Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 100288142 |
| ensemblid | ENSG00000162825.18 |
| hgncid | 32000 |
| symbol | NBPF20 |
| name | NBPF member 20 |
| refseq_nuc | NM_001397211.1 |
| refseq_prot | NP_001384140.1 |
| ensembl_nuc | ENST00000698833.1 |
| ensembl_prot | ENSP00000513969.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 145290005 |
| end | 145425603 |
| strand | - |
| ver | v1.2 |
| region | chr1:145290005-145425603 |
| region5000 | chr1:145285005-145430603 |
| regionname0 | NBPF20_chr1_145290005_145425603 |
| regionname5000 | NBPF20_chr1_145285005_145430603 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 5645 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | MVVSA others(5640): Show |
chr1 | 145285005 | 145430603 |
| a0002 | 0/0 | 1179 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | MVVSA others(1174): Show |
chr1 | 145285005 | 145430603 |
| a0003 | 0/0 | 5551 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | MVVSA others(5546): Show |
chr1 | 145285005 | 145430603 |
| a0004 | 0/0 | 1423 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBPF20_chr1_145285005_145430603 | NBPF20 | MVVSA others(1418): Show |
chr1 | 145285005 | 145430603 |
| a0005 | 0/0 | 5645 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBPF20_chr1_145285005_145430603 | NBPF20 | MVVSA others(5640): Show |
chr1 | 145285005 | 145430603 |
| a0006 | 0/1 | 4838 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | MVVSA others(4833): Show |
chr1 | 145285005 | 145430603 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 16935 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | ATGGT others(16930): Show |
chr1 | 145285005 | 145430603 | ||
| a0002c0005 | 0/0 | 18576 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | ATGGT others(18571): Show |
chr1 | 145285005 | 145430603 | ||
| a0003c0002 | 0/0 | 16653 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | ATGGT others(16648): Show |
chr1 | 145285005 | 145430603 | ||
| a0004c0006 | 0/0 | 18294 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | ATGGT others(18289): Show |
chr1 | 145285005 | 145430603 | ||
| a0005c0004 | 0/0 | 16935 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | ATGGT others(16930): Show |
chr1 | 145285005 | 145430603 | ||
| a0006c0003 | 0/1 | 14514 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | ATGGT others(14509): Show |
chr1 | 145285005 | 145430603 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002 | 1/0 | 19578 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | GACGC others(19573): Show |
chr1 | 145285005 | 145430603 |
| a0002c0005t0002 | 0/0 | 21219 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | GACGC others(21214): Show |
chr1 | 145285005 | 145430603 |
| a0003c0002t0001 | 0/0 | 19296 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | GACGC others(19291): Show |
chr1 | 145285005 | 145430603 |
| a0004c0006t0003 | 0/0 | 20937 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | GACGC others(20932): Show |
chr1 | 145285005 | 145430603 |
| a0005c0004t0001 | 0/0 | 19578 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | GACGC others(19573): Show |
chr1 | 145285005 | 145430603 |
| a0006c0003t0001 | 0/1 | 17157 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | GACGC others(17152): Show |
chr1 | 145285005 | 145430603 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002g0005 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| a0002c0005t0002g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| a0003c0002t0001g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| a0004c0006t0003g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| a0005c0004t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| a0006c0003t0001g0001 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG01358 | hp1 | a0002 | c0005 | t0002 | g0006 | AMR | CLM | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| HG01358 | hp2 | a0003 | c0002 | t0001 | g0003 | AMR | CLM | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| NA19085 | hp1 | a0004 | c0006 | t0003 | g0002 | EAS | JPT | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| NA19085 | hp2 | a0005 | c0004 | t0001 | g0004 | EAS | JPT | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| homoSapiens | chm13v2 | a0006 | c0003 | t0001 | g0001 | REF | REF | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0002 | g0005 | REF | REF | NBPF20_chr1_145285005_145430603 | NBPF20 | chr1 | 145285005 | 145430603 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:145297154 | T | G | 2 | a0002 a0004 |
2 | HG01358.hp1 NA19085.hp1 |
missense_variant | MODERATE | c.15947A>C | p.Asn5316Thr | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 136/143 | 17066/19578 | 15947/16938 | 5316/5645 | chr1 | 145297154 | |||
| chr1:145301211 | T | A | 2 | a0002 a0004 |
2 | HG01358.hp1 NA19085.hp1 |
missense_variant | MODERATE | c.15292A>T | p.Ser5098Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 131/143 | 16411/19578 | 15292/16938 | 5098/5645 | chr1 | 145301211 | |||
| chr1:145305080 | G | A | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14713C>T | p.Pro4905Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/143 | 15832/19578 | 14713/16938 | 4905/5645 | chr1 | 145305080 | |||
| chr1:145305086 | T | C | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14707A>G | p.Asn4903Asp | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/143 | 15826/19578 | 14707/16938 | 4903/5645 | chr1 | 145305086 | |||
| chr1:145305100 | C | A | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14693G>T | p.Gly4898Val | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/143 | 15812/19578 | 14693/16938 | 4898/5645 | chr1 | 145305100 | |||
| chr1:145305106 | TTTCTTCC others(50): Show |
T | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
disruptive_inframe_deletion | MODERATE | c.14630_14686delGGAA others(53): Show |
p.Gly4877_Lys4896del others(6): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/143 | 15805/19578 | 14630/16938 | 4877/5645 | chr1 | 145305106 | |||
| chr1:145305164 | C | G | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14629G>C | p.Gly4877Arg | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/143 | 15748/19578 | 14629/16938 | 4877/5645 | chr1 | 145305164 | |||
| chr1:145305165 | C | G | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14628G>C | p.Lys4876Asn | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/143 | 15747/19578 | 14628/16938 | 4876/5645 | chr1 | 145305165 | |||
| chr1:145305167 | T | A | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
stop_gained | HIGH | c.14626A>T | p.Lys4876* | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/143 | 15745/19578 | 14626/16938 | 4876/5645 | chr1 | 145305167 | |||
| chr1:145305893 | CTCCCACG others(1577): Show |
C | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
exon_loss_variant | HIGH | c.14389_14613del | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 124/143 | 15732/19578 | chr1 | 145305893 | ||||||
| chr1:145307483 | C | T | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14383G>A | p.Val4795Met | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15502/19578 | 14383/16938 | 4795/5645 | chr1 | 145307483 | |||
| chr1:145307489 | G | C | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14377C>G | p.Leu4793Val | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15496/19578 | 14377/16938 | 4793/5645 | chr1 | 145307489 | |||
| chr1:145307501 | G | C | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14365C>G | p.Leu4789Val | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15484/19578 | 14365/16938 | 4789/5645 | chr1 | 145307501 | |||
| chr1:145307503 | T | C | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14363A>G | p.Tyr4788Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15482/19578 | 14363/16938 | 4788/5645 | chr1 | 145307503 | |||
| chr1:145307504 | A | G | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14362T>C | p.Tyr4788His | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15481/19578 | 14362/16938 | 4788/5645 | chr1 | 145307504 | |||
| chr1:145307510 | C | G | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14356G>C | p.Glu4786Gln | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15475/19578 | 14356/16938 | 4786/5645 | chr1 | 145307510 | |||
| chr1:145307518 | G | A | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14348C>T | p.Ser4783Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15467/19578 | 14348/16938 | 4783/5645 | chr1 | 145307518 | |||
| chr1:145307519 | A | C | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14347T>G | p.Ser4783Ala | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15466/19578 | 14347/16938 | 4783/5645 | chr1 | 145307519 | |||
| chr1:145307525 | C | A | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14341G>T | p.Val4781Phe | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15460/19578 | 14341/16938 | 4781/5645 | chr1 | 145307525 | |||
| chr1:145307532 | G | T | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14334C>A | p.Ser4778Arg | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15453/19578 | 14334/16938 | 4778/5645 | chr1 | 145307532 | |||
| chr1:145307546 | C | A | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14320G>T | p.Gly4774Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15439/19578 | 14320/16938 | 4774/5645 | chr1 | 145307546 | |||
| chr1:145307548 | A | G | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14318T>C | p.Leu4773Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15437/19578 | 14318/16938 | 4773/5645 | chr1 | 145307548 | |||
| chr1:145307555 | G | T | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14311C>A | p.Pro4771Thr | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15430/19578 | 14311/16938 | 4771/5645 | chr1 | 145307555 | |||
| chr1:145307566 | T | C | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14300A>G | p.Tyr4767Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15419/19578 | 14300/16938 | 4767/5645 | chr1 | 145307566 | |||
| chr1:145307588 | A | T | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.14278T>A | p.Cys4760Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15397/19578 | 14278/16938 | 4760/5645 | chr1 | 145307588 | |||
| chr1:145307620 | T | C | 2 | a0003 a0004 |
2 | HG01358.hp2 NA19085.hp1 |
missense_variant | MODERATE | c.14246A>G | p.Glu4749Gly | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15365/19578 | 14246/16938 | 4749/5645 | chr1 | 145307620 | |||
| chr1:145317089 | A | T | 2 | a0003 a0005 |
2 | HG01358.hp2 NA19085.hp2 |
missense_variant | MODERATE | c.12814T>A | p.Cys4272Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 111/143 | 13933/19578 | 12814/16938 | 4272/5645 | chr1 | 145317089 | |||
| chr1:145321851 | A | T | 2 | a0003 a0005 |
2 | HG01358.hp2 NA19085.hp2 |
missense_variant | MODERATE | c.12082T>A | p.Cys4028Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 105/143 | 13201/19578 | 12082/16938 | 4028/5645 | chr1 | 145321851 | |||
| chr1:145326601 | T | A | 2 | a0002 a0004 |
2 | HG01358.hp1 NA19085.hp1 |
missense_variant | MODERATE | c.11350A>T | p.Ser3784Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 99/143 | 12469/19578 | 11350/16938 | 3784/5645 | chr1 | 145326601 | |||
| chr1:145346409 | C | T | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.8273G>A | p.Gly2758Glu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 74/143 | 9392/19578 | 8273/16938 | 2758/5645 | chr1 | 145346409 | |||
| chr1:145359913 | T | A | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.6226A>T | p.Ser2076Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 57/143 | 7345/19578 | 6226/16938 | 2076/5645 | chr1 | 145359913 | |||
| chr1:145373303 | A | G | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4183T>C | p.Ser1395Pro | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/143 | 5302/19578 | 4183/16938 | 1395/5645 | chr1 | 145373303 | |||
| chr1:145373309 | C | T | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4177G>A | p.Asp1393Asn | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/143 | 5296/19578 | 4177/16938 | 1393/5645 | chr1 | 145373309 | |||
| chr1:145373323 | A | C | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4163T>G | p.Val1388Gly | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/143 | 5282/19578 | 4163/16938 | 1388/5645 | chr1 | 145373323 | |||
| chr1:145373329 | T | TTTCTTCC others(50): Show |
1 | a0004 | 1 | NA19085.hp1 | conservative_inframe_insertion | MODERATE | c.4156_4157insGGAAGG others(51): Show |
p.Gln1386delinsArgLy others(55): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/143 | 5275/19578 | 4156/16938 | 1386/5645 | chr1 | 145373329 | |||
| chr1:145373330 | G | C | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4156C>G | p.Gln1386Glu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/143 | 5275/19578 | 4156/16938 | 1386/5645 | chr1 | 145373330 | |||
| chr1:145373331 | G | C | 1 | a0004 | 1 | NA19085.hp1 | stop_gained | HIGH | c.4155C>G | p.Tyr1385* | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/143 | 5274/19578 | 4155/16938 | 1385/5645 | chr1 | 145373331 | |||
| chr1:145373333 | A | T | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4153T>A | p.Tyr1385Asn | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/143 | 5272/19578 | 4153/16938 | 1385/5645 | chr1 | 145373333 | |||
| chr1:145374064 | C | CTCCCACG others(1577): Show |
1 | a0004 | 1 | NA19085.hp1 | stop_gained&conservative_inframe_insertion&splice_region_variant | HIGH | c.4140_4141insAGTGAG others(1578): Show |
p.Asp1380_Glu1381ins others(1584): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5259/19578 | 4140/16938 | 1380/5645 | chr1 | 145374064 | |||
| chr1:145374070 | T | C | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4135A>G | p.Met1379Val | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5254/19578 | 4135/16938 | 1379/5645 | chr1 | 145374070 | |||
| chr1:145374076 | C | G | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4129G>C | p.Val1377Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5248/19578 | 4129/16938 | 1377/5645 | chr1 | 145374076 | |||
| chr1:145374088 | C | G | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4117G>C | p.Val1373Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5236/19578 | 4117/16938 | 1373/5645 | chr1 | 145374088 | |||
| chr1:145374090 | C | T | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4115G>A | p.Arg1372His | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5234/19578 | 4115/16938 | 1372/5645 | chr1 | 145374090 | |||
| chr1:145374091 | G | A | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4114C>T | p.Arg1372Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5233/19578 | 4114/16938 | 1372/5645 | chr1 | 145374091 | |||
| chr1:145374097 | G | C | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4108C>G | p.Gln1370Glu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5227/19578 | 4108/16938 | 1370/5645 | chr1 | 145374097 | |||
| chr1:145374105 | A | G | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4100T>C | p.Val1367Ala | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5219/19578 | 4100/16938 | 1367/5645 | chr1 | 145374105 | |||
| chr1:145374106 | C | A | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4099G>T | p.Val1367Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5218/19578 | 4099/16938 | 1367/5645 | chr1 | 145374106 | |||
| chr1:145374112 | A | C | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4093T>G | p.Phe1365Val | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5212/19578 | 4093/16938 | 1365/5645 | chr1 | 145374112 | |||
| chr1:145374119 | T | G | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4086A>C | p.Arg1362Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5205/19578 | 4086/16938 | 1362/5645 | chr1 | 145374119 | |||
| chr1:145374133 | A | C | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4072T>G | p.Cys1358Gly | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5191/19578 | 4072/16938 | 1358/5645 | chr1 | 145374133 | |||
| chr1:145374135 | G | A | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4070C>T | p.Ser1357Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5189/19578 | 4070/16938 | 1357/5645 | chr1 | 145374135 | |||
| chr1:145374142 | T | G | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4063A>C | p.Thr1355Pro | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5182/19578 | 4063/16938 | 1355/5645 | chr1 | 145374142 | |||
| chr1:145374153 | C | T | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.4052G>A | p.Cys1351Tyr | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5171/19578 | 4052/16938 | 1351/5645 | chr1 | 145374153 | |||
| chr1:145374175 | T | A | 3 | a0003 a0004 a0005 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
missense_variant | MODERATE | c.4030A>T | p.Ser1344Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5149/19578 | 4030/16938 | 1344/5645 | chr1 | 145374175 | |||
| chr1:145374207 | C | T | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.3998G>A | p.Gly1333Glu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5117/19578 | 3998/16938 | 1333/5645 | chr1 | 145374207 | |||
| chr1:145378053 | A | G | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3451T>C | p.Ser1151Pro | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/143 | 4570/19578 | 3451/16938 | 1151/5645 | chr1 | 145378053 | |||
| chr1:145378059 | C | T | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3445G>A | p.Asp1149Asn | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/143 | 4564/19578 | 3445/16938 | 1149/5645 | chr1 | 145378059 | |||
| chr1:145378073 | A | C | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3431T>G | p.Val1144Gly | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/143 | 4550/19578 | 3431/16938 | 1144/5645 | chr1 | 145378073 | |||
| chr1:145378079 | T | TTTCTTCC others(50): Show |
1 | a0002 | 1 | HG01358.hp1 | conservative_inframe_insertion | MODERATE | c.3424_3425insGGAAGG others(51): Show |
p.Gln1142delinsArgLy others(55): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/143 | 4543/19578 | 3424/16938 | 1142/5645 | chr1 | 145378079 | |||
| chr1:145378080 | G | C | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3424C>G | p.Gln1142Glu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/143 | 4543/19578 | 3424/16938 | 1142/5645 | chr1 | 145378080 | |||
| chr1:145378081 | G | C | 1 | a0002 | 1 | HG01358.hp1 | stop_gained | HIGH | c.3423C>G | p.Tyr1141* | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/143 | 4542/19578 | 3423/16938 | 1141/5645 | chr1 | 145378081 | |||
| chr1:145378083 | A | T | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3421T>A | p.Tyr1141Asn | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/143 | 4540/19578 | 3421/16938 | 1141/5645 | chr1 | 145378083 | |||
| chr1:145378814 | C | CTCCCACG others(1577): Show |
1 | a0002 | 1 | HG01358.hp1 | stop_gained&conservative_inframe_insertion&splice_region_variant | HIGH | c.3408_3409insAGTGAG others(1578): Show |
p.Asp1136_Glu1137ins others(1584): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4527/19578 | 3408/16938 | 1136/5645 | chr1 | 145378814 | |||
| chr1:145378820 | T | C | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3403A>G | p.Met1135Val | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4522/19578 | 3403/16938 | 1135/5645 | chr1 | 145378820 | |||
| chr1:145378826 | C | G | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3397G>C | p.Val1133Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4516/19578 | 3397/16938 | 1133/5645 | chr1 | 145378826 | |||
| chr1:145378838 | C | G | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3385G>C | p.Val1129Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4504/19578 | 3385/16938 | 1129/5645 | chr1 | 145378838 | |||
| chr1:145378840 | C | T | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3383G>A | p.Arg1128His | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4502/19578 | 3383/16938 | 1128/5645 | chr1 | 145378840 | |||
| chr1:145378841 | G | A | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3382C>T | p.Arg1128Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4501/19578 | 3382/16938 | 1128/5645 | chr1 | 145378841 | |||
| chr1:145378847 | G | C | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3376C>G | p.Gln1126Glu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4495/19578 | 3376/16938 | 1126/5645 | chr1 | 145378847 | |||
| chr1:145378855 | A | G | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3368T>C | p.Val1123Ala | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4487/19578 | 3368/16938 | 1123/5645 | chr1 | 145378855 | |||
| chr1:145378856 | C | A | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3367G>T | p.Val1123Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4486/19578 | 3367/16938 | 1123/5645 | chr1 | 145378856 | |||
| chr1:145378862 | A | C | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3361T>G | p.Phe1121Val | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4480/19578 | 3361/16938 | 1121/5645 | chr1 | 145378862 | |||
| chr1:145378869 | T | G | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3354A>C | p.Arg1118Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4473/19578 | 3354/16938 | 1118/5645 | chr1 | 145378869 | |||
| chr1:145378883 | A | C | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3340T>G | p.Cys1114Gly | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4459/19578 | 3340/16938 | 1114/5645 | chr1 | 145378883 | |||
| chr1:145378885 | G | A | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3338C>T | p.Ser1113Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4457/19578 | 3338/16938 | 1113/5645 | chr1 | 145378885 | |||
| chr1:145378892 | T | G | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3331A>C | p.Thr1111Pro | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4450/19578 | 3331/16938 | 1111/5645 | chr1 | 145378892 | |||
| chr1:145378903 | C | T | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3320G>A | p.Cys1107Tyr | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4439/19578 | 3320/16938 | 1107/5645 | chr1 | 145378903 | |||
| chr1:145378925 | A | T | 1 | a0005 | 1 | NA19085.hp2 | missense_variant | MODERATE | c.3298T>A | p.Cys1100Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4417/19578 | 3298/16938 | 1100/5645 | chr1 | 145378925 | |||
| chr1:145378957 | C | T | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.3266G>A | p.Gly1089Glu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4385/19578 | 3266/16938 | 1089/5645 | chr1 | 145378957 | |||
| chr1:145379632 | T | G | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.3221A>C | p.Asn1074Thr | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/143 | 4340/19578 | 3221/16938 | 1074/5645 | chr1 | 145379632 | |||
| chr1:145383681 | T | A | 2 | a0002 a0004 |
2 | HG01358.hp1 NA19085.hp1 |
missense_variant | MODERATE | c.2566A>T | p.Ser856Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 27/143 | 3685/19578 | 2566/16938 | 856/5645 | chr1 | 145383681 | |||
| chr1:145384386 | T | G | 1 | a0002 | 1 | HG01358.hp1 | missense_variant | MODERATE | c.2489A>C | p.Asn830Thr | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 26/143 | 3608/19578 | 2489/16938 | 830/5645 | chr1 | 145384386 | |||
| chr1:145386873 | G | A | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.2071C>T | p.Pro691Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 23/143 | 3190/19578 | 2071/16938 | 691/5645 | chr1 | 145386873 | |||
| chr1:145388429 | A | T | 1 | a0005 | 1 | NA19085.hp2 | missense_variant | MODERATE | c.1834T>A | p.Cys612Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 21/143 | 2953/19578 | 1834/16938 | 612/5645 | chr1 | 145388429 | |||
| chr1:145389136 | T | G | 1 | a0003 | 1 | HG01358.hp2 | missense_variant | MODERATE | c.1757A>C | p.Asn586Thr | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 20/143 | 2876/19578 | 1757/16938 | 586/5645 | chr1 | 145389136 | |||
| chr1:145393098 | T | C | 2 | a0003 a0005 |
2 | HG01358.hp2 NA19085.hp2 |
missense_variant | MODERATE | c.1189A>G | p.Ile397Val | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 15/143 | 2308/19578 | 1189/16938 | 397/5645 | chr1 | 145393098 | |||
| chr1:145403288 | G | A | 1 | a0004 | 1 | NA19085.hp1 | missense_variant | MODERATE | c.206C>T | p.Ser69Phe | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 8/143 | 1325/19578 | 206/16938 | 69/5645 | chr1 | 145403288 | |||
| chr1:145403317 | T | G | 1 | a0004 | 1 | NA19085.hp1 | missense_variant&splice_region_variant | MODERATE | c.177A>C | p.Lys59Asn | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 8/143 | 1296/19578 | 177/16938 | 59/5645 | chr1 | 145403317 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:145297972 | G | A | 2 | a0002c0005 a0004c0006 |
2 | HG01358.hp1 NA19085.hp1 |
synonymous_variant | LOW | c.15843C>T | p.Leu5281Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 135/143 | 16962/19578 | 15843/16938 | 5281/5645 | chr1 | 145297972 | |||
| chr1:145302734 | A | G | 2 | a0003c0002 a0004c0006 |
2 | HG01358.hp2 NA19085.hp1 |
synonymous_variant | LOW | c.15111T>C | p.Leu5037Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 129/143 | 16230/19578 | 15111/16938 | 5037/5645 | chr1 | 145302734 | |||
| chr1:145305090 | A | G | 2 | a0003c0002 a0004c0006 |
2 | HG01358.hp2 NA19085.hp1 |
synonymous_variant | LOW | c.14703T>C | p.Asp4901Asp | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/143 | 15822/19578 | 14703/16938 | 4901/5645 | chr1 | 145305090 | |||
| chr1:145305903 | A | G | 1 | a0005c0004 | 1 | NA19085.hp2 | synonymous_variant | LOW | c.14604T>C | p.Leu4868Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/143 | 15723/19578 | 14604/16938 | 4868/5645 | chr1 | 145305903 | |||
| chr1:145307478 | G | A | 2 | a0003c0002 a0004c0006 |
2 | HG01358.hp2 NA19085.hp1 |
splice_region_variant&synonymous_variant | LOW | c.14388C>T | p.Asp4796Asp | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15507/19578 | 14388/16938 | 4796/5645 | chr1 | 145307478 | |||
| chr1:145307502 | G | A | 2 | a0003c0002 a0004c0006 |
2 | HG01358.hp2 NA19085.hp1 |
synonymous_variant | LOW | c.14364C>T | p.Tyr4788Tyr | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15483/19578 | 14364/16938 | 4788/5645 | chr1 | 145307502 | |||
| chr1:145307526 | A | G | 2 | a0003c0002 a0004c0006 |
2 | HG01358.hp2 NA19085.hp1 |
synonymous_variant | LOW | c.14340T>C | p.Ala4780Ala | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15459/19578 | 14340/16938 | 4780/5645 | chr1 | 145307526 | |||
| chr1:145307580 | C | T | 2 | a0003c0002 a0004c0006 |
2 | HG01358.hp2 NA19085.hp1 |
synonymous_variant | LOW | c.14286G>A | p.Ser4762Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/143 | 15405/19578 | 14286/16938 | 4762/5645 | chr1 | 145307580 | |||
| chr1:145309086 | A | G | 3 | a0002c0005 a0003c0002 a0005c0004 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp2 |
synonymous_variant | LOW | c.14097T>C | p.Leu4699Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 121/143 | 15216/19578 | 14097/16938 | 4699/5645 | chr1 | 145309086 | |||
| chr1:145318614 | A | G | 3 | a0002c0005 a0004c0006 a0005c0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
synonymous_variant | LOW | c.12633T>C | p.Leu4211Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 109/143 | 13752/19578 | 12633/16938 | 4211/5645 | chr1 | 145318614 | |||
| chr1:145328124 | A | G | 3 | a0002c0005 a0003c0002 a0004c0006 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
synonymous_variant | LOW | c.11169T>C | p.Leu3723Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 97/143 | 12288/19578 | 11169/16938 | 3723/5645 | chr1 | 145328124 | |||
| chr1:145337647 | A | G | 2 | a0002c0005 a0003c0002 |
2 | HG01358.hp1 HG01358.hp2 |
synonymous_variant | LOW | c.9705T>C | p.Leu3235Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 85/143 | 10824/19578 | 9705/16938 | 3235/5645 | chr1 | 145337647 | |||
| chr1:145342397 | G | A | 2 | a0002c0005 a0004c0006 |
2 | HG01358.hp1 NA19085.hp1 |
synonymous_variant | LOW | c.8973C>T | p.Leu2991Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 79/143 | 10092/19578 | 8973/16938 | 2991/5645 | chr1 | 145342397 | |||
| chr1:145347155 | G | A | 2 | a0002c0005 a0003c0002 |
2 | HG01358.hp1 HG01358.hp2 |
synonymous_variant | LOW | c.8241C>T | p.Leu2747Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 73/143 | 9360/19578 | 8241/16938 | 2747/5645 | chr1 | 145347155 | |||
| chr1:145351927 | G | A | 2 | a0003c0002 a0004c0006 |
2 | HG01358.hp2 NA19085.hp1 |
synonymous_variant | LOW | c.7509C>T | p.Leu2503Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 67/143 | 8628/19578 | 7509/16938 | 2503/5645 | chr1 | 145351927 | |||
| chr1:145356689 | G | A | 1 | a0003c0002 | 1 | HG01358.hp2 | synonymous_variant | LOW | c.6777C>T | p.Leu2259Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 61/143 | 7896/19578 | 6777/16938 | 2259/5645 | chr1 | 145356689 | |||
| chr1:145361436 | G | A | 1 | a0003c0002 | 1 | HG01358.hp2 | synonymous_variant | LOW | c.6045C>T | p.Leu2015Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 55/143 | 7164/19578 | 6045/16938 | 2015/5645 | chr1 | 145361436 | |||
| chr1:145370950 | G | A | 3 | a0003c0002 a0004c0006 a0005c0004 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
synonymous_variant | LOW | c.4581C>T | p.Leu1527Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 43/143 | 5700/19578 | 4581/16938 | 1527/5645 | chr1 | 145370950 | |||
| chr1:145372666 | C | T | 1 | a0003c0002 | 1 | HG01358.hp2 | synonymous_variant | LOW | c.4212G>A | p.Leu1404Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 41/143 | 5331/19578 | 4212/16938 | 1404/5645 | chr1 | 145372666 | |||
| chr1:145373313 | G | A | 1 | a0004c0006 | 1 | NA19085.hp1 | synonymous_variant | LOW | c.4173C>T | p.Asp1391Asp | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/143 | 5292/19578 | 4173/16938 | 1391/5645 | chr1 | 145373313 | |||
| chr1:145374065 | A | G | 1 | a0004c0006 | 1 | NA19085.hp1 | splice_region_variant&synonymous_variant | LOW | c.4140T>C | p.Asp1380Asp | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5259/19578 | 4140/16938 | 1380/5645 | chr1 | 145374065 | |||
| chr1:145374089 | A | G | 1 | a0004c0006 | 1 | NA19085.hp1 | synonymous_variant | LOW | c.4116T>C | p.Arg1372Arg | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5235/19578 | 4116/16938 | 1372/5645 | chr1 | 145374089 | |||
| chr1:145374113 | G | A | 1 | a0004c0006 | 1 | NA19085.hp1 | synonymous_variant | LOW | c.4092C>T | p.Ala1364Ala | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5211/19578 | 4092/16938 | 1364/5645 | chr1 | 145374113 | |||
| chr1:145374167 | T | C | 1 | a0004c0006 | 1 | NA19085.hp1 | synonymous_variant | LOW | c.4038A>G | p.Ser1346Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/143 | 5157/19578 | 4038/16938 | 1346/5645 | chr1 | 145374167 | |||
| chr1:145378063 | G | A | 1 | a0002c0005 | 1 | HG01358.hp1 | synonymous_variant | LOW | c.3441C>T | p.Asp1147Asp | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/143 | 4560/19578 | 3441/16938 | 1147/5645 | chr1 | 145378063 | |||
| chr1:145378815 | A | G | 1 | a0002c0005 | 1 | HG01358.hp1 | splice_region_variant&synonymous_variant | LOW | c.3408T>C | p.Asp1136Asp | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4527/19578 | 3408/16938 | 1136/5645 | chr1 | 145378815 | |||
| chr1:145378839 | A | G | 1 | a0002c0005 | 1 | HG01358.hp1 | synonymous_variant | LOW | c.3384T>C | p.Arg1128Arg | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4503/19578 | 3384/16938 | 1128/5645 | chr1 | 145378839 | |||
| chr1:145378863 | G | A | 1 | a0002c0005 | 1 | HG01358.hp1 | synonymous_variant | LOW | c.3360C>T | p.Ala1120Ala | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4479/19578 | 3360/16938 | 1120/5645 | chr1 | 145378863 | |||
| chr1:145378917 | T | C | 1 | a0002c0005 | 1 | HG01358.hp1 | synonymous_variant | LOW | c.3306A>G | p.Ser1102Ser | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/143 | 4425/19578 | 3306/16938 | 1102/5645 | chr1 | 145378917 | |||
| chr1:145380450 | G | A | 3 | a0003c0002 a0004c0006 a0005c0004 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
synonymous_variant | LOW | c.3117C>T | p.Leu1039Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 31/143 | 4236/19578 | 3117/16938 | 1039/5645 | chr1 | 145380450 | |||
| chr1:145382025 | G | A | 1 | a0004c0006 | 1 | NA19085.hp1 | synonymous_variant | LOW | c.2895C>T | p.Asp965Asp | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 29/143 | 4014/19578 | 2895/16938 | 965/5645 | chr1 | 145382025 | |||
| chr1:145389954 | A | G | 1 | a0003c0002 | 1 | HG01358.hp2 | synonymous_variant | LOW | c.1653T>C | p.Leu551Leu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 19/143 | 2772/19578 | 1653/16938 | 551/5645 | chr1 | 145389954 | |||
| chr1:145395108 | G | A | 1 | a0004c0006 | 1 | NA19085.hp1 | synonymous_variant | LOW | c.858C>T | p.Pro286Pro | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 13/143 | 1977/19578 | 858/16938 | 286/5645 | chr1 | 145395108 | |||
| chr1:145400543 | T | C | 1 | a0002c0005 | 1 | HG01358.hp1 | synonymous_variant | LOW | c.618A>G | p.Glu206Glu | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 11/143 | 1737/19578 | 618/16938 | 206/5645 | chr1 | 145400543 | |||
| chr1:145403305 | G | A | 1 | a0004c0006 | 1 | NA19085.hp1 | synonymous_variant | LOW | c.189C>T | p.Cys63Cys | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 8/143 | 1308/19578 | 189/16938 | 63/5645 | chr1 | 145403305 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:145290893 | A | G | 2 | a0003c0002t0001 a0005c0004t0001 |
2 | HG01358.hp2 NA19085.hp2 |
3_prime_UTR_variant | MODIFIER | c.*633T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 143/143 | 633 | chr1 | 145290893 | ||||||
| chr1:145291325 | C | T | 1 | a0004c0006t0003 | 1 | NA19085.hp1 | 3_prime_UTR_variant | MODIFIER | c.*201G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 143/143 | 201 | chr1 | 145291325 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:145292023 | G | A | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.16695-254C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 142/142 | chr1 | 145292023 | |||||||
| chr1:145292606 | T | C | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.16586-117A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 141/142 | chr1 | 145292606 | |||||||
| chr1:145292607 | T | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.16586-118A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 141/142 | chr1 | 145292607 | |||||||
| chr1:145292967 | G | A | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.16585+237C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 141/142 | chr1 | 145292967 | |||||||
| chr1:145293573 | G | GACACACA others(3): Show |
1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.16413-207_16413-19 others(14): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 140/142 | chr1 | 145293573 | |||||||
| chr1:145293575 | C | CACACACA others(3): Show |
3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0005c0004t0001g0004 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.16413-200_16413-19 others(14): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 140/142 | chr1 | 145293575 | |||||||
| chr1:145293625 | C | G | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.16413-249G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 140/142 | chr1 | 145293625 | |||||||
| chr1:145294285 | C | T | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.16361-213G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 139/142 | chr1 | 145294285 | |||||||
| chr1:145296578 | T | A | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.15963-68A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 136/142 | chr1 | 145296578 | |||||||
| chr1:145297749 | C | T | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.15853+213G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 135/142 | chr1 | 145297749 | |||||||
| chr1:145298393 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.15681-259C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 134/142 | chr1 | 145298393 | |||||||
| chr1:145299923 | G | GGAGA | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.15456-207_15456-20 others(8): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 132/142 | chr1 | 145299923 | |||||||
| chr1:145300747 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.15403+353C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 131/142 | chr1 | 145300747 | |||||||
| chr1:145300856 | G | A | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.15403+244C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 131/142 | chr1 | 145300856 | |||||||
| chr1:145300913 | T | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.15403+187A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 131/142 | chr1 | 145300913 | |||||||
| chr1:145301868 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.15230+33G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 130/142 | chr1 | 145301868 | |||||||
| chr1:145302511 | T | C | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.15121+213A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 129/142 | chr1 | 145302511 | |||||||
| chr1:145303117 | C | CAGACACA others(9): Show |
1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.14949-222_14949-22 others(20): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 128/142 | chr1 | 145303117 | |||||||
| chr1:145303121 | C | CACACACA others(3): Show |
1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.14949-226_14949-22 others(14): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 128/142 | chr1 | 145303121 | |||||||
| chr1:145303121 | C | G | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.14949-225G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 128/142 | chr1 | 145303121 | |||||||
| chr1:145303133 | G | GACACACA others(9): Show |
1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.14949-238_14949-23 others(20): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 128/142 | chr1 | 145303133 | |||||||
| chr1:145303135 | G | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.14949-239C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 128/142 | chr1 | 145303135 | |||||||
| chr1:145303137 | G | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.14949-241C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 128/142 | chr1 | 145303137 | |||||||
| chr1:145304013 | C | G | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.14896+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 127/142 | chr1 | 145304013 | |||||||
| chr1:145304616 | G | C | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.14724-150C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304616 | |||||||
| chr1:145304669 | G | GGAGA | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14724-207_14724-20 others(8): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304669 | |||||||
| chr1:145304697 | G | A | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14724-231C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304697 | |||||||
| chr1:145304886 | T | TAAATGAT others(1568): Show |
1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.14723+183_14723+18 others(1579): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304886 | |||||||
| chr1:145304886 | T | TAAATGAT others(1568): Show |
1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.14723+183_14723+18 others(1579): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304886 | |||||||
| chr1:145304950 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+120C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304950 | |||||||
| chr1:145304951 | A | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+119T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304951 | |||||||
| chr1:145304955 | T | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+115A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304955 | |||||||
| chr1:145304968 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+102C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304968 | |||||||
| chr1:145304987 | C | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+83G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304987 | |||||||
| chr1:145304990 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+80G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304990 | |||||||
| chr1:145304991 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+79T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145304991 | |||||||
| chr1:145305000 | C | CT | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+69dupA | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305000 | |||||||
| chr1:145305003 | G | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+67C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305003 | |||||||
| chr1:145305012 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+58T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305012 | |||||||
| chr1:145305014 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+56A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305014 | |||||||
| chr1:145305018 | T | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+52A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305018 | |||||||
| chr1:145305019 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+51A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305019 | |||||||
| chr1:145305020 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+50C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305020 | |||||||
| chr1:145305021 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+49G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305021 | |||||||
| chr1:145305032 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+38A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305032 | |||||||
| chr1:145305033 | A | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.14723+37T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305033 | |||||||
| chr1:145305053 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+17G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305053 | |||||||
| chr1:145305061 | G | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14723+9C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305061 | |||||||
| chr1:145305067 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
splice_region_variant&intron_variant | LOW | c.14723+3G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 126/142 | chr1 | 145305067 | |||||||
| chr1:145305188 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-10T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305188 | |||||||
| chr1:145305207 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-29G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305207 | |||||||
| chr1:145305217 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-39T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305217 | |||||||
| chr1:145305221 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-43G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305221 | |||||||
| chr1:145305265 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-87G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305265 | |||||||
| chr1:145305282 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-104T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305282 | |||||||
| chr1:145305295 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-117G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305295 | |||||||
| chr1:145305306 | T | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-128A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305306 | |||||||
| chr1:145305307 | A | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-129T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305307 | |||||||
| chr1:145305308 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-130A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305308 | |||||||
| chr1:145305329 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-151C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305329 | |||||||
| chr1:145305333 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-155A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305333 | |||||||
| chr1:145305334 | G | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-156C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305334 | |||||||
| chr1:145305340 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-162T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305340 | |||||||
| chr1:145305347 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-169G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305347 | |||||||
| chr1:145305355 | C | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-177G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305355 | |||||||
| chr1:145305377 | TG | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-200delC | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305377 | |||||||
| chr1:145305389 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-211T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305389 | |||||||
| chr1:145305433 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-255G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305433 | |||||||
| chr1:145305434 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-256T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305434 | |||||||
| chr1:145305457 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-279T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305457 | |||||||
| chr1:145305459 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-281G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305459 | |||||||
| chr1:145305471 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-293T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305471 | |||||||
| chr1:145305475 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-297A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305475 | |||||||
| chr1:145305482 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-304T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305482 | |||||||
| chr1:145305485 | T | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-307A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305485 | |||||||
| chr1:145305503 | A | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-325T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305503 | |||||||
| chr1:145305508 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14615-330A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305508 | |||||||
| chr1:145305541 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+352A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305541 | |||||||
| chr1:145305545 | T | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+348A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305545 | |||||||
| chr1:145305547 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+346A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305547 | |||||||
| chr1:145305553 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+340G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305553 | |||||||
| chr1:145305561 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+332T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305561 | |||||||
| chr1:145305578 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+315T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305578 | |||||||
| chr1:145305579 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+314T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305579 | |||||||
| chr1:145305581 | G | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+312C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305581 | |||||||
| chr1:145305592 | A | AGATCTAC | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+300_14614+30 others(11): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305592 | |||||||
| chr1:145305594 | C | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+299G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305594 | |||||||
| chr1:145305595 | C | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+298G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305595 | |||||||
| chr1:145305596 | C | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+297G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305596 | |||||||
| chr1:145305602 | T | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+291A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305602 | |||||||
| chr1:145305611 | T | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+282A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305611 | |||||||
| chr1:145305616 | C | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+277G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305616 | |||||||
| chr1:145305618 | C | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+275G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305618 | |||||||
| chr1:145305647 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+246A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305647 | |||||||
| chr1:145305656 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+237C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305656 | |||||||
| chr1:145305657 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+236T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305657 | |||||||
| chr1:145305664 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+229G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305664 | |||||||
| chr1:145305678 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+215A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305678 | |||||||
| chr1:145305702 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+191A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305702 | |||||||
| chr1:145305726 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+167G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305726 | |||||||
| chr1:145305738 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+155C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305738 | |||||||
| chr1:145305741 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+152T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305741 | |||||||
| chr1:145305779 | T | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+114A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305779 | |||||||
| chr1:145305815 | T | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+78A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305815 | |||||||
| chr1:145305825 | G | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+68C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305825 | |||||||
| chr1:145305828 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+65G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305828 | |||||||
| chr1:145305838 | AT | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+54delA | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305838 | |||||||
| chr1:145305841 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+52A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305841 | |||||||
| chr1:145305842 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+51A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305842 | |||||||
| chr1:145305845 | T | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+48A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305845 | |||||||
| chr1:145305846 | A | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+47T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305846 | |||||||
| chr1:145305847 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+46A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305847 | |||||||
| chr1:145305848 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14614+45C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 125/142 | chr1 | 145305848 | |||||||
| chr1:145306316 | CAGAG | C | 2 | a0002c0005t0002g0006 a0005c0004t0001g0004 |
2 | HG01358.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.14442-255_14442-25 others(8): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 124/142 | chr1 | 145306316 | |||||||
| chr1:145307182 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.14389+295G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/142 | chr1 | 145307182 | |||||||
| chr1:145307196 | G | C | 2 | a0002c0005t0002g0006 a0005c0004t0001g0004 |
2 | HG01358.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.14389+281C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 123/142 | chr1 | 145307196 | |||||||
| chr1:145307660 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-11T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307660 | |||||||
| chr1:145307729 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-80T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307729 | |||||||
| chr1:145307737 | C | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-88G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307737 | |||||||
| chr1:145307738 | T | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-89A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307738 | |||||||
| chr1:145307743 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-94T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307743 | |||||||
| chr1:145307777 | T | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-128A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307777 | |||||||
| chr1:145307778 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-129C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307778 | |||||||
| chr1:145307799 | G | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.14217-150C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307799 | |||||||
| chr1:145307805 | C | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-156G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307805 | |||||||
| chr1:145307823 | G | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-174C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307823 | |||||||
| chr1:145307842 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-193C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307842 | |||||||
| chr1:145307848 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-199C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307848 | |||||||
| chr1:145307852 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-203C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307852 | |||||||
| chr1:145307857 | G | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-208C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307857 | |||||||
| chr1:145307863 | G | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-214C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307863 | |||||||
| chr1:145307871 | G | GAGACAGA others(12): Show |
2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-223_14217-22 others(23): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307871 | |||||||
| chr1:145307880 | G | A | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.14217-231C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307880 | |||||||
| chr1:145307882 | G | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-233C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307882 | |||||||
| chr1:145307884 | TC | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-236delG | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307884 | |||||||
| chr1:145307888 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-239G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307888 | |||||||
| chr1:145307891 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-242C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307891 | |||||||
| chr1:145307898 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-249C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307898 | |||||||
| chr1:145307906 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-257G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307906 | |||||||
| chr1:145307911 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-262T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307911 | |||||||
| chr1:145307913 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-264C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307913 | |||||||
| chr1:145307915 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-266T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307915 | |||||||
| chr1:145307918 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-269C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307918 | |||||||
| chr1:145307921 | C | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-272G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307921 | |||||||
| chr1:145307948 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-299C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307948 | |||||||
| chr1:145307949 | G | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14217-300C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307949 | |||||||
| chr1:145307960 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+293C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307960 | |||||||
| chr1:145307964 | A | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+289T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307964 | |||||||
| chr1:145307983 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+270C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307983 | |||||||
| chr1:145307992 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+261T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145307992 | |||||||
| chr1:145308004 | C | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+249G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308004 | |||||||
| chr1:145308005 | T | TA | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+247_14216+24 others(5): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308005 | |||||||
| chr1:145308013 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+240C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308013 | |||||||
| chr1:145308018 | C | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+235G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308018 | |||||||
| chr1:145308026 | T | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+227A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308026 | |||||||
| chr1:145308030 | A | ATGAGAG | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+222_14216+22 others(10): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308030 | |||||||
| chr1:145308037 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+216G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308037 | |||||||
| chr1:145308043 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+210C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308043 | |||||||
| chr1:145308059 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+194T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308059 | |||||||
| chr1:145308063 | A | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.14216+190T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308063 | |||||||
| chr1:145308069 | T | TAAATGAT others(1566): Show |
1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.14216+183_14216+18 others(1577): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308069 | |||||||
| chr1:145308069 | T | TAAATGAT others(1568): Show |
1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.14216+183_14216+18 others(1579): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308069 | |||||||
| chr1:145308233 | C | A | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.14216+20G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 122/142 | chr1 | 145308233 | |||||||
| chr1:145308440 | A | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.14108-79T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 121/142 | chr1 | 145308440 | |||||||
| chr1:145309471 | CACACACA others(3): Show |
C | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.13935-233_13935-22 others(14): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 120/142 | chr1 | 145309471 | |||||||
| chr1:145309481 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.13935-233C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 120/142 | chr1 | 145309481 | |||||||
| chr1:145309485 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.13935-237G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 120/142 | chr1 | 145309485 | |||||||
| chr1:145309497 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.13935-249G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 120/142 | chr1 | 145309497 | |||||||
| chr1:145309499 | G | C | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.13935-251C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 120/142 | chr1 | 145309499 | |||||||
| chr1:145309501 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.13935-253C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 120/142 | chr1 | 145309501 | |||||||
| chr1:145310363 | C | G | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.13882+295G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 119/142 | chr1 | 145310363 | |||||||
| chr1:145310458 | G | T | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.13882+200C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 119/142 | chr1 | 145310458 | |||||||
| chr1:145310980 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.13710-150C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 118/142 | chr1 | 145310980 | |||||||
| chr1:145311063 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.13710-233T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 118/142 | chr1 | 145311063 | |||||||
| chr1:145311316 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.13709+121T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 118/142 | chr1 | 145311316 | |||||||
| chr1:145311400 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.13709+37T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 118/142 | chr1 | 145311400 | |||||||
| chr1:145311644 | G | C | 2 | a0002c0005t0002g0006 a0003c0002t0001g0003 |
2 | HG01358.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.13658-156C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 117/142 | chr1 | 145311644 | |||||||
| chr1:145311870 | G | A | 3 | a0003c0002t0001g0003 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.13657+338C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 117/142 | chr1 | 145311870 | |||||||
| chr1:145313196 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.13376-79T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 115/142 | chr1 | 145313196 | |||||||
| chr1:145314227 | CACACACA others(7): Show |
C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.13203-237_13203-22 others(18): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 114/142 | chr1 | 145314227 | |||||||
| chr1:145314235 | CACACAGA others(11): Show |
C | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.13203-249_13203-23 others(22): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 114/142 | chr1 | 145314235 | |||||||
| chr1:145314265 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.13203-261G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 114/142 | chr1 | 145314265 | |||||||
| chr1:145314267 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.13203-263G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 114/142 | chr1 | 145314267 | |||||||
| chr1:145314269 | G | C | 2 | a0004c0006t0003g0002 a0005c0004t0001g0004 |
2 | NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.13203-265C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 114/142 | chr1 | 145314269 | |||||||
| chr1:145314271 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.13203-267C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 114/142 | chr1 | 145314271 | |||||||
| chr1:145315131 | C | G | 3 | a0003c0002t0001g0003 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.13150+295G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 113/142 | chr1 | 145315131 | |||||||
| chr1:145315145 | C | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.13150+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 113/142 | chr1 | 145315145 | |||||||
| chr1:145315226 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.13150+200C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 113/142 | chr1 | 145315226 | |||||||
| chr1:145315602 | GA | G | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0005c0004t0001g0004 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp2 |
splice_region_variant&intron_variant | LOW | c.12978-5delT | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 112/142 | chr1 | 145315602 | |||||||
| chr1:145317748 | C | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.12752+33G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 110/142 | chr1 | 145317748 | |||||||
| chr1:145317761 | C | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.12752+20G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 110/142 | chr1 | 145317761 | |||||||
| chr1:145317968 | A | G | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.12644-79T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 109/142 | chr1 | 145317968 | |||||||
| chr1:145318140 | C | T | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.12644-251G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 109/142 | chr1 | 145318140 | |||||||
| chr1:145319039 | G | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.12471-263C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 108/142 | chr1 | 145319039 | |||||||
| chr1:145319901 | C | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.12418+295G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 107/142 | chr1 | 145319901 | |||||||
| chr1:145319915 | C | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.12418+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 107/142 | chr1 | 145319915 | |||||||
| chr1:145319996 | G | T | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.12418+200C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 107/142 | chr1 | 145319996 | |||||||
| chr1:145320372 | GA | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
splice_region_variant&intron_variant | LOW | c.12246-5delT | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 106/142 | chr1 | 145320372 | |||||||
| chr1:145321176 | G | C | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0005c0004t0001g0004 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.12194-156C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 105/142 | chr1 | 145321176 | |||||||
| chr1:145321402 | G | A | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.12193+338C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 105/142 | chr1 | 145321402 | |||||||
| chr1:145322126 | CAG | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.12021-216_12021-21 others(6): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 104/142 | chr1 | 145322126 | |||||||
| chr1:145322510 | C | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.12020+33G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 104/142 | chr1 | 145322510 | |||||||
| chr1:145322730 | A | G | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.11912-79T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 103/142 | chr1 | 145322730 | |||||||
| chr1:145323761 | G | C | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.11739-223C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 102/142 | chr1 | 145323761 | |||||||
| chr1:145323773 | G | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.11739-235C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 102/142 | chr1 | 145323773 | |||||||
| chr1:145323785 | C | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.11739-247G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 102/142 | chr1 | 145323785 | |||||||
| chr1:145323787 | C | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.11739-249G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 102/142 | chr1 | 145323787 | |||||||
| chr1:145323789 | G | C | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.11739-251C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 102/142 | chr1 | 145323789 | |||||||
| chr1:145324651 | C | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.11686+295G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 101/142 | chr1 | 145324651 | |||||||
| chr1:145324746 | G | T | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.11686+200C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 101/142 | chr1 | 145324746 | |||||||
| chr1:145325317 | G | GGAGGGAG others(1): Show |
2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.11514-200_11514-19 others(12): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 100/142 | chr1 | 145325317 | |||||||
| chr1:145325501 | C | A | 2 | a0004c0006t0003g0002 a0005c0004t0001g0004 |
2 | NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.11513+218G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 100/142 | chr1 | 145325501 | |||||||
| chr1:145327258 | C | G | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.11288+33G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 98/142 | chr1 | 145327258 | |||||||
| chr1:145328507 | CACACACA others(7): Show |
C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.11007-235_11007-22 others(18): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 96/142 | chr1 | 145328507 | |||||||
| chr1:145328511 | CACACACA others(3): Show |
C | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.11007-235_11007-22 others(14): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 96/142 | chr1 | 145328511 | |||||||
| chr1:145328515 | CACACAGA others(11): Show |
C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.11007-247_11007-23 others(22): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 96/142 | chr1 | 145328515 | |||||||
| chr1:145328533 | G | C | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.11007-247C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 96/142 | chr1 | 145328533 | |||||||
| chr1:145328545 | C | G | 3 | a0003c0002t0001g0003 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.11007-259G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 96/142 | chr1 | 145328545 | |||||||
| chr1:145328547 | C | G | 3 | a0003c0002t0001g0003 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.11007-261G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 96/142 | chr1 | 145328547 | |||||||
| chr1:145328549 | G | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.11007-263C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 96/142 | chr1 | 145328549 | |||||||
| chr1:145329425 | G | C | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.10954+281C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 95/142 | chr1 | 145329425 | |||||||
| chr1:145330268 | C | A | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.10781+218G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 94/142 | chr1 | 145330268 | |||||||
| chr1:145332025 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.10556+33G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 92/142 | chr1 | 145332025 | |||||||
| chr1:145332417 | C | T | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.10448-251G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 91/142 | chr1 | 145332417 | |||||||
| chr1:145334185 | G | A | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.10222+274C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 89/142 | chr1 | 145334185 | |||||||
| chr1:145334834 | GGA | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.10050-205_10050-20 others(6): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 88/142 | chr1 | 145334834 | |||||||
| chr1:145335024 | A | C | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.10049+218T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 88/142 | chr1 | 145335024 | |||||||
| chr1:145338042 | C | CAGACACA others(7): Show |
1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.9543-234_9543-233i others(16): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 84/142 | chr1 | 145338042 | |||||||
| chr1:145338042 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.9543-233G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 84/142 | chr1 | 145338042 | |||||||
| chr1:145338054 | G | C | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.9543-245C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 84/142 | chr1 | 145338054 | |||||||
| chr1:145338056 | G | C | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.9543-247C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 84/142 | chr1 | 145338056 | |||||||
| chr1:145338058 | G | C | 2 | a0002c0005t0002g0006 a0003c0002t0001g0003 |
2 | HG01358.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.9543-249C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 84/142 | chr1 | 145338058 | |||||||
| chr1:145338920 | G | C | 2 | a0002c0005t0002g0006 a0003c0002t0001g0003 |
2 | HG01358.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.9490+295C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 83/142 | chr1 | 145338920 | |||||||
| chr1:145338934 | G | C | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.9490+281C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 83/142 | chr1 | 145338934 | |||||||
| chr1:145339590 | G | GGA | 2 | a0002c0005t0002g0006 a0003c0002t0001g0003 |
2 | HG01358.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.9318-205_9318-204d others(4): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 82/142 | chr1 | 145339590 | |||||||
| chr1:145339778 | C | A | 2 | a0002c0005t0002g0006 a0003c0002t0001g0003 |
2 | HG01358.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.9317+218G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 82/142 | chr1 | 145339778 | |||||||
| chr1:145341129 | C | CAGAG | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.9093-194_9093-191d others(6): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 80/142 | chr1 | 145341129 | |||||||
| chr1:145342756 | G | GAAACACA others(3): Show |
1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.8811-198_8811-197i others(12): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 78/142 | chr1 | 145342756 | |||||||
| chr1:145342784 | C | CACACACA others(3): Show |
1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.8811-226_8811-225i others(12): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 78/142 | chr1 | 145342784 | |||||||
| chr1:145342784 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.8811-225G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 78/142 | chr1 | 145342784 | |||||||
| chr1:145342808 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.8811-249G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 78/142 | chr1 | 145342808 | |||||||
| chr1:145342810 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.8811-251G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 78/142 | chr1 | 145342810 | |||||||
| chr1:145342812 | C | G | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.8811-253G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 78/142 | chr1 | 145342812 | |||||||
| chr1:145343674 | C | G | 3 | a0002c0005t0002g0006 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.8758+295G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 77/142 | chr1 | 145343674 | |||||||
| chr1:145343688 | C | G | 3 | a0002c0005t0002g0006 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.8758+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 77/142 | chr1 | 145343688 | |||||||
| chr1:145344532 | C | A | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.8585+218G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 76/142 | chr1 | 145344532 | |||||||
| chr1:145346509 | G | A | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.8252-79C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 73/142 | chr1 | 145346509 | |||||||
| chr1:145347518 | C | A | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.8079-201G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 72/142 | chr1 | 145347518 | |||||||
| chr1:145347558 | CACACACA others(5): Show |
C | 2 | a0004c0006t0003g0002 a0005c0004t0001g0004 |
2 | NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.8079-253_8079-242d others(14): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 72/142 | chr1 | 145347558 | |||||||
| chr1:145347566 | GACAAACA others(5): Show |
G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.8079-261_8079-250d others(14): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 72/142 | chr1 | 145347566 | |||||||
| chr1:145347570 | A | C | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.8079-253T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 72/142 | chr1 | 145347570 | |||||||
| chr1:145347580 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.8079-263G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 72/142 | chr1 | 145347580 | |||||||
| chr1:145347582 | G | C | 2 | a0004c0006t0003g0002 a0005c0004t0001g0004 |
2 | NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.8079-265C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 72/142 | chr1 | 145347582 | |||||||
| chr1:145348444 | C | G | 2 | a0002c0005t0002g0006 a0003c0002t0001g0003 |
2 | HG01358.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.8026+295G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 71/142 | chr1 | 145348444 | |||||||
| chr1:145348458 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.8026+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 71/142 | chr1 | 145348458 | |||||||
| chr1:145352320 | CACACACA others(3): Show |
C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.7347-241_7347-232d others(12): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 66/142 | chr1 | 145352320 | |||||||
| chr1:145352342 | C | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.7347-253G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 66/142 | chr1 | 145352342 | |||||||
| chr1:145352344 | C | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.7347-255G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 66/142 | chr1 | 145352344 | |||||||
| chr1:145352346 | C | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.7347-257G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 66/142 | chr1 | 145352346 | |||||||
| chr1:145353208 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.7294+295G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 65/142 | chr1 | 145353208 | |||||||
| chr1:145353222 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.7294+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 65/142 | chr1 | 145353222 | |||||||
| chr1:145356043 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.6788-79T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 61/142 | chr1 | 145356043 | |||||||
| chr1:145357074 | C | CACACACA others(13): Show |
1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.6615-224_6615-223i others(22): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 60/142 | chr1 | 145357074 | |||||||
| chr1:145357078 | C | CACACACA others(11): Show |
1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.6615-228_6615-227i others(20): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 60/142 | chr1 | 145357078 | |||||||
| chr1:145357078 | C | CACACACA others(13): Show |
1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.6615-228_6615-227i others(22): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 60/142 | chr1 | 145357078 | |||||||
| chr1:145357090 | G | C | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.6615-239C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 60/142 | chr1 | 145357090 | |||||||
| chr1:145357092 | G | C | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.6615-241C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 60/142 | chr1 | 145357092 | |||||||
| chr1:145357094 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.6615-243C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 60/142 | chr1 | 145357094 | |||||||
| chr1:145357956 | G | C | 3 | a0002c0005t0002g0006 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.6562+295C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 59/142 | chr1 | 145357956 | |||||||
| chr1:145357970 | C | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.6562+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 59/142 | chr1 | 145357970 | |||||||
| chr1:145358051 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.6562+200C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 59/142 | chr1 | 145358051 | |||||||
| chr1:145359163 | A | G | 3 | a0003c0002t0001g0003 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.6338-81T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 57/142 | chr1 | 145359163 | |||||||
| chr1:145359191 | T | C | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.6338-109A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 57/142 | chr1 | 145359191 | |||||||
| chr1:145359238 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.6338-156G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 57/142 | chr1 | 145359238 | |||||||
| chr1:145359464 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.6337+338C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 57/142 | chr1 | 145359464 | |||||||
| chr1:145360176 | GAGAGACA others(17): Show |
G | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.6165-226_6165-203d others(26): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 56/142 | chr1 | 145360176 | |||||||
| chr1:145360790 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.6056-79T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 55/142 | chr1 | 145360790 | |||||||
| chr1:145361308 | T | C | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.6055+118A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 55/142 | chr1 | 145361308 | |||||||
| chr1:145361618 | T | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.5883-20A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 54/142 | chr1 | 145361618 | |||||||
| chr1:145362804 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.5830+200C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 53/142 | chr1 | 145362804 | |||||||
| chr1:145363917 | A | G | 3 | a0003c0002t0001g0003 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.5606-81T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 51/142 | chr1 | 145363917 | |||||||
| chr1:145363945 | T | C | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.5606-109A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 51/142 | chr1 | 145363945 | |||||||
| chr1:145366591 | GACACACA others(5): Show |
G | 3 | a0002c0005t0002g0006 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.5151-251_5151-240d others(14): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 48/142 | chr1 | 145366591 | |||||||
| chr1:145366605 | C | G | 3 | a0002c0005t0002g0006 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.5151-253G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 48/142 | chr1 | 145366605 | |||||||
| chr1:145366607 | C | G | 3 | a0002c0005t0002g0006 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.5151-255G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 48/142 | chr1 | 145366607 | |||||||
| chr1:145367469 | C | G | 3 | a0002c0005t0002g0006 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.5098+295G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 47/142 | chr1 | 145367469 | |||||||
| chr1:145367483 | C | G | 3 | a0002c0005t0002g0006 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.5098+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 47/142 | chr1 | 145367483 | |||||||
| chr1:145367501 | A | G | 3 | a0002c0005t0002g0006 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.5098+263T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 47/142 | chr1 | 145367501 | |||||||
| chr1:145367756 | G | A | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
splice_region_variant&intron_variant | LOW | c.5098+8C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 47/142 | chr1 | 145367756 | |||||||
| chr1:145368677 | G | A | 3 | a0002c0005t0002g0006 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp1 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.4874-81C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 45/142 | chr1 | 145368677 | |||||||
| chr1:145371309 | GAC | G | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.4419-199_4419-198d others(4): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 42/142 | chr1 | 145371309 | |||||||
| chr1:145371339 | C | CACACACA others(15): Show |
1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.4419-228_4419-227i others(24): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 42/142 | chr1 | 145371339 | |||||||
| chr1:145371351 | G | C | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.4419-239C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 42/142 | chr1 | 145371351 | |||||||
| chr1:145372029 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4367-227G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 41/142 | chr1 | 145372029 | |||||||
| chr1:145372121 | G | A | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.4367-319C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 41/142 | chr1 | 145372121 | |||||||
| chr1:145372154 | G | A | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.4367-352C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 41/142 | chr1 | 145372154 | |||||||
| chr1:145372217 | G | C | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.4366+295C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 41/142 | chr1 | 145372217 | |||||||
| chr1:145372231 | G | C | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.4366+281C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 41/142 | chr1 | 145372231 | |||||||
| chr1:145372273 | G | C | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.4366+239C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 41/142 | chr1 | 145372273 | |||||||
| chr1:145372299 | G | C | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.4366+213C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 41/142 | chr1 | 145372299 | |||||||
| chr1:145372380 | C | T | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.4366+132G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 41/142 | chr1 | 145372380 | |||||||
| chr1:145372498 | A | G | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.4366+14T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 41/142 | chr1 | 145372498 | |||||||
| chr1:145372884 | G | A | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.4194-200C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145372884 | |||||||
| chr1:145372919 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4194-235T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145372919 | |||||||
| chr1:145373172 | A | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.4193+121T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373172 | |||||||
| chr1:145373173 | T | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+120A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373173 | |||||||
| chr1:145373177 | G | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+116C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373177 | |||||||
| chr1:145373190 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+103T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373190 | |||||||
| chr1:145373209 | A | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+84T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373209 | |||||||
| chr1:145373212 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+81A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373212 | |||||||
| chr1:145373213 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+80C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373213 | |||||||
| chr1:145373226 | T | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+67A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373226 | |||||||
| chr1:145373235 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+58C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373235 | |||||||
| chr1:145373237 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+56G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373237 | |||||||
| chr1:145373241 | G | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+52C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373241 | |||||||
| chr1:145373242 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+51G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373242 | |||||||
| chr1:145373243 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+50T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373243 | |||||||
| chr1:145373244 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+49A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373244 | |||||||
| chr1:145373255 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+38G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373255 | |||||||
| chr1:145373276 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+17A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373276 | |||||||
| chr1:145373284 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4193+9G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373284 | |||||||
| chr1:145373290 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | splice_region_variant&intron_variant | LOW | c.4193+3A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 40/142 | chr1 | 145373290 | |||||||
| chr1:145373354 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-10C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373354 | |||||||
| chr1:145373373 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-29A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373373 | |||||||
| chr1:145373383 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-39C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373383 | |||||||
| chr1:145373387 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-43A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373387 | |||||||
| chr1:145373431 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-87A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373431 | |||||||
| chr1:145373448 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-104C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373448 | |||||||
| chr1:145373461 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-117A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373461 | |||||||
| chr1:145373469 | A | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.4142-125T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373469 | |||||||
| chr1:145373472 | G | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-128C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373472 | |||||||
| chr1:145373473 | T | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-129A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373473 | |||||||
| chr1:145373474 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-130G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373474 | |||||||
| chr1:145373495 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-151T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373495 | |||||||
| chr1:145373499 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-155G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373499 | |||||||
| chr1:145373500 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-156G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373500 | |||||||
| chr1:145373506 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-162C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373506 | |||||||
| chr1:145373513 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-169A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373513 | |||||||
| chr1:145373521 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-177C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373521 | |||||||
| chr1:145373554 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-210C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373554 | |||||||
| chr1:145373598 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-254A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373598 | |||||||
| chr1:145373599 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-255C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373599 | |||||||
| chr1:145373622 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-278C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373622 | |||||||
| chr1:145373624 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-280A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373624 | |||||||
| chr1:145373636 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-292C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373636 | |||||||
| chr1:145373640 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-296G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373640 | |||||||
| chr1:145373647 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-303C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373647 | |||||||
| chr1:145373650 | G | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-306C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373650 | |||||||
| chr1:145373668 | C | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-324G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373668 | |||||||
| chr1:145373673 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4142-329G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373673 | |||||||
| chr1:145373706 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+358G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373706 | |||||||
| chr1:145373710 | A | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+354T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373710 | |||||||
| chr1:145373712 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+352G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373712 | |||||||
| chr1:145373718 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+346A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373718 | |||||||
| chr1:145373726 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+338C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373726 | |||||||
| chr1:145373743 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+321C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373743 | |||||||
| chr1:145373744 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+320C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373744 | |||||||
| chr1:145373746 | T | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+318A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373746 | |||||||
| chr1:145373766 | A | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+298T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373766 | |||||||
| chr1:145373767 | A | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+297T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373767 | |||||||
| chr1:145373768 | A | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+296T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373768 | |||||||
| chr1:145373774 | A | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+290T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373774 | |||||||
| chr1:145373783 | G | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+281C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373783 | |||||||
| chr1:145373788 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+276C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373788 | |||||||
| chr1:145373790 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+274C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373790 | |||||||
| chr1:145373819 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+245G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373819 | |||||||
| chr1:145373828 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+236T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373828 | |||||||
| chr1:145373829 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+235C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373829 | |||||||
| chr1:145373836 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+228A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373836 | |||||||
| chr1:145373850 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+214G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373850 | |||||||
| chr1:145373874 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+190G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373874 | |||||||
| chr1:145373898 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+166A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373898 | |||||||
| chr1:145373910 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+154T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373910 | |||||||
| chr1:145373913 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+151C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373913 | |||||||
| chr1:145373951 | A | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+113T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373951 | |||||||
| chr1:145373987 | G | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+77C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373987 | |||||||
| chr1:145373997 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+67G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145373997 | |||||||
| chr1:145374000 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+64A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145374000 | |||||||
| chr1:145374012 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+52G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145374012 | |||||||
| chr1:145374013 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+51G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145374013 | |||||||
| chr1:145374016 | A | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+48T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145374016 | |||||||
| chr1:145374017 | C | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+47G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145374017 | |||||||
| chr1:145374018 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+46G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145374018 | |||||||
| chr1:145374019 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4141+45T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 39/142 | chr1 | 145374019 | |||||||
| chr1:145374247 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-11C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374247 | |||||||
| chr1:145374316 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-80C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374316 | |||||||
| chr1:145374324 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-88C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374324 | |||||||
| chr1:145374325 | A | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-89T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374325 | |||||||
| chr1:145374330 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-94C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374330 | |||||||
| chr1:145374364 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-128G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374364 | |||||||
| chr1:145374365 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-129T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374365 | |||||||
| chr1:145374392 | A | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-156T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374392 | |||||||
| chr1:145374410 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-174G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374410 | |||||||
| chr1:145374429 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-193T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374429 | |||||||
| chr1:145374435 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-199T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374435 | |||||||
| chr1:145374439 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-203T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374439 | |||||||
| chr1:145374444 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-208G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374444 | |||||||
| chr1:145374450 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-214G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374450 | |||||||
| chr1:145374458 | GAGACAGA others(12): Show |
G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-241_3969-223d others(21): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374458 | |||||||
| chr1:145374488 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-252G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374488 | |||||||
| chr1:145374493 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-257A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374493 | |||||||
| chr1:145374496 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-260T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374496 | |||||||
| chr1:145374503 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-267T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374503 | |||||||
| chr1:145374511 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-275A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374511 | |||||||
| chr1:145374516 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-280C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374516 | |||||||
| chr1:145374518 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-282T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374518 | |||||||
| chr1:145374520 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-284C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374520 | |||||||
| chr1:145374523 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-287T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374523 | |||||||
| chr1:145374526 | A | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3969-290T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374526 | |||||||
| chr1:145374553 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+312T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374553 | |||||||
| chr1:145374554 | T | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+311A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374554 | |||||||
| chr1:145374565 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+300T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374565 | |||||||
| chr1:145374569 | T | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+296A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374569 | |||||||
| chr1:145374588 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+277T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374588 | |||||||
| chr1:145374597 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+268C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374597 | |||||||
| chr1:145374609 | A | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+256T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374609 | |||||||
| chr1:145374619 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+246T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374619 | |||||||
| chr1:145374624 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+241C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374624 | |||||||
| chr1:145374632 | G | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+233C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374632 | |||||||
| chr1:145374649 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+216A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374649 | |||||||
| chr1:145374655 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+210T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374655 | |||||||
| chr1:145374671 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+194C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374671 | |||||||
| chr1:145374675 | C | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3968+190G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374675 | |||||||
| chr1:145374681 | G | T | 2 | a0004c0006t0003g0002 a0005c0004t0001g0004 |
2 | NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.3968+184C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374681 | |||||||
| chr1:145374746 | A | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.3968+119T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 38/142 | chr1 | 145374746 | |||||||
| chr1:145375451 | G | A | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.3859+237C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 37/142 | chr1 | 145375451 | |||||||
| chr1:145375521 | C | T | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.3859+167G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 37/142 | chr1 | 145375521 | |||||||
| chr1:145376057 | G | GACACAC | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.3687-203_3687-198d others(8): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 36/142 | chr1 | 145376057 | |||||||
| chr1:145376075 | CACACACA others(11): Show |
C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3687-233_3687-216d others(20): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 36/142 | chr1 | 145376075 | |||||||
| chr1:145376107 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3687-247G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 36/142 | chr1 | 145376107 | |||||||
| chr1:145376109 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3687-249G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 36/142 | chr1 | 145376109 | |||||||
| chr1:145376133 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3687-273C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 36/142 | chr1 | 145376133 | |||||||
| chr1:145376783 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3635-227G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 35/142 | chr1 | 145376783 | |||||||
| chr1:145376971 | G | C | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0004c0006t0003g0002 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.3634+295C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 35/142 | chr1 | 145376971 | |||||||
| chr1:145376985 | C | G | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.3634+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 35/142 | chr1 | 145376985 | |||||||
| chr1:145377669 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.3462-231C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377669 | |||||||
| chr1:145377906 | G | A | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.3461+137C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377906 | |||||||
| chr1:145377922 | G | A | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.3461+121C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377922 | |||||||
| chr1:145377922 | G | GACAGTAG others(12737): Show |
1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.3461+120_3461+121i others(12746): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377922 | |||||||
| chr1:145377923 | T | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+120A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377923 | |||||||
| chr1:145377927 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+116C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377927 | |||||||
| chr1:145377940 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+103T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377940 | |||||||
| chr1:145377959 | A | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+84T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377959 | |||||||
| chr1:145377962 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+81A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377962 | |||||||
| chr1:145377963 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+80C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377963 | |||||||
| chr1:145377976 | T | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+67A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377976 | |||||||
| chr1:145377985 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+58C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377985 | |||||||
| chr1:145377987 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+56G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377987 | |||||||
| chr1:145377991 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+52C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377991 | |||||||
| chr1:145377992 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+51G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377992 | |||||||
| chr1:145377993 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+50T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377993 | |||||||
| chr1:145377994 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+49A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145377994 | |||||||
| chr1:145378005 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+38G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145378005 | |||||||
| chr1:145378026 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+17A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145378026 | |||||||
| chr1:145378034 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3461+9G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145378034 | |||||||
| chr1:145378040 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | splice_region_variant&intron_variant | LOW | c.3461+3A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 34/142 | chr1 | 145378040 | |||||||
| chr1:145378104 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-10C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378104 | |||||||
| chr1:145378123 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-29A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378123 | |||||||
| chr1:145378133 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-39C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378133 | |||||||
| chr1:145378137 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-43A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378137 | |||||||
| chr1:145378181 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-87A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378181 | |||||||
| chr1:145378198 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-104C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378198 | |||||||
| chr1:145378211 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-117A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378211 | |||||||
| chr1:145378222 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-128C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378222 | |||||||
| chr1:145378223 | T | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-129A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378223 | |||||||
| chr1:145378224 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-130G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378224 | |||||||
| chr1:145378245 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-151T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378245 | |||||||
| chr1:145378249 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-155G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378249 | |||||||
| chr1:145378250 | G | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.3410-156C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378250 | |||||||
| chr1:145378256 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-162C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378256 | |||||||
| chr1:145378263 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-169A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378263 | |||||||
| chr1:145378271 | G | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-177C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378271 | |||||||
| chr1:145378304 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-210C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378304 | |||||||
| chr1:145378348 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-254A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378348 | |||||||
| chr1:145378349 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-255C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378349 | |||||||
| chr1:145378372 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-278C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378372 | |||||||
| chr1:145378374 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-280A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378374 | |||||||
| chr1:145378386 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-292C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378386 | |||||||
| chr1:145378390 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-296G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378390 | |||||||
| chr1:145378397 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-303C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378397 | |||||||
| chr1:145378400 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-306C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378400 | |||||||
| chr1:145378418 | C | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-324G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378418 | |||||||
| chr1:145378423 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3410-329G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378423 | |||||||
| chr1:145378456 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+358G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378456 | |||||||
| chr1:145378460 | A | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+354T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378460 | |||||||
| chr1:145378462 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+352G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378462 | |||||||
| chr1:145378468 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+346A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378468 | |||||||
| chr1:145378475 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3409+339G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378475 | |||||||
| chr1:145378476 | A | G | 3 | a0003c0002t0001g0003 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.3409+338T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378476 | |||||||
| chr1:145378493 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+321C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378493 | |||||||
| chr1:145378494 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+320C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378494 | |||||||
| chr1:145378496 | T | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+318A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378496 | |||||||
| chr1:145378500 | A | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.3409+314T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378500 | |||||||
| chr1:145378516 | A | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+298T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378516 | |||||||
| chr1:145378517 | A | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+297T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378517 | |||||||
| chr1:145378518 | A | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+296T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378518 | |||||||
| chr1:145378521 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3409+293C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378521 | |||||||
| chr1:145378524 | A | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+290T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378524 | |||||||
| chr1:145378533 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+281C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378533 | |||||||
| chr1:145378538 | G | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+276C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378538 | |||||||
| chr1:145378540 | G | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+274C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378540 | |||||||
| chr1:145378569 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+245G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378569 | |||||||
| chr1:145378578 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+236T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378578 | |||||||
| chr1:145378579 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+235C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378579 | |||||||
| chr1:145378586 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+228A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378586 | |||||||
| chr1:145378600 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+214G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378600 | |||||||
| chr1:145378624 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+190G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378624 | |||||||
| chr1:145378648 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+166A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378648 | |||||||
| chr1:145378660 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+154T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378660 | |||||||
| chr1:145378663 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+151C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378663 | |||||||
| chr1:145378701 | A | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+113T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378701 | |||||||
| chr1:145378737 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+77C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378737 | |||||||
| chr1:145378747 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+67G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378747 | |||||||
| chr1:145378750 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+64A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378750 | |||||||
| chr1:145378762 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+52G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378762 | |||||||
| chr1:145378763 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+51G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378763 | |||||||
| chr1:145378766 | A | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+48T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378766 | |||||||
| chr1:145378767 | C | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+47G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378767 | |||||||
| chr1:145378768 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+46G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378768 | |||||||
| chr1:145378769 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3409+45T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 33/142 | chr1 | 145378769 | |||||||
| chr1:145378997 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-11C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145378997 | |||||||
| chr1:145379066 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-80C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379066 | |||||||
| chr1:145379074 | G | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-88C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379074 | |||||||
| chr1:145379075 | A | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-89T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379075 | |||||||
| chr1:145379080 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-94C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379080 | |||||||
| chr1:145379114 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-128G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379114 | |||||||
| chr1:145379115 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-129T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379115 | |||||||
| chr1:145379142 | A | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-156T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379142 | |||||||
| chr1:145379160 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-174G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379160 | |||||||
| chr1:145379179 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-193T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379179 | |||||||
| chr1:145379185 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-199T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379185 | |||||||
| chr1:145379189 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-203T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379189 | |||||||
| chr1:145379194 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-208G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379194 | |||||||
| chr1:145379200 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-214G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379200 | |||||||
| chr1:145379200 | CAG | C | 2 | a0004c0006t0003g0002 a0005c0004t0001g0004 |
2 | NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.3237-216_3237-215d others(4): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379200 | |||||||
| chr1:145379208 | GAGAGACA others(14): Show |
G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-243_3237-223d others(23): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379208 | |||||||
| chr1:145379240 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-254G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379240 | |||||||
| chr1:145379245 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-259A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379245 | |||||||
| chr1:145379248 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-262T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379248 | |||||||
| chr1:145379255 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-269T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379255 | |||||||
| chr1:145379263 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-277A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379263 | |||||||
| chr1:145379268 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-282C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379268 | |||||||
| chr1:145379270 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-284T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379270 | |||||||
| chr1:145379272 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-286C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379272 | |||||||
| chr1:145379275 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-289T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379275 | |||||||
| chr1:145379278 | A | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3237-292T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379278 | |||||||
| chr1:145379305 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+312T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379305 | |||||||
| chr1:145379306 | T | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+311A>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379306 | |||||||
| chr1:145379317 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+300T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379317 | |||||||
| chr1:145379321 | T | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+296A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379321 | |||||||
| chr1:145379340 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+277T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379340 | |||||||
| chr1:145379349 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+268C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379349 | |||||||
| chr1:145379361 | A | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+256T>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379361 | |||||||
| chr1:145379371 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+246T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379371 | |||||||
| chr1:145379376 | G | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+241C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379376 | |||||||
| chr1:145379384 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+233C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379384 | |||||||
| chr1:145379401 | T | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+216A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379401 | |||||||
| chr1:145379407 | A | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+210T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379407 | |||||||
| chr1:145379423 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+194C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379423 | |||||||
| chr1:145379427 | C | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3236+190G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379427 | |||||||
| chr1:145379433 | G | T | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.3236+184C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 32/142 | chr1 | 145379433 | |||||||
| chr1:145380833 | C | CACACACA others(9): Show |
1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2955-222_2955-221i others(18): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 30/142 | chr1 | 145380833 | |||||||
| chr1:145380833 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.2955-221G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 30/142 | chr1 | 145380833 | |||||||
| chr1:145380845 | G | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2955-233C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 30/142 | chr1 | 145380845 | |||||||
| chr1:145380849 | C | G | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2955-237G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 30/142 | chr1 | 145380849 | |||||||
| chr1:145380857 | C | G | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.2955-245G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 30/142 | chr1 | 145380857 | |||||||
| chr1:145380861 | C | G | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.2955-249G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 30/142 | chr1 | 145380861 | |||||||
| chr1:145380863 | C | CACACACA others(5): Show |
1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.2955-252_2955-251i others(14): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 30/142 | chr1 | 145380863 | |||||||
| chr1:145380885 | G | A | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2955-273C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 30/142 | chr1 | 145380885 | |||||||
| chr1:145381723 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.2902+295G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 29/142 | chr1 | 145381723 | |||||||
| chr1:145381737 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.2902+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 29/142 | chr1 | 145381737 | |||||||
| chr1:145382466 | C | T | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.2730-276G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 28/142 | chr1 | 145382466 | |||||||
| chr1:145382975 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2678-125T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 27/142 | chr1 | 145382975 | |||||||
| chr1:145383006 | C | G | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.2678-156G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 27/142 | chr1 | 145383006 | |||||||
| chr1:145383231 | C | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2677+339G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 27/142 | chr1 | 145383231 | |||||||
| chr1:145383277 | G | C | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2677+293C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 27/142 | chr1 | 145383277 | |||||||
| chr1:145384187 | G | T | 1 | a0002c0005t0002g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2504+184C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 26/142 | chr1 | 145384187 | |||||||
| chr1:145384338 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2504+33G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 26/142 | chr1 | 145384338 | |||||||
| chr1:145385563 | G | GACACACA others(9): Show |
1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.2223-213_2223-198d others(18): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 24/142 | chr1 | 145385563 | |||||||
| chr1:145385615 | C | G | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.2223-249G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 24/142 | chr1 | 145385615 | |||||||
| chr1:145387145 | G | GGAGGGAG others(3): Show |
1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1998-200_1998-199i others(12): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 22/142 | chr1 | 145387145 | |||||||
| chr1:145387173 | G | A | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1998-227C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 22/142 | chr1 | 145387173 | |||||||
| chr1:145387214 | C | T | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1998-268G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 22/142 | chr1 | 145387214 | |||||||
| chr1:145387426 | G | A | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1997+121C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 22/142 | chr1 | 145387426 | |||||||
| chr1:145387723 | G | A | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1946-125C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 21/142 | chr1 | 145387723 | |||||||
| chr1:145387754 | G | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1946-156C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 21/142 | chr1 | 145387754 | |||||||
| chr1:145387979 | C | T | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1945+339G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 21/142 | chr1 | 145387979 | |||||||
| chr1:145388025 | G | C | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1945+293C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 21/142 | chr1 | 145388025 | |||||||
| chr1:145388704 | CAG | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1773-216_1773-215d others(4): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 20/142 | chr1 | 145388704 | |||||||
| chr1:145389088 | G | C | 3 | a0002c0005t0002g0006 a0003c0002t0001g0003 a0005c0004t0001g0004 |
3 | HG01358.hp1 HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1772+33C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 20/142 | chr1 | 145389088 | |||||||
| chr1:145390313 | G | GACACACA others(1): Show |
2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1491-205_1491-198d others(10): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 18/142 | chr1 | 145390313 | |||||||
| chr1:145390371 | C | G | 1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.1491-255G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 18/142 | chr1 | 145390371 | |||||||
| chr1:145391249 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1438+281G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 17/142 | chr1 | 145391249 | |||||||
| chr1:145391516 | A | G | 2 | a0002c0005t0002g0006 a0004c0006t0003g0002 |
2 | HG01358.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.1438+14T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 17/142 | chr1 | 145391516 | |||||||
| chr1:145391736 | G | A | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1266-34C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 16/142 | chr1 | 145391736 | |||||||
| chr1:145391901 | G | GGAGGGAG others(1): Show |
2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1266-200_1266-199i others(10): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 16/142 | chr1 | 145391901 | |||||||
| chr1:145391929 | G | A | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1266-227C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 16/142 | chr1 | 145391929 | |||||||
| chr1:145392182 | G | A | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1265+121C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 16/142 | chr1 | 145392182 | |||||||
| chr1:145392479 | A | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1214-125T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 15/142 | chr1 | 145392479 | |||||||
| chr1:145392510 | C | CATAGAGA others(23827): Show |
1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.1214-157_1214-156i others(23836): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 15/142 | chr1 | 145392510 | |||||||
| chr1:145392510 | C | G | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1214-156G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 15/142 | chr1 | 145392510 | |||||||
| chr1:145392716 | T | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1213+358A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 15/142 | chr1 | 145392716 | |||||||
| chr1:145392826 | G | C | 3 | a0003c0002t0001g0003 a0004c0006t0003g0002 a0005c0004t0001g0004 |
3 | HG01358.hp2 NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.1213+248C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 15/142 | chr1 | 145392826 | |||||||
| chr1:145392852 | A | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.1213+222T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 15/142 | chr1 | 145392852 | |||||||
| chr1:145395326 | G | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.825-185C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 12/142 | chr1 | 145395326 | |||||||
| chr1:145396754 | GTA | G | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.825-1615_825-1614d others(4): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 12/142 | chr1 | 145396754 | |||||||
| chr1:145397749 | G | C | 2 | a0003c0002t0001g0003 a0005c0004t0001g0004 |
2 | HG01358.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.824+1300C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 12/142 | chr1 | 145397749 | |||||||
| chr1:145399776 | C | CA | 2 | a0004c0006t0003g0002 a0005c0004t0001g0004 |
2 | NA19085.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.772+612dupT | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 11/142 | chr1 | 145399776 | |||||||
| chr1:145402744 | C | T | 1 | a0003c0002t0001g0003 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.279-363G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 8/142 | chr1 | 145402744 | |||||||
| chr1:145403376 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-58A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403376 | |||||||
| chr1:145403506 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-188C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403506 | |||||||
| chr1:145403523 | C | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-205G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403523 | |||||||
| chr1:145403533 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-215T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403533 | |||||||
| chr1:145403535 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-217T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403535 | |||||||
| chr1:145403573 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-255A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403573 | |||||||
| chr1:145403584 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-266A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403584 | |||||||
| chr1:145403591 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-273A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403591 | |||||||
| chr1:145403594 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-276C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403594 | |||||||
| chr1:145403741 | A | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-423T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403741 | |||||||
| chr1:145403755 | G | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-437C>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403755 | |||||||
| chr1:145403761 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-443C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403761 | |||||||
| chr1:145403764 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-446T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403764 | |||||||
| chr1:145403767 | T | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-449A>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403767 | |||||||
| chr1:145403771 | T | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-453A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403771 | |||||||
| chr1:145403777 | C | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-459G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403777 | |||||||
| chr1:145403781 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-463C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403781 | |||||||
| chr1:145403797 | C | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-479G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403797 | |||||||
| chr1:145403803 | T | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-485A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403803 | |||||||
| chr1:145403808 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-490T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403808 | |||||||
| chr1:145403842 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-524G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403842 | |||||||
| chr1:145403849 | C | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-531G>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403849 | |||||||
| chr1:145403852 | C | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-534G>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403852 | |||||||
| chr1:145403853 | T | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-535A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403853 | |||||||
| chr1:145403882 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-564C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403882 | |||||||
| chr1:145403885 | A | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-567T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403885 | |||||||
| chr1:145403888 | A | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-570T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403888 | |||||||
| chr1:145403889 | A | AGTATGAG others(53): Show |
1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-572_176-571ins others(60): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403889 | |||||||
| chr1:145403912 | G | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-594C>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403912 | |||||||
| chr1:145403931 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-613T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403931 | |||||||
| chr1:145403940 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-622G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403940 | |||||||
| chr1:145403943 | T | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-625A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403943 | |||||||
| chr1:145403944 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-626C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403944 | |||||||
| chr1:145403954 | A | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-636T>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403954 | |||||||
| chr1:145403962 | T | A | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-644A>T | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403962 | |||||||
| chr1:145403975 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-657T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403975 | |||||||
| chr1:145403981 | A | G | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-663T>C | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403981 | |||||||
| chr1:145403982 | G | C | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-664C>G | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403982 | |||||||
| chr1:145403996 | C | CTGCAGCA others(6323): Show |
1 | a0005c0004t0001g0004 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.176-679_176-678ins others(6330): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403996 | |||||||
| chr1:145403996 | C | T | 1 | a0004c0006t0003g0002 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.176-678G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | 145403996 | |||||||
| chr1:145422235 | C | T | 2 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | HG01358.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.-602+1079G>A | NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 3/142 | chr1 | 145422235 |