| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PPP2R2D_chr10_131896008_131964834 | 131917991 | CAGGGACC others(1767): Show |
C | intron_variant | MODIFIER | HG02080.hp1 HG02523.hp2 NA18959.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050 a0001c0001t0004g0073 a0001c0001t0004g0079 others(3): Show |
6 | 389 | 0.0154 | -1774 | c.101 others(19): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PSMD9_chr12_121883790_121923297 | 121904301 | GTGGTGGC others(1766): Show |
G | intron_variant | MODIFIER | HG01109.hp2 NA19030.hp2 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0006 | a0004c0004t0001g0041 a0004c0004t0006g0035 |
2 | 396 | 0.0051 | -1773 | c.555 others(17): Show |
PSMD9 | ENSG00000110801.14 | transcript | ENST00000541212.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| WDR72_chr15_53508741_53764663 | 53542066 | TCTGCAGG others(1766): Show |
T | intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0222 | 1 | 314 | 0.0032 | -1773 | c.314 others(21): Show |
WDR72 | ENSG00000166415.15 | transcript | ENST00000360509.10 | protein_coding | 18/19 | chr15 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1237784 | CCCTCCCG others(1765): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0035 | 1 | 76 | 0.0132 | -1772 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| EPHB1_chr3_134790260_135265467 | 135123692 | CTTATTGT others(1765): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03225.hp2 HG06807.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0002t0025a0001c0003t0003 | a0001c0002t0007g0027 a0001c0002t0025g0107 a0001c0003t0003g0006 |
3 | 132 | 0.0227 | -1772 | c.962 others(17): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168698305 | ACTGTAGT others(1765): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0133 | 1 | 154 | 0.0065 | -1772 | c.150 others(19): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| TAS2R38_chr7_141967631_141978773 | 141970723 | TATCACAC others(1765): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 436 | 0.0023 | -1772 | c.*19 others(10): Show |
TAS2R38 | ENSG00000257138.1 | transcript | ENST00000547270.1 | protein_coding | 1907 | chr7 | TogoVar | |||||||
| DTHD1_chr4_36276616_36352511 | 36297420 | GGCTCTTG others(1763): Show |
G | intron_variant | MODIFIER | HG01517.hp2 | a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0214 | 1 | 306 | 0.0033 | -1770 | c.164 others(19): Show |
DTHD1 | ENSG00000197057.10 | transcript | ENST00000639862.2 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
| SPRYD7_chr13_49907702_49941340 | 49938982 | AGTCACAT others(1762): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01167.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0020 a0001c0001t0003g0034 a0001c0001t0003g0035 others(3): Show |
10 | 378 | 0.0265 | -1769 | c.-45 others(11): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 2643 | chr13 | TogoVar | |||||||
| TAF11L8_chr5_17585364_17595960 | 17587249 | TGGCTTTC others(1762): Show |
T | downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | -1769 | c.*13 others(11): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3114 | chr5 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1641907 | CCCCGCCG others(1761): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 26 | 0.0385 | -1768 | c.181 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| TAF11L8_chr5_17585364_17595960 | 17586866 | CAGCGGCC others(1761): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01981.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0000 a0003c0010t0001g0000 |
7 | 99 | 0.0707 | -1768 | c.*17 others(11): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3497 | chr5 | TogoVar | |||||||
| TAF11L8_chr5_17585364_17595960 | 17586870 | GGCCTCAT others(1760): Show |
G | downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | -1767 | c.*17 others(11): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3493 | chr5 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 745270 | CGGGGGTC others(1759): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03516.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244 a0001c0001t0004g0313 a0001c0001t0004g0314 others(1): Show |
4 | 341 | 0.0117 | -1766 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| DNASE2B_chr1_84393484_84420018 | 84417289 | TAGAAAAC others(1758): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 424 | 0.0024 | -1765 | c.*24 others(11): Show |
DNASE2B | ENSG00000137976.8 | transcript | ENST00000370665.4 | protein_coding | 2272 | chr1 | TogoVar | |||||||
| GNB1_chr1_1780286_1896087 | 1842390 | CCTGCACT others(1758): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 334 | 0.0030 | -1765 | c.-95 others(17): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744929 | CGGGGGTC others(1758): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0220 | 1 | 357 | 0.0028 | -1765 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| TAF11L8_chr5_17585364_17595960 | 17586955 | GTGCGCGC others(1758): Show |
G | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | -1765 | c.*16 others(11): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3408 | chr5 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1401497 | GCTCCCTC others(1757): Show |
G | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 40 | 0.0250 | -1764 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| GNA14_chr9_77418079_77653322 | 77616901 | ACTCTGTC others(1757): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0161 a0001c0001t0003g0162 |
2 | 238 | 0.0084 | -1764 | c.124 others(19): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744756 | CCCGGGGG others(1757): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA18979.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0060 | a0001c0001t0001g0198 a0001c0001t0001g0222 a0001c0001t0060g0010 |
3 | 363 | 0.0083 | -1764 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744759 | GGGGGTCG others(1757): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025a0001c0001t0051 | a0001c0001t0002g0180 a0001c0001t0025g0117 a0001c0001t0051g0042 |
3 | 288 | 0.0104 | -1764 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744873 | CGGGGTCG others(1757): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0283 a0001c0001t0019g0352 |
2 | 283 | 0.0071 | -1764 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745215 | GGGGTCGC others(1757): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0297 | 1 | 364 | 0.0027 | -1764 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| TAF11L10_chr5_17592232_17602828 | 17599621 | TGAGGTGA others(1757): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 352 | 0.0028 | -1764 | c.-35 others(11): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1794 | chr5 | TogoVar | |||||||
| ZNF208_chr19_21961095_22015943 | 21971662 | CGTACTAA others(1757): Show |
C | disruptive_inframe_deletion | MODERATE | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 400 | 0.0025 | -1764 | c.160 others(9): Show |
p.Phe others(14): Show |
ZNF208 | ENSG00000160321.16 | transcript | ENST00000397126.9 | protein_coding | 4/4 | 3520/9088 | 1608/3843 | 536/1280 | chr19 | TogoVar | |||
| SLC13A4_chr7_135676231_135733186 | 135678137 | TGGAAGTT others(1756): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0232 | 1 | 370 | 0.0027 | -1763 | c.*16 others(11): Show |
SLC13A4 | ENSG00000164707.16 | transcript | ENST00000682651.1 | protein_coding | 3093 | chr7 | TogoVar | |||||||
| STK19_chr6_31967363_31986446 | 31984683 | GCACAGAC others(1756): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01069.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0126 others(4): Show |
13 | 432 | 0.0301 | -1763 | c.*36 others(11): Show |
STK19 | ENSG00000204344.16 | transcript | ENST00000685781.1 | protein_coding | 3238 | chr6 | TogoVar | |||||||
| STMP1_chr7_135657514_135681416 | 135678137 | TGGAAGTT others(1756): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0066 | 1 | 390 | 0.0026 | -1763 | c.*39 others(11): Show |
STMP1 | ENSG00000243317.8 | transcript | ENST00000507606.3 | protein_coding | 1722 | chr7 | TogoVar | |||||||
| PEAK1_chr15_77103158_77425104 | 77296279 | TGCCCTGA others(1755): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0024 | a0001c0001t0005g0317 a0001c0001t0010g0313 a0001c0001t0010g0315 others(2): Show |
5 | 324 | 0.0154 | -1762 | c.-60 others(20): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76392936 | CAGGTGGT others(1755): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01261.hp1 others(13): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(13): Show | a0001c0001t0001g0219 a0001c0001t0006g0295 a0001c0001t0011g0167 others(13): Show |
16 | 339 | 0.0472 | -1762 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76392982 | CAGGTGGT others(1755): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0289 | 1 | 335 | 0.0030 | -1762 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2280403 | AGAGGGAG others(1754): Show |
A | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 48 | 0.0208 | -1761 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| COL23A1_chr5_178232618_178595393 | 178394846 | AGCATTCG others(1753): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0168 | 1 | 186 | 0.0054 | -1760 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
| COL23A1_chr5_178232618_178595393 | 178394895 | TGTCCTCC others(1753): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02622.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0001others(2): Show | a0001c0001t0002g0049 a0001c0001t0003g0214 a0001c0005t0001g0007 others(2): Show |
5 | 163 | 0.0307 | -1760 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
| COL23A1_chr5_178232618_178595393 | 178394983 | CGTCCTCC others(1753): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG01256.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0002g0079 a0001c0001t0002g0189 a0001c0001t0003g0067 others(5): Show |
8 | 169 | 0.0473 | -1760 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
| TRIM9_chr14_50970266_51100105 | 50971537 | CAGTCCAA others(1753): Show |
C | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 340 | 0.0029 | -1760 | c.*39 others(11): Show |
TRIM9 | ENSG00000100505.14 | transcript | ENST00000684578.1 | protein_coding | 3728 | chr14 | TogoVar | |||||||
| SDHA_chr5_213320_262082 | 259698 | CAGCATTA others(1752): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 220 | 0.0045 | -1759 | c.*32 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2617 | chr5 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79919815 | ACGGGAAC others(1752): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0294 | 1 | 328 | 0.0030 | -1759 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| EPB41_chr1_28909569_29125041 | 28977939 | GTTTCATT others(1751): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(9): Show |
a0001 | a0001c0002a0001c0012 | a0001c0002t0007a0001c0002t0019a0001c0002t0036others(1): Show | a0001c0002t0007g0196 a0001c0002t0007g0197 a0001c0002t0007g0198 others(9): Show |
12 | 310 | 0.0387 | -1758 | c.-7- others(15): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NR4A1_chr12_52046442_52064503 | 52062426 | CGCTGCTG others(1751): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0028 | 1 | 420 | 0.0024 | -1758 | c.*34 others(11): Show |
NR4A1 | ENSG00000123358.20 | transcript | ENST00000394825.6 | protein_coding | 2924 | chr12 | TogoVar | |||||||
| ACAP1_chr17_7331529_7356477 | 7337591 | TGCCTGTA others(1750): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0166 | 1 | 444 | 0.0023 | -1757 | c.111 others(16): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177990728 | ACTCTGTC others(1750): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 HG03139.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0011a0002c0002t0001a0002c0002t0012others(1): Show | a0001c0003t0011g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 others(3): Show |
6 | 168 | 0.0357 | -1757 | c.107 others(21): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
| TXNRD1_chr12_104210779_104355307 | 104336912 | ACAATGTA others(1750): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 300 | 0.0033 | -1757 | c.174 others(18): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| ZNF670_chr1_247029637_247083811 | 247067863 | AAAAGCTC others(1750): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0040 | 1 | 324 | 0.0031 | -1757 | c.3+8 others(14): Show |
ZNF670 | ENSG00000277462.2 | transcript | ENST00000366503.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
| DMD_chrX_31114222_33216549 | 32969205 | CTTTATAA others(1749): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG01255.hp1 others(33): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0053others(22): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(26): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0010g0008 others(33): Show |
36 | 126 | 0.2857 | -1756 | c.93+ others(17): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
| ZNF670_chr1_247029637_247083811 | 247067864 | AAAGCTCC others(1749): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG02970.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0039 | a0001c0001t0009g0012 a0001c0001t0009g0035 a0001c0001t0009g0037 others(4): Show |
9 | 324 | 0.0278 | -1756 | c.3+8 others(14): Show |
ZNF670 | ENSG00000277462.2 | transcript | ENST00000366503.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
| ERC1_chr12_986223_1500931 | 1085899 | GTTGTTGT others(1748): Show |
G | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0043a0002c0002t0010 | a0001c0001t0043g0156 a0002c0002t0010g0087 a0002c0002t0010g0089 others(2): Show |
5 | 106 | 0.0472 | -1755 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| LHFPL3_chr7_104323603_104913561 | 104834345 | AGGAATAA others(1748): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 a0001c0001t0009g0076 |
2 | 86 | 0.0233 | -1755 | c.683 others(19): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
| ZNF670_chr1_247029637_247083811 | 247067865 | AAGCTCCA others(1748): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0039 | 1 | 324 | 0.0031 | -1755 | c.3+8 others(14): Show |
ZNF670 | ENSG00000277462.2 | transcript | ENST00000366503.3 | protein_coding | 1/3 | chr1 | TogoVar |