| 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 | 76393033 | GGTCAGGT others(831): Show |
G | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 346 | 0.0029 | -838 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| BANP_chr16_87946434_88082316 | 88053453 | TCATCATC others(830): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG03098.hp2 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0160a0001c0012t0001g0161 | 2 | 352 | 0.0057 | -837 | c.131 others(21): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| FBXL17_chr5_107854035_108387098 | 107862783 | AGATCAGG others(830): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG01934.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0152a0001c0001t0001g0203a0001c0001t0008g0058 | 3 | 244 | 0.0123 | -837 | c.196 others(18): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 8/8 | chr5 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89361834 | ACCACTAC others(830): Show |
A | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 230 | 0.0044 | -837 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| GRIP1_chr12_66342431_66684076 | 66362372 | CCAACTCC others(830): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03486.hp1 HG03486.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0017a0002c0002t0007g0085a0002c0002t0007g0088others(1): Show | 4 | 224 | 0.0179 | -837 | c.301 others(19): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 23/24 | chr12 | TogoVar | ||||||
| OR7C1_chr19_14793515_14840185 | 14810855 | TTTCTTCA others(830): Show |
T | intron_variant | MODIFIER | HG02071.hp1 HG02129.hp2 HG03017.hp2 others(4): Show |
a0008 | a0008c0007 | a0008c0007t0009a0008c0007t0016 | a0008c0007t0009g0014a0008c0007t0009g0089a0008c0007t0009g0168others(3): Show | 7 | 408 | 0.0172 | -837 | c.-62 others(18): Show |
OR7C1 | ENSG00000127530.4 | transcript | ENST00000641666.2 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3092776 | AGCGCCTA others(830): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0273 | 1 | 340 | 0.0029 | -837 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| STK33_chr11_8386870_8599228 | 8448857 | TGGGAGAA others(830): Show |
T | intron_variant | MODIFIER | HG02145.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0019a0002c0004t0013 | a0001c0001t0019g0119a0002c0004t0013g0030 | 2 | 334 | 0.0060 | -837 | c.871 others(17): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 11/15 | chr11 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133135401 | AGGTCCCT others(829): Show |
A | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0216 | 1 | 368 | 0.0027 | -836 | c.*58 others(11): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 3727 | chr10 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133135411 | TGGGGGGG others(829): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0031 | 1 | 368 | 0.0027 | -836 | c.*59 others(11): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 3737 | chr10 | TogoVar | ||||||
| AP4S1_chr14_31020649_31101450 | 31073306 | CGGTGAAA others(829): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0007 | 1 | 346 | 0.0029 | -836 | c.294 others(16): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| C7orf50_chr7_992006_1143247 | 1128411 | CGTCACCC others(829): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(8): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0006a0001c0001t0017a0008c0009t0006 | a0001c0001t0006g0081a0001c0001t0006g0087a0001c0001t0006g0091others(8): Show | 11 | 326 | 0.0337 | -836 | c.-1- others(15): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713141 | TCACCTCC others(829): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 1 | 412 | 0.0024 | -836 | c.*32 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1425 | chr19 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713380 | TCCCATCC others(829): Show |
T | downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 412 | 0.0024 | -836 | c.*29 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1186 | chr19 | TogoVar | ||||||
| NAALADL2_chr3_174854334_175815548 | 175670406 | ACATTAAA others(829): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03453.hp1 |
a0003 | a0003c0003a0003c0007 | a0003c0003t0004a0003c0007t0001 | a0003c0003t0004g0046a0003c0007t0001g0064 | 2 | 64 | 0.0313 | -836 | c.189 others(21): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RPS6KC1_chr1_213046241_213279774 | 213151257 | CGGGCAGA others(829): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281a0001c0001t0003g0283a0001c0001t0003g0284others(2): Show | 5 | 330 | 0.0152 | -836 | c.836 others(19): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZCCHC2_chr18_62518025_62583579 | 62580618 | CAGGTGGA others(829): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(108): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0003a0001c0045others(8): Show | a0001c0001t0005a0001c0001t0021a0001c0003t0002others(17): Show | a0001c0001t0005g0103a0001c0001t0021g0185a0001c0003t0002g0029others(102): Show | 111 | 312 | 0.3558 | -836 | c.*40 others(11): Show |
ZCCHC2 | ENSG00000141664.10 | transcript | ENST00000269499.10 | protein_coding | 2040 | chr18 | TogoVar | ||||||
| ZCCHC2_chr18_62518025_62583579 | 62580770 | CGGTGTCA others(829): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(114): Show |
a0001a0002a0011others(3): Show | a0001c0001a0001c0010a0001c0019others(13): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(19): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0027others(111): Show | 117 | 312 | 0.3750 | -836 | c.*41 others(11): Show |
ZCCHC2 | ENSG00000141664.10 | transcript | ENST00000269499.10 | protein_coding | 2192 | chr18 | TogoVar | ||||||
| INIP_chr9_112678926_112723117 | 112681970 | ATTTTTAG others(828): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02818.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0173a0001c0001t0011g0174a0001c0001t0011g0273 | 3 | 372 | 0.0081 | -835 | c.*47 others(11): Show |
INIP | ENSG00000148153.14 | transcript | ENST00000374242.9 | protein_coding | 1955 | chr9 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124506961 | TGGGCGGG others(828): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 260 | 0.0039 | -835 | c.624 others(17): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1561796 | TGGGGTGT others(827): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01361.hp1 HG01496.hp1 others(13): Show |
a0002a0004 | a0002c0001a0002c0004a0002c0006others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(11): Show | a0002c0001t0001g0018a0002c0001t0002g0013a0002c0001t0002g0032others(13): Show | 16 | 40 | 0.4000 | -834 | c.123 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DPP6_chr7_154047398_154899285 | 154061050 | TTACGATC others(827): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0015 | 1 | 38 | 0.0263 | -834 | c.243 others(17): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | chr7 | TogoVar | ||||||
| MARCHF1_chr4_163519718_164389019 | 163737146 | CTCGCAGC others(827): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01109.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0038a0001c0001t0001g0078others(7): Show | 10 | 102 | 0.0980 | -834 | c.112 others(19): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 321947 | CTGTTAGA others(826): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0078 | 1 | 88 | 0.0114 | -833 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(826): Show |
A | downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 350 | 0.0029 | -833 | c.*23 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| MPZL1_chr1_167716982_167796919 | 167796086 | TCCATCCA others(826): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086a0001c0001t0002g0201 | 2 | 378 | 0.0053 | -833 | c.*81 others(11): Show |
MPZL1 | ENSG00000197965.12 | transcript | ENST00000359523.7 | protein_coding | 4168 | chr1 | TogoVar | ||||||
| SBNO1_chr12_123284109_123369847 | 123353393 | TTCCAATG others(826): Show |
T | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0185 | 1 | 260 | 0.0039 | -833 | c.1-3 others(13): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 1/31 | chr12 | TogoVar | ||||||
| FLNB_chr3_58003422_58177251 | 58163939 | AAAGTGAG others(825): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0036 | a0002c0036t0009 | a0002c0036t0009g0075 | 1 | 180 | 0.0056 | -832 | c.719 others(18): Show |
FLNB | ENSG00000136068.16 | transcript | ENST00000295956.9 | protein_coding | 43/45 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 904218 | AGGACGCC others(825): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02818.hp2 |
a0001a0004 | a0001c0023a0004c0025 | a0001c0023t0001a0004c0025t0007 | a0001c0023t0001g0246a0004c0025t0007g0259a0004c0025t0007g0294 | 3 | 294 | 0.0102 | -832 | c.663 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560525 | TGGAGGAG others(825): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 180 | 0.0056 | -832 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1106837 | CCTTGGTA others(825): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01074.hp1 others(20): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(8): Show | a0001c0001t0001g0058a0001c0001t0001g0062a0001c0001t0001g0078others(20): Show | 23 | 190 | 0.1211 | -832 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1107522 | TAGTGGAC others(825): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0072 | 1 | 190 | 0.0053 | -832 | c.325 others(18): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| THEG_chr19_356747_381026 | 360105 | CAGGAGCG others(825): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0144 | 1 | 370 | 0.0027 | -832 | c.*12 others(11): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1641 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 360163 | TCTCAGCA others(825): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0123 | 1 | 370 | 0.0027 | -832 | c.*12 others(11): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1583 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 360179 | GGCTGGTT others(825): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 370 | 0.0027 | -832 | c.*11 others(11): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1567 | chr19 | TogoVar | ||||||
| PPP1R12C_chr19_55085918_55122637 | 55093394 | TCCTCCCT others(824): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(149): Show |
a0001a0005a0009 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0021others(102): Show | 152 | 390 | 0.3897 | -831 | c.168 others(17): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 13/21 | chr19 | TogoVar | ||||||
| PPP1R12C_chr19_55085918_55122637 | 55093467 | TCCTCCCT others(824): Show |
T | intron_variant | MODIFIER | HG02818.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0120 | 2 | 390 | 0.0051 | -831 | c.168 others(16): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 13/21 | chr19 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66798503 | GTGGTGAC others(824): Show |
G | intron_variant | MODIFIER | HG02148.hp2 NA19085.hp2 NA19091.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0006a0001c0002t0011a0001c0004t0059 | a0001c0002t0006g0036a0001c0002t0011g0004a0001c0004t0059g0174 | 3 | 178 | 0.0169 | -831 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SDK2_chr17_73329384_73649445 | 73373872 | GGTGATCT others(824): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01074.hp1 others(50): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0068others(46): Show | a0001c0001t0001g0013a0001c0001t0001g0128a0001c0001t0015g0049others(50): Show | 53 | 204 | 0.2598 | -831 | c.498 others(19): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 36/44 | chr17 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137567019 | CTCTGTCT others(823): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 340 | 0.0029 | -830 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| LIN28B_chr6_104952107_105088332 | 105050575 | GTCCAGCC others(823): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0017a0001c0001t0009g0061a0001c0001t0009g0227 | 3 | 278 | 0.0108 | -830 | c.383 others(19): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PPP2R2D_chr10_131896008_131964834 | 131952311 | GTGCGGGG others(823): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02738.hp2 HG03195.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0259a0001c0001t0001g0260others(7): Show | 11 | 394 | 0.0279 | -830 | c.108 others(19): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1904515 | CGGAACTC others(822): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01070.hp2 others(59): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0077a0001c0001t0001g0101a0001c0001t0001g0102others(59): Show | 62 | 264 | 0.2349 | -829 | c.180 others(19): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| NSUN6_chr10_18540561_18656587 | 18561727 | TAGAATAT others(822): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0293a0001c0001t0011g0294 | 2 | 346 | 0.0058 | -829 | c.923 others(18): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
| AVPI1_chr10_97672424_97692241 | 97683862 | GGGTCAGC others(821): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 446 | 0.0022 | -828 | c.-11 others(17): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1/2 | chr10 | TogoVar | ||||||
| LMLN_chr3_197955217_198048720 | 198004405 | CCATCTAT others(821): Show |
C | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 258 | 0.0039 | -828 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RSPH3_chr6_158967871_159005202 | 158997850 | TATTTTAG others(821): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG02602.hp1 others(2): Show |
a0006 | a0006c0006 | a0006c0006t0008a0006c0006t0011 | a0006c0006t0008g0036a0006c0006t0008g0037a0006c0006t0008g0038others(2): Show | 5 | 302 | 0.0166 | -828 | c.116 others(16): Show |
RSPH3 | ENSG00000130363.13 | transcript | ENST00000367069.7 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 259201 | AGCTCCGC others(821): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01256.hp2 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0016a0001c0001t0002g0046others(1): Show | 5 | 266 | 0.0188 | -828 | c.*27 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2120 | chr5 | TogoVar | ||||||
| ARHGAP42_chr11_100682288_100998941 | 100696607 | AGCCTCCC others(820): Show |
A | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0170 | 1 | 286 | 0.0035 | -827 | c.154 others(17): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53920347 | GTTTCCCC others(820): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 364 | 0.0028 | -827 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |