Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 5792 |
|---|---|
| ensemblid | ENSG00000142949.17 |
| hgncid | 9670 |
| symbol | PTPRF |
| name | protein tyrosine phosphatase receptor type F |
| refseq_nuc | NM_002840.5 |
| refseq_prot | NP_002831.2 |
| ensembl_nuc | ENST00000359947.9 |
| ensembl_prot | ENSP00000353030.4 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 43530883 |
| end | 43623666 |
| strand | + |
| ver | v1.2 |
| region | chr1:43530883-43623666 |
| region5000 | chr1:43525883-43628666 |
| regionname0 | PTPRF_chr1_43530883_43623666 |
| regionname5000 | PTPRF_chr1_43525883_43628666 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 1907 | 19 | 6 | 6 | 2 | 0 | 4 | 2 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/0 | 5724 | 9 | 0 | 5 | 0 | 0 | 3 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| c0002 | 0/0 | 5724 | 6 | 5 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| c0003 | 0/0 | 5724 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| c0004 | 0/0 | 5724 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| c0005 | 0/0 | 5724 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| c0006 | 0/0 | 5724 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/0 | 1997 | 11 | 0 | 5 | 1 | 0 | 4 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| t0002 | 0/0 | 1997 | 5 | 5 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| t0003 | 0/0 | 1991 | 2 | 1 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| t0004 | 0/0 | 1997 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0016 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 5724 | 9 | 0 | 5 | 0 | 0 | 3 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0002 | 0/0 | 5724 | 6 | 5 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0003 | 0/0 | 5724 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0004 | 0/0 | 5724 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0005 | 0/0 | 5724 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0006 | 0/0 | 5724 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 7720 | 9 | 0 | 5 | 0 | 0 | 3 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0002t0002 | 0/0 | 7720 | 4 | 4 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0002t0003 | 0/0 | 7714 | 2 | 1 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0003t0001 | 0/0 | 7720 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0004t0002 | 0/0 | 7720 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0005t0001 | 0/0 | 7720 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| a0001c0006t0004 | 0/0 | 7720 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | copy fasta | chr1 | 43525883 | 43628666 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0001t0001g0016 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0002t0002g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0002t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0002t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0002t0003g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0002t0003g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0003t0001g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0004t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0005t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| a0001c0006t0004g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG00639 | hp2 | a0001 | c0002 | t0003 | g0003 | AMR | PUR | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | PUR | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG02723 | hp1 | a0001 | c0004 | t0002 | g0018 | AFR | GWD | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG02723 | hp2 | a0001 | c0002 | t0002 | g0001 | AFR | GWD | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG02970 | hp1 | a0001 | c0002 | t0002 | g0015 | AFR | ESN | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG02970 | hp2 | a0001 | c0002 | t0002 | g0017 | AFR | ESN | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG03453 | hp1 | a0001 | c0002 | t0003 | g0002 | AFR | MSL | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG03453 | hp2 | a0001 | c0002 | t0002 | g0001 | AFR | MSL | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0013 | SAS | PJL | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| HG03669 | hp2 | a0001 | c0003 | t0001 | g0006 | SAS | PJL | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| NA18962 | hp1 | a0001 | c0005 | t0001 | g0010 | EAS | JPT | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| NA18962 | hp2 | a0001 | c0006 | t0004 | g0007 | EAS | JPT | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0016 | REF | REF | PTPRF_chr1_43525883_43628666 | PTPRF | chr1 | 43525883 | 43628666 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:43569681
|
C | T | 1 | a0001c0006 | 1 | NA18962.hp2 | synonymous_variant | LOW | c.471C>T | p.Ala157Ala | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/34 | 804/7720 | 471/5724 | 157/1907 | chr1 | 43569681 | ||
| chr1:43578904
|
G | A | 1 | a0001c0003 | 1 | HG03669.hp2 | synonymous_variant | LOW | c.663G>A | p.Ala221Ala | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 7/34 | 996/7720 | 663/5724 | 221/1907 | chr1 | 43578904 | ||
| chr1:43603717
|
G | A | 1 | a0001c0004 | 1 | HG02723.hp1 | synonymous_variant | LOW | c.2565G>A | p.Leu855Leu | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 16/34 | 2898/7720 | 2565/5724 | 855/1907 | chr1 | 43603717 | ||
| chr1:43609383
|
G | A | 1 | a0001c0005 | 1 | NA18962.hp1 | splice_region_variant&synonymous_variant | LOW | c.3858G>A | p.Arg1286Arg | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 22/34 | 4191/7720 | 3858/5724 | 1286/1907 | chr1 | 43609383 | ||
| chr1:43617836
|
T | C | 2 | a0001c0002a0001c0004 | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
synonymous_variant | LOW | c.4296T>C | p.Gly1432Gly | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 25/34 | 4629/7720 | 4296/5724 | 1432/1907 | chr1 | 43617836 | ||
| chr1:43617848
|
G | A | 2 | a0001c0002a0001c0004 | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
synonymous_variant | LOW | c.4308G>A | p.Arg1436Arg | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 25/34 | 4641/7720 | 4308/5724 | 1436/1907 | chr1 | 43617848 | ||
| chr1:43619068
|
C | T | 2 | a0001c0002a0001c0004 | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
synonymous_variant | LOW | c.4512C>T | p.Arg1504Arg | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 27/34 | 4845/7720 | 4512/5724 | 1504/1907 | chr1 | 43619068 | ||
| chr1:43621160
|
C | T | 2 | a0001c0002a0001c0004 | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
synonymous_variant | LOW | c.5583C>T | p.Tyr1861Tyr | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 33/34 | 5916/7720 | 5583/5724 | 1861/1907 | chr1 | 43621160 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:43530931
|
G | A | 1 | a0001c0006t0004 | 1 | NA18962.hp2 | 5_prime_UTR_variant | MODIFIER | c.-285G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/34 | 14145 | chr1 | 43530931 | |||||
| chr1:43530942
|
GGGCTCC | G | 1 | a0001c0002t0003 | 2 | HG00639.hp2 HG03453.hp1 |
5_prime_UTR_variant | MODIFIER | c.-249_-244delGGCTCC | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/34 | 14104 | INFO_REALIGN_3_PRIME | chr1 | 43530942 | ||||
| chr1:43622403
|
C | T | 3 | a0001c0002t0002a0001c0002t0003a0001c0004t0002 | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*400C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 34/34 | 400 | chr1 | 43622403 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:43532726
|
GT | G | 15 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(12): Show | 16 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.-126+1643delT | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr1 | 43532726 | |||||
| chr1:43533400
|
ATAC | A | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-126+2313_-126+231 others(7): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr1 | 43533400 | |||||
| chr1:43533449
|
T | C | 3 | a0001c0001t0001g0004a0001c0002t0003g0002a0001c0002t0003g0003 | 3 | HG00639.hp2 HG03453.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.-126+2359T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43533449 | ||||||
| chr1:43533656
|
G | T | 1 | a0001c0001t0001g0004 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.-126+2566G>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43533656 | ||||||
| chr1:43533888
|
C | T | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-126+2798C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43533888 | ||||||
| chr1:43534219
|
A | G | 1 | a0001c0001t0001g0014 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-126+3129A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43534219 | ||||||
| chr1:43534380
|
C | T | 1 | a0001c0002t0003g0003 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-126+3290C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43534380 | ||||||
| chr1:43534730
|
C | A | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-125-3468C>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43534730 | ||||||
| chr1:43535784
|
C | CTTT | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-125-2413_-125-241 others(7): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr1 | 43535784 | |||||
| chr1:43536484
|
G | C | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-125-1714G>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43536484 | ||||||
| chr1:43536612
|
C | T | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-125-1586C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43536612 | ||||||
| chr1:43537218
|
C | T | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-125-980C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43537218 | ||||||
| chr1:43537286
|
G | A | 10 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0009others(7): Show | 10 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(7): Show |
intron_variant | MODIFIER | c.-125-912G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43537286 | ||||||
| chr1:43537396
|
G | T | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-125-802G>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43537396 | ||||||
| chr1:43537463
|
C | T | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-125-735C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43537463 | ||||||
| chr1:43537648
|
T | C | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-125-550T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 1/33 | chr1 | 43537648 | ||||||
| chr1:43538706
|
G | A | 13 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(10): Show | 14 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.-46+429G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43538706 | ||||||
| chr1:43539609
|
G | A | 8 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(5): Show |
intron_variant | MODIFIER | c.-46+1332G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43539609 | ||||||
| chr1:43540257
|
A | G | 1 | a0001c0001t0001g0012 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.-46+1980A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43540257 | ||||||
| chr1:43540325
|
T | C | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-46+2048T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43540325 | ||||||
| chr1:43540517
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-46+2240G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43540517 | ||||||
| chr1:43540668
|
A | G | 11 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0009others(8): Show | 11 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-46+2391A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43540668 | ||||||
| chr1:43540971
|
C | T | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-46+2694C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43540971 | ||||||
| chr1:43541300
|
C | T | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-46+3023C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43541300 | ||||||
| chr1:43541695
|
GGACAGTT others(5): Show |
G | 14 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(11): Show | 15 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.-45-3335_-45-3324d others(14): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43541695 | ||||||
| chr1:43541707
|
C | G | 1 | a0001c0002t0002g0017 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-45-3324C>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43541707 | ||||||
| chr1:43541977
|
T | C | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 18 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-45-3054T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43541977 | ||||||
| chr1:43543362
|
C | T | 14 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(11): Show | 15 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.-45-1669C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43543362 | ||||||
| chr1:43543830
|
T | C | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-45-1201T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43543830 | ||||||
| chr1:43544107
|
G | A | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-45-924G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43544107 | ||||||
| chr1:43544338
|
G | A | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-45-693G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43544338 | ||||||
| chr1:43544754
|
C | G | 1 | a0001c0002t0002g0015 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-45-277C>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43544754 | ||||||
| chr1:43544785
|
C | T | 1 | a0001c0001t0001g0014 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-45-246C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43544785 | ||||||
| chr1:43544900
|
A | G | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-45-131A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43544900 | ||||||
| chr1:43545016
|
T | C | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-45-15T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 2/33 | chr1 | 43545016 | ||||||
| chr1:43545743
|
A | C | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.91+577A>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43545743 | ||||||
| chr1:43546066
|
G | A | 14 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(11): Show | 15 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.91+900G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43546066 | ||||||
| chr1:43546570
|
C | T | 1 | a0001c0001t0001g0011 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.91+1404C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43546570 | ||||||
| chr1:43547252
|
C | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(9): Show | 12 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.91+2086C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43547252 | ||||||
| chr1:43547645
|
G | A | 1 | a0001c0001t0001g0004 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.91+2479G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43547645 | ||||||
| chr1:43547684
|
G | A | 14 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(11): Show | 15 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.91+2518G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43547684 | ||||||
| chr1:43548150
|
C | G | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 18 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.91+2984C>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43548150 | ||||||
| chr1:43548206
|
A | G | 4 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0012others(1): Show | 4 | HG00639.hp1 HG01109.hp1 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+3040A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43548206 | ||||||
| chr1:43548609
|
T | C | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 18 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.91+3443T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43548609 | ||||||
| chr1:43548902
|
A | T | 16 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(13): Show | 17 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.91+3736A>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43548902 | ||||||
| chr1:43549064
|
C | T | 14 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(11): Show | 15 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.91+3898C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43549064 | ||||||
| chr1:43549154
|
A | G | 14 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(11): Show | 15 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.91+3988A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43549154 | ||||||
| chr1:43549278
|
T | C | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 18 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.91+4112T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43549278 | ||||||
| chr1:43550138
|
T | C | 16 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(13): Show | 17 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.92-3354T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43550138 | ||||||
| chr1:43551030
|
G | T | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 18 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.92-2462G>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43551030 | ||||||
| chr1:43552115
|
GA | G | 14 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(11): Show | 14 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.92-1367delA | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr1 | 43552115 | |||||
| chr1:43552492
|
A | G | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.92-1000A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43552492 | ||||||
| chr1:43552500
|
C | T | 1 | a0001c0002t0002g0017 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.92-992C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43552500 | ||||||
| chr1:43552663
|
G | A | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.92-829G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43552663 | ||||||
| chr1:43552870
|
G | C | 1 | a0001c0002t0002g0015 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.92-622G>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43552870 | ||||||
| chr1:43552933
|
G | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(9): Show | 12 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.92-559G>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 3/33 | chr1 | 43552933 | ||||||
| chr1:43554060
|
C | T | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 18 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.379+119C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43554060 | ||||||
| chr1:43554723
|
T | C | 13 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(10): Show | 14 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.379+782T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43554723 | ||||||
| chr1:43554855
|
T | C | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.379+914T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43554855 | ||||||
| chr1:43554857
|
C | T | 15 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(12): Show | 16 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.379+916C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43554857 | ||||||
| chr1:43555316
|
A | ATG | 15 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(12): Show | 16 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.379+1386_379+1387d others(4): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | 43555316 | |||||
| chr1:43555468
|
C | T | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.379+1527C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43555468 | ||||||
| chr1:43555785
|
C | G | 4 | a0001c0002t0002g0017a0001c0002t0003g0002a0001c0002t0003g0003others(1): Show | 4 | HG00639.hp2 HG02970.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.379+1844C>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43555785 | ||||||
| chr1:43556042
|
G | T | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.379+2101G>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43556042 | ||||||
| chr1:43556356
|
A | G | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 18 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.379+2415A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43556356 | ||||||
| chr1:43556450
|
C | T | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.379+2509C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43556450 | ||||||
| chr1:43556632
|
A | C | 15 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(12): Show | 16 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.379+2691A>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43556632 | ||||||
| chr1:43556863
|
C | T | 13 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(10): Show | 14 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.379+2922C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43556863 | ||||||
| chr1:43556906
|
G | T | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.379+2965G>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43556906 | ||||||
| chr1:43556909
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.379+2968G>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43556909 | ||||||
| chr1:43557158
|
G | C | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.379+3217G>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43557158 | ||||||
| chr1:43557630
|
CAAA | C | 11 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(8): Show | 11 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(8): Show |
intron_variant | MODIFIER | c.379+3705_379+3707d others(5): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | 43557630 | |||||
| chr1:43557843
|
A | G | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.379+3902A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43557843 | ||||||
| chr1:43557944
|
G | A | 13 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(10): Show | 13 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.379+4003G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43557944 | ||||||
| chr1:43558398
|
C | G | 1 | a0001c0002t0002g0017 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.379+4457C>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43558398 | ||||||
| chr1:43558813
|
A | G | 4 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(1): Show | 5 | HG02723.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.379+4872A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43558813 | ||||||
| chr1:43559557
|
C | T | 1 | a0001c0002t0002g0017 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.379+5616C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43559557 | ||||||
| chr1:43559589
|
C | CAGT | 4 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(1): Show | 5 | HG02723.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.379+5648_379+5649i others(5): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43559589 | ||||||
| chr1:43559864
|
G | A | 1 | a0001c0002t0002g0017 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.379+5923G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43559864 | ||||||
| chr1:43560105
|
A | AGT | 4 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0003g0002others(1): Show | 5 | HG00639.hp2 HG02723.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.379+6183_379+6184d others(4): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | 43560105 | |||||
| chr1:43560174
|
C | CTG | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp2 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.379+6236_379+6237d others(4): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | 43560174 | |||||
| chr1:43560382
|
T | G | 4 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(1): Show | 5 | HG02723.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.379+6441T>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43560382 | ||||||
| chr1:43560418
|
C | T | 13 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(10): Show | 13 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.379+6477C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43560418 | ||||||
| chr1:43560509
|
A | C | 4 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(1): Show | 5 | HG02723.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.379+6568A>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43560509 | ||||||
| chr1:43560857
|
A | G | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.379+6916A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43560857 | ||||||
| chr1:43560985
|
G | C | 2 | a0001c0002t0002g0017a0001c0006t0004g0007 | 2 | HG02970.hp2 NA18962.hp2 |
intron_variant | MODIFIER | c.379+7044G>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43560985 | ||||||
| chr1:43561361
|
G | A | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.379+7420G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43561361 | ||||||
| chr1:43562670
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.380-6920C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43562670 | ||||||
| chr1:43562967
|
C | T | 1 | a0001c0002t0002g0015 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.380-6623C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43562967 | ||||||
| chr1:43563291
|
G | A | 11 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(8): Show | 11 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(8): Show |
intron_variant | MODIFIER | c.380-6299G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43563291 | ||||||
| chr1:43563365
|
G | C | 1 | a0001c0002t0003g0003 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.380-6225G>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43563365 | ||||||
| chr1:43563682
|
C | G | 2 | a0001c0002t0002g0017a0001c0006t0004g0007 | 2 | HG02970.hp2 NA18962.hp2 |
intron_variant | MODIFIER | c.380-5908C>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43563682 | ||||||
| chr1:43564930
|
A | G | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.380-4660A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43564930 | ||||||
| chr1:43565822
|
A | G | 4 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(1): Show | 5 | HG02723.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.380-3768A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43565822 | ||||||
| chr1:43565986
|
C | T | 10 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(7): Show | 10 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(7): Show |
intron_variant | MODIFIER | c.380-3604C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43565986 | ||||||
| chr1:43566122
|
G | C | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.380-3468G>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43566122 | ||||||
| chr1:43567012
|
C | T | 1 | a0001c0003t0001g0006 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.380-2578C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43567012 | ||||||
| chr1:43567900
|
G | A | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.380-1690G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43567900 | ||||||
| chr1:43568066
|
C | T | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.380-1524C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43568066 | ||||||
| chr1:43568097
|
C | A | 4 | a0001c0002t0002g0017a0001c0002t0003g0002a0001c0002t0003g0003others(1): Show | 4 | HG00639.hp2 HG02970.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.380-1493C>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43568097 | ||||||
| chr1:43568153
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.380-1437G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43568153 | ||||||
| chr1:43568167
|
C | T | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.380-1423C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43568167 | ||||||
| chr1:43568464
|
C | T | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.380-1126C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43568464 | ||||||
| chr1:43568529
|
T | A | 1 | a0001c0005t0001g0010 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.380-1061T>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43568529 | ||||||
| chr1:43568706
|
C | T | 1 | a0001c0002t0002g0017 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.380-884C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43568706 | ||||||
| chr1:43569219
|
GC | G | 6 | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0002t0002g0017others(3): Show | 6 | HG00639.hp2 HG02970.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.380-360delC | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | 43569219 | |||||
| chr1:43569422
|
A | G | 11 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(8): Show | 11 | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(8): Show |
intron_variant | MODIFIER | c.380-168A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 5/33 | chr1 | 43569422 | ||||||
| chr1:43569801
|
G | A | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.568+23G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43569801 | ||||||
| chr1:43570414
|
G | A | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.568+636G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43570414 | ||||||
| chr1:43570466
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.568+688C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43570466 | ||||||
| chr1:43570988
|
C | T | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.568+1210C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43570988 | ||||||
| chr1:43572014
|
G | A | 13 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(10): Show | 13 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.568+2236G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43572014 | ||||||
| chr1:43572412
|
C | T | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.568+2634C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43572412 | ||||||
| chr1:43572532
|
C | T | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.568+2754C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43572532 | ||||||
| chr1:43572968
|
C | G | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.568+3190C>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43572968 | ||||||
| chr1:43573159
|
A | G | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.568+3381A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43573159 | ||||||
| chr1:43573166
|
C | T | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.568+3388C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43573166 | ||||||
| chr1:43573361
|
C | T | 1 | a0001c0002t0002g0015 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.568+3583C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43573361 | ||||||
| chr1:43573378
|
C | T | 1 | a0001c0002t0002g0001 | 2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.568+3600C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43573378 | ||||||
| chr1:43573633
|
A | G | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.568+3855A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43573633 | ||||||
| chr1:43573877
|
T | C | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.568+4099T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43573877 | ||||||
| chr1:43573977
|
CT | C | 4 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0014others(1): Show | 4 | HG01109.hp2 HG01175.hp1 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.568+4235delT | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | INFO_REALIGN_3_PRIME | chr1 | 43573977 | |||||
| chr1:43573977
|
CTTTTTTT others(3): Show |
C | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.568+4226_568+4235d others(12): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | INFO_REALIGN_3_PRIME | chr1 | 43573977 | |||||
| chr1:43574039
|
T | C | 3 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0006t0004g0007 | 4 | HG02723.hp2 HG02970.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.568+4261T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43574039 | ||||||
| chr1:43574242
|
C | T | 3 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0006t0004g0007 | 4 | HG02723.hp2 HG02970.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.568+4464C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43574242 | ||||||
| chr1:43574596
|
T | A | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.569-4214T>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43574596 | ||||||
| chr1:43575173
|
C | T | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.569-3637C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43575173 | ||||||
| chr1:43575295
|
T | G | 7 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(4): Show | 8 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.569-3515T>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43575295 | ||||||
| chr1:43576868
|
C | G | 5 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0003g0002others(2): Show | 6 | HG00639.hp2 HG02723.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.569-1942C>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43576868 | ||||||
| chr1:43577095
|
A | G | 1 | a0001c0005t0001g0010 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.569-1715A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43577095 | ||||||
| chr1:43577240
|
G | T | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.569-1570G>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43577240 | ||||||
| chr1:43577434
|
T | C | 4 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0003g0002others(1): Show | 5 | HG00639.hp2 HG02723.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.569-1376T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43577434 | ||||||
| chr1:43577605
|
A | G | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.569-1205A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43577605 | ||||||
| chr1:43577721
|
G | A | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.569-1089G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 6/33 | chr1 | 43577721 | ||||||
| chr1:43580063
|
C | CA | 4 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0003g0002others(1): Show | 5 | HG00639.hp2 HG02723.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.679+1158dupA | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | 43580063 | |||||
| chr1:43582576
|
C | CG | 4 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0003g0002others(1): Show | 5 | HG00639.hp2 HG02723.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.679+3659dupG | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | 43582576 | |||||
| chr1:43582577
|
G | C | 1 | a0001c0005t0001g0010 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.679+3657G>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 7/33 | chr1 | 43582577 | ||||||
| chr1:43582612
|
T | C | 4 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0003g0002others(1): Show | 5 | HG00639.hp2 HG02723.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.679+3692T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 7/33 | chr1 | 43582612 | ||||||
| chr1:43585185
|
T | C | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.680-3546T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 7/33 | chr1 | 43585185 | ||||||
| chr1:43586175
|
A | G | 1 | a0001c0001t0001g0012 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.680-2556A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 7/33 | chr1 | 43586175 | ||||||
| chr1:43587357
|
C | G | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.680-1374C>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 7/33 | chr1 | 43587357 | ||||||
| chr1:43589217
|
C | T | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.949+217C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 8/33 | chr1 | 43589217 | ||||||
| chr1:43589323
|
G | A | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.949+323G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 8/33 | chr1 | 43589323 | ||||||
| chr1:43589695
|
G | GA | 3 | a0001c0001t0001g0014a0001c0002t0002g0001a0001c0002t0002g0015 | 4 | HG01175.hp1 HG02723.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.949+716dupA | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr1 | 43589695 | |||||
| chr1:43593379
|
G | A | 1 | a0001c0001t0001g0013 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1813+778G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 11/33 | chr1 | 43593379 | ||||||
| chr1:43593433
|
CTG | C | 2 | a0001c0002t0002g0015a0001c0002t0002g0017 | 2 | HG02970.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.1813+835_1813+836d others(4): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 11/33 | INFO_REALIGN_3_PRIME | chr1 | 43593433 | |||||
| chr1:43593712
|
C | T | 1 | a0001c0006t0004g0007 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1813+1111C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 11/33 | chr1 | 43593712 | ||||||
| chr1:43594066
|
A | G | 1 | a0001c0003t0001g0006 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1813+1465A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 11/33 | chr1 | 43594066 | ||||||
| chr1:43594283
|
C | CCCCAAGG others(147): Show |
1 | a0001c0002t0002g0001 | 2 | HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1813+1690_1813+169 others(158): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 11/33 | INFO_REALIGN_3_PRIME | chr1 | 43594283 | |||||
| chr1:43594283
|
C | CCCCAAGG others(146): Show |
16 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(13): Show | 16 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.1813+1690_1813+169 others(157): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 11/33 | INFO_REALIGN_3_PRIME | chr1 | 43594283 | |||||
| chr1:43594607
|
G | A | 1 | a0001c0001t0001g0013 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1813+2006G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 11/33 | chr1 | 43594607 | ||||||
| chr1:43595331
|
C | CA | 3 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0014 | 3 | HG01109.hp1 HG01109.hp2 HG01175.hp1 |
intron_variant | MODIFIER | c.1814-2416dupA | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 11/33 | INFO_REALIGN_3_PRIME | chr1 | 43595331 | |||||
| chr1:43596124
|
C | T | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1814-1624C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 11/33 | chr1 | 43596124 | ||||||
| chr1:43597579
|
T | C | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 18 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.1814-169T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 11/33 | chr1 | 43597579 | ||||||
| chr1:43598677
|
T | C | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.2120-43T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 12/33 | chr1 | 43598677 | ||||||
| chr1:43599033
|
C | G | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2313+120C>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 13/33 | chr1 | 43599033 | ||||||
| chr1:43604361
