| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NCAPD3_chr11_134145113_134228967 | 134165590 | AGTGAGAT others(1291): Show |
A | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0273 | 1 | 368 | 0.0027 | -1298 | c.357 others(19): Show |
NCAPD3 | ENSG00000151503.14 | transcript | ENST00000534548.7 | protein_coding | 27/34 | chr11 | TogoVar | |||||||
| RNF212_chr4_1066478_1118564 | 1095202 | AGAACCAA others(1291): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01074.hp2 others(51): Show |
a0001a0006 | a0001c0002a0001c0009a0006c0008 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(6): Show | a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0023 others(45): Show |
54 | 404 | 0.1337 | -1298 | c.246 others(16): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
| TENM3_chr4_182238402_182808024 | 182649093 | CAAACAGA others(1291): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01192.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0008a0001c0015a0001c0016others(2): Show | a0001c0008t0001a0001c0015t0001a0001c0016t0001others(2): Show | a0001c0008t0001g0009 a0001c0008t0001g0011 a0001c0008t0001g0080 others(6): Show |
9 | 140 | 0.0643 | -1298 | c.989 others(17): Show |
TENM3 | ENSG00000218336.9 | transcript | ENST00000511685.6 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| UNC13B_chr9_35157009_35410335 | 35372830 | GCCCTGTG others(1291): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(30): Show |
a0003 | a0003c0002a0003c0016a0003c0024others(1): Show | a0003c0002t0001a0003c0016t0001a0003c0024t0001others(1): Show | a0003c0002t0001g0014 a0003c0002t0001g0021 a0003c0002t0001g0023 others(30): Show |
33 | 222 | 0.1486 | -1298 | c.954 others(18): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1089158 | GTTGTTGT others(1290): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0131 | 1 | 133 | 0.0075 | -1297 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| FNIP2_chr4_158764026_158913050 | 158878862 | TGTAAGAA others(1290): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(32): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0003a0002c0002t0003a0002c0002t0016others(2): Show | a0001c0001t0003g0184 a0002c0002t0003g0025 a0002c0002t0003g0082 others(32): Show |
35 | 252 | 0.1389 | -1297 | c.294 others(19): Show |
FNIP2 | ENSG00000052795.13 | transcript | ENST00000264433.11 | protein_coding | 14/16 | chr4 | TogoVar | |||||||
| SDHA_chr5_213320_262082 | 260785 | GAGCATTA others(1290): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 NA18965.hp2 NA19081.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0020 a0002c0003t0003g0101 a0002c0003t0003g0102 |
3 | 249 | 0.0120 | -1297 | c.*43 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3704 | chr5 | TogoVar | |||||||
| DENND4C_chr9_19225693_19379281 | 19358452 | ACATCACA others(1289): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 |
a0006a0008 | a0006c0007a0008c0006 | a0006c0007t0035a0008c0006t0034 | a0006c0007t0035g0253 a0008c0006t0034g0010 |
2 | 290 | 0.0069 | -1296 | c.516 others(17): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DISC1_chr1_231621790_232046272 | 231844792 | TGGTGGGC others(1289): Show |
T | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0024 | 1 | 38 | 0.0263 | -1296 | c.198 others(21): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166925 | CATGGTCT others(1289): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 334 | 0.0030 | -1296 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
| ELAVL1_chr19_7953573_8010641 | 8009345 | CTGGGAAT others(1289): Show |
C | upstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 274 | 0.0036 | -1296 | c.-51 others(11): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 3705 | chr19 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132303430 | CGGGCACA others(1289): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 180 | 0.0056 | -1296 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 245974619 | GTCTCCGG others(1289): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0145 | 1 | 150 | 0.0067 | -1296 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| CACNA1B_chr9_137872782_138129619 | 138017897 | TCAGGTGC others(1288): Show |
T | intron_variant | MODIFIER | HG02486.hp2 NA20752.hp2 |
a0002 | a0002c0024 | a0002c0024t0011 | a0002c0024t0011g0160 a0002c0024t0011g0162 |
2 | 96 | 0.0208 | -1295 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| RBM47_chr4_40418280_40634864 | 40480081 | GATTCTCC others(1288): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0169 | 1 | 276 | 0.0036 | -1295 | c.-15 others(21): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
| TET1_chr10_68555337_68699487 | 68570293 | CGGGGTTT others(1288): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0198 | 1 | 280 | 0.0036 | -1295 | c.-12 others(18): Show |
TET1 | ENSG00000138336.9 | transcript | ENST00000373644.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| SPEM3_chr17_7423857_7437820 | 7433090 | GAGACCAG others(1287): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01074.hp1 others(12): Show |
a0003 | a0003c0003a0003c0024 | a0003c0003t0001a0003c0024t0001 | a0003c0003t0001g0001 a0003c0024t0001g0001 |
15 | 352 | 0.0426 | -1294 | c.*32 others(10): Show |
SPEM3 | ENSG00000283439.4 | transcript | ENST00000636696.4 | protein_coding | 271 | chr17 | TogoVar | |||||||
| TMEM102_chr17_7430435_7442679 | 7433090 | GAGACCAG others(1287): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01074.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 15 | 360 | 0.0417 | -1294 | c.-26 others(11): Show |
TMEM102 | ENSG00000181284.3 | transcript | ENST00000323206.2 | protein_coding | 2344 | chr17 | TogoVar | |||||||
| ZNF439_chr19_11843726_11874486 | 11858616 | ACTTCTTT others(1287): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0094 | 1 | 318 | 0.0031 | -1294 | c.64- others(15): Show |
ZNF439 | ENSG00000171291.9 | transcript | ENST00000682736.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237976 | GCCTCCCG others(1284): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 86 | 0.0116 | -1291 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| TSPEAR_chr21_44492893_44716572 | 44568540 | TAAGCTCC others(1284): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 292 | 0.0034 | -1291 | c.83- others(14): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 1/11 | chr21 | TogoVar | |||||||
| RPS6KA6_chrX_84053350_84193199 | 84191909 | TATATATA others(1283): Show |
T | upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0211 | 1 | 269 | 0.0037 | -1290 | c.-53 others(11): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3711 | chrX | TogoVar | |||||||
| TLCD2_chr17_1697816_1715377 | 1703580 | TAATTTTT others(1283): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0092 | 1 | 450 | 0.0022 | -1290 | c.*29 others(11): Show |
TLCD2 | ENSG00000185561.10 | transcript | ENST00000330676.8 | protein_coding | 4/4 | 2900 | chr17 | TogoVar | ||||||
| RAP1GAP2_chr17_2791438_3042741 | 2816634 | ACTGTGTT others(1282): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00609.hp1 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(56): Show | a0001c0001t0001g0134 a0001c0001t0003g0091 a0001c0001t0003g0097 others(58): Show |
61 | 216 | 0.2824 | -1289 | c.80+ others(17): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12472895 | TATTATCC others(1281): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0022 a0001c0001t0002g0021 a0001c0001t0006g0014 others(7): Show |
10 | 174 | 0.0575 | -1288 | c.42- others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1990888 | CGAGCACC others(1281): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 262 | 0.0038 | -1288 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | |||||||
| PISD_chr22_31613491_31667215 | 31641568 | GCTTTGGG others(1281): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0013a0001c0001t0015others(1): Show | a0001c0001t0008g0002 a0001c0001t0008g0038 a0001c0001t0008g0039 others(6): Show |
10 | 326 | 0.0307 | -1288 | c.321 others(17): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
| RD3_chr1_211471522_211497162 | 211482088 | GGTGCATG others(1281): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03130.hp1 HG03195.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0033a0003c0003t0058a0003c0003t0065 | a0003c0003t0033g0054 a0003c0003t0058g0148 a0003c0003t0065g0187 |
4 | 414 | 0.0097 | -1288 | c.-11 others(16): Show |
RD3 | ENSG00000198570.7 | transcript | ENST00000680073.1 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
| TAFAZZIN_chrX_154406539_154426726 | 154406752 | CTCCTGCC others(1281): Show |
C | upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 283 | 0.0035 | -1288 | c.-50 others(11): Show |
TAFAZZIN | ENSG00000102125.17 | transcript | ENST00000601016.6 | protein_coding | 4786 | chrX | TogoVar | |||||||
| TMEM132D_chr12_129066726_129909025 | 129088258 | GGGTGTCC others(1281): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01074.hp1 HG01106.hp2 others(9): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0016a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0024 a0001c0001t0002g0019 a0001c0001t0002g0048 others(9): Show |
12 | 92 | 0.1304 | -1288 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
| DISP1_chr1_222810039_223010995 | 222811332 | TGGAGATC others(1280): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 346 | 0.0029 | -1287 | c.-39 others(11): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 3706 | chr1 | TogoVar | |||||||
| CFAP97D2_chr13_114174257_114228085 | 114225119 | TTAATTGA others(1279): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0008 | a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 others(24): Show |
30 | 398 | 0.0754 | -1286 | c.*26 others(11): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2035 | chr13 | TogoVar | |||||||
| GALNTL5_chr7_151951446_152024929 | 151979589 | GGCTGGGA others(1279): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0103 | 1 | 382 | 0.0026 | -1286 | c.369 others(17): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| UBXN6_chr19_4440006_4462794 | 4458605 | GCCTGTAA others(1279): Show |
G | upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 418 | 0.0024 | -1286 | c.-21 others(10): Show |
UBXN6 | ENSG00000167671.12 | transcript | ENST00000301281.11 | protein_coding | 812 | chr19 | TogoVar | |||||||
| ZNF512B_chr20_63951704_63974930 | 63964794 | ACCCTGAC others(1279): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0110 | 1 | 354 | 0.0028 | -1286 | c.103 others(15): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
| DNAJC8_chr1_28195278_28238029 | 28217488 | CGCATGAA others(1278): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0122 |
3 | 248 | 0.0121 | -1285 | c.181 others(17): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
| CDA_chr1_20584097_20623903 | 20611574 | TCCCACCA others(1277): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0042 | 2 | 416 | 0.0048 | -1284 | c.267 others(16): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ANK1_chr8_41648225_41802622 | 41683253 | GCACGATA others(1276): Show |
G | splice_region_variant others(1): Show |
LOW | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0227 | 1 | 276 | 0.0036 | -1283 | c.453 others(16): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 37/42 | chr8 | TogoVar | |||||||
| KCTD16_chr5_144165873_144490686 | 144327974 | GTTTATTT others(1276): Show |
G | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0037 | 1 | 156 | 0.0064 | -1283 | c.832 others(21): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| OPN1LW_chrX_154139243_154164032 | 154148213 | TACTCCAG others(1276): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02622.hp1 others(14): Show |
a0007a0009a0014others(5): Show | a0007c0014a0007c0018a0007c0038others(9): Show | a0007c0014t0001a0007c0014t0006a0007c0018t0001others(10): Show | a0007c0014t0001g0127 a0007c0014t0001g0129 a0007c0014t0006g0128 others(13): Show |
17 | 256 | 0.0664 | -1283 | c.113 others(17): Show |
OPN1LW | ENSG00000102076.10 | transcript | ENST00000369951.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| SPDYE21_chr7_67271941_67294005 | 67290330 | TATTTTTA others(1276): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01256.hp2 HG01496.hp2 others(15): Show |
a0005 | a0005c0005 | a0005c0005t0004a0005c0005t0012a0005c0005t0019 | a0005c0005t0004g0006 a0005c0005t0004g0057 a0005c0005t0004g0116 others(4): Show |
18 | 458 | 0.0393 | -1283 | c.*28 others(11): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 1326 | chr7 | TogoVar | |||||||
| AMBRA1_chr11_46391414_46599023 | 46550829 | GTAATCCC others(1275): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 158 | 0.0063 | -1282 | c.-12 others(19): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
| ELFN1_chr7_1665277_1752946 | 1741855 | AGACAGGG others(1275): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0025 | 1 | 300 | 0.0033 | -1282 | c.-29 others(19): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89360754 | CCACCTCC others(1275): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 225 | 0.0044 | -1282 | c.544 others(18): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
| IQSEC2_chrX_53227876_53326350 | 53289892 | ATCAGGGA others(1275): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 211 | 0.0047 | -1282 | c.737 others(16): Show |
IQSEC2 | ENSG00000124313.19 | transcript | ENST00000642864.1 | protein_coding | 2/14 | chrX | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 287555 | TCTCTCCA others(1275): Show |
T | intron_variant | MODIFIER | HG02148.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0054 | 1 | 105 | 0.0095 | -1282 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76392951 | GGGGAAGG others(1275): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG02818.hp1 HG02896.hp1 others(3): Show |
a0001a0015 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0023a0001c0002t0102others(3): Show | a0001c0001t0001g0162 a0001c0001t0023g0096 a0001c0002t0102g0046 others(3): Show |
6 | 341 | 0.0176 | -1282 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| LOC400499_chr16_11367015_11532247 | 11509886 | ATGTATCT others(1274): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG00741.hp2 others(7): Show |
a0014a0042a0067others(6): Show | a0014c0020a0042c0048a0067c0052others(6): Show | a0014c0020t0003a0042c0048t0001a0067c0052t0003others(6): Show | a0014c0020t0003g0088 a0014c0020t0003g0089 a0042c0048t0001g0270 others(7): Show |
10 | 308 | 0.0325 | -1281 | c.836 others(17): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 7/66 | chr16 | TogoVar | |||||||
| ANO7_chr2_241183677_241230976 | 241205290 | TCAGGAGT others(1273): Show |
T | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0323 | 1 | 394 | 0.0025 | -1280 | c.980 others(15): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61943184 | CTCTCACC others(1273): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0004 | a0002c0004t0025 | a0002c0004t0025g0098 | 1 | 87 | 0.0115 | -1280 | c.*62 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2568 | chr20 | TogoVar |