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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AFDN_chr6_167821911_167977023 | 167905660 | T | TAAAAACA others(294): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 NA19030.hp1 |
a0001a0002 | a0001c0006a0002c0029 | a0001c0006t0001a0002c0029t0001 | a0001c0006t0001g0312a0001c0006t0001g0316a0002c0029t0001g0323 | 3 | 326 | 0.0092 | 301 | c.165 others(320): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKT3_chr1_243494724_243855243 | 243525837 | G | GGGAGGAG others(294): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 301 | 0.0033 | 301 | c.125 others(322): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8363566 | T | TCTTTTCT others(294): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG02976.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0011 | a0003c0003t0001g0023a0003c0003t0001g0094a0003c0003t0011g0095 | 5 | 408 | 0.0123 | 301 | c.-75 others(310): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 588 | chr19 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5660426 | T | TAGAACAC others(294): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 162 | 0.0062 | 301 | c.154 others(322): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 14/24 | chr12 | TogoVar | ||||||
ANP32E_chr1_150213417_150241112 | 150227793 | T | TCAAATTT others(294): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00621.hp2 others(24): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(5): Show | a0001c0002t0001g0085a0001c0002t0001g0086a0001c0002t0001g0087others(24): Show | 27 | 370 | 0.0730 | 301 | c.494 others(316): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152804213 | T | TATATATA others(294): Show |
intron_variant | MODIFIER | HG04184.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107a0001c0001t0002g0336 | 2 | 342 | 0.0059 | 301 | c.-10 others(320): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1844406 | C | CGGGAGAA others(294): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01346.hp1 HG01884.hp1 others(17): Show |
a0001a0004a0020 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0019a0001c0002t0001others(15): Show | a0001c0001t0002g0066a0001c0001t0019g0278a0001c0002t0001g0037others(17): Show | 20 | 363 | 0.0551 | 301 | c.37+ others(314): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1844406 | C | CGGGAGAA others(294): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0101 | a0001c0101t0001 | a0001c0101t0001g0040 | 1 | 363 | 0.0028 | 301 | c.37+ others(314): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909129 | A | AGGGAGGC others(294): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 384 | 0.0026 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909139 | T | TGGCAGGA others(294): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0276 | 1 | 384 | 0.0026 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909139 | T | TGGCAGGA others(294): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0305 | 1 | 384 | 0.0026 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909139 | T | TGGCAGGA others(294): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(90): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0030a0001c0001t0001g0045a0001c0001t0001g0050others(90): Show | 93 | 384 | 0.2422 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909139 | T | TGGCAGGA others(294): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0019 | 1 | 384 | 0.0026 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909139 | T | TGGCAGGA others(294): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(189): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(189): Show | 192 | 384 | 0.5000 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909139 | T | TGGCAGGA others(294): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0032 | 2 | 384 | 0.0052 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909139 | T | TGGCAGGA others(294): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0230 | 2 | 384 | 0.0052 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909139 | T | TGGCAGGA others(294): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 384 | 0.0026 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909139 | T | TGGCAGGA others(294): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18989.hp1 NA19004.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0003t0004 | a0001c0001t0016g0142a0001c0001t0016g0211a0001c0003t0004g0066 | 3 | 384 | 0.0078 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATCAY_chr19_3875685_3933082 | 3909139 | T | TGGCAGGA others(294): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0355 | 1 | 384 | 0.0026 | 301 | c.648 others(316): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(294): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0011 | a0001c0011t0065 | a0001c0011t0065g0130 | 1 | 254 | 0.0039 | 301 | c.39+ others(318): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(294): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0005 | a0001c0005t0036 | a0001c0005t0036g0172 | 1 | 254 | 0.0039 | 301 | c.39+ others(318): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112723294 | C | CCCCCCAC others(294): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 254 | 0.0039 | 301 | c.39+ others(318): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B4_chr15_49853238_50124233 | 50085971 | G | GATATATA others(294): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0250 | 1 | 254 | 0.0039 | 301 | c.29- others(318): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82971776 | A | ACAGGGGC others(294): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02027.hp2 HG02132.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0002a0001c0002t0002a0002c0005t0003others(1): Show | a0001c0001t0002g0058a0001c0002t0002g0086a0002c0005t0003g0056others(2): Show | 5 | 266 | 0.0188 | 301 | c.460 others(318): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61271973 | C | CTATTTTT others(294): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG03540.hp1 others(1): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0001a0002c0003t0001a0002c0005t0002others(1): Show | a0001c0002t0001g0059a0002c0003t0001g0037a0002c0005t0002g0074others(1): Show | 4 | 74 | 0.0541 | 301 | c.242 others(322): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPIFC_chr22_32408845_32469446 | 32423939 | T | TAAAACTC others(294): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01123.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0152a0003c0003t0001g0311a0003c0003t0001g0312 | 3 | 422 | 0.0071 | 301 | c.121 others(320): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004539 | G | GTGATGAT others(294): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 NA20300.hp1 |
a0015a0022 | a0015c0015a0022c0022 | a0015c0015t0000a0022c0022t0000 | a0015c0015t0000g0043a0015c0015t0000g0044a0022c0022t0000g0045 | 3 | 346 | 0.0087 | 301 | c.963 others(318): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515291 | C | CATCCACC others(294): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 450 | 0.0022 | 301 | c.79+ others(314): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf90_chr8_141509671_141523729 | 141515302 | C | CCACACTT others(294): Show |
intron_variant | MODIFIER | HG02683.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0072 | 2 | 450 | 0.0044 | 301 | c.79+ others(314): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf90_chr8_141509671_141523729 | 141515302 | C | CCACACTT others(294): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0074 | 2 | 450 | 0.0044 | 301 | c.79+ others(314): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf90_chr8_141509671_141523729 | 141515302 | C | CCACACTT others(294): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0076a0001c0002t0001g0075 | 2 | 450 | 0.0044 | 301 | c.79+ others(314): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(294): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0011 | a0011c0020 | a0011c0020t0006 | a0011c0020t0006g0061 | 1 | 338 | 0.0030 | 301 | c.300 others(318): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39602010 | T | TTCCCTCC others(294): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0198 | 1 | 236 | 0.0042 | 301 | c.482 others(318): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39602018 | C | CTCCTTCC others(294): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0210 | 1 | 236 | 0.0042 | 301 | c.482 others(318): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CAMSAP1_chr9_135803487_135912546 | 135847949 | G | GGGGAAGG others(294): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0339 | 1 | 340 | 0.0029 | 301 | c.104 others(320): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004406 | G | GGGAGAGG others(294): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 394 | 0.0051 | 301 | c.-14 others(320): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182074 | A | ACTCACAC others(294): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 460 | 0.0022 | 301 | c.193 others(318): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CATSPERB_chr14_91575698_91737086 | 91658709 | T | TAAAAAAA others(294): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0255 | 1 | 271 | 0.0037 | 301 | c.143 others(320): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
CCKAR_chr4_26476396_26495484 | 26484866 | A | ACCCAATC others(294): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0094a0001c0001t0009g0046 | 2 | 454 | 0.0044 | 301 | c.626 others(316): Show |
CCKAR | ENSG00000163394.6 | transcript | ENST00000295589.4 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
CD5_chr11_61097489_61132852 | 61100156 | A | ACATCAAC others(294): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 244 | 0.0041 | 301 | c.-24 others(312): Show |
CD5 | ENSG00000110448.11 | transcript | ENST00000347785.8 | protein_coding | 2332 | chr11 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61337298 | A | ATGATGAT others(294): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(34): Show | a0001c0001t0001g0006a0001c0001t0001g0032a0001c0001t0002g0076others(42): Show | 45 | 106 | 0.4245 | 301 | c.169 others(320): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61475505 | T | TCTCCCTC others(294): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0004 | a0001c0001t0011g0005a0001c0001t0011g0033a0002c0002t0004g0070 | 3 | 106 | 0.0283 | 301 | c.169 others(322): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61475505 | T | TCTCCCTC others(294): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02559.hp2 HG03195.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0002a0001c0003t0052a0001c0010t0001others(2): Show | a0001c0001t0002g0088a0001c0003t0052g0064a0001c0010t0001g0027others(2): Show | 5 | 106 | 0.0472 | 301 | c.169 others(322): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251516 | A | AAAATAAA others(294): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03139.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0014 | 4 | 402 | 0.0100 | 301 | c.80- others(316): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CLASP2_chr3_33491245_33723254 | 33681093 | C | CCAGCCTG others(294): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 278 | 0.0036 | 301 | c.644 others(318): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 6/38 | chr3 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74369677 | T | TGAAACCC others(294): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 278 | 0.0036 | 301 | c.138 others(320): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CMPK1_chr1_47328790_47383839 | 47359371 | T | TAAGAAAC others(294): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02257.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0001 | a0001c0001t0005g0118a0001c0001t0005g0123a0001c0004t0001g0097others(1): Show | 4 | 364 | 0.0110 | 301 | c.172 others(318): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CMPK1_chr1_47328790_47383839 | 47359374 | G | GAAACCTT others(294): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02717.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0319 | 3 | 364 | 0.0082 | 301 | c.172 others(318): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 35975467 | A | ATTTTTTT others(294): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 268 | 0.0037 | 301 | c.190 others(316): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNOT3_chr19_54132762_54160681 | 54133800 | C | CCCTCCCT others(294): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 223 | 0.0045 | 301 | c.-42 others(312): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3961 | chr19 | TogoVar |