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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBMS3_chr3_29276071_30015386 | 29691947 | C | CTCTCTCT others(20): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 45 | 0.0222 | 27 | c.400 others(46): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29930109 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0103 | 1 | 18 | 0.0556 | 27 | c.940 others(44): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMXL3_chrX_115184410_115197868 | 115190618 | A | AGAGGCCA others(20): Show |
disruptive_inframe_insertion | MODERATE | HG02145.hp1 | a0020 | a0020c0033 | a0020c0033t0001 | a0020c0033t0001g0000 | 1 | 28 | 0.0357 | 27 | c.118 others(36): Show |
p.Gly others(40): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 1/1 | 1216/3459 | 1184/3204 | 395/1067 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
RBMXL3_chrX_115184410_115197868 | 115190618 | A | AGAGGCCG others(20): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0002a0001c0004others(50): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(50): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 others(50): Show |
278 | 305 | 0.9115 | 27 | c.119 others(36): Show |
p.Pro others(40): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 1/1 | 1224/3459 | 1192/3204 | 398/1067 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
RBMXL3_chrX_115184410_115197868 | 115190618 | A | AGAGGCCG others(20): Show |
conservative_inframe_insertion | MODERATE | HG02970.hp2 | a0001 | a0001c0066 | a0001c0066t0001 | a0001c0066t0001g0000 | 1 | 28 | 0.0357 | 27 | c.119 others(36): Show |
p.Pro others(40): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 1/1 | 1224/3459 | 1192/3204 | 398/1067 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
RBMXL3_chrX_115184410_115197868 | 115190618 | A | AGAGGCTG others(20): Show |
conservative_inframe_insertion | MODERATE | HG02976.hp2 NA19030.hp2 |
a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0000 | 2 | 29 | 0.0690 | 27 | c.118 others(36): Show |
p.Gly others(40): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 1/1 | 1215/3459 | 1183/3204 | 395/1067 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
RBMXL3_chrX_115184410_115197868 | 115190618 | A | AGAGGTCG others(20): Show |
disruptive_inframe_insertion | MODERATE | NA18954.hp1 NA18968.hp1 NA19056.hp1 |
a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0000 | 3 | 30 | 0.1000 | 27 | c.118 others(36): Show |
p.Gly others(40): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 1/1 | 1214/3459 | 1182/3204 | 394/1067 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
RBMXL3_chrX_115184410_115197868 | 115190625 | G | GCTCGCCC others(20): Show |
conservative_inframe_insertion | MODERATE | HG02109.hp2 | a0019 | a0019c0042 | a0019c0042t0001 | a0019c0042t0001g0000 | 1 | 312 | 0.0032 | 27 | c.119 others(36): Show |
p.Pro others(40): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 1/1 | 1224/3459 | 1192/3204 | 398/1067 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
RBMXL3_chrX_115184410_115197868 | 115190644 | C | CGGAGGCC others(20): Show |
disruptive_inframe_insertion | MODERATE | HG02559.hp1 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0010a0001c0044a0001c0045 | a0001c0010t0001a0001c0044t0001a0001c0045t0001 | a0001c0010t0001g0000 a0001c0044t0001g0000 a0001c0045t0001g0000 |
6 | 312 | 0.0192 | 27 | c.120 others(36): Show |
p.Gly others(40): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 1/1 | 1238/3459 | 1206/3204 | 402/1067 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
RBPJL_chr20_45301840_45322824 | 45305805 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 HG02071.hp2 HG02074.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0006 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0051 others(5): Show |
14 | 23 | 0.6087 | 27 | c.-11 others(38): Show |
RBPJL | ENSG00000124232.11 | transcript | ENST00000343694.8 | protein_coding | 1034 | chr20 | TogoVar | |||||||
RC3H1_chr1_173926084_174027357 | 173929831 | T | TTTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG02523.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0020 | a0001c0001t0003g0007 a0001c0001t0003g0058 a0001c0001t0010g0042 others(2): Show |
5 | 256 | 0.0195 | 27 | c.*88 others(38): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1252 | chr1 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAAAAAT others(20): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0011 | 1 | 119 | 0.0084 | 27 | c.*52 others(38): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 a0001c0002t0002g0194 |
2 | 145 | 0.0138 | 27 | c.286 others(44): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | ATAAAAAA others(20): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0256 | 1 | 144 | 0.0069 | 27 | c.286 others(44): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | ATAAAAAT others(20): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18940.hp1 NA18950.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0028 a0001c0001t0003g0214 others(5): Show |
8 | 151 | 0.0530 | 27 | c.286 others(44): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | ATAAATAT others(20): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 144 | 0.0069 | 27 | c.286 others(44): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCHY1_chr4_75474033_75519403 | 75487732 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02129.hp2 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0044 a0001c0001t0011g0208 |
3 | 388 | 0.0077 | 27 | c.657 others(44): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
RCHY1_chr4_75474033_75519403 | 75487867 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG02071.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0261 a0001c0001t0002g0002 a0001c0001t0003g0070 others(9): Show |
12 | 394 | 0.0305 | 27 | c.657 others(44): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
RCOR1_chr14_102587649_102735561 | 102623387 | A | ATTAATTA others(20): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 223 | 0.0045 | 27 | c.361 others(46): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167627369 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0315 | 1 | 162 | 0.0062 | 27 | c.-30 others(38): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 2862 | chr1 | TogoVar | |||||||
RCSD1_chr1_167625232_167713696 | 167630721 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01978.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0043 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0043g0015 |
3 | 18 | 0.1667 | 27 | c.6+2 others(38): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RDH10_chr8_73289602_73330281 | 73315190 | C | CCCCCACC others(20): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01243.hp2 HG01261.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0018 a0001c0001t0006g0026 a0001c0001t0006g0056 others(1): Show |
11 | 365 | 0.0301 | 27 | c.526 others(44): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01928.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0240 others(3): Show |
6 | 98 | 0.0612 | 27 | c.-65 others(44): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
REC114_chr15_73438164_73565013 | 73462884 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 125 | 0.0080 | 27 | c.160 others(46): Show |
REC114 | ENSG00000183324.11 | transcript | ENST00000331090.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36082152 | T | TCTCTCTC others(20): Show |
intron_variant | MODIFIER | HG02056.hp2 NA19082.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 a0001c0002t0001g0061 |
2 | 134 | 0.0149 | 27 | c.440 others(44): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 7/20 | chr9 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1493722 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 316 | 0.0032 | 27 | c.116 others(44): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500696 | G | GAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 HG02486.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0023 others(1): Show |
4 | 244 | 0.0164 | 27 | c.*34 others(38): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2770 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500696 | G | GAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 241 | 0.0041 | 27 | c.*34 others(38): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2770 | chr19 | TogoVar | |||||||
RELB_chr19_44996464_45043192 | 45017449 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02486.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 a0001c0001t0001g0312 a0001c0001t0001g0313 others(1): Show |
4 | 106 | 0.0377 | 27 | c.505 others(44): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103977310 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0037 | 1 | 35 | 0.0286 | 27 | c.226 others(46): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 17093200 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 104 | 0.0096 | 27 | c.151 others(48): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
RER1_chr1_2386841_2410436 | 2401253 | T | TCCTCCCT others(20): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 350 | 0.0029 | 27 | c.365 others(42): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8512014 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0066 a0001c0001t0006g0170 |
2 | 35 | 0.0571 | 27 | c.831 others(44): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8516227 | G | GAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 32 | 0.0313 | 27 | c.831 others(44): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8516227 | G | GGAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0132 | 1 | 32 | 0.0313 | 27 | c.831 others(44): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8559280 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 29 | 0.0345 | 27 | c.523 others(44): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02155.hp2 NA18983.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0030a0001c0001t0037a0001c0007t0003 | a0001c0001t0030g0143 a0001c0001t0037g0196 a0001c0007t0003g0084 |
3 | 42 | 0.0714 | 27 | c.-14 others(48): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01433.hp1 NA19074.hp2 others(1): Show |
a0001a0002a0009 | a0001c0003a0001c0004a0002c0006others(1): Show | a0001c0003t0008a0001c0004t0003a0002c0006t0003others(1): Show | a0001c0003t0008g0105 a0001c0004t0003g0092 a0002c0006t0003g0094 others(1): Show |
4 | 43 | 0.0930 | 27 | c.-14 others(48): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG02132.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0022a0002c0006 | a0001c0001t0003a0001c0022t0008a0002c0006t0003others(1): Show | a0001c0001t0003g0104 a0001c0022t0008g0082 a0002c0006t0003g0088 others(1): Show |
4 | 43 | 0.0930 | 27 | c.-14 others(48): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 40 | 0.0250 | 27 | c.-14 others(48): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0016 | a0001c0016t0020 | a0001c0016t0020g0004 | 1 | 40 | 0.0250 | 27 | c.-14 others(48): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15161134 | C | CGAAAGAA others(20): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 298 | 0.0034 | 27 | c.62- others(44): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RETN_chr19_7664049_7675455 | 7674859 | C | CTTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0016 a0001c0001t0003g0007 |
2 | 51 | 0.0392 | 27 | c.*45 others(38): Show |
RETN | ENSG00000104918.8 | transcript | ENST00000221515.6 | protein_coding | 4405 | chr19 | TogoVar | |||||||
REV1_chr2_99395477_99495017 | 99429747 | A | AAATCCAC others(20): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp2 HG03098.hp1 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0217 a0003c0003t0001g0002 a0003c0003t0001g0082 others(4): Show |
8 | 249 | 0.0321 | 27 | c.154 others(42): Show |
REV1 | ENSG00000135945.10 | transcript | ENST00000258428.8 | protein_coding | 9/22 | chr2 | TogoVar | |||||||
REXO5_chr16_20801527_20854665 | 20820544 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 328 | 0.0030 | 27 | c.476 others(44): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20820545 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 337 | 0.0030 | 27 | c.476 others(44): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | chr16 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39329127 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18968.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 a0001c0002t0002g0177 |
2 | 19 | 0.1053 | 27 | c.332 others(44): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 4/24 | chr4 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124296072 | T | TTTTCTTT others(20): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 349 | 0.0029 | 27 | c.207 others(42): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124296166 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0134 | 1 | 36 | 0.0278 | 27 | c.207 others(42): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124296167 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0057 | 1 | 354 | 0.0028 | 27 | c.207 others(42): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |