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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUSK_chr9_110663791_110811558 | 110681088 | T | TATATTAT others(213): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 326 | 0.0031 | 220 | c.80- others(235): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 71928191 | T | TATATACA others(213): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 64 | 0.0156 | 220 | c.409 others(237): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
NHS_chrX_17370200_17740994 | 17589650 | A | AGTGAGTA others(213): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0132 | 1 | 164 | 0.0061 | 220 | c.566 others(239): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHS_chrX_17370200_17740994 | 17589650 | A | AGTGAGTA others(213): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03453.hp1 HG03471.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0006t0008others(1): Show | a0001c0001t0001g0127 a0002c0002t0001g0072 a0002c0002t0001g0080 others(2): Show |
5 | 164 | 0.0305 | 220 | c.566 others(239): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55850352 | A | TGGCTGCG others(213): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0022 | a0009c0022t0006 | a0009c0022t0006g0319 | 1 | 424 | 0.0024 | 220 | c.-65 others(237): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP4_chr19_55831540_55886855 | 55850392 | T | TGGCTGCG others(213): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0324 | 1 | 424 | 0.0024 | 220 | c.-65 others(237): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55850467 | T | TTCCGTGG others(213): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0018 | a0002c0018t0009 | a0002c0018t0009g0382 | 1 | 424 | 0.0024 | 220 | c.-65 others(237): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851092 | T | TGGCTGCG others(213): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02622.hp1 HG02723.hp2 others(2): Show |
a0001a0002a0009 | a0001c0001a0001c0034a0002c0002others(1): Show | a0001c0001t0006a0001c0034t0002a0002c0002t0002others(1): Show | a0001c0001t0006g0320 a0001c0001t0006g0321 a0001c0034t0002g0296 others(2): Show |
5 | 424 | 0.0118 | 220 | c.-65 others(235): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851108 | T | TCCGAGGC others(213): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0411 | 1 | 424 | 0.0024 | 220 | c.-65 others(235): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851172 | T | TGGCTGCG others(213): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03688.hp2 |
a0001 | a0001c0005a0001c0037 | a0001c0005t0003a0001c0037t0005 | a0001c0005t0003g0403 a0001c0037t0005g0380 |
2 | 424 | 0.0047 | 220 | c.-65 others(235): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993534 | C | CCCCCTCC others(213): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0199 | 1 | 350 | 0.0029 | 220 | c.*56 others(231): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4906 | chr19 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132148890 | A | ACCTCGGT others(213): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0003 | a0003c0030 | a0003c0030t0001 | a0003c0030t0001g0287 | 1 | 294 | 0.0034 | 220 | c.901 others(233): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132148948 | C | CGCCGCCT others(213): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 294 | 0.0034 | 220 | c.901 others(233): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132148962 | T | TACCACAC others(213): Show |
intron_variant | MODIFIER | NA18975.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0150 |
2 | 294 | 0.0068 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132148962 | T | TACCACAC others(213): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 1 | 294 | 0.0034 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149138 | T | CACCACAC others(213): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 |
2 | 294 | 0.0068 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149138 | T | TACCACAC others(213): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 294 | 0.0034 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149221 | G | GCTCCTAC others(213): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 294 | 0.0034 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149520 | C | CGCCGCCT others(213): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0003 | a0003c0030 | a0003c0030t0001 | a0003c0030t0001g0287 | 1 | 294 | 0.0034 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149587 | C | CCTAATCC others(213): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 294 | 0.0034 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149621 | A | ATACCACA others(213): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 294 | 0.0034 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149621 | A | ATACCACA others(213): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 294 | 0.0034 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149622 | C | CACCACAC others(213): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 294 | 0.0034 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149705 | A | ACTCCTAC others(213): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0124 | 1 | 294 | 0.0034 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149710 | C | CACCACAC others(213): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0013 | 1 | 294 | 0.0034 | 220 | c.901 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149886 | T | TACCACAC others(213): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 294 | 0.0034 | 220 | c.901 others(237): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150132 | G | GCCGCCTC others(213): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0053 | 1 | 294 | 0.0034 | 220 | c.902 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150189 | C | CACCACAC others(213): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 294 | 0.0034 | 220 | c.902 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150233 | C | CACCACAC others(213): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0117 | 1 | 294 | 0.0034 | 220 | c.902 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150233 | C | CACCACAC others(213): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 294 | 0.0034 | 220 | c.902 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150453 | C | CACCACAC others(213): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 294 | 0.0034 | 220 | c.902 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150492 | G | GCTCACAC others(213): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 294 | 0.0034 | 220 | c.902 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150536 | G | GCTCCTAC others(213): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 294 | 0.0034 | 220 | c.902 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150541 | C | CACCACAC others(213): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 294 | 0.0034 | 220 | c.902 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150628 | A | ACACCACA others(213): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0203 | 1 | 294 | 0.0034 | 220 | c.902 others(235): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
OBI1_chr13_78609289_78664155 | 78659300 | A | AGAAAGAA others(213): Show |
upstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 296 | 0.0034 | 220 | c.-18 others(229): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 146 | chr13 | TogoVar | |||||||
ODF3_chr11_191761_205258 | 202763 | G | GCAGGGTT others(213): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0007g0001 |
2 | 388 | 0.0052 | 220 | c.*27 others(231): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 2506 | chr11 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135124531 | G | GGAAGGGG others(213): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 | 1 | 360 | 0.0028 | 220 | c.*43 others(231): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3352 | chr9 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64088656 | A | AGGGCAGG others(213): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01106.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 others(10): Show |
15 | 66 | 0.2273 | 220 | c.-18 others(239): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OR2T12_chr1_248285139_248308424 | 248306900 | C | CCCTGAGG others(213): Show |
upstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0089 | 1 | 406 | 0.0025 | 220 | c.-37 others(231): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3477 | chr1 | TogoVar | |||||||
OR52E6_chr11_5835928_5846897 | 5844253 | T | TTATATTA others(213): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 450 | 0.0022 | 220 | c.-23 others(231): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2357 | chr11 | TogoVar | |||||||
OR52E6_chr11_5835928_5846897 | 5844253 | T | TTATATTA others(213): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG02155.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 12 | 450 | 0.0267 | 220 | c.-23 others(231): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2357 | chr11 | TogoVar | |||||||
OR52E6_chr11_5835928_5846897 | 5844253 | T | TTATATTA others(213): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 450 | 0.0022 | 220 | c.-23 others(231): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2357 | chr11 | TogoVar | |||||||
OR52E6_chr11_5835928_5846897 | 5844258 | T | TTATATAT others(213): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 450 | 0.0022 | 220 | c.-23 others(231): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2362 | chr11 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(213): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp2 others(28): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(13): Show | a0001c0001t0002g0018 a0001c0001t0002g0064 a0001c0001t0002g0090 others(28): Show |
31 | 308 | 0.1007 | 220 | c.226 others(239): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(213): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0105 a0003c0003t0003g0106 |
2 | 308 | 0.0065 | 220 | c.226 others(239): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562909 | G | GGGGGGGC others(213): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0119 | 1 | 221 | 0.0045 | 220 | c.-95 others(229): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 765 | chrX | TogoVar | |||||||
PCDHGA1_chr5_141325514_141517975 | 141407491 | A | ATTTCTGT others(213): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0019 | a0003c0019t0001 | a0003c0019t0001g0246 | 1 | 268 | 0.0037 | 220 | c.242 others(241): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141407491 | A | ATTTCTGT others(213): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0126 | 1 | 272 | 0.0037 | 220 | c.242 others(241): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141407491 | A | ATTTCTGT others(213): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0045 | 1 | 270 | 0.0037 | 220 | c.242 others(241): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |