| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZNF516_chr18_76352682_76500242 | 76393393 | GGGGAAGG others(690): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0003 | a0002c0003t0170 | a0002c0003t0170g0109 | 1 | 346 | 0.0029 | -697 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393536 | GGGCAGGG others(690): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0028 | a0001c0001t0086a0001c0028t0071 | a0001c0001t0086g0099a0001c0028t0071g0128 | 2 | 346 | 0.0058 | -697 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237064 | GCCTCCGG others(689): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0087 | 1 | 106 | 0.0094 | -696 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CAMK1D_chr10_12344547_12840545 | 12775424 | AGGTGAGA others(689): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG02080.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0017others(1): Show | a0001c0001t0001g0046a0001c0001t0012g0174a0001c0001t0017g0198others(1): Show | 4 | 214 | 0.0187 | -696 | c.565 others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| FZR1_chr19_3501311_3543334 | 3529690 | GGATGGTT others(689): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0077 | 1 | 314 | 0.0032 | -696 | c.655 others(16): Show |
FZR1 | ENSG00000105325.15 | transcript | ENST00000441788.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| FZR1_chr19_3501311_3543334 | 3529715 | GATGGGAG others(689): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(31): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0006a0001c0001t0007a0001c0001t0019others(9): Show | a0001c0001t0006g0010a0001c0001t0006g0012a0001c0001t0006g0013others(27): Show | 34 | 314 | 0.1083 | -696 | c.655 others(16): Show |
FZR1 | ENSG00000105325.15 | transcript | ENST00000441788.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| GALNT9_chr12_132191372_132334589 | 132223361 | ACNNNNNN others(689): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 183 | 0.0055 | -696 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| HECW1_chr7_43107647_43571001 | 43181067 | TAAGATTC others(689): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0091 | 1 | 182 | 0.0055 | -696 | c.-31 others(19): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
| MIER2_chr19_300573_349796 | 332468 | ATTTTTGT others(689): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(166): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0007a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0015others(143): Show | 169 | 384 | 0.4401 | -696 | c.243 others(17): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 3/13 | chr19 | TogoVar | ||||||
| MLLT10_chr10_21529232_21748630 | 21547663 | TGAGTAGC others(689): Show |
T | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0124 | 1 | 192 | 0.0052 | -696 | c.240 others(17): Show |
MLLT10 | ENSG00000078403.17 | transcript | ENST00000307729.12 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1023488 | TGTGGGCG others(689): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG00738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0203a0001c0001t0001g0244 | 5 | 319 | 0.0157 | -696 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
| PCP4L1_chr1_161253745_161290450 | 161263813 | AGCTCAAG others(689): Show |
A | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 402 | 0.0025 | -696 | c.9+4 others(13): Show |
PCP4L1 | ENSG00000248485.2 | transcript | ENST00000504449.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PI4KB_chr1_151286804_151332416 | 151302500 | CCAGGCCC others(689): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0223 | 1 | 330 | 0.0030 | -696 | c.152 others(17): Show |
PI4KB | ENSG00000143393.17 | transcript | ENST00000368873.6 | protein_coding | 6/11 | chr1 | TogoVar | ||||||
| PLCB1_chr20_8127266_8889900 | 8307695 | TGGATCAC others(689): Show |
T | intron_variant | MODIFIER | HG01517.hp2 NA20752.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0005 | a0001c0002t0003g0075a0001c0003t0005g0046 | 2 | 106 | 0.0189 | -696 | c.178 others(19): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PRKCA_chr17_66297613_66815743 | 66798503 | GTGGTGAC others(689): Show |
G | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 178 | 0.0056 | -696 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PSMA4_chr15_78535444_78557417 | 78556721 | GCCAGGAT others(689): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02015.hp2 NA18954.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 8 | 430 | 0.0186 | -696 | c.*77 others(11): Show |
PSMA4 | ENSG00000041357.16 | transcript | ENST00000044462.12 | protein_coding | 4305 | chr15 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 432290 | CAGATAGA others(689): Show |
C | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 212 | 0.0047 | -696 | c.111 others(19): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245976117 | CAGGGAAA others(689): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 150 | 0.0067 | -696 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| DGCR2_chr22_19031286_19127412 | 19112417 | ATGGTTTC others(688): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(61): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0006a0002c0002t0017others(8): Show | a0002c0002t0002g0006a0002c0002t0002g0133a0002c0002t0002g0134others(58): Show | 64 | 344 | 0.1861 | -695 | c.79+ others(15): Show |
DGCR2 | ENSG00000070413.21 | transcript | ENST00000263196.12 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236446871 | CTCGGACC others(688): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03516.hp1 NA18522.hp2 others(2): Show |
a0001a0006a0012 | a0001c0001a0001c0019a0006c0009others(1): Show | a0001c0001t0004a0001c0019t0001a0006c0009t0005others(1): Show | a0001c0001t0004g0175a0001c0019t0001g0106a0006c0009t0005g0066others(2): Show | 5 | 208 | 0.0240 | -695 | c.927 others(17): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 6/18 | chr2 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51871311 | ATTACATC others(688): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01074.hp1 others(25): Show |
a0001a0002a0003others(11): Show | a0001c0009a0001c0019a0001c0022others(19): Show | a0001c0009t0001a0001c0019t0001a0001c0022t0001others(20): Show | a0001c0009t0001g0103a0001c0009t0001g0106a0001c0009t0001g0123others(25): Show | 28 | 134 | 0.2090 | -695 | c.735 others(18): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 46/66 | chr6 | TogoVar | ||||||
| SCGB1A1_chr11_62414033_62428195 | 62415183 | TCTGCCTC others(688): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0063others(5): Show | 17 | 448 | 0.0380 | -695 | c.-39 others(11): Show |
SCGB1A1 | ENSG00000149021.7 | transcript | ENST00000278282.3 | protein_coding | 3849 | chr11 | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8466559 | GGGAAGAG others(688): Show |
G | downstream_gene_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 271 | 0.0037 | -695 | c.*17 others(9): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 50 | chrX | TogoVar | ||||||
| ZNF570_chr19_37464356_37493652 | 37478507 | TTTCTTCA others(688): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0225a0001c0001t0019g0227 | 2 | 380 | 0.0053 | -695 | c.256 others(17): Show |
ZNF570 | ENSG00000171827.11 | transcript | ENST00000330173.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2105976 | TGGGGCGT others(687): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 104 | 0.0096 | -694 | c.50- others(15): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 992633 | ACCCCCTG others(687): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 40 | 0.0250 | -694 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | ||||||
| GJC2_chr1_228144930_228164826 | 228160948 | ACCATCAC others(687): Show |
A | downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -694 | c.*18 others(11): Show |
GJC2 | ENSG00000198835.4 | transcript | ENST00000366714.3 | protein_coding | 1123 | chr1 | TogoVar | ||||||
| TAF13_chr1_109059140_109081003 | 109059974 | GTGTTGGC others(687): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01167.hp2 HG02155.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0004g0107a0001c0001t0004g0175a0001c0001t0004g0177others(9): Show | 13 | 414 | 0.0314 | -694 | c.*38 others(11): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 4165 | chr1 | TogoVar | ||||||
| ZDHHC11B_chr5_705355_789729 | 711119 | CCCATTTC others(687): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0229 | 1 | 271 | 0.0037 | -694 | c.*47 others(10): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 14/14 | 4995 | chr5 | TogoVar | |||||
| CFAP46_chr10_132803392_132947570 | 132914028 | CCCCGAGG others(686): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 246 | 0.0041 | -693 | c.212 others(18): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
| CUX2_chr12_111029165_111355554 | 111073160 | TCCTTCGT others(686): Show |
T | intron_variant | MODIFIER | HG02897.hp2 NA19030.hp2 |
a0001 | a0001c0009a0001c0022 | a0001c0009t0001a0001c0022t0005 | a0001c0009t0001g0035a0001c0022t0005g0034 | 2 | 100 | 0.0200 | -693 | c.63+ others(17): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FLI1_chr11_128689072_128818267 | 128812821 | AGGACTTT others(686): Show |
A | splice_region_variant | LOW | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0010a0001c0001t0002g0014others(74): Show | 78 | 328 | 0.2378 | -693 | c.*18 others(11): Show |
FLI1 | ENSG00000151702.18 | transcript | ENST00000527786.7 | protein_coding | 9/9 | chr11 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1319065 | CATGGTGG others(686): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 406 | 0.0025 | -693 | c.*51 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4308 | chr6 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186475 | GGGGAACA others(686): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 350 | 0.0029 | -693 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2514 | chr16 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186492 | GGGGAACA others(686): Show |
G | downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 350 | 0.0029 | -693 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2497 | chr16 | TogoVar | ||||||
| RAP1GAP2_chr17_2791438_3042741 | 3000404 | AATCAGCC others(686): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02818.hp2 HG02896.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0029a0001c0002t0083others(3): Show | a0001c0001t0003g0091a0001c0001t0003g0097a0001c0001t0003g0197others(7): Show | 10 | 218 | 0.0459 | -693 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3000503 | AATCAGCC others(686): Show |
A | intron_variant | MODIFIER | HG03130.hp2 HG03516.hp2 |
a0001 | a0001c0007a0001c0019 | a0001c0007t0086a0001c0019t0068 | a0001c0007t0086g0012a0001c0019t0068g0050 | 2 | 218 | 0.0092 | -693 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3000800 | AATCAGCC others(686): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0038a0001c0004t0016a0001c0004t0041others(3): Show | a0001c0001t0038g0190a0001c0004t0016g0011a0001c0004t0041g0201others(3): Show | 6 | 218 | 0.0275 | -693 | c.120 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ZNF761_chr19_53426984_53463261 | 53450141 | AAAAATAG others(686): Show |
A | intron_variant | MODIFIER | NA19080.hp2 | a0003 | a0003c0004 | a0003c0004t0012 | a0003c0004t0012g0213 | 1 | 460 | 0.0022 | -693 | c.142 others(16): Show |
ZNF761 | ENSG00000160336.17 | transcript | ENST00000684525.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| BORA_chr13_72722923_72761196 | 72725474 | TCACATGA others(685): Show |
T | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02071.hp1 HG02083.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0013a0001c0001t0002g0060others(1): Show | 11 | 388 | 0.0284 | -692 | c.-25 others(11): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 2448 | chr13 | TogoVar | ||||||
| CABYR_chr18_24134062_24166600 | 24155644 | TTCTTCTC others(685): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01934.hp1 | a0007 | a0007c0030 | a0007c0030t0001 | a0007c0030t0001g0121 | 1 | 408 | 0.0025 | -692 | c.200 others(14): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| FBXO17_chr19_38936401_38980742 | 38980050 | AGCCTGAA others(685): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02895.hp1 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0008 | a0001c0002t0002a0001c0002t0005a0001c0007t0021others(1): Show | a0001c0002t0002g0154a0001c0002t0005g0152a0001c0002t0005g0153others(2): Show | 5 | 398 | 0.0126 | -692 | c.-51 others(11): Show |
FBXO17 | ENSG00000269190.6 | transcript | ENST00000292852.9 | protein_coding | 4309 | chr19 | TogoVar | ||||||
| GRIN1_chr9_137134154_137173756 | 137144694 | GGAGGGGG others(685): Show |
G | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 298 | 0.0034 | -692 | c.394 others(15): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MYO16_chr13_108624611_109213005 | 108709397 | GGCACAAT others(685): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00642.hp1 others(33): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0005a0001c0016others(17): Show | a0001c0002t0001a0001c0002t0015a0001c0005t0001others(25): Show | a0001c0002t0001g0007a0001c0002t0001g0034a0001c0002t0001g0142others(33): Show | 36 | 152 | 0.2368 | -692 | c.293 others(17): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MZT1_chr13_72703367_72732629 | 72725474 | TCACATGA others(685): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02071.hp2 HG02132.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0192others(5): Show | 10 | 384 | 0.0260 | -692 | c.79+ others(15): Show |
MZT1 | ENSG00000204899.6 | transcript | ENST00000377818.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
| NTM_chr11_131365615_132341822 | 132070207 | AACTGACC others(685): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01884.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0074a0001c0001t0002g0022a0001c0001t0003g0032others(5): Show | 8 | 86 | 0.0930 | -692 | c.168 others(19): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| RHOBTB2_chr8_22994548_23025199 | 23012965 | AGCTAATT others(685): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02723.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0006a0001c0003t0012a0001c0007t0006 | a0001c0003t0006g0009a0001c0003t0012g0025a0001c0007t0006g0009 | 9 | 358 | 0.0251 | -692 | c.177 others(19): Show |
RHOBTB2 | ENSG00000008853.18 | transcript | ENST00000251822.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 287544 | ACCTCGCA others(685): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01243.hp1 others(12): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0040a0001c0001t0001g0043a0001c0001t0001g0086others(12): Show | 15 | 133 | 0.1128 | -692 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| ALMS1_chr2_73380836_73614916 | 73491612 | GGTTGTGT others(684): Show |
G | intron_variant | MODIFIER | NA18944.hp1 NA18956.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0029a0003c0002t0001g0030 | 2 | 248 | 0.0081 | -691 | c.953 others(17): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1888039 | GGGTTGTT others(684): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01496.hp1 HG02486.hp1 others(23): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0004a0001c0002t0001a0001c0003t0001others(19): Show | a0001c0001t0004g0138a0001c0002t0001g0048a0001c0002t0001g0049others(23): Show | 26 | 363 | 0.0716 | -691 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |