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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term BRAF:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000157764	BRAF	1	0	182	ENSG00000157764	ENST00000496384	ENSP00000419060	v-raf murine sarcoma viral oncogene homolog B [Source:HGNC Symbol;Acc:1097]	7	140419127	140624564	-1	q34	140419127	140482957	BRAF	BRAF-003	HGNC Symbol	HGNC transcript name	5	37.97	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	673	1097	BRAF		27506

MSeqDR Master Exome Data Set M1: 87 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	7	140424950	G	A	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	NA	-	-	lod=76:432	-	-	-	het	1
2	7	140424968	G	A	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	rs188275729	0.00192	-	lod=76:432	-	-	-	het	2
3	7	140425177	T	C	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	7	140425281	A	-AAG	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	rs145149263	-	-	lod=297:578	-	-	-	het	2
5	7	140425499	G	+A	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	88
6	7	140425499	G	+A	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
7	7	140425499	G	-A	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	rs34603310	-	-	-	-	-	-	het	2
8	7	140425597	C	A	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	7	140425720	G	C	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	rs75839948	0.00632	-	-	-	-	-	het	6
10	7	140425955	T	C	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	NA	-	-	lod=275:569	-	-	-	het	1
11	7	140426122	A	-TTCTTTCCTCTTTTGTT	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	NA	-	-	lod=386:606	-	-	-	het	2
12	7	140426170	G	A	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	rs76749791	0.00362	-	lod=850:690	-	-	-	het	1
13	7	140426191	T	A	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	rs116336234	0.0184	-	lod=850:690	-	-	-	het	10
14	7	140426257	A	G	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	rs3829814	0.48367	-	lod=850:690	-	-	-	hom	218
15	7	140426257	A	G	ENST00000496384	ENSG00000157764	140419127	140624564	ENSP00000419060	BRAF	-1	-	-	-	3'_UTR	rs3829814	0.48367	-	lod=850:690	-	-	-	het	425
16	7	140434394	G	A	ENST00000288602	ENSG00000157764	140419127	140624564	ENSP00000288602	BRAF	-1	BRAF_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	7	140434394	G	A	ENST00000479537	ENSG00000157764	140419127	140624564	ENSP00000418033	BRAF	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	7	140434574	C	-A	ENST00000288602	ENSG00000157764	140419127	140624564	ENSP00000288602	BRAF	-1	BRAF_HUMAN	-	-	-4bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
19	7	140434574	C	+A	ENST00000288602	ENSG00000157764	140419127	140624564	ENSP00000288602	BRAF	-1	BRAF_HUMAN	-	-	-4bp 3'_splice_site	NA	-	-	-	-	-	-	het	5
20	7	140434574	C	-A	ENST00000479537	ENSG00000157764	140419127	140624564	ENSP00000418033	BRAF	-1	-	-	-	-4bp 3'_splice_site	NA	-	-	-	-	-	-	het	1

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding BRAF 7:140419127..140624564 region Gbrowse