| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PUM1_chr1_30926506_31070717 | 30999606 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp2 others(60): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0065others(60): Show | 63 | 334 | 0.1886 | -9 | c.721 others(26): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 5/21 | chr1 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 31056609 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(81): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0035a0001c0001t0001g0063a0001c0001t0001g0065others(81): Show | 84 | 334 | 0.2515 | -9 | c.363 others(26): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
| PUS7_chr7_105451503_105527271 | 105467034 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG01891.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0238a0001c0001t0001g0270a0001c0003t0003g0219others(3): Show | 6 | 350 | 0.0171 | -9 | c.152 others(28): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 12/15 | chr7 | TogoVar | ||||||
| PUS7_chr7_105451503_105527271 | 105496761 | AAAGTATT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(158): Show | 161 | 350 | 0.4600 | -9 | c.731 others(26): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 5/15 | chr7 | TogoVar | ||||||
| PVALB_chr22_36795703_36822035 | 36821802 | TGTTTGTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0239a0001c0001t0002g0026a0001c0001t0002g0048others(4): Show | 9 | 421 | 0.0214 | -9 | c.-48 others(20): Show |
PVALB | ENSG00000100362.13 | transcript | ENST00000417718.7 | protein_coding | 4768 | chr22 | TogoVar | ||||||
| PVR_chr19_44638910_44671162 | 44668476 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0003g0204a0001c0001t0008g0020a0001c0001t0009g0001others(5): Show | 8 | 412 | 0.0194 | -9 | c.*66 others(20): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2315 | chr19 | TogoVar | ||||||
| PWWP2A_chr5_160086339_160124450 | 160109769 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00621.hp2 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0023a0001c0001t0002g0206a0001c0001t0002g0207others(12): Show | 15 | 384 | 0.0391 | -9 | c.584 others(26): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
| PWWP2A_chr5_160086339_160124450 | 160109771 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01167.hp2 HG01975.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0216a0001c0001t0002g0217a0001c0001t0002g0218others(10): Show | 13 | 384 | 0.0339 | -9 | c.584 others(26): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
| PWWP3A_chr19_1349959_1383429 | 1375521 | CATATAAT others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02895.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0250a0001c0001t0006g0282a0001c0001t0006g0283others(1): Show | 4 | 412 | 0.0097 | -9 | c.207 others(26): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PXDNL_chr8_51314577_51814445 | 51338182 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01109.hp1 others(29): Show |
a0002a0005a0007others(9): Show | a0002c0002a0002c0021a0002c0037others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(15): Show | a0002c0002t0001g0023a0002c0002t0001g0028a0002c0002t0001g0039others(29): Show | 32 | 122 | 0.2623 | -9 | c.414 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 21/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51433209 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02897.hp1 HG03209.hp1 others(1): Show |
a0009a0019a0032 | a0009c0012a0009c0045a0019c0047others(1): Show | a0009c0012t0003a0009c0045t0001a0019c0047t0001others(1): Show | a0009c0012t0003g0012a0009c0045t0001g0052a0019c0047t0001g0074others(1): Show | 4 | 122 | 0.0328 | -9 | c.152 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 12/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51486783 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098a0001c0001t0002g0114 | 2 | 122 | 0.0164 | -9 | c.453 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51505330 | TGCTGGTA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(61): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0046a0002c0002others(26): Show | a0001c0001t0002a0001c0001t0003a0001c0046t0001others(33): Show | a0001c0001t0002g0097a0001c0001t0002g0101a0001c0001t0002g0110others(61): Show | 64 | 122 | 0.5246 | -9 | c.381 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51577907 | GAGAAAGA others(2): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG02818.hp2 |
a0003a0004 | a0003c0003a0003c0033a0004c0041 | a0003c0003t0001a0003c0033t0001a0004c0041t0001 | a0003c0003t0001g0051a0003c0033t0001g0035a0004c0041t0001g0057 | 3 | 122 | 0.0246 | -9 | c.308 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51634905 | GAATCATA others(2): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01167.hp2 others(22): Show |
a0001a0002a0003others(12): Show | a0001c0011a0002c0002a0003c0005others(13): Show | a0001c0011t0003a0002c0002t0001a0002c0002t0003others(16): Show | a0001c0011t0003g0008a0002c0002t0001g0067a0002c0002t0001g0068others(22): Show | 25 | 122 | 0.2049 | -9 | c.236 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51744956 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03098.hp2 |
a0002a0015 | a0002c0002a0015c0025 | a0002c0002t0001a0015c0025t0001 | a0002c0002t0001g0028a0015c0025t0001g0027 | 2 | 122 | 0.0164 | -9 | c.164 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1652492 | TCTCCCCA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(169): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0052a0001c0001t0001g0106a0001c0001t0001g0126others(169): Show | 172 | 322 | 0.5342 | -9 | c.210 others(28): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 16/22 | chr2 | TogoVar | ||||||
| PXT1_chr6_36385551_36447854 | 36427742 | TGCACTTA others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01167.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0152a0001c0001t0001g0153others(13): Show | 18 | 390 | 0.0462 | -9 | c.-9- others(24): Show |
PXT1 | ENSG00000179165.12 | transcript | ENST00000454782.3 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
| PYGO1_chr15_55533884_55593345 | 55552361 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01943.hp1 HG01981.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0039others(2): Show | a0001c0001t0002g0004a0001c0001t0007g0057a0001c0001t0007g0076others(11): Show | 15 | 412 | 0.0364 | -9 | c.50- others(24): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
| PYROXD2_chr10_98378568_98420182 | 98382408 | TGACAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(271): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0004a0001c0011others(12): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(191): Show | 274 | 418 | 0.6555 | -9 | c.*13 others(20): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 1159 | chr10 | TogoVar | ||||||
| PYY_chr17_43947733_43958940 | 43950519 | CCCTAAAC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02572.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0009a0003c0003t0001g0005 | 13 | 364 | 0.0357 | -9 | c.*24 others(20): Show |
PYY | ENSG00000131096.11 | transcript | ENST00000692052.1 | protein_coding | 2213 | chr17 | TogoVar | ||||||
| QKI_chr6_163409718_163583592 | 163510217 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(32): Show | a0001c0001t0001g0071a0001c0001t0001g0105a0001c0001t0001g0106others(82): Show | 85 | 302 | 0.2815 | -9 | c.403 others(28): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| QPCT_chr2_37339630_37378322 | 37345231 | GGGGCCGC others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 NA18947.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0019a0001c0001t0001g0030a0001c0001t0001g0237others(5): Show | 11 | 442 | 0.0249 | -9 | c.120 others(24): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| QRFPR_chr4_121323642_121386018 | 121365657 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(126): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0064a0001c0001t0002g0213a0001c0001t0002g0214others(113): Show | 129 | 384 | 0.3359 | -9 | c.340 others(28): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
| QRICH2_chr17_76269049_76313276 | 76284168 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(113): Show |
a0001a0002a0006others(14): Show | a0001c0001a0001c0005a0002c0002others(20): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(20): Show | a0001c0001t0001g0115a0001c0001t0001g0187a0001c0005t0001g0002others(110): Show | 116 | 364 | 0.3187 | -9 | c.401 others(28): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | ||||||
| QRSL1_chr6_106624578_106673417 | 106654467 | TATTTTCC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(68): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0007a0001c0002t0004a0001c0002t0008others(4): Show | a0001c0001t0007g0122a0001c0001t0007g0126a0001c0002t0004g0001others(54): Show | 71 | 422 | 0.1683 | -9 | c.850 others(24): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| QSOX2_chr9_136201333_136250812 | 136231924 | TCTCCGCC others(2): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02572.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0013a0001c0001t0033a0001c0017t0013 | a0001c0001t0013g0023a0001c0001t0013g0024a0001c0001t0013g0185others(3): Show | 8 | 392 | 0.0204 | -9 | c.329 others(26): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
| QSOX2_chr9_136201333_136250812 | 136231931 | CTCCTCCG others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0063 | a0001c0001t0034g0206a0001c0001t0034g0208a0001c0001t0063g0207 | 3 | 392 | 0.0077 | -9 | c.329 others(26): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
| R3HCC1L_chr10_98129657_98249897 | 98234088 | CTCCTCTG others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(55): Show |
a0001a0014 | a0001c0001a0014c0016 | a0001c0001t0001a0001c0001t0008a0014c0016t0001 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0013others(48): Show | 58 | 388 | 0.1495 | -9 | c.196 others(26): Show |
R3HCC1L | ENSG00000166024.14 | transcript | ENST00000298999.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| R3HDM1_chr2_135526484_135730269 | 135537277 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206a0001c0001t0001g0207a0001c0001t0001g0208others(3): Show | 6 | 232 | 0.0259 | -9 | c.-25 others(28): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| R3HDM1_chr2_135526484_135730269 | 135565322 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(17): Show |
a0001a0009a0010others(1): Show | a0001c0001a0009c0009a0010c0012others(1): Show | a0001c0001t0001a0009c0009t0001a0010c0012t0001others(1): Show | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214others(17): Show | 20 | 232 | 0.0862 | -9 | c.-25 others(30): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| R3HDM1_chr2_135526484_135730269 | 135727442 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01261.hp2 others(30): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(30): Show | 33 | 232 | 0.1422 | -9 | c.*31 others(20): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2174 | chr2 | TogoVar | ||||||
| R3HDM2_chr12_57248764_57436043 | 57348715 | AAAAAAAG others(2): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG02683.hp1 HG03195.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0328a0001c0002t0002g0040a0001c0002t0002g0050others(5): Show | 8 | 336 | 0.0238 | -9 | c.-35 others(28): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
| R3HDM2_chr12_57248764_57436043 | 57349379 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG03490.hp2 NA18940.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0246a0001c0001t0001g0253a0001c0001t0001g0256others(5): Show | 8 | 336 | 0.0238 | -9 | c.-35 others(28): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
| R3HDM2_chr12_57248764_57436043 | 57371083 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0194a0001c0001t0001g0195others(3): Show | 6 | 336 | 0.0179 | -9 | c.-36 others(28): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
| R3HDML_chr20_44332043_44356238 | 44348473 | TTTCCCTT others(2): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01975.hp2 HG03927.hp1 |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0002t0001a0005c0008t0001 | a0001c0001t0001g0042a0001c0002t0001g0157a0005c0008t0001g0042 | 3 | 434 | 0.0069 | -9 | c.630 others(26): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RAB10_chr2_26029084_26142454 | 26098105 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG01255.hp1 NA18965.hp1 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108a0001c0001t0002g0111a0001c0001t0002g0114others(2): Show | 5 | 212 | 0.0236 | -9 | c.128 others(24): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAB11B_chr19_8385360_8409434 | 8405259 | ACCTGGGC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01975.hp2 HG03669.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0019a0001c0001t0001g0032a0001c0001t0001g0081others(1): Show | 7 | 428 | 0.0164 | -9 | c.*17 others(20): Show |
RAB11B | ENSG00000185236.12 | transcript | ENST00000328024.11 | protein_coding | 826 | chr19 | TogoVar | ||||||
| RAB11FIP2_chr10_117999916_118051941 | 118046571 | AGCCTCCG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0024a0001c0001t0049others(1): Show | a0001c0001t0015g0025a0001c0001t0015g0230a0001c0001t0024g0232others(3): Show | 8 | 400 | 0.0200 | -9 | c.-41 others(18): Show |
RAB11FIP2 | ENSG00000107560.12 | transcript | ENST00000355624.8 | protein_coding | 1/5 | 409 | chr10 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 463430 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0036 | a0001c0001t0013g0026a0001c0001t0013g0027a0001c0001t0013g0028others(4): Show | 7 | 295 | 0.0237 | -9 | c.808 others(26): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP4_chr17_31386675_31543211 | 31450321 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(68): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0041a0001c0001t0001g0065a0001c0001t0001g0071others(68): Show | 71 | 310 | 0.2290 | -9 | c.336 others(28): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAB12_chr18_8604437_8644383 | 8632281 | CCAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01123.hp1 HG01257.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0040others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0020a0001c0001t0001g0028others(13): Show | 24 | 404 | 0.0594 | -9 | c.576 others(24): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
| RAB12_chr18_8604437_8644383 | 8639147 | CTTTTTTT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01168.hp1 HG01256.hp1 HG01361.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0033 | a0001c0001t0026g0005a0001c0001t0026g0007a0001c0001t0026g0069others(4): Show | 7 | 404 | 0.0173 | -9 | c.*92 others(18): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 922 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
| RAB18_chr10_27499304_27547239 | 27520916 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0043others(2): Show | a0001c0001t0005g0008a0001c0001t0005g0011a0001c0001t0005g0021others(30): Show | 47 | 410 | 0.1146 | -9 | c.125 others(26): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| RAB19_chr7_140399058_140432974 | 140407880 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01081.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0025a0001c0001t0001g0158a0001c0001t0001g0160others(3): Show | 6 | 442 | 0.0136 | -9 | c.201 others(22): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| RAB1A_chr2_65081854_65135106 | 65104855 | CTATAAGC others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02257.hp1 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0043others(18): Show | 21 | 340 | 0.0618 | -9 | c.24- others(20): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
| RAB1A_chr2_65081854_65135106 | 65122155 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02257.hp1 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0040others(18): Show | 21 | 340 | 0.0618 | -9 | c.23+ others(24): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
| RAB1A_chr2_65081854_65135106 | 65125864 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0001g0234others(5): Show | 8 | 340 | 0.0235 | -9 | c.23+ others(24): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
| RAB1B_chr11_66263639_66282492 | 66270233 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02976.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0111a0001c0001t0001g0114 | 3 | 426 | 0.0070 | -9 | c.15- others(24): Show |
RAB1B | ENSG00000174903.16 | transcript | ENST00000311481.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| RAB20_chr13_110518066_110566722 | 110524812 | AGGACACA others(2): Show |
A | intron_variant | MODIFIER | HG02071.hp2 HG02132.hp2 NA19091.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044a0001c0003t0001g0209a0001c0003t0001g0211 | 3 | 426 | 0.0070 | -9 | c.173 others(24): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar |