 | 67 | 0.0149 | -45 | c.278 others(62): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RASGRF2_chr5_80955363_81235162 | 81169952 | CCACCTGC others(38): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0011a0001c0002t0001others(1): Show | a0001c0001t0003g0138 a0001c0001t0011g0137 a0001c0002t0001g0055 others(3): Show |
6 | 276 | 0.0217 | -45 | c.268 others(66): Show |
RASGRF2 | ENSG00000113319.13 | transcript | ENST00000265080.9 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7229652 | AGGGAGGA others(38): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0011 | 1 | 68 | 0.0147 | -45 | c.27+ others(64): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7504757 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0027 | 1 | 234 | 0.0043 | -45 | c.88- others(62): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35945356 | CACAGGAA others(38): Show |
C | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 120 | 0.0083 | -45 | c.187 others(62): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79579842 | GCTGTGGT others(38): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0109 | 1 | 154 | 0.0065 | -45 | c.-32 others(66): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBM28_chr7_128292685_128348908 | 128316063 | CTTTCACC others(38): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(84): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0005a0008c0013others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(73): Show |
87 | 382 | 0.2278 | -45 | c.178 others(64): Show |
RBM28 | ENSG00000106344.8 | transcript | ENST00000223073.6 | protein_coding | 16/18 | chr7 | TogoVar | |||||||
RBM42_chr19_35624036_35642685 | 35639799 | GGGAAGGG others(38): Show |
G | downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -45 | c.*22 others(56): Show |
RBM42 | ENSG00000126254.12 | transcript | ENST00000262633.9 | protein_coding | 2115 | chr19 | TogoVar | |||||||
RBM47_chr4_40418280_40634864 | 40423668 | CTTTCTTT others(38): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0141 | a0001c0001t0141g0277 | 1 | 278 | 0.0036 | -45 | c.*21 others(56): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 7/7 | 2191 | chr4 | TogoVar | ||||||
RCC1L_chr7_75037183_75078802 | 75053115 | GGGGCTGG others(38): Show |
G | intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0034 | 1 | 270 | 0.0037 | -45 | c.123 others(62): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37669189 | GGGGTCAG others(38): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0068 | a0001c0001t0004g0075 a0001c0001t0013g0052 a0001c0001t0013g0076 others(1): Show |
4 | 324 | 0.0124 | -45 | c.88+ others(62): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
REXO1_chr19_1810248_1853483 | 1818929 | GGGCCCAC others(38): Show |
G | intron_variant | MODIFIER | HG03209.hp1 NA18984.hp2 |
a0001a0016 | a0001c0001a0016c0031 | a0001c0001t0001a0016c0031t0001 | a0001c0001t0001g0211 a0016c0031t0001g0150 |
2 | 380 | 0.0053 | -45 | c.276 others(60): Show |
REXO1 | ENSG00000079313.15 | transcript | ENST00000170168.9 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39346331 | CCAGGCGT others(38): Show |
C | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 276 | 0.0036 | -45 | c.133 others(60): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RFC3_chr13_33813149_33842500 | 33834284 | CATCTGTA others(38): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0122 | 1 | 416 | 0.0024 | -45 | c.810 others(60): Show |
RFC3 | ENSG00000133119.13 | transcript | ENST00000380071.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RFC4_chr3_186784900_186811482 | 186808272 | GGCACCAT others(38): Show |
G | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 432 | 0.0023 | -45 | c.-20 others(56): Show |
RFC4 | ENSG00000163918.12 | transcript | ENST00000296273.7 | protein_coding | 1791 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16404002 | TTATATAT others(38): Show |
T | intron_variant | MODIFIER | NA18952.hp1 NA18957.hp2 NA18961.hp1 others(2): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0002a0004c0006t0002 | a0001c0002t0002g0251 a0004c0006t0002g0002 a0004c0006t0002g0003 others(2): Show |
5 | 268 | 0.0187 | -45 | c.441 others(62): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197680097 | TTTTTTCT others(38): Show |
T | upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 312 | 0.0032 | -45 | c.-46 others(56): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 4511 | chr2 | TogoVar |