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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKAG2_chr7_151551127_151882115 | 151842266 | AGGTAGTG others(36): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01106.hp1 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0057 others(58): Show |
61 | 252 | 0.2421 | -43 | c.114 others(62): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCE_chr2_45646675_46192990 | 45744457 | CTTTCTTT others(36): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 168 | 0.0060 | -43 | c.348 others(62): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744492 | TTTCTTTC others(36): Show |
T | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0044 | 1 | 168 | 0.0060 | -43 | c.348 others(62): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2142364 | CAGCAGCC others(36): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 286 | 0.0035 | -43 | c.421 others(60): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2172918 | TGTGTGCG others(36): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 286 | 0.0035 | -43 | c.128 others(60): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKD2_chr19_46669316_46722114 | 46712233 | GACCCTGC others(36): Show |
G | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0355 | 1 | 378 | 0.0027 | -43 | c.380 others(60): Show |
PRKD2 | ENSG00000105287.13 | transcript | ENST00000291281.9 | protein_coding | 2/17 | chr19 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154054 | CGGGGGGC others(36): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0269 | 1 | 378 | 0.0027 | -43 | c.-46 others(54): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4593 | chr13 | TogoVar | |||||||
PRPF19_chr11_60885547_60911585 | 60911041 | GAGGGAGA others(36): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 | 1 | 350 | 0.0029 | -43 | c.-47 others(54): Show |
PRPF19 | ENSG00000110107.9 | transcript | ENST00000227524.9 | protein_coding | 4457 | chr11 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36351456 | TTTATATA others(36): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0009 | a0002c0004t0002g0044 a0002c0004t0009g0073 |
2 | 272 | 0.0074 | -43 | c.-12 others(64): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171488018 | CAGCCCCC others(36): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(267): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0005a0001c0007others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(265): Show |
270 | 336 | 0.8036 | -43 | c.-58 others(60): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151703875 | TTTTTTTT others(36): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0013 | 1 | 336 | 0.0030 | -43 | c.*28 others(54): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2844 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703877 | TTTTTTTT others(36): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0003 a0002c0002t0019g0058 |
2 | 336 | 0.0060 | -43 | c.*28 others(54): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2846 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703879 | TTTTTTTT others(36): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01074.hp1 others(36): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0012a0001c0001t0048others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(17): Show |
39 | 336 | 0.1161 | -43 | c.*28 others(54): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2848 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRG3_chrX_151690458_151710924 | 151703881 | TTTTTTTT others(36): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0056 | a0001c0001t0021g0001 a0001c0001t0056g0001 |
3 | 336 | 0.0089 | -43 | c.*28 others(54): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2850 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18752543 | ATATTATA others(36): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0173 | 1 | 228 | 0.0044 | -43 | c.217 others(64): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865246 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02273.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0012a0001c0001t0050a0001c0002t0038others(1): Show | a0001c0001t0012g0177 a0001c0001t0050g0178 a0001c0002t0038g0125 others(2): Show |
5 | 228 | 0.0219 | -43 | c.163 others(62): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865248 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0025 | 1 | 228 | 0.0044 | -43 | c.163 others(62): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865250 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG02622.hp1 NA20300.hp2 |
a0002 | a0002c0007 | a0002c0007t0002a0002c0007t0021 | a0002c0007t0002g0170 a0002c0007t0021g0003 |
2 | 228 | 0.0088 | -43 | c.163 others(62): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865252 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03491.hp2 HG03654.hp2 |
a0002a0004 | a0002c0007a0004c0009 | a0002c0007t0027a0004c0009t0009a0004c0009t0076 | a0002c0007t0027g0168 a0004c0009t0009g0028 a0004c0009t0076g0155 |
3 | 228 | 0.0132 | -43 | c.163 others(62): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73220886 | ACAGAGAG others(36): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0342 | 1 | 378 | 0.0027 | -43 | c.*15 others(54): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 12/12 | 1598 | chr14 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77641210 | ATTTTTTT others(36): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01256.hp1 HG03239.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0020 a0003c0003t0001g0169 a0003c0003t0001g0170 others(1): Show |
4 | 310 | 0.0129 | -43 | c.*19 others(54): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 1142 | chr7 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214436799 | AAAAAAAA others(36): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(79): Show | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(121): Show |
124 | 272 | 0.4559 | -43 | c.344 others(62): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
PTPN18_chr2_130351056_130380405 | 130364727 | CGGAGCTT others(36): Show |
C | intron_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0217 | 1 | 380 | 0.0026 | -43 | c.415 others(60): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPRR_chr12_70633079_70925738 | 70733439 | AAAAAAAG others(36): Show |
A | intron_variant | MODIFIER | HG01993.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0030 |
2 | 204 | 0.0098 | -43 | c.100 others(64): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 6/13 | chr12 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42634018 | ATATAATA others(36): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0016 | a0002c0016t0030 | a0002c0016t0030g0014 | 1 | 62 | 0.0161 | -43 | c.115 others(64): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PTTG1IP_chr21_44844598_44878690 | 44866380 | CACACACA others(36): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0153 a0001c0001t0001g0186 a0001c0001t0003g0001 others(56): Show |
91 | 444 | 0.2050 | -43 | c.116 others(58): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 1/5 | chr21 | TogoVar | |||||||
PTTG1_chr5_160416855_160433739 | 160431574 | ATTGAAAG others(36): Show |
A | downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 468 | 0.0021 | -43 | c.*28 others(54): Show |
PTTG1 | ENSG00000164611.13 | transcript | ENST00000352433.10 | protein_coding | 2836 | chr5 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972260 | AAAGAAAA others(36): Show |
A | intron_variant | MODIFIER | NA18747.hp2 NA19066.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0293 a0001c0002t0004g0311 |
2 | 334 | 0.0060 | -43 | c.150 others(62): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PWWP3A_chr19_1349959_1383429 | 1368844 | TTCGGGTC others(36): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(194): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0225 a0001c0001t0002g0145 a0001c0001t0002g0146 others(144): Show |
197 | 412 | 0.4782 | -43 | c.142 others(60): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PWWP3A_chr19_1349959_1383429 | 1368918 | CCAGCCCA others(36): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(144): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0013others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0167 a0001c0001t0001g0187 a0001c0001t0001g0281 others(104): Show |
147 | 412 | 0.3568 | -43 | c.142 others(60): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51534597 | CAGCCGCC others(36): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02818.hp2 others(4): Show |
a0004a0006a0022others(1): Show | a0004c0041a0006c0006a0022c0042others(1): Show | a0004c0041t0001a0006c0006t0001a0022c0042t0001others(1): Show | a0004c0041t0001g0057 a0006c0006t0001g0042 a0006c0006t0001g0043 others(4): Show |
7 | 122 | 0.0574 | -43 | c.380 others(62): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1639995 | GCCCCGGG others(36): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(97): Show |
a0001a0004a0006others(4): Show | a0001c0001a0001c0003a0001c0013others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0034 others(97): Show |
100 | 322 | 0.3106 | -43 | c.395 others(60): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 19/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703185 | ACAACTCC others(36): Show |
A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 322 | 0.0031 | -43 | c.201 others(62): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1746042 | CTATCCAC others(36): Show |
C | upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 322 | 0.0031 | -43 | c.-16 others(54): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1528 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1746761 | ACACTCAA others(36): Show |
A | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 322 | 0.0031 | -43 | c.-23 others(54): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 2247 | chr2 | TogoVar | |||||||
PXN_chr12_120205447_120270730 | 120230015 | TGCATTCT others(36): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 324 | 0.0031 | -43 | c.14- others(58): Show |
PXN | ENSG00000089159.17 | transcript | ENST00000637617.2 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
QRFPR_chr4_121323642_121386018 | 121365549 | TAATATAT others(36): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(117): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0019a0001c0007t0018others(5): Show | a0001c0001t0001g0064 a0001c0001t0019g0078 a0001c0001t0019g0121 others(105): Show |
120 | 384 | 0.3125 | -43 | c.340 others(62): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136234034 | AGGACAAA others(36): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0002t0014 | a0001c0001t0031g0209 a0001c0001t0031g0305 a0001c0002t0014g0010 others(4): Show |
8 | 392 | 0.0204 | -43 | c.329 others(60): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
R3HDML_chr20_44332043_44356238 | 44351244 | AACCTGGC others(36): Show |
A | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 434 | 0.0023 | -43 | c.*45 others(52): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 7 | chr20 | TogoVar | |||||||
RAB15_chr14_64940816_64977336 | 64961041 | ATGTTATC others(36): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0184 | 1 | 382 | 0.0026 | -43 | c.125 others(60): Show |
RAB15 | ENSG00000139998.16 | transcript | ENST00000533601.7 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58729739 | TTATATTT others(36): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(10): Show | a0001c0001t0002g0060 a0001c0001t0004g0119 a0001c0001t0004g0188 others(13): Show |
16 | 220 | 0.0727 | -43 | c.371 others(60): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82676224 | TCACACAC others(36): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01069.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0255 a0001c0001t0002g0078 a0001c0001t0002g0293 others(21): Show |
24 | 338 | 0.0710 | -43 | c.143 others(62): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82691993 | AGCAGAGC others(36): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG03017.hp2 HG03225.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(7): Show |
10 | 338 | 0.0296 | -43 | c.142 others(60): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5A_chr3_19942097_19990175 | 19984942 | CCTTCCTT others(36): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0253 | 1 | 348 | 0.0029 | -43 | c.*11 others(54): Show |
RAB5A | ENSG00000144566.11 | transcript | ENST00000273047.9 | protein_coding | 6/6 | 1120 | chr3 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609196 | CACACACG others(36): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0305 | 1 | 398 | 0.0025 | -43 | c.219 others(58): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | chr20 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136825617 | ATGTGGTC others(36): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 330 | 0.0030 | -43 | c.266 others(58): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 2/14 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136833136 | GCCTGGGT others(36): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 330 | 0.0030 | -43 | c.705 others(58): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RAPGEF1_chr9_131571775_131745076 | 131726595 | CAGCCTGG others(36): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0207 others(72): Show |
76 | 368 | 0.2065 | -43 | c.61+ others(60): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 1/26 | chr9 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114103674 | CCCACCCC others(36): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 67 | 0.0149 | -43 | c.55+ others(60): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114103682 | TGATGACA others(36): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01943.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0033 others(18): Show |
21 | 67 | 0.3134 | -43 | c.55+ others(60): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar |