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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PEX5_chr12_7184686_7216459 | 7203222 | T | TAGACTAG others(300): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 428 | 0.0023 | 307 | c.847 others(322): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7203222 | T | TAGACTAG others(300): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01978.hp2 HG02027.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0094a0001c0001t0001g0110others(4): Show | 8 | 428 | 0.0187 | 307 | c.847 others(322): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7203222 | T | TAGACTAG others(300): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0018 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0026others(41): Show | 55 | 428 | 0.1285 | 307 | c.847 others(322): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28419029 | T | TCTACTTT others(300): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0171 | 1 | 228 | 0.0044 | 307 | c.16+ others(324): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PIAS4_chr19_4002736_4044386 | 4026295 | G | GCTAATTT others(300): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0171 | 1 | 334 | 0.0030 | 307 | c.540 others(324): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGA others(300): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 312 | 0.0032 | 307 | c.*53 others(318): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88753699 | T | TACACACT others(300): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02723.hp2 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0047a0001c0005t0008g0049 | 2 | 330 | 0.0061 | 307 | c.350 others(324): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLCL1_chr2_197799593_198154863 | 197898724 | T | TTTCCTAG others(300): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0204 | 1 | 204 | 0.0049 | 307 | c.240 others(326): Show |
PLCL1 | ENSG00000115896.17 | transcript | ENST00000428675.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLD4_chr14_104919879_104938236 | 104933730 | G | GCTGAGGG others(300): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0032a0001c0001t0002g0015 | 9 | 426 | 0.0211 | 307 | c.*76 others(316): Show |
PLD4 | ENSG00000166428.14 | transcript | ENST00000392593.9 | protein_coding | 495 | chr14 | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998738 | T | TTATATAT others(300): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 286 | 0.0035 | 307 | c.-50 others(318): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4623 | chrX | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(300): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 312 | 0.0032 | 307 | c.306 others(326): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP3CC_chr8_22436078_22546125 | 22472245 | T | TAAAAGAC others(300): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0217a0001c0001t0004g0218 | 2 | 326 | 0.0061 | 307 | c.50- others(322): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTP4A3_chr8_141387021_141437454 | 141429976 | C | CCCGCTGT others(300): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 323 | 0.0031 | 307 | c.405 others(322): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTPN3_chr9_109370700_109503307 | 109499103 | C | CAAAAATT others(300): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG00741.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0002others(3): Show | a0001c0001t0004a0001c0001t0043a0001c0019t0018others(20): Show | a0001c0001t0004g0095a0001c0001t0043g0002a0001c0019t0018g0269others(26): Show | 29 | 290 | 0.1000 | 307 | c.-90 others(316): Show |
PTPN3 | ENSG00000070159.14 | transcript | ENST00000374541.4 | protein_coding | 797 | chr9 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37359194 | T | TTCTTTTT others(300): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0139 | 1 | 442 | 0.0023 | 307 | c.268 others(322): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB1A_chr2_65081854_65135106 | 65106651 | C | CAAAAATC others(300): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 340 | 0.0029 | 307 | c.24- others(322): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
RAB1A_chr2_65081854_65135106 | 65106651 | C | CAAAAATC others(300): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01884.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0130a0001c0001t0001g0136others(9): Show | 14 | 340 | 0.0412 | 307 | c.24- others(322): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
RAB1A_chr2_65081854_65135106 | 65106651 | C | CAAAAATC others(300): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02896.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151a0001c0001t0001g0153a0001c0001t0001g0154others(1): Show | 4 | 340 | 0.0118 | 307 | c.24- others(322): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84525026 | A | ACGGCCTC others(300): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0027 | 1 | 82 | 0.0122 | 307 | c.-23 others(324): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114099909 | A | ACAGCAGC others(300): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 67 | 0.0149 | 307 | c.56- others(324): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6796061 | C | CAAAAGAA others(300): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03139.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0036 | a0001c0001t0001g0030a0001c0001t0023g0047a0001c0001t0036g0032 | 3 | 68 | 0.0441 | 307 | c.-16 others(328): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7491380 | T | TAAGATTC others(300): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18994.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0034 | a0001c0001t0001g0059a0002c0003t0034g0061 | 2 | 68 | 0.0294 | 307 | c.28- others(324): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_7327845_7718340 | 7491380 | T | TAAGATTC others(300): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01361.hp2 HG02148.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0012others(5): Show | a0001c0001t0001g0158a0001c0001t0001g0166a0001c0002t0002g0073others(8): Show | 11 | 234 | 0.0470 | 307 | c.88- others(324): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBMS2_chr12_56516820_56601193 | 56558297 | C | CGGCCTCC others(300): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0139 | 1 | 280 | 0.0036 | 307 | c.67- others(322): Show |
RBMS2 | ENSG00000076067.14 | transcript | ENST00000262031.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RBMS2_chr12_56516820_56601193 | 56558297 | C | CGGCCTCC others(300): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0245 | 1 | 280 | 0.0036 | 307 | c.67- others(322): Show |
RBMS2 | ENSG00000076067.14 | transcript | ENST00000262031.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RDH13_chr19_55039316_55068148 | 55064835 | A | ACTCCTGT others(300): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0219 | 1 | 377 | 0.0027 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1688 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02257.hp2 HG03209.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0005g0053a0001c0001t0006g0022a0001c0001t0009g0009others(10): Show | 14 | 377 | 0.0371 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0111 | 1 | 377 | 0.0027 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 HG03942.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0007a0002c0003t0002 | a0001c0002t0007g0117a0002c0003t0002g0095 | 2 | 377 | 0.0053 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 377 | 0.0027 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG03195.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0007 | a0001c0002t0001g0028a0001c0004t0007g0114 | 2 | 377 | 0.0053 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001 | a0001c0001t0009g0185a0001c0002t0001g0297 | 2 | 377 | 0.0053 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0230 | 1 | 377 | 0.0027 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0015 | 1 | 377 | 0.0027 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(204): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(41): Show | a0001c0001t0001g0242a0001c0001t0003g0006a0001c0001t0003g0190others(174): Show | 207 | 377 | 0.5491 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01071.hp2 others(26): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(11): Show | a0001c0001t0005g0041a0001c0001t0006g0002a0001c0001t0006g0021others(24): Show | 29 | 377 | 0.0769 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0177 | 1 | 377 | 0.0027 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0003 | 1 | 377 | 0.0027 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0152 | 1 | 377 | 0.0027 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 NA19240.hp1 |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0098a0001c0004t0011g0099 | 2 | 377 | 0.0053 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(300): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG03041.hp2 HG03130.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0003g0006a0001c0002t0001g0246a0001c0002t0004g0214others(4): Show | 8 | 377 | 0.0212 | 307 | c.-18 others(318): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | ||||||
RECQL4_chr8_144506288_144522833 | 144513791 | C | CGTGTGCA others(300): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 412 | 0.0024 | 307 | c.205 others(322): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 12/20 | chr8 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500842 | A | AGGGAGGA others(300): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 318 | 0.0031 | 307 | c.*36 others(318): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2916 | chr19 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341528 | A | ATGGTGTG others(300): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02717.hp1 HG03139.hp2 |
a0003 | a0003c0017a0003c0049 | a0003c0017t0001a0003c0049t0001 | a0003c0017t0001g0255a0003c0017t0001g0256a0003c0049t0001g0253 | 3 | 312 | 0.0096 | 307 | c.188 others(326): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RIMS1_chr6_71881550_72408145 | 72043662 | T | TGCTAATG others(300): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 140 | 0.0071 | 307 | c.246 others(326): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RIOK2_chr5_97155867_97188247 | 97180004 | T | TAATATAT others(300): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 410 | 0.0024 | 307 | c.67- others(320): Show |
RIOK2 | ENSG00000058729.11 | transcript | ENST00000283109.8 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(300): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 408 | 0.0025 | 307 | c.182 others(324): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RNF180_chr5_64160843_64377869 | 64362908 | T | TCCTTTGC others(300): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02818.hp1 HG02886.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019a0001c0001t0026others(2): Show | a0001c0001t0005g0234a0001c0001t0005g0235a0001c0001t0005g0237others(11): Show | 14 | 250 | 0.0560 | 307 | c.158 others(326): Show |
RNF180 | ENSG00000164197.12 | transcript | ENST00000389100.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RNF180_chr5_64160843_64377869 | 64362908 | T | TCCTTTGC others(300): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0024a0001c0001t0028 | a0001c0001t0005g0188a0001c0001t0005g0190a0001c0001t0005g0191others(2): Show | 5 | 250 | 0.0200 | 307 | c.158 others(326): Show |
RNF180 | ENSG00000164197.12 | transcript | ENST00000389100.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RNF180_chr5_64160843_64377869 | 64362908 | T | TCCTTTGC others(300): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0232a0001c0001t0005g0233 | 2 | 250 | 0.0080 | 307 | c.158 others(326): Show |
RNF180 | ENSG00000164197.12 | transcript | ENST00000389100.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |