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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNMA5_chrX_152983824_152999116 | 152998738 | T | TTATATAT others(300): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 31 | 0.0323 | 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 | 228 | 0.0044 | 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 | a0001c0001t0004g0208 a0001c0001t0004g0209 |
2 | 306 | 0.0065 | 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 | 172 | 0.0058 | 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 | a0001c0001t0004a0001c0001t0040a0001c0019t0016others(20): Show | a0001c0001t0004g0096 a0001c0001t0040g0003 a0001c0019t0016g0268 others(26): Show |
29 | 276 | 0.1051 | 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 | 440 | 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 | a0001c0001t0001g0223 | 1 | 157 | 0.0064 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0129 a0001c0001t0001g0135 others(9): Show |
14 | 170 | 0.0824 | 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 | a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 others(1): Show |
4 | 160 | 0.0250 | 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 | a0001c0001t0017g0028 | 1 | 79 | 0.0127 | 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 | 34 | 0.0294 | 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 | a0001c0001t0001g0030 a0001c0001t0023g0047 a0001c0001t0036g0032 |
3 | 67 | 0.0448 | 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 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0034 | a0001c0001t0001g0059 a0003c0003t0034g0061 |
2 | 52 | 0.0385 | 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 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0002g0072 others(8): Show |
11 | 169 | 0.0651 | 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 | a0001c0001t0018 | a0001c0001t0018g0139 | 1 | 33 | 0.0303 | 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 | 33 | 0.0303 | 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 | a0001c0001t0004g0189 | 1 | 376 | 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 | a0001c0001t0005g0004 a0001c0001t0006g0029 a0001c0001t0009g0012 others(10): Show |
14 | 65 | 0.2154 | 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 | a0001c0004t0007g0109 | 1 | 52 | 0.0192 | 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 | a0001c0002t0007g0102 a0002c0003t0002g0091 |
2 | 53 | 0.0377 | 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 | a0001c0002t0001g0005 | 1 | 52 | 0.0192 | 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 | a0001c0002t0001g0020 a0001c0004t0007g0112 |
2 | 53 | 0.0377 | 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 | a0001c0001t0009g0166 a0001c0002t0001g0265 |
2 | 53 | 0.0377 | 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 | a0001c0009t0004g0206 | 1 | 52 | 0.0192 | 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 | a0001c0002t0003g0001 | 1 | 52 | 0.0192 | 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(203): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(41): Show | a0001c0001t0001g0217 a0001c0001t0003g0006 a0001c0001t0003g0172 others(152): Show |
206 | 257 | 0.8016 | 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 |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(11): Show | a0001c0001t0005g0049 a0001c0001t0006g0003 a0001c0001t0006g0030 others(23): Show |
29 | 80 | 0.3625 | 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 | a0001c0001t0009g0162 | 1 | 52 | 0.0192 | 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 | a0002c0003t0002g0002 | 1 | 52 | 0.0192 | 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 | a0001c0001t0006g0136 | 1 | 52 | 0.0192 | 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 | a0001c0004t0011g0094 a0001c0004t0011g0095 |
2 | 53 | 0.0377 | 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 | a0001c0001t0003g0006 a0001c0002t0001g0224 a0001c0002t0004g0191 others(4): Show |
8 | 59 | 0.1356 | 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 | 333 | 0.0030 | 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 | a0001c0001t0002g0063 | 1 | 286 | 0.0035 | 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 | a0003c0017t0001g0254 a0003c0017t0001g0255 a0003c0049t0001g0252 |
3 | 215 | 0.0140 | 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 | 131 | 0.0076 | 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 | a0002c0002t0001g0008 | 1 | 240 | 0.0042 | 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 | a0001c0001t0001g0057 | 1 | 6 | 0.1667 | 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 | a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0237 others(11): Show |
14 | 233 | 0.0601 | 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 | a0001c0001t0005g0188 a0001c0001t0005g0190 a0001c0001t0005g0191 others(2): Show |
5 | 224 | 0.0223 | 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 | a0001c0001t0005g0232 a0001c0001t0005g0233 |
2 | 221 | 0.0090 | 307 | c.158 others(326): Show |
RNF180 | ENSG00000164197.12 | transcript | ENST00000389100.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11286234 | T | TTAAGCAG others(300): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01496.hp1 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0037 | a0002c0002t0002g0060 a0002c0002t0003g0054 a0002c0002t0037g0034 |
3 | 93 | 0.0323 | 307 | c.324 others(322): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60542445 | A | ACATGCAC others(300): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0004a0001c0006t0004 | a0001c0005t0004g0024 a0001c0005t0004g0082 a0001c0005t0004g0107 others(2): Show |
5 | 111 | 0.0450 | 307 | c.197 others(326): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679342 | T | TACATGTT others(300): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 26 | 0.0385 | 307 | c.-75 others(326): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23768605 | T | TGAGAAAG others(300): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0328 | 1 | 9 | 0.1111 | 307 | c.-30 others(326): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23768605 | T | TGAGAAAG others(300): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0346 | 1 | 9 | 0.1111 | 307 | c.-30 others(326): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23768605 | T | TGAGAAAG others(300): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(93): Show |
a0001a0002a0014 | a0001c0001a0001c0012a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(36): Show | a0001c0001t0001g0006 a0001c0001t0001g0245 a0001c0001t0001g0259 others(91): Show |
96 | 104 | 0.9231 | 307 | c.-30 others(326): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23768605 | T | TGAGAAAG others(300): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0108 | a0001c0001t0001g0007 a0001c0001t0108g0320 |
3 | 11 | 0.2727 | 307 | c.-30 others(326): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RRM2B_chr8_102199502_102243961 | 102202243 | T | TATCATCT others(300): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 384 | 0.0026 | 307 | c.*58 others(318): Show |
RRM2B | ENSG00000048392.13 | transcript | ENST00000251810.8 | protein_coding | 2258 | chr8 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158628943 | T | TAAGGCCG others(300): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG00741.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0099 a0001c0001t0001g0128 others(7): Show |
10 | 157 | 0.0637 | 307 | c.899 others(322): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |