view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 315147 | G | GACCTGTA others(7737): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0084 | 1 | 84 | 0.0119 | 7744 | c.351 others(7761): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7748): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 153 | 0.0065 | 7755 | c.179 others(7774): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HRNR_chr1_152207076_152229193 | 152213340 | C | CCTGTTGG others(7749): Show |
frameshift_variant | HIGH | NA18947.hp1 | a0001 | a0001c0111 | a0001c0111t0001 | a0001c0111t0001g0119 | 1 | 214 | 0.0047 | 7756 | c.828 others(7765): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8364/9629 | 8288/8553 | 2763/2850 | chr1 | TogoVar | |||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(7763): Show |
conservative_inframe_insertion | MODERATE | NA18946.hp1 NA18950.hp2 NA18983.hp1 others(4): Show |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0003 a0001c0009t0002g0209 |
7 | 8 | 0.8750 | 7770 | c.481 others(7779): Show |
p.Ser others(7785): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | |||
RPH3AL_chr17_207389_357807 | 315147 | G | GACCTGTA others(7764): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0005 | a0003c0005t0023 | a0003c0005t0023g0125 | 1 | 84 | 0.0119 | 7771 | c.351 others(7788): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 315147 | G | GACCTGTA others(7764): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0127 | 1 | 84 | 0.0119 | 7771 | c.351 others(7788): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7766): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0212 | 1 | 25 | 0.0400 | 7773 | c.110 others(7792): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7766): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0011 | a0011c0017 | a0011c0017t0013 | a0011c0017t0013g0220 | 1 | 25 | 0.0400 | 7773 | c.110 others(7792): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7766): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0011 | a0011c0017 | a0011c0017t0013 | a0011c0017t0013g0221 | 1 | 25 | 0.0400 | 7773 | c.110 others(7792): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7766): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0024 | a0024c0024 | a0024c0024t0002 | a0024c0024t0002g0019 | 1 | 25 | 0.0400 | 7773 | c.110 others(7792): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586451 | G | GGGGGGGG others(7768): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0220 | 1 | 264 | 0.0038 | 7775 | c.157 others(7792): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7769): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03491.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0068 a0002c0003t0001g0072 |
2 | 26 | 0.0769 | 7776 | c.110 others(7795): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7769): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0106 | 1 | 25 | 0.0400 | 7776 | c.110 others(7795): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0034 | a0002c0034t0001 | a0002c0034t0001g0014 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0094 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01175.hp1 others(5): Show |
a0001a0021 | a0001c0002a0001c0044a0021c0045 | a0001c0002t0001a0001c0044t0010a0021c0045t0010 | a0001c0002t0001g0105 a0001c0002t0001g0121 a0001c0002t0001g0157 others(5): Show |
8 | 32 | 0.2500 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18978.hp1 NA19060.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0085 a0001c0002t0001g0120 a0001c0002t0006g0119 |
3 | 27 | 0.1111 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0060 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0067 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0124 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG03017.hp2 |
a0006a0020 | a0006c0011a0020c0041 | a0006c0011t0001a0006c0011t0004a0020c0041t0001 | a0006c0011t0001g0123 a0006c0011t0004g0107 a0020c0041t0001g0097 |
3 | 27 | 0.1111 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 a0001c0002t0001g0205 |
2 | 26 | 0.0769 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02074.hp2 HG02080.hp2 others(10): Show |
a0002a0025 | a0002c0003a0025c0029 | a0002c0003t0001a0002c0003t0004a0002c0003t0006others(2): Show | a0002c0003t0001g0062 a0002c0003t0001g0064 a0002c0003t0001g0065 others(10): Show |
13 | 37 | 0.3514 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0059 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0100 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0046 | a0002c0046t0001 | a0002c0046t0001g0069 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG04184.hp2 HG04228.hp2 |
a0001a0023 | a0001c0002a0023c0031 | a0001c0002t0001a0023c0031t0001 | a0001c0002t0001g0128 a0023c0031t0001g0130 |
2 | 26 | 0.0769 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 25 | 0.0400 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7770): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0108 a0003c0005t0001g0109 |
2 | 26 | 0.0769 | 7777 | c.110 others(7796): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7771): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 25 | 0.0400 | 7778 | c.110 others(7797): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7771): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0074 | 1 | 25 | 0.0400 | 7778 | c.110 others(7797): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7771): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0086 | 1 | 25 | 0.0400 | 7778 | c.110 others(7797): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7771): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01175.hp2 HG01978.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0110 a0001c0002t0001g0117 a0002c0003t0001g0066 others(1): Show |
4 | 28 | 0.1429 | 7778 | c.110 others(7797): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7771): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 25 | 0.0400 | 7778 | c.110 others(7797): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7771): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 25 | 0.0400 | 7778 | c.110 others(7797): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7771): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0211 | 1 | 25 | 0.0400 | 7778 | c.110 others(7797): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7771): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0215 | 1 | 25 | 0.0400 | 7778 | c.110 others(7797): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7772): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 |
a0007 | a0007c0014 | a0007c0014t0009 | a0007c0014t0009g0228 a0007c0014t0009g0229 |
2 | 26 | 0.0769 | 7779 | c.110 others(7798): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7772): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0010 | a0010c0010 | a0010c0010t0007 | a0010c0010t0007g0003 a0010c0010t0007g0004 |
2 | 26 | 0.0769 | 7779 | c.110 others(7798): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7772): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 25 | 0.0400 | 7779 | c.110 others(7798): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7772): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009a0001c0026others(1): Show | a0001c0001t0001a0001c0009t0001a0001c0026t0001others(1): Show | a0001c0001t0001g0147 a0001c0001t0001g0201 a0001c0009t0001g0137 others(2): Show |
5 | 29 | 0.1724 | 7779 | c.110 others(7798): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7772): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0009 | a0001c0009t0018 | a0001c0009t0018g0136 | 1 | 25 | 0.0400 | 7779 | c.110 others(7798): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948252 | G | GTGGTGGT others(7772): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0007 | a0007c0076 | a0007c0076t0004 | a0007c0076t0004g0062 | 1 | 124 | 0.0081 | 7779 | c.47- others(7796): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CGGGGTCA others(7773): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0024 | a0001c0024t0004 | a0001c0024t0004g0058 | 1 | 278 | 0.0036 | 7780 | c.955 others(7797): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123748 | G | GGCCTCCC others(7773): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0227 | 1 | 25 | 0.0400 | 7780 | c.110 others(7799): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |