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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NRXN3_chr14_78165373_79873291 | 79257520 | G | GTGGTGGT others(755): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0007 | 1 | 24 | 0.0417 | 762 | c.326 others(785): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2123213 | G | GTGGTTAG others(755): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 286 | 0.0035 | 762 | c.335 others(781): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RANBP10_chr16_67718070_67811560 | 67809198 | G | GGTGGCTC others(755): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047a0001c0001t0003g0051 | 2 | 152 | 0.0132 | 762 | c.-26 others(773): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2639 | chr16 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGGAC others(755): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0106 | 1 | 133 | 0.0075 | 762 | c.351 others(781): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SLC22A7_chr6_43293260_43310538 | 43294283 | C | CCATCACC others(755): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 404 | 0.0025 | 762 | c.-40 others(773): Show |
SLC22A7 | ENSG00000137204.15 | transcript | ENST00000372585.10 | protein_coding | 3976 | chr6 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0041a0002c0001others(5): Show | a0001c0005t0001a0001c0041t0001a0002c0001t0001others(5): Show | a0001c0005t0001g0047a0001c0005t0001g0182a0001c0005t0001g0183others(46): Show | 51 | 348 | 0.1466 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0116 | 1 | 348 | 0.0029 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | HG03688.hp1 HG04204.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0217a0002c0001t0001g0250 | 2 | 348 | 0.0058 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 348 | 0.0029 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 348 | 0.0029 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(63): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0005a0001c0027others(6): Show | a0001c0002t0001a0001c0005t0001a0001c0027t0001others(6): Show | a0001c0002t0001g0005a0001c0002t0001g0032a0001c0002t0001g0044others(58): Show | 66 | 348 | 0.1897 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0029 | a0029c0031 | a0029c0031t0001 | a0029c0031t0001g0269 | 1 | 348 | 0.0029 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18960.hp2 NA18966.hp1 others(4): Show |
a0001a0002a0023 | a0001c0002a0001c0005a0001c0010others(2): Show | a0001c0002t0001a0001c0005t0001a0001c0010t0001others(2): Show | a0001c0002t0001g0068a0001c0005t0001g0151a0001c0010t0001g0111others(4): Show | 7 | 348 | 0.0201 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 348 | 0.0029 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01975.hp2 NA18942.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0001 | a0001c0002t0001a0001c0010t0001a0002c0001t0001 | a0001c0002t0001g0006a0001c0002t0001g0053a0001c0002t0001g0065others(4): Show | 8 | 348 | 0.0230 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(755): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0026 | a0026c0029 | a0026c0029t0001 | a0026c0029t0001g0067 | 1 | 348 | 0.0029 | 762 | c.600 others(781): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(755): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0005a0001c0027t0001 | a0001c0001t0005g0165a0001c0027t0001g0172 | 2 | 360 | 0.0056 | 762 | c.*62 others(773): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | ||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(755): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 360 | 0.0028 | 762 | c.*62 others(773): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418742 | T | TTTCATTC others(755): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0113 | 1 | 114 | 0.0088 | 762 | c.215 others(779): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TNS1_chr2_217794791_218007995 | 217805612 | C | CACCACAC others(755): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00609.hp1 others(22): Show |
a0001a0003a0006others(1): Show | a0001c0002a0001c0005a0001c0006others(8): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0008others(16): Show | a0001c0002t0003g0028a0001c0002t0003g0033a0001c0002t0003g0052others(22): Show | 25 | 244 | 0.1025 | 762 | c.537 others(781): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204100 | T | TATACTAT others(755): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0021 | 1 | 174 | 0.0058 | 762 | c.41- others(779): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TSNAXIP1_chr16_67801889_67833068 | 67809198 | G | GGTGGCTC others(755): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0089 | 2 | 256 | 0.0078 | 762 | c.47+ others(777): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(755): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074a0001c0001t0001g0205a0001c0001t0002g0056others(4): Show | 7 | 338 | 0.0207 | 762 | c.*35 others(781): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(755): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0197a0001c0001t0001g0198 | 3 | 338 | 0.0089 | 762 | c.*35 others(781): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(755): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 338 | 0.0030 | 762 | c.*35 others(781): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(755): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 338 | 0.0030 | 762 | c.*35 others(781): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169117 | T | TCTCCCTC others(755): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0009 | 1 | 115 | 0.0087 | 762 | c.*91 others(771): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 826 | chrX | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675055 | T | TCTCCCTC others(755): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 326 | 0.0031 | 762 | c.483 others(777): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(755): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 302 | 0.0033 | 762 | c.-1- others(779): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(755): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0141 | 1 | 290 | 0.0035 | 762 | c.205 others(781): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(755): Show |
intron_variant | MODIFIER | HG03654.hp2 NA20752.hp2 NA20805.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0068a0001c0001t0001g0229a0001c0004t0002g0228 | 3 | 290 | 0.0103 | 762 | c.205 others(781): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(755): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 290 | 0.0035 | 762 | c.205 others(781): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(756): Show |
intron_variant | MODIFIER | NA20300.hp1 NA21309.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0222a0001c0007t0001g0223 | 2 | 350 | 0.0057 | 763 | c.-47 others(782): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(756): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 763 | c.*36 others(774): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(756): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 391 | 0.0026 | 763 | c.*36 others(774): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241570766 | T | TGGGGGTG others(756): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0091 | 1 | 434 | 0.0023 | 763 | c.513 others(778): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC136_chr7_128786968_128827130 | 128798317 | T | TCTTGGCT others(756): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(133): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0010others(76): Show | 136 | 380 | 0.3579 | 763 | c.347 others(780): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC136_chr7_128786968_128827130 | 128798317 | T | TCTTGGCT others(756): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 380 | 0.0026 | 763 | c.347 others(780): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC136_chr7_128786968_128827130 | 128798317 | T | TCTTGGCT others(756): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03239.hp1 HG03688.hp1 |
a0001a0012 | a0001c0001a0012c0019 | a0001c0001t0001a0012c0019t0001 | a0001c0001t0001g0143a0001c0001t0001g0144a0012c0019t0001g0145 | 3 | 380 | 0.0079 | 763 | c.347 others(780): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC136_chr7_128786968_128827130 | 128798317 | T | TCTTGGCT others(756): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 380 | 0.0026 | 763 | c.347 others(780): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(756): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18906.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0025a0001c0001t0049a0001c0009t0075 | a0001c0001t0025g0297a0001c0001t0049g0296a0001c0009t0075g0195 | 3 | 324 | 0.0093 | 763 | c.127 others(782): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17432014 | T | TGTAAGTG others(756): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0134a0001c0001t0009g0135 | 2 | 324 | 0.0062 | 763 | c.127 others(782): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(756): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 264 | 0.0038 | 763 | c.181 others(782): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978158 | A | ATAAATTT others(756): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 94 | 0.0106 | 763 | c.-2+ others(780): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438432 | A | AGGAGGAG others(756): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0096 | a0096c0180 | a0096c0180t0001 | a0096c0180t0001g0230 | 1 | 252 | 0.0040 | 763 | c.118 others(782): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(756): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0067a0001c0001t0005g0066 | 2 | 198 | 0.0101 | 763 | c.105 others(782): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(756): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0160 | 1 | 198 | 0.0051 | 763 | c.105 others(782): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(756): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0017 | 2 | 198 | 0.0101 | 763 | c.105 others(782): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FLT3_chr13_27998274_28105576 | 27999085 | A | ATGTATAT others(756): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0084 | 1 | 292 | 0.0034 | 763 | c.*49 others(774): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4188 | chr13 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635756 | G | GGTGGGTG others(756): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0360 | 1 | 388 | 0.0026 | 763 | c.59- others(778): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar |