| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HIGD1C_chr12_50947544_50975607 | 50948866 | G | GGGGGGAG others(511): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 380 | 0.0026 | 518 | c.-39 others(529): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3677 | chr12 | TogoVar | ||||||
| IDUA_chr4_982044_1009564 | 999651 | C | CGGCCCCC others(511): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0350 | 1 | 426 | 0.0024 | 518 | c.300 others(533): Show |
IDUA | ENSG00000127415.13 | transcript | ENST00000514224.2 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| IFNAR1_chr21_33319970_33364864 | 33323080 | T | TATATATA others(511): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 323 | 0.0031 | 518 | c.-19 others(529): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1889 | chr21 | TogoVar | ||||||
| IGLON5_chr19_51306644_51335891 | 51310594 | A | ACCTGGAC others(511): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 418 | 0.0024 | 518 | c.-12 others(529): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 1049 | chr19 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(511): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0008 | 1 | 158 | 0.0063 | 518 | c.*11 others(539): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| JAKMIP3_chr10_132060946_132189858 | 132173141 | T | TCCCCCTC others(511): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0152 | 1 | 158 | 0.0063 | 518 | c.*11 others(539): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KIAA0930_chr22_45187244_45245894 | 45228791 | A | ACACTCAC others(511): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0008 | a0001c0008t0113 | a0001c0008t0113g0089 | 1 | 398 | 0.0025 | 518 | c.64+ others(535): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIF3B_chr20_32272651_32340011 | 32322764 | A | ATATTTAT others(511): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0003 | 1 | 242 | 0.0041 | 518 | c.174 others(537): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124471507 | T | TTTTTTAT others(511): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 260 | 0.0039 | 518 | c.125 others(535): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 857706 | C | CAGTGGTG others(511): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0268 | 1 | 294 | 0.0034 | 518 | c.153 others(537): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 922515 | A | AGAAAGTT others(511): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0007 | a0007c0046 | a0007c0046t0004 | a0007c0046t0004g0036 | 1 | 294 | 0.0034 | 518 | c.515 others(537): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 922515 | A | AGAAAGTT others(511): Show |
intron_variant | MODIFIER | HG03239.hp1 NA20805.hp2 |
a0001a0008 | a0001c0010a0008c0036 | a0001c0010t0001a0008c0036t0003 | a0001c0010t0001g0279a0008c0036t0003g0277 | 2 | 294 | 0.0068 | 518 | c.515 others(537): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCGGT others(511): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0271 | 1 | 414 | 0.0024 | 518 | c.171 others(535): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCGGTG others(511): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0268 | 1 | 414 | 0.0024 | 518 | c.171 others(535): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LRRC74A_chr14_76821408_76875304 | 76867095 | T | TGTGGGGT others(511): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 408 | 0.0025 | 518 | c.130 others(535): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MBNL3_chrX_132364320_132494038 | 132396715 | C | CATATATA others(511): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0186 | 1 | 191 | 0.0052 | 518 | c.343 others(535): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
| MCF2L2_chr3_183173041_183433619 | 183314939 | T | TTTTGAGA others(511): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0004 | a0004c0004t0012 | a0004c0004t0012g0019 | 1 | 176 | 0.0057 | 518 | c.753 others(535): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| MCF2L2_chr3_183173041_183433619 | 183314939 | T | TTTTGAGA others(511): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01884.hp2 HG02109.hp2 |
a0009a0025 | a0009c0010a0025c0031 | a0009c0010t0013a0025c0031t0003 | a0009c0010t0013g0070a0009c0010t0013g0116a0025c0031t0003g0074 | 3 | 176 | 0.0171 | 518 | c.753 others(535): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(511): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0005 | a0005c0005 | a0005c0005t0006 | a0005c0005t0006g0215 | 1 | 292 | 0.0034 | 518 | c.218 others(533): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43432775 | A | AGAGAGAG others(511): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 250 | 0.0040 | 518 | c.225 others(535): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(511): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0120 | 1 | 364 | 0.0028 | 518 | c.394 others(533): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(511): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 223 | 0.0045 | 518 | c.289 others(535): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(511): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0169 | 1 | 223 | 0.0045 | 518 | c.289 others(535): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NAALADL2_chr3_174854334_175815548 | 175670392 | A | ATTATATT others(511): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0038 | 1 | 64 | 0.0156 | 518 | c.189 others(539): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCGGT others(511): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 384 | 0.0026 | 518 | c.-41 others(529): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCGGTG others(511): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 384 | 0.0026 | 518 | c.-41 others(529): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(511): Show |
intron_variant | MODIFIER | HG02300.hp1 NA19070.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0005 | a0001c0002t0003g0062a0001c0003t0005g0267 | 2 | 362 | 0.0055 | 518 | c.-75 others(537): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTG others(511): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 518 | c.*26 others(529): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | ||||||
| NRCAM_chr7_108142649_108461436 | 108163892 | G | GGGTGGGG others(511): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 208 | 0.0048 | 518 | c.346 others(537): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(511): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0231 | 1 | 386 | 0.0026 | 518 | c.*92 others(529): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(511): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01070.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0005a0001c0001t0006a0001c0001t0016others(6): Show | a0001c0001t0005g0047a0001c0001t0005g0113a0001c0001t0005g0114others(26): Show | 31 | 386 | 0.0803 | 518 | c.*92 others(529): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(511): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0076 | a0001c0005t0076g0292 | 1 | 386 | 0.0026 | 518 | c.*92 others(529): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGACGGGG others(511): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0328 | 1 | 386 | 0.0026 | 518 | c.*92 others(529): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGAGGGAG others(511): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0347 | 1 | 386 | 0.0026 | 518 | c.*92 others(529): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(511): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015 | a0001c0001t0013g0220a0001c0001t0015g0239a0001c0001t0015g0240 | 3 | 242 | 0.0124 | 518 | c.360 others(537): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(511): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0238 | 1 | 242 | 0.0041 | 518 | c.360 others(537): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237646 | A | ATATACTA others(511): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01192.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 2 | 439 | 0.0046 | 518 | c.-16 others(529): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1639 | chr14 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237715 | A | ATATAGTA others(511): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 439 | 0.0023 | 518 | c.-16 others(529): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1570 | chr14 | TogoVar | ||||||
| OSGIN1_chr16_83948240_83971332 | 83950857 | A | ACACACGT others(511): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 HG02132.hp2 HG02155.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0001a0001c0003t0004g0051 | 4 | 350 | 0.0114 | 518 | c.-25 others(529): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2382 | chr16 | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1473769 | A | ATGGATGG others(511): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0027 | 1 | 114 | 0.0088 | 518 | c.-24 others(535): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(511): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0011 | 1 | 400 | 0.0025 | 518 | c.*70 others(529): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTG others(511): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0026 | 1 | 408 | 0.0025 | 518 | c.-10 others(535): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| PRPF31_chr19_54110754_54136713 | 54133769 | C | CTCCCTCC others(511): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 227 | 0.0044 | 518 | c.*23 others(529): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2057 | chr19 | TogoVar | ||||||
| PTDSS2_chr11_445279_496399 | 459095 | G | GACACACT others(511): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 346 | 0.0029 | 518 | c.183 others(535): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(511): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0124 | 1 | 295 | 0.0034 | 518 | c.126 others(537): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114044388 | C | CGCCCGCC others(511): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 67 | 0.0149 | 518 | c.278 others(535): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | ||||||
| RBFOX3_chr17_79084345_79616051 | 79554286 | T | TCCTCTCC others(511): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 154 | 0.0065 | 518 | c.-32 others(539): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80355397 | A | ACGGGAAT others(511): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0273 | 1 | 292 | 0.0034 | 518 | c.108 others(537): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 218312 | C | CCCAAGGC others(511): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0005 | 1 | 133 | 0.0075 | 518 | c.727 others(535): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 218333 | T | TTGGGGCA others(511): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0035 | 1 | 133 | 0.0075 | 518 | c.727 others(535): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar |