| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(679): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0150 | 1 | 169 | 0.0059 | 686 | c.48- others(703): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AFF2_chrX_148495617_149005663 | 148581417 | C | CACGTATA others(679): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0102 | a0001c0002t0102g0094 | 1 | 169 | 0.0059 | 686 | c.48- others(703): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | chrX | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 318194 | C | CACCTCCC others(679): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0003 | a0004c0003t0037 | a0004c0003t0037g0223 | 1 | 268 | 0.0037 | 686 | c.-36 others(697): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3519 | chr5 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 318246 | C | CACCTCCC others(679): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0136 | 1 | 268 | 0.0037 | 686 | c.-35 others(697): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3467 | chr5 | TogoVar | ||||||
| ANO9_chr11_412938_447011 | 431159 | C | CGCAGGGG others(679): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03486.hp1 NA19240.hp2 others(1): Show |
a0001a0012 | a0001c0013a0012c0017 | a0001c0013t0005a0001c0013t0008a0012c0017t0003 | a0001c0013t0005g0003a0001c0013t0008g0275a0012c0017t0003g0010 | 4 | 286 | 0.0140 | 686 | c.539 others(701): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1897507 | C | CTGTGGGC others(679): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 |
a0001a0004 | a0001c0005a0004c0064 | a0001c0005t0027a0004c0064t0071 | a0001c0005t0027g0195a0004c0064t0071g0189 | 2 | 363 | 0.0055 | 686 | c.155 others(703): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARSF_chrX_3036471_3117727 | 3037076 | A | AATATATA others(679): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 193 | 0.0052 | 686 | c.-46 others(697): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4394 | chrX | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(679): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0057 | 1 | 391 | 0.0026 | 686 | c.*36 others(697): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
| B4GALNT4_chr11_364499_387117 | 374842 | G | GAGGGAGG others(679): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0174 | 1 | 184 | 0.0054 | 686 | c.784 others(701): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| C4orf50_chr4_5954375_6023431 | 6004363 | A | ATGGTGAC others(679): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02970.hp1 others(1): Show |
a0012a0061a0072others(1): Show | a0012c0017a0061c0074a0072c0081others(1): Show | a0012c0017t0000a0061c0074t0000a0072c0081t0000others(1): Show | a0012c0017t0000g0036a0061c0074t0000g0208a0072c0081t0000g0332others(1): Show | 4 | 346 | 0.0116 | 686 | c.963 others(703): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
| CA10_chr17_51625320_52163714 | 51899885 | T | TTGGTAGA others(679): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0082a0001c0001t0004g0145 | 2 | 156 | 0.0128 | 686 | c.279 others(705): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
| CA10_chr17_51625320_52163714 | 51899885 | T | TTGGTAGA others(679): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0085a0001c0001t0002g0086a0001c0001t0003g0138others(1): Show | 4 | 156 | 0.0256 | 686 | c.279 others(705): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(679): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0007 | a0007c0005 | a0007c0005t0003 | a0007c0005t0003g0181 | 1 | 338 | 0.0030 | 686 | c.300 others(703): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CAMKK2_chr12_121232692_121301709 | 121255344 | A | ATATATAT others(679): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0007 | a0001c0007t0011 | a0001c0007t0011g0292 | 1 | 330 | 0.0030 | 686 | c.907 others(701): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181720 | C | CACATACA others(679): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0378 | 1 | 460 | 0.0022 | 686 | c.193 others(703): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(679): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 284 | 0.0035 | 686 | c.712 others(703): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(679): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 256 | 0.0039 | 686 | c.-45 others(707): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61457720 | G | GCAGTGCT others(679): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01358.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0008 | a0001c0001t0002g0057a0001c0011t0008g0003 | 2 | 106 | 0.0189 | 686 | c.169 others(707): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61716380 | G | GCTGGACC others(679): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02145.hp2 HG02895.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0028others(2): Show | a0001c0001t0001g0032a0001c0001t0002g0088a0001c0001t0028g0016others(2): Show | 5 | 106 | 0.0472 | 686 | c.170 others(705): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| COL21A1_chr6_56051590_56252580 | 56098126 | T | TATATAAA others(679): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0036a0001c0001t0011g0007a0001c0001t0011g0008 | 3 | 264 | 0.0114 | 686 | c.181 others(705): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
| COL22A1_chr8_138583235_138919041 | 138692270 | T | TTGTGGAG others(679): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02886.hp2 HG02970.hp1 others(2): Show |
a0001a0003 | a0001c0006a0001c0018a0001c0056others(1): Show | a0001c0006t0001a0001c0018t0001a0001c0056t0004others(1): Show | a0001c0006t0001g0062a0001c0006t0001g0113a0001c0018t0001g0055others(2): Show | 5 | 158 | 0.0317 | 686 | c.275 others(705): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
| COL22A1_chr8_138583235_138919041 | 138692270 | T | TTGTGGAG others(679): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0034 | 1 | 158 | 0.0063 | 686 | c.275 others(705): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
| COL22A1_chr8_138583235_138919041 | 138692270 | T | TTGTGGAG others(679): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0097 | 1 | 158 | 0.0063 | 686 | c.275 others(705): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
| COL22A1_chr8_138583235_138919041 | 138692270 | T | TTGTGGAG others(679): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02559.hp1 HG02630.hp1 others(5): Show |
a0001a0010 | a0001c0006a0001c0008a0001c0016others(4): Show | a0001c0006t0001a0001c0008t0002a0001c0016t0001others(5): Show | a0001c0006t0001g0054a0001c0008t0002g0093a0001c0016t0001g0132others(5): Show | 8 | 158 | 0.0506 | 686 | c.275 others(705): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
| COL22A1_chr8_138583235_138919041 | 138692270 | T | TTGTGGAG others(679): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG02280.hp2 others(12): Show |
a0001a0003 | a0001c0008a0001c0010a0001c0012others(7): Show | a0001c0008t0002a0001c0010t0001a0001c0012t0001others(10): Show | a0001c0008t0002g0026a0001c0008t0002g0096a0001c0010t0001g0025others(12): Show | 15 | 158 | 0.0949 | 686 | c.275 others(705): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131978290 | A | ATATTTAT others(679): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0093 | 1 | 94 | 0.0106 | 686 | c.-2+ others(703): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(679): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 216 | 0.0046 | 686 | c.923 others(705): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322124 | C | CTCCGGCG others(679): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 88 | 0.0114 | 686 | c.392 others(705): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DYM_chr18_49031387_49465645 | 49440824 | A | AATATATG others(679): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0277 | 1 | 290 | 0.0035 | 686 | c.-53 others(705): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
| FHIT_chr3_59742277_61256452 | 59986789 | T | TATTTATA others(679): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 46 | 0.0217 | 686 | c.279 others(705): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586499 | C | CAGTGGGG others(679): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0181 | 1 | 308 | 0.0033 | 686 | c.157 others(703): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(679): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 230 | 0.0044 | 686 | c.126 others(703): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FUT7_chr9_137025174_137037088 | 137034351 | A | AGGGGGGC others(679): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 0.0028 | 686 | c.-23 others(697): Show |
FUT7 | ENSG00000180549.8 | transcript | ENST00000314412.7 | protein_coding | 2264 | chr9 | TogoVar | ||||||
| GFPT2_chr5_180295698_180358336 | 180299979 | A | AATGGTGG others(679): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00639.hp1 others(41): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0019others(1): Show | a0001c0003t0002a0001c0004t0001a0001c0004t0002others(5): Show | a0001c0003t0002g0292a0001c0004t0001g0004a0001c0004t0001g0010others(39): Show | 44 | 412 | 0.1068 | 686 | c.*15 others(697): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 718 | chr5 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(679): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0101 | 1 | 323 | 0.0031 | 686 | c.-36 others(697): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322342 | T | TGCAGTAT others(679): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0233 | 1 | 323 | 0.0031 | 686 | c.-27 others(697): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2627 | chr21 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(679): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 204 | 0.0049 | 686 | c.978 others(703): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| INS_chr11_2154779_2166209 | 2161832 | A | ACACCCCT others(679): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 376 | 0.0027 | 686 | c.-68 others(695): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 624 | chr11 | TogoVar | ||||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(679): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0175 | 1 | 386 | 0.0026 | 686 | c.-46 others(697): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997382 | G | GGGGGCGG others(679): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 375 | 0.0027 | 686 | c.-20 others(697): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 288 | chr6 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(679): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 | 1 | 262 | 0.0038 | 686 | c.212 others(705): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(679): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 686 | c.-30 others(697): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(679): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 686 | c.-30 others(697): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(679): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 686 | c.-30 others(697): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
| MPG_chr16_73225_90846 | 82247 | G | GCTCCCCA others(679): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 442 | 0.0023 | 686 | c.301 others(701): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(679): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 140 | 0.0071 | 686 | c.114 others(705): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(679): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 140 | 0.0071 | 686 | c.114 others(705): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690339 | T | TATATATA others(679): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 326 | 0.0031 | 686 | c.358 others(703): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(679): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0025 | 1 | 170 | 0.0059 | 686 | c.166 others(705): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NPRL3_chr16_80386_143673 | 82247 | G | GCTCCCCA others(679): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 350 | 0.0029 | 686 | c.*44 others(697): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3138 | chr16 | TogoVar |