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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANP32E_chr1_150213417_150241112 | 150227793 | T | TCAAATTT others(300): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0114 | 1 | 370 | 0.0027 | 307 | c.494 others(322): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
ANXA2R_chr5_43034371_43045319 | 43043803 | T | TTATATAA others(300): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 296 | 0.0034 | 307 | c.-37 others(318): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3485 | chr5 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60365044 | A | ATGGCAGT others(300): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 334 | 0.0030 | 307 | c.149 others(322): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
ARHGAP24_chr4_85470150_86007666 | 85781574 | T | TAAAAAAA others(300): Show |
intron_variant | MODIFIER | HG01109.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0030a0001c0002t0002g0060 | 2 | 108 | 0.0185 | 307 | c.268 others(326): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGAP44_chr17_12784498_12996643 | 12850387 | T | TAAGAAAT others(300): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0227a0001c0001t0001g0228a0001c0011t0001g0215 | 3 | 230 | 0.0130 | 307 | c.54- others(324): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1825136 | C | CCACCTGT others(300): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0362 | 1 | 363 | 0.0028 | 307 | c.-48 others(324): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1825174 | C | CCACCTGT others(300): Show |
intron_variant | MODIFIER | HG01109.hp1 HG04115.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0071a0001c0004t0002g0072 | 2 | 363 | 0.0055 | 307 | c.-48 others(324): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(300): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00673.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0018others(12): Show | 22 | 280 | 0.0786 | 307 | c.-14 others(322): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARMH3_chr10_101840599_102061173 | 101886349 | A | AAAAAAAC others(300): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0108 | 1 | 262 | 0.0038 | 307 | c.186 others(326): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 24/25 | chr10 | TogoVar | ||||||
ASB16_chr17_44165704_44184084 | 44181119 | C | CGCCCGGC others(300): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01891.hp1 HG01978.hp2 others(16): Show |
a0003a0012 | a0003c0003a0012c0019 | a0003c0003t0001a0012c0019t0001 | a0003c0003t0001g0010a0003c0003t0001g0016a0003c0003t0001g0017others(10): Show | 19 | 362 | 0.0525 | 307 | c.*27 others(318): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 2036 | chr17 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47494500 | T | TAAAGTTA others(300): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03704.hp1 |
a0003a0031 | a0003c0004a0031c0060 | a0003c0004t0005a0031c0060t0001 | a0003c0004t0005g0063a0031c0060t0001g0016 | 2 | 332 | 0.0060 | 307 | c.-38 others(324): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BPIFC_chr22_32408845_32469446 | 32423939 | T | TAAAACTC others(300): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 422 | 0.0024 | 307 | c.121 others(326): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105236821 | C | CAACAACC others(300): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 72 | 0.0139 | 307 | c.694 others(324): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
BTD_chr3_15596745_15658714 | 15597524 | C | CTCATTTC others(300): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG02970.hp2 |
a0003 | a0003c0005 | a0003c0005t0005a0003c0005t0072 | a0003c0005t0005g0044a0003c0005t0072g0290 | 3 | 416 | 0.0072 | 307 | c.-43 others(318): Show |
BTD | ENSG00000169814.17 | transcript | ENST00000643237.3 | protein_coding | 4220 | chr3 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(300): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 338 | 0.0030 | 307 | c.300 others(324): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA2D2_chr3_50357613_50508634 | 50480935 | G | GAAGTGGG others(300): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03453.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0130 | 3 | 234 | 0.0128 | 307 | c.207 others(324): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40059014 | T | TTGCAAAT others(300): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02129.hp2 HG02135.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0003g0020a0001c0001t0003g0043a0001c0001t0003g0178others(27): Show | 35 | 378 | 0.0926 | 307 | c.-10 others(322): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CARD10_chr22_37485362_37524415 | 37491621 | A | AGGGGGAG others(300): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0219 | 1 | 276 | 0.0036 | 307 | c.286 others(324): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 19/19 | chr22 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894454 | G | GCACACAT others(300): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 284 | 0.0035 | 307 | c.380 others(324): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975123 | C | CCTCTGCT others(300): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 284 | 0.0035 | 307 | c.151 others(324): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975155 | T | TCCACCCT others(300): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 284 | 0.0035 | 307 | c.151 others(324): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119222686 | T | TTTGTTTT others(300): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03453.hp2 |
a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0013a0001c0004t0015g0014 | 2 | 364 | 0.0055 | 307 | c.196 others(324): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CCR9_chr3_45881543_45908174 | 45890256 | G | GAAATATA others(300): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 424 | 0.0024 | 307 | c.-29 others(324): Show |
CCR9 | ENSG00000173585.18 | transcript | ENST00000357632.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CCR9_chr3_45881543_45908174 | 45890256 | G | GAAATATA others(300): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 3 | 424 | 0.0071 | 307 | c.-29 others(324): Show |
CCR9 | ENSG00000173585.18 | transcript | ENST00000357632.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CD163L1_chr12_7349960_7449153 | 7419114 | C | CAAAACAC others(300): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0331 | 1 | 384 | 0.0026 | 307 | c.767 others(326): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
CD163L1_chr12_7349960_7449153 | 7437239 | T | TTTAAATA others(300): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0305 | 1 | 384 | 0.0026 | 307 | c.125 others(324): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
CD226_chr18_69848274_69952873 | 69894547 | A | AGAGAAAG others(300): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0142 | a0001c0001t0142g0243 | 1 | 256 | 0.0039 | 307 | c.727 others(324): Show |
CD226 | ENSG00000150637.9 | transcript | ENST00000582621.6 | protein_coding | 3/5 | chr18 | TogoVar | ||||||
CD300E_chr17_74604885_74628738 | 74624067 | T | TAAAACAC others(300): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(31): Show | a0001c0001t0001g0015a0001c0001t0001g0047a0001c0001t0001g0132others(69): Show | 145 | 450 | 0.3222 | 307 | c.-44 others(316): Show |
CD300E | ENSG00000186407.7 | transcript | ENST00000392619.2 | protein_coding | 330 | chr17 | TogoVar | ||||||
CD300E_chr17_74604885_74628738 | 74624067 | T | TAAAACAC others(300): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0055 | 1 | 450 | 0.0022 | 307 | c.-44 others(316): Show |
CD300E | ENSG00000186407.7 | transcript | ENST00000392619.2 | protein_coding | 330 | chr17 | TogoVar | ||||||
CDC14A_chr1_100347506_100525277 | 100473048 | T | TTCTTTTC others(300): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0292 | 1 | 306 | 0.0033 | 307 | c.977 others(324): Show |
CDC14A | ENSG00000079335.20 | transcript | ENST00000336454.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDC14A_chr1_100347506_100525277 | 100473048 | T | TTCTTTTC others(300): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02970.hp1 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0241a0001c0005t0008g0284a0001c0005t0008g0285 | 3 | 306 | 0.0098 | 307 | c.977 others(324): Show |
CDC14A | ENSG00000079335.20 | transcript | ENST00000336454.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDC14A_chr1_100347506_100525277 | 100473048 | T | TTCTTTTC others(300): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0004a0001c0007a0001c0011 | a0001c0004t0003a0001c0007t0003a0001c0011t0003 | a0001c0004t0003g0062a0001c0004t0003g0065a0001c0004t0003g0121others(4): Show | 7 | 306 | 0.0229 | 307 | c.977 others(324): Show |
CDC14A | ENSG00000079335.20 | transcript | ENST00000336454.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDH13_chr16_82621969_83805640 | 82794350 | T | TAAGAACA others(300): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0058 | 1 | 110 | 0.0091 | 307 | c.46- others(324): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(300): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0031 | a0002c0031t0093 | a0002c0031t0093g0309 | 1 | 334 | 0.0030 | 307 | c.-25 others(318): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104884909 | T | TGATGCCG others(300): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02258.hp2 HG02896.hp1 others(8): Show |
a0001a0011 | a0001c0005a0001c0008a0011c0027 | a0001c0005t0003a0001c0008t0003a0011c0027t0003 | a0001c0005t0003g0014a0001c0005t0003g0251a0001c0005t0003g0253others(7): Show | 11 | 328 | 0.0335 | 307 | c.177 others(324): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80799812 | T | TATATATA others(300): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 1 | 96 | 0.0104 | 307 | c.334 others(326): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251520 | T | TAAATATT others(300): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0304 | 1 | 402 | 0.0025 | 307 | c.80- others(322): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHRNA4_chr20_63338223_63366349 | 63354015 | G | GGTCCTAG others(300): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0096 | 1 | 168 | 0.0060 | 307 | c.383 others(324): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63354015 | G | GGTCCTAG others(300): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0007 | a0001c0007t0023 | a0001c0007t0023g0034 | 1 | 168 | 0.0060 | 307 | c.383 others(324): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63354015 | G | GGTCCTAG others(300): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0027 | 1 | 168 | 0.0060 | 307 | c.383 others(324): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63354095 | G | GGCACTGT others(300): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 168 | 0.0060 | 307 | c.383 others(324): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63354095 | G | GGCACTGT others(300): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(84): Show |
a0000a0001a0002 | a0000c0006a0001c0001a0001c0002others(6): Show | a0000c0006t0003a0000c0006t0004a0001c0001t0001others(22): Show | a0000c0006t0003g0109a0000c0006t0004g0095a0001c0001t0001g0066others(73): Show | 87 | 168 | 0.5179 | 307 | c.383 others(324): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63354210 | T | TGGGGGGC others(300): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 168 | 0.0060 | 307 | c.383 others(324): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63354210 | T | TGGGGGGC others(300): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG01934.hp1 others(6): Show |
a0000a0001 | a0000c0006a0001c0001a0001c0007others(2): Show | a0000c0006t0006a0001c0001t0006a0001c0001t0012others(4): Show | a0000c0006t0006g0093a0001c0001t0006g0051a0001c0001t0006g0077others(6): Show | 9 | 168 | 0.0536 | 307 | c.383 others(324): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63354271 | A | AGTCCTGG others(300): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG01884.hp2 others(22): Show |
a0000a0001a0003others(1): Show | a0000c0014a0001c0003a0003c0015others(1): Show | a0000c0014t0002a0001c0003t0002a0001c0003t0011others(3): Show | a0000c0014t0002g0023a0001c0003t0002g0002a0001c0003t0002g0003others(14): Show | 25 | 168 | 0.1488 | 307 | c.383 others(324): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63354360 | G | GGCAAGAA others(300): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0000 | a0000c0006 | a0000c0006t0028 | a0000c0006t0028g0079 | 1 | 168 | 0.0060 | 307 | c.383 others(324): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(300): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0028 | a0002c0028t0004 | a0002c0028t0004g0340 | 1 | 344 | 0.0029 | 307 | c.85- others(324): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255826 | A | AGGGGAAA others(300): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0076 | a0001c0076t0003 | a0001c0076t0003g0078 | 1 | 344 | 0.0029 | 307 | c.85- others(324): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45988234 | C | CGGGAGTC others(300): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0061 | 1 | 128 | 0.0078 | 307 | c.804 others(322): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CP_chr3_149167497_149226829 | 149191550 | T | TAAGATCA others(300): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG03098.hp2 others(6): Show |
a0001a0002a0017 | a0001c0014a0002c0002a0002c0006others(1): Show | a0001c0014t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0014t0001g0221a0002c0002t0001g0300a0002c0002t0002g0275others(6): Show | 9 | 376 | 0.0239 | 307 | c.171 others(326): Show |
CP | ENSG00000047457.14 | transcript | ENST00000264613.11 | protein_coding | 9/18 | chr3 | TogoVar |