|
A | G | 2 | a0001c0002t0002g0001a0001c0002t0002g0015 | 3 | HG02723.hp2 HG02970.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3037+172A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 16/33 | chr1 | 43604361 | ||||||
| chr1:43606125
|
G | T | 1 | a0001c0001t0001g0011 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.3484-115G>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 19/33 | chr1 | 43606125 | ||||||
| chr1:43606182
|
T | C | 9 | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0013others(6): Show | 10 | HG00639.hp2 HG01175.hp2 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.3484-58T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 19/33 | chr1 | 43606182 | ||||||
| chr1:43606749
|
A | G | 1 | a0001c0002t0002g0015 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3703-65A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 20/33 | chr1 | 43606749 | ||||||
| chr1:43608770
|
T | C | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 18 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.3858-613T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 21/33 | chr1 | 43608770 | ||||||
| chr1:43609312
|
C | T | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3858-71C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 21/33 | chr1 | 43609312 | ||||||
| chr1:43609556
|
T | C | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 18 | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.3973+58T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 22/33 | chr1 | 43609556 | ||||||
| chr1:43609834
|
G | C | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.3973+336G>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 22/33 | chr1 | 43609834 | ||||||
| chr1:43609900
|
T | G | 1 | a0001c0001t0001g0012 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.3973+402T>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 22/33 | chr1 | 43609900 | ||||||
| chr1:43612261
|
C | A | 1 | a0001c0002t0002g0017 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.3974-1357C>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 22/33 | chr1 | 43612261 | ||||||
| chr1:43613118
|
C | A | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.3974-500C>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 22/33 | chr1 | 43613118 | ||||||
| chr1:43613290
|
G | C | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3974-328G>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 22/33 | chr1 | 43613290 | ||||||
| chr1:43614309
|
G | A | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.4071+594G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43614309 | ||||||
| chr1:43615551
|
C | CTT | 2 | a0001c0002t0002g0001a0001c0004t0002g0018 | 3 | HG02723.hp1 HG02723.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.4071+1865_4072-186 others(6): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr1 | 43615551 | |||||
| chr1:43615551
|
CTTTTTTT others(5): Show |
C | 2 | a0001c0001t0001g0008a0001c0002t0002g0015 | 2 | HG00639.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.4071+1855_4072-186 others(16): Show |
PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr1 | 43615551 | |||||
| chr1:43615652
|
T | C | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.4072-1793T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43615652 | ||||||
| chr1:43615659
|
T | C | 1 | a0001c0004t0002g0018 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.4072-1786T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43615659 | ||||||
| chr1:43615718
|
T | C | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4072-1727T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43615718 | ||||||
| chr1:43616041
|
T | G | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4072-1404T>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43616041 | ||||||
| chr1:43616091
|
T | G | 7 | a0001c0001t0001g0013a0001c0002t0002g0001a0001c0002t0002g0015others(4): Show | 8 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.4072-1354T>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43616091 | ||||||
| chr1:43616202
|
A | C | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4072-1243A>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43616202 | ||||||
| chr1:43616545
|
G | A | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4072-900G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43616545 | ||||||
| chr1:43616651
|
C | T | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4072-794C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43616651 | ||||||
| chr1:43617344
|
G | A | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4072-101G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43617344 | ||||||
| chr1:43617439
|
C | T | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.4072-6C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 23/33 | chr1 | 43617439 | ||||||
| chr1:43617587
|
C | T | 2 | a0001c0002t0003g0002a0001c0002t0003g0003 | 2 | HG00639.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.4195+19C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 24/33 | chr1 | 43617587 | ||||||
| chr1:43618203
|
A | G | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4371+292A>G | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 25/33 | chr1 | 43618203 | ||||||
| chr1:43620007
|
G | T | 1 | a0001c0002t0002g0017 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.5112-88G>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 29/33 | chr1 | 43620007 | ||||||
| chr1:43620409
|
T | C | 6 | a0001c0002t0002g0001a0001c0002t0002g0015a0001c0002t0002g0017others(3): Show | 7 | HG00639.hp2 HG02723.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.5239-45T>C | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 30/33 | chr1 | 43620409 | ||||||
| chr1:43620625
|
G | A | 1 | a0001c0002t0002g0015 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.5364+46G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 31/33 | chr1 | 43620625 | ||||||
| chr1:43621441
|
G | A | 1 | a0001c0002t0002g0015 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.5655+209G>A | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 33/33 | chr1 | 43621441 | ||||||
| chr1:43621825
|
C | T | 8 | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0002t0002g0001others(5): Show | 9 | HG00639.hp2 HG01109.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.5656-110C>T | PTPRF | ENSG00000142949.17 | transcript | ENST00000359947.9 | protein_coding | 33/33 | chr1 | 43621825 |