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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAMD11_chr1_918923_949574 | 934833 | C | CCGTTACA others(807): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0181 | 1 | 434 | 0.0023 | 814 | c.843 others(829): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(807): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0182 | 1 | 203 | 0.0049 | 814 | c.167 others(829): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(807): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0099 | 1 | 203 | 0.0049 | 814 | c.167 others(829): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(807): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03130.hp1 |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0006a0002c0003t0006 | a0001c0006t0006g0131a0002c0003t0006g0031 | 2 | 203 | 0.0099 | 814 | c.-12 others(833): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289509 | C | CCGTGTCT others(807): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0032 | 1 | 290 | 0.0035 | 814 | c.166 others(831): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(807): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 370 | 0.0027 | 814 | c.284 others(833): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(807): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 370 | 0.0027 | 814 | c.284 others(833): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(807): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0237 | 1 | 370 | 0.0027 | 814 | c.284 others(833): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15272534 | C | CATTACAA others(807): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 376 | 0.0027 | 814 | c.331 others(831): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(807): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 302 | 0.0033 | 814 | c.12+ others(829): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628702 | G | GGGGGTGA others(807): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0005 | a0001c0005t0023 | a0001c0005t0023g0015 | 1 | 352 | 0.0028 | 814 | c.299 others(831): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747531 | G | GCACTGGG others(807): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0211 | 1 | 314 | 0.0032 | 814 | c.189 others(829): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747573 | A | ACTGGGGT others(807): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0036 | 1 | 314 | 0.0032 | 814 | c.189 others(829): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TRAPPC12_chr2_3374694_3484565 | 3437768 | T | TCACCCCA others(807): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0131 | 1 | 344 | 0.0029 | 814 | c.141 others(833): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRAPPC12_chr2_3374694_3484565 | 3437768 | T | TCACCCCA others(807): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01891.hp2 others(31): Show |
a0001a0002a0006others(1): Show | a0001c0043a0002c0002a0002c0006others(8): Show | a0001c0043t0001a0002c0002t0002a0002c0002t0004others(12): Show | a0001c0043t0001g0333a0002c0002t0002g0038a0002c0002t0002g0132others(31): Show | 34 | 344 | 0.0988 | 814 | c.141 others(833): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRAPPC12_chr2_3374694_3484565 | 3437768 | T | TCACCCCA others(807): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02027.hp1 HG02080.hp1 others(3): Show |
a0002 | a0002c0006a0002c0022 | a0002c0006t0002a0002c0022t0002 | a0002c0006t0002g0080a0002c0006t0002g0139a0002c0006t0002g0143others(3): Show | 6 | 344 | 0.0174 | 814 | c.141 others(833): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRAPPC9_chr8_139722725_140462744 | 139755518 | G | GCAGGAGG others(807): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02723.hp2 HG02809.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0007a0001c0003t0001others(4): Show | a0001c0001t0001g0067a0001c0002t0007g0022a0001c0003t0001g0052others(5): Show | 8 | 98 | 0.0816 | 814 | c.305 others(835): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 21/22 | chr8 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870794 | A | ACACACAC others(807): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01981.hp2 HG02040.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0001g0151a0001c0001t0001g0268others(3): Show | 6 | 338 | 0.0178 | 814 | c.*35 others(833): 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(807): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 338 | 0.0030 | 814 | c.*35 others(833): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(807): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0092 | 1 | 250 | 0.0040 | 814 | c.82+ others(829): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(807): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02922.hp2 HG03579.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0003a0001c0004t0004g0133 | 6 | 202 | 0.0297 | 814 | c.*53 others(825): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292712 | G | GACTCTAG others(807): Show |
intron_variant | MODIFIER | HG01243.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165a0001c0001t0003g0200a0001c0001t0003g0201 | 3 | 404 | 0.0074 | 814 | c.339 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46293794 | G | GACTCAGT others(807): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 404 | 0.0025 | 814 | c.339 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46293880 | A | ACAGCCAC others(807): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 | 1 | 404 | 0.0025 | 814 | c.340 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294008 | G | GTGCCCGG others(807): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 404 | 0.0025 | 814 | c.340 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294250 | T | TCAGCCAC others(807): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0330 | 1 | 404 | 0.0025 | 814 | c.340 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294250 | T | TCAGCCAC others(807): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312 | 1 | 404 | 0.0025 | 814 | c.340 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294250 | T | TCAGCCAC others(807): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 404 | 0.0025 | 814 | c.340 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294398 | A | ACAGCCAC others(807): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 404 | 0.0025 | 814 | c.340 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294406 | A | ACAAGTTA others(807): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0329 | 1 | 404 | 0.0025 | 814 | c.340 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(807): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0363 | 1 | 404 | 0.0025 | 814 | c.340 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(807): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 404 | 0.0025 | 814 | c.340 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(807): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0050 | 1 | 404 | 0.0025 | 814 | c.340 others(831): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99838928 | T | TCCCGGAC others(808): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0315 | 1 | 336 | 0.0030 | 815 | c.361 others(834): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACAP3_chr1_1287391_1312930 | 1288923 | C | CCGTGTCT others(808): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 295 | 0.0034 | 815 | c.*46 others(826): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3467 | chr1 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(808): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 262 | 0.0038 | 815 | c.106 others(834): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687797 | C | CCGTGACC others(808): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 246 | 0.0041 | 815 | c.-21 others(826): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1952 | chr8 | TogoVar | ||||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(808): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 280 | 0.0036 | 815 | c.-14 others(830): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(808): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 280 | 0.0036 | 815 | c.-14 others(830): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(808): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 280 | 0.0036 | 815 | c.-14 others(830): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(808): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 280 | 0.0036 | 815 | c.-14 others(830): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARL13A_chrX_100964708_100995831 | 100972833 | G | GGGCGGGG others(808): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 280 | 0.0036 | 815 | c.-14 others(830): Show |
ARL13A | ENSG00000174225.15 | transcript | ENST00000450049.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3037056 | T | TTATATAT others(808): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0230 | 1 | 248 | 0.0040 | 815 | c.*36 others(826): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2946 | chrX | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(808): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189a0001c0001t0002g0241 | 2 | 292 | 0.0069 | 815 | c.207 others(836): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(808): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03139.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0019a0007c0010t0001 | a0001c0001t0019g0130a0007c0010t0001g0244 | 2 | 292 | 0.0069 | 815 | c.207 others(836): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(808): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0194 | 1 | 292 | 0.0034 | 815 | c.207 others(836): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(808): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0014 | a0001c0001t0006g0182a0001c0002t0014g0181 | 2 | 292 | 0.0069 | 815 | c.207 others(836): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C4orf50_chr4_5954375_6023431 | 6004599 | A | ATGATGGT others(808): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0153 | 1 | 346 | 0.0029 | 815 | c.963 others(832): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(808): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 | 1 | 398 | 0.0025 | 815 | c.666 others(830): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(808): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 398 | 0.0025 | 815 | c.666 others(830): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |