#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	76	0	0	0	1	0	5	76				
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(211-213)Cag>Gag		runt-related transcription factor 2							6.0	10.0	9.0					6																	45390482		1279	2789	4068	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390482C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu					RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E	p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	569	+			71			Poly-Gln.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.211C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	18	0	0	0	1	0	4	18				
C3	718	broad.mit.edu	37	19	6677968	6677968	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:6677968G>A	ENST00000245907.6	-	41	5009	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1639	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGTTCTCTTCGTCTTGGCATT	0.597																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4915-4917)gaC>gaT		complement component 3							153.0	118.0	130.0					19																	6677968		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6677968G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4917C>T	19.37:g.6677968G>A						C3_ENST00000599668.1_5'UTR	p.D1639D	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	41	5009	-			1639			NTR.		A7E236	Silent	SNP	ENST00000245907.6	37	c.4917C>T	CCDS32883.1																																																																																				0.597	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		32	51	0	0	0	1	0	32	51				
BCLAF1	9774	broad.mit.edu	37	6	136596694	136596694	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr6:136596694C>A	ENST00000531224.1	-	6	2080	c.1828G>T	c.(1828-1830)Gtg>Ttg	p.V610L	BCLAF1_ENST00000530767.1_Missense_Mutation_p.V437L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V610L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V608L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V608L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.V608L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	610					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACCAAGGACACAATGTGTTGA	0.353																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1828-1830)Gtg>Ttg		BCL2-associated transcription factor 1							201.0	182.0	188.0					6																	136596694		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136596694C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1828G>T	6.37:g.136596694C>A	ENSP00000435210:p.Val610Leu					BCLAF1_ENST00000530767.1_Missense_Mutation_p.V437L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V608L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V610L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.V608L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V608L	p.V610L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	6	2080	-	Colorectal(23;0.24)		610					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1828G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312678	0.81358	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000025	T	0.44371	0.1290	M	0.64997	1.995	0.80722	D	1	D;D;D;P	0.71674	0.985;0.998;0.985;0.902	D;D;D;P	0.81914	0.973;0.995;0.973;0.893	T	0.34576	-0.9823	10	0.72032	D	0.01	-4.4985	19.7788	0.96409	0.0:1.0:0.0:0.0	.	608;608;610;437	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	610;608;610;437;608;608;610	ENSP00000435210:V610L;ENSP00000229446:V608L;ENSP00000435441:V610L;ENSP00000436501:V437L;ENSP00000434826:V608L;ENSP00000376159:V608L;ENSP00000431734:V610L	ENSP00000229446:V608L	V	-	1	0	BCLAF1	136638387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.641000	0.74324	2.749000	0.94314	0.460000	0.39030	GTG		0.353	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		14	123	1	0	5.35267e-07	1	5.42701e-07	14	123				
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAACACGCACCTCAAAGCTG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920676	TP53	M	rs121912657	c.(814-816)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							62.0	54.0	57.0					17																	7577124		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577124C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000269305.4_Missense_Mutation_p.V272M	p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	946	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	272		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.814G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	2	0	0	0	1	0	30	2				
TPST1	8460	broad.mit.edu	37	7	65705883	65705883	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:65705883T>A	ENST00000304842.5	+	2	896	c.471T>A	c.(469-471)tgT>tgA	p.C157*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	157					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTTATTTATGTAATAAAGATC	0.443																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(469-471)tgT>tgA		tyrosylprotein sulfotransferase 1							59.0	59.0	59.0					7																	65705883		2203	4300	6503	SO:0001587	stop_gained	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705883T>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.471T>A	7.37:g.65705883T>A	ENSP00000302413:p.Cys157*					TPST1_ENST00000480281.1_Intron	p.C157*	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			2	896	+			157					A4D2M0|Q6FGM7	Nonsense_Mutation	SNP	ENST00000304842.5	37	c.471T>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	T	37	6.055387	0.97241	.	.	ENSG00000169902	ENST00000304842;ENST00000544114	.	.	.	5.75	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6812	8.9677	0.35887	0.0:0.2123:0.0:0.7877	.	.	.	.	X	157	.	ENSP00000302413:C157X	C	+	3	2	TPST1	65343318	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.427000	0.34881	0.996000	0.38943	0.477000	0.44152	TGT		0.443	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		46	35	0	0	0	1	0	46	35				
NLRP5	126206	broad.mit.edu	37	19	56552352	56552352	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:56552352C>T	ENST00000390649.3	+	11	2851	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTCAGCAACCGGAGCTTGAC	0.562																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2851-2853)Cgg>Tgg		NLR family, pyrin domain containing 5							114.0	113.0	113.0					19																	56552352		2037	4215	6252	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552352C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2851C>T	19.37:g.56552352C>T	ENSP00000375063:p.Arg951Trp						p.R951W	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2851	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	951					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2851C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566238	0.45694	.	.	ENSG00000171487	ENST00000390649	T	0.64085	-0.08	4.37	2.15	0.27550	.	1.165660	0.06891	N	0.804302	T	0.66925	0.2839	L	0.51914	1.62	0.09310	N	1	D	0.71674	0.998	P	0.55871	0.786	T	0.52041	-0.8628	10	0.87932	D	0	.	5.5434	0.17051	0.1971:0.6962:0.0:0.1067	.	951	P59047	NALP5_HUMAN	W	951	ENSP00000375063:R951W	ENSP00000375063:R951W	R	+	1	2	NLRP5	61244164	0.001000	0.12720	0.006000	0.13384	0.052000	0.14988	0.517000	0.22832	0.518000	0.28383	0.655000	0.94253	CGG		0.562	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		46	17	0	0	0	1	0	46	17				
KCNN2	3781	broad.mit.edu	37	5	113698614	113698614	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr5:113698614T>C	ENST00000512097.3	+	2	1160	c.142T>C	c.(142-144)Tcc>Ccc	p.S48P	KCNN2_ENST00000264773.3_Missense_Mutation_p.S48P			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	48					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CGGCGCGTCCTCCCCGTCTGC	0.692																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(142-144)Tcc>Ccc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							8.0	9.0	9.0					5																	113698614		2148	4212	6360	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698614T>C	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.142T>C	5.37:g.113698614T>C	ENSP00000427120:p.Ser48Pro					KCNN2_ENST00000264773.3_Missense_Mutation_p.S48P	p.S48P			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1160	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	48					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.142T>C	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500843	0.44455	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98684	-5.07;-5.07	5.28	3.96	0.45880	.	0.101782	0.38164	N	0.001783	D	0.93726	0.7995	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.88705	0.3218	10	0.27785	T	0.31	.	3.9411	0.09328	0.0:0.2327:0.0:0.7673	.	48	Q9H2S1	KCNN2_HUMAN	P	48	ENSP00000427120:S48P;ENSP00000264773:S48P	ENSP00000264773:S48P	S	+	1	0	KCNN2	113726513	0.538000	0.26394	1.000000	0.80357	0.946000	0.59487	-0.231000	0.09069	2.121000	0.65114	0.533000	0.62120	TCC		0.692	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		3	15	0	0	0	1	0	3	15				
MAPK15	225689	broad.mit.edu	37	8	144802971	144802971	+	Nonsense_Mutation	SNP	T	T	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr8:144802971T>G	ENST00000338033.4	+	9	997	c.878T>G	c.(877-879)tTa>tGa	p.L293*	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GACAAGCGGTTAAGCGCGACC	0.672																																						ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(877-879)tTa>tGa		mitogen-activated protein kinase 15							37.0	46.0	43.0					8																	144802971		2093	4194	6287	SO:0001587	stop_gained	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144802971T>G	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.878T>G	8.37:g.144802971T>G	ENSP00000337691:p.Leu293*						p.L293*	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		9	997	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		293			Protein kinase.		Q2TCF9|Q8N362	Nonsense_Mutation	SNP	ENST00000338033.4	37	c.878T>G	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	t	20.4	3.982240	0.74474	.	.	ENSG00000181085	ENST00000338033	.	.	.	3.54	3.54	0.40534	.	0.000000	0.64402	U	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.583	9.9287	0.41507	0.0:0.0:0.0:1.0	.	.	.	.	X	293	.	ENSP00000337691:L293X	L	+	2	0	MAPK15	144874959	1.000000	0.71417	0.498000	0.27564	0.029000	0.11900	4.739000	0.62080	1.456000	0.47831	0.383000	0.25322	TTA		0.672	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		15	23	0	0	0	1	0	15	23				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	135	0	0	0	1	0	9	135				
MYH6	4624	broad.mit.edu	37	14	23874315	23874315	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr14:23874315A>T	ENST00000356287.3	-	5	553	c.524T>A	c.(523-525)cTc>cAc	p.L175H	MYH6_ENST00000405093.3_Missense_Mutation_p.L175H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	175	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACGTGATGAGGATGGACTG	0.582																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(523-525)cTc>cAc		myosin, heavy chain 6, cardiac muscle, alpha							96.0	89.0	91.0					14																	23874315		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23874315A>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.524T>A	14.37:g.23874315A>T	ENSP00000348634:p.Leu175His					MYH6_ENST00000356287.3_Missense_Mutation_p.L175H	p.L175H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	6	594	-	all_cancers(95;2.54e-05)		175			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.524T>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.417096	0.83449	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90069	-2.61;-2.61	4.29	4.29	0.51040	Myosin head, motor domain (3);	.	.	.	.	D	0.97170	0.9075	H	0.99863	4.86	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98218	1.0476	9	0.87932	D	0	.	13.5788	0.61890	1.0:0.0:0.0:0.0	.	175;175	D9YZU2;P13533	.;MYH6_HUMAN	H	175	ENSP00000386041:L175H;ENSP00000348634:L175H	ENSP00000348634:L175H	L	-	2	0	MYH6	22944155	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.776000	0.91776	1.943000	0.56356	0.444000	0.29173	CTC		0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			4	123	0	0	0	1	0	4	123				
MARCH7	64844	broad.mit.edu	37	2	160605198	160605198	+	Missense_Mutation	SNP	C	C	T	rs557067129		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:160605198C>T	ENST00000259050.4	+	5	1519	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	MARCH7_ENST00000409591.1_Missense_Mutation_p.S428L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S466L|MARCH7_ENST00000539065.1_Missense_Mutation_p.S410L	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	466					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ACATCAGATTCGGCTCAAGGT	0.493																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1396-1398)tCg>tTg		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							149.0	157.0	154.0					2																	160605198		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160605198C>T	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1397C>T	2.37:g.160605198C>T	ENSP00000259050:p.Ser466Leu					MARCH7_ENST00000409591.1_Missense_Mutation_p.S428L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S466L|MARCH7_ENST00000539065.1_Missense_Mutation_p.S410L	p.S466L	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1519	+			466					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.1397C>T	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267689	0.23136	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.59	1.71	0.24356	.	0.563334	0.18904	N	0.127957	T	0.06554	0.0168	N	0.04880	-0.145	0.28636	N	0.9074	B;B;B	0.14012	0.006;0.009;0.003	B;B;B	0.12156	0.007;0.001;0.001	T	0.25433	-1.0132	10	0.39692	T	0.17	-3.8969	10.128	0.42661	0.0:0.6633:0.0:0.3367	.	410;428;466	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	L	466;410;466;428	ENSP00000386830:S466L;ENSP00000442992:S410L;ENSP00000259050:S466L;ENSP00000387238:S428L	ENSP00000259050:S466L	S	+	2	0	MARCH7	160313444	0.920000	0.31207	0.472000	0.27241	0.990000	0.78478	1.741000	0.38238	0.457000	0.26962	0.655000	0.94253	TCG		0.493	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		5	240	0	0	0	1	0	5	240				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	126	0	0	0	1	0	4	126				
FAM193A	8603	broad.mit.edu	37	4	2701539	2701539	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr4:2701539C>T	ENST00000324666.5	+	17	3118	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	FAM193A_ENST00000545951.1_Missense_Mutation_p.R923W|FAM193A_ENST00000505311.1_Missense_Mutation_p.R923W|FAM193A_ENST00000382839.3_Missense_Mutation_p.R923W|FAM193A_ENST00000502458.1_Missense_Mutation_p.R945W	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	923										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGAATTTCAGCGGCTTCAGGA	0.537																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(2767-2769)Cgg>Tgg		family with sequence similarity 193, member A							41.0	43.0	42.0					4																	2701539		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2701539C>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2767C>T	4.37:g.2701539C>T	ENSP00000324587:p.Arg923Trp					FAM193A_ENST00000545951.1_Missense_Mutation_p.R923W|FAM193A_ENST00000505311.1_Missense_Mutation_p.R923W|FAM193A_ENST00000382839.3_Missense_Mutation_p.R923W|FAM193A_ENST00000502458.1_Missense_Mutation_p.R945W	p.R923W	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			17	3118	+			923					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2767C>T	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032639	0.75504	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.37752	1.19;1.59;1.18;1.18;1.18	5.58	2.55	0.30701	.	0.057904	0.64402	D	0.000001	T	0.45034	0.1322	L	0.32530	0.975	0.47476	D	0.999434	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.67231	0.95;0.95;0.95;0.95;0.95	T	0.42682	-0.9437	10	0.87932	D	0	-20.3267	12.0959	0.53755	0.2484:0.6427:0.1089:0.0	.	923;945;923;945;923	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	W	923;923;923;945;777	ENSP00000372290:R923W;ENSP00000324587:R923W;ENSP00000443617:R923W;ENSP00000427505:R945W;ENSP00000427260:R777W	ENSP00000324587:R923W	R	+	1	2	FAM193A	2671337	1.000000	0.71417	0.969000	0.41365	0.966000	0.64601	2.824000	0.48088	0.699000	0.31761	0.650000	0.86243	CGG		0.537	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		4	52	0	0	0	1	0	4	52				
FZD1	8321	broad.mit.edu	37	7	90895601	90895601	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:90895601A>G	ENST00000287934.2	+	1	1819	c.1406A>G	c.(1405-1407)gAc>gGc	p.D469G		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	469					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCCAGGTGGACGGCGATGTG	0.632																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1405-1407)gAc>gGc		frizzled family receptor 1							141.0	126.0	131.0					7																	90895601		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895601A>G	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1406A>G	7.37:g.90895601A>G	ENSP00000287934:p.Asp469Gly						p.D469G	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1819	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		469					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1406A>G	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.908613	0.72868	.	.	ENSG00000157240	ENST00000287934	D	0.85013	-1.93	4.52	4.52	0.55395	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.92678	0.7673	M	0.88181	2.935	0.80722	D	1	D	0.64830	0.994	D	0.66979	0.948	D	0.94063	0.7328	10	0.87932	D	0	.	14.0113	0.64498	1.0:0.0:0.0:0.0	.	469	Q9UP38	FZD1_HUMAN	G	469	ENSP00000287934:D469G	ENSP00000287934:D469G	D	+	2	0	FZD1	90733537	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.134000	0.94467	1.906000	0.55180	0.379000	0.24179	GAC		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		69	109	0	0	0	1	0	69	109				
GPR52	9293	broad.mit.edu	37	1	174417494	174417494	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:174417494C>T	ENST00000367685.2	+	1	283	c.245C>T	c.(244-246)aCg>aTg	p.T82M	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	82					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTCATTCAGACGATGGCATAT	0.428																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(244-246)aCg>aTg		G protein-coupled receptor 52							264.0	245.0	251.0					1																	174417494		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417494C>T	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.245C>T	1.37:g.174417494C>T	ENSP00000356658:p.Thr82Met					RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron	p.T82M	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN			1	283	+			82					O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.245C>T	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667777	0.67814	.	.	ENSG00000203737	ENST00000367685	T	0.36878	1.23	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.56863	0.2014	L	0.47716	1.5	0.47584	D	0.999462	D	0.89917	1.0	D	0.83275	0.996	T	0.56992	-0.7887	10	0.87932	D	0	-6.0669	19.7962	0.96484	0.0:1.0:0.0:0.0	.	82	Q9Y2T5	GPR52_HUMAN	M	82	ENSP00000356658:T82M	ENSP00000356658:T82M	T	+	2	0	GPR52	172684117	1.000000	0.71417	0.966000	0.40874	0.997000	0.91878	7.416000	0.80143	2.675000	0.91044	0.650000	0.86243	ACG		0.428	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		5	242	0	0	0	1	0	5	242				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	149	0	0	0	1	0	8	149				
DCAF12L2	340578	broad.mit.edu	37	X	125298550	125298550	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:125298550C>T	ENST00000360028.2	-	1	1384	c.1358G>A	c.(1357-1359)gGc>gAc	p.G453D	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G453D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	453										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCCATGGAGGCCTGAAGGGAG	0.547																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1357-1359)gGc>gAc		DDB1 and CUL4 associated factor 12-like 2							63.0	66.0	65.0					X																	125298550		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298550C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1358G>A	X.37:g.125298550C>T	ENSP00000353128:p.Gly453Asp					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G453D	p.G453D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1438	-			453					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1358G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899363	0.52227	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.19394	2.15;2.15	3.93	3.93	0.45458	.	0.000000	0.36972	N	0.002301	T	0.18215	0.0437	L	0.52573	1.65	0.47341	D	0.999396	P	0.35077	0.483	B	0.27887	0.084	T	0.05419	-1.0886	10	0.44086	T	0.13	.	12.9304	0.58284	0.0:1.0:0.0:0.0	.	453	Q5VW00	DC122_HUMAN	D	453	ENSP00000441489:G453D;ENSP00000353128:G453D	ENSP00000353128:G453D	G	-	2	0	DCAF12L2	125126231	1.000000	0.71417	0.985000	0.45067	0.959000	0.62525	6.814000	0.75236	2.209000	0.71365	0.600000	0.82982	GGC		0.547	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		57	71	0	0	0	1	0	57	71				
FRG1B	284802	broad.mit.edu	37	20	29633901	29633901	+	Silent	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29633901A>G	ENST00000278882.3	+	9	920	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FRG1B_ENST00000358464.4_Silent_p.E180E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAACAAGAGAACCAAATTGAA	0.269																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gaA>gaG																																						SO:0001819	synonymous_variant	0							g.chr20:29633901A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.540A>G	20.37:g.29633901A>G						FRG1B_ENST00000358464.4_Silent_p.E180E	p.E180E							9	920	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.540A>G																																																																																					0.269	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	182	0	0	0	1	0	4	182				
RBL1	5933	broad.mit.edu	37	20	35672586	35672586	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:35672586A>G	ENST00000373664.3	-	13	1739	c.1673T>C	c.(1672-1674)aTt>aCt	p.I558T	RBL1_ENST00000344359.3_Missense_Mutation_p.I558T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	558	Domain A.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTGTTCTTCAATGCTGTTTAG	0.478																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1672-1674)aTt>aCt		retinoblastoma-like 1 (p107)							123.0	116.0	118.0					20																	35672586		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35672586A>G	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1673T>C	20.37:g.35672586A>G	ENSP00000362768:p.Ile558Thr					RBL1_ENST00000344359.3_Missense_Mutation_p.I558T	p.I558T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			13	1739	-		Myeloproliferative disorder(115;0.00878)	558			Domain A.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.1673T>C	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329721	0.81690	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.89746	-2.56;-2.56	4.75	4.75	0.60458	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.050920	0.85682	D	0.000000	D	0.91074	0.7191	M	0.74546	2.27	0.80722	D	1	P;B	0.48911	0.917;0.314	P;P	0.49683	0.619;0.514	D	0.92181	0.5751	10	0.66056	D	0.02	-36.7516	14.4049	0.67075	1.0:0.0:0.0:0.0	.	558;558	P28749-2;P28749	.;RBL1_HUMAN	T	558	ENSP00000362768:I558T;ENSP00000343646:I558T	ENSP00000343646:I558T	I	-	2	0	RBL1	35106000	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	7.182000	0.77689	1.984000	0.57885	0.443000	0.29094	ATT		0.478	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		33	67	0	0	0	1	0	33	67				
SLAMF9	89886	broad.mit.edu	37	1	159922090	159922090	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:159922090A>G	ENST00000368093.3	-	3	742	c.626T>C	c.(625-627)gTc>gCc	p.V209A	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	209	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAAGAACTGACGTTGCTGAT	0.567																																						ENST00000368093.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(625-627)gTc>gCc		SLAM family member 9							125.0	119.0	121.0					1																	159922090		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159922090A>G	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.626T>C	1.37:g.159922090A>G	ENSP00000357072:p.Val209Ala					SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	p.V209A	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	742	-	all_hematologic(112;0.093)		209			Ig-like C2-type.		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.626T>C	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	A	1.740	-0.491838	0.04322	.	.	ENSG00000162723	ENST00000368093	T	0.19669	2.13	4.47	2.12	0.27331	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.774840	0.02505	N	0.090880	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31724	-0.9933	9	.	.	.	-14.9675	6.1065	0.20077	0.7921:0.0:0.2079:0.0	.	209	Q96A28	SLAF9_HUMAN	A	209	ENSP00000357072:V209A	.	V	-	2	0	SLAMF9	158188714	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.415000	0.07106	0.248000	0.21435	-0.297000	0.09499	GTC		0.567	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		41	58	0	0	0	1	0	41	58				
JAK3	3718	broad.mit.edu	37	19	17954587	17954587	+	Splice_Site	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:17954587G>A	ENST00000527670.1	-	2	336	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Splice_Site_p.R103C|JAK3_ENST00000458235.1_Splice_Site_p.R103C			P52333	JAK3_HUMAN	Janus kinase 3	103	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.			R -> RS (in Ref. 3; AAC50950). {ECO:0000305}.	B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	ACTTCCTACCGAATCCTGTAC	0.592		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.e3+1		Janus kinase 3							58.0	62.0	61.0					19																	17954587		2203	4299	6502	SO:0001630	splice_region_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17954587G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.308+1C>T	19.37:g.17954587G>A						JAK3_ENST00000527670.1_Splice_Site_p.R103_splice|JAK3_ENST00000534444.1_Splice_Site_p.R103_splice|JAK3_ENST00000526008.1_5'UTR	p.R103_splice	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			3	406	-			103	R -> RS (in Ref. 3; AAC50950).		FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Splice_Site	SNP	ENST00000527670.1	37	c.308_splice	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010937	0.54361	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.74737	-0.87;-0.87;-0.87	5.08	3.97	0.46021	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86355	0.1713	10	0.87932	D	0	-31.8132	10.0457	0.42186	0.0:0.0:0.6761:0.3239	.	103;103;103	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	C	103	ENSP00000391676:R103C;ENSP00000432511:R103C;ENSP00000436421:R103C	ENSP00000413248:R103C	R	-	1	0	JAK3	17815587	0.999000	0.42202	0.997000	0.53966	0.222000	0.24845	1.603000	0.36794	2.367000	0.80283	0.585000	0.79938	CGC		0.592	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	Missense_Mutation	20	47	0	0	0	1	0	20	47				
COX10-AS1	100874058	broad.mit.edu	37	17	13927814	13927814	+	RNA	SNP	A	A	T	rs141406384		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:13927814A>T	ENST00000602743.1	-	0	224									COX10 antisense RNA 1																		TTGGTGGGAGACGCTCAAGAG	0.512																																						ENST00000602743.1																			0																																																			0							g.chr17:13927814A>T			17p12	2013-05-22	2012-08-15	2010-11-25	ENSG00000236088	ENSG00000236088		"""Long non-coding RNAs"""	38873	non-coding RNA	RNA, long non-coding			"""COX10 antisense RNA (non-protein coding)"", ""COX10 antisense RNA 1 (non-protein coding)"""	COX10AS, COX10-AS			Standard	NR_049718		Approved		uc002goe.1		OTTHUMG00000058771		17.37:g.13927814A>T														0	224	-									RNA	SNP	ENST00000602743.1	37																																																																																						0.512	COX10-AS1-005	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000467585.1			3	0	0	0	0	1	0	3	0				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	139	0	0	0	1	0	5	139				
GALNT5	11227	broad.mit.edu	37	2	158115046	158115046	+	Missense_Mutation	SNP	C	C	A	rs371955379		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:158115046C>A	ENST00000259056.4	+	1	937	c.452C>A	c.(451-453)cCt>cAt	p.P151H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	151					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGCACCAAACCTGAAGCCTCC	0.542																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(451-453)cCt>cAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)		C	HIS/PRO	0,4406		0,0,2203	67.0	69.0	68.0		452	0.7	0.0	2		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT5	NM_014568.1	77	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	151/941	158115046	1,13005	2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115046C>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.452C>A	2.37:g.158115046C>A	ENSP00000259056:p.Pro151His						p.P151H	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			1	937	+			151					A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.452C>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863891	0.32884	0.0	1.16E-4	ENSG00000136542	ENST00000259056	T	0.57752	0.38	5.51	0.717	0.18196	.	2.226600	0.01528	N	0.018657	T	0.41488	0.1161	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33471	-0.9867	10	0.87932	D	0	.	2.567	0.04785	0.5094:0.2436:0.139:0.1081	.	151	Q7Z7M9	GALT5_HUMAN	H	151	ENSP00000259056:P151H	ENSP00000259056:P151H	P	+	2	0	GALNT5	157823292	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.171000	0.16685	0.280000	0.22209	0.655000	0.94253	CCT		0.542	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		11	38	1	0	0.00316338	1	0.00316338	11	38				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			7	336	0	0	0	1	0	7	336				
OR6Y1	391112	broad.mit.edu	37	1	158517240	158517240	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:158517240A>G	ENST00000302617.3	-	1	655	c.656T>C	c.(655-657)gTg>gCg	p.V219A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATGCCACCACAACACAAAG	0.552																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(655-657)gTg>gCg		olfactory receptor, family 6, subfamily Y, member 1							110.0	103.0	105.0					1																	158517240		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517240A>G	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.656T>C	1.37:g.158517240A>G	ENSP00000304807:p.Val219Ala						p.V219A	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	655	-	all_hematologic(112;0.0378)		219					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.656T>C	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.139825	0.37728	.	.	ENSG00000197532	ENST00000302617	T	0.00198	8.57	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001851	T	0.00210	0.0006	M	0.62266	1.93	0.21527	N	0.99965	D	0.89917	1.0	D	0.91635	0.999	T	0.30060	-0.9991	10	0.87932	D	0	.	8.7552	0.34641	0.914:0.0:0.086:0.0	.	219	Q8NGX8	OR6Y1_HUMAN	A	219	ENSP00000304807:V219A	ENSP00000304807:V219A	V	-	2	0	OR6Y1	156783864	0.679000	0.27596	0.585000	0.28666	0.215000	0.24574	4.012000	0.57131	2.230000	0.72887	0.533000	0.62120	GTG		0.552	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		23	48	0	0	0	1	0	23	48				
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	85								p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.N85D(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(253-255)Aat>Gat																																						SO:0001583	missense	0							g.chr20:29628251A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.253A>G	20.37:g.29628251A>G	ENSP00000278882:p.Asn85Asp					FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D	p.N85D							6	633	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.253A>G		.	.	.	.	.	.	.	.	.	.	a	15.78	2.933773	0.52866	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	.	.	.	0.45390	D	0.998378	B;B	0.26809	0.086;0.16	B;B	0.40329	0.326;0.253	T	0.51553	-0.8691	9	0.66056	D	0.02	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	90;85	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	D	85;90;85	ENSP00000408863:N90D	ENSP00000278882:N85D	N	+	1	0	FRG1B	28241912	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	8.047000	0.89440	1.208000	0.43306	0.347000	0.21830	AAT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	155	0	0	0	1	0	6	155				
CSF2RA	1438	broad.mit.edu	37	X	1407750	1407750	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:1407750G>A	ENST00000381524.3	+	6	628	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	CSF2RA_ENST00000417535.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V148I|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V148I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V15I			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	148					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCCCGTGACGTCCAGTATTT	0.468													g|||	1	0.000199681	0.0	0.0	5008	,	,		16184	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(442-444)Gtc>Atc		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						99.0	109.0	106.0					X																	1407750		2203	4295	6498	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407750G>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.442G>A	X.37:g.1407750G>A	ENSP00000370935:p.Val148Ile					CSF2RA_ENST00000381529.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V148I|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V15I|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V148I	p.V148I			P15509	CSF2R_HUMAN			6	628	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	148					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.442G>A	CCDS35191.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	12.40	1.926674	0.34002	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;T;D;D;T;T;D;T;T;D;T	0.95949	-3.86;-3.86;0.33;-1.8;-3.86;0.33;0.33;-3.86;0.33;0.33;-3.86;0.33	2.02	2.02	0.26589	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.412764	0.16516	U	0.211018	D	0.93910	0.8051	.	.	.	0.09310	N	1	D;D;D;D;P;D	0.61697	0.977;0.961;0.99;0.975;0.939;0.978	B;P;P;B;B;B	0.50791	0.369;0.65;0.596;0.236;0.314;0.442	D	0.87170	0.2220	9	0.45353	T	0.12	.	7.2219	0.25992	0.0:0.0:1.0:0.0	.	148;148;148;148;148;148	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	I	148;148;148;148;15;148;148;148;148;148;148;148;148	ENSP00000370940:V148I;ENSP00000416437:V148I;ENSP00000354836:V148I;ENSP00000440491:V15I;ENSP00000370935:V148I;ENSP00000410667:V148I;ENSP00000397452:V148I;ENSP00000370920:V148I;ENSP00000348058:V148I;ENSP00000347606:V148I;ENSP00000394227:V148I;ENSP00000370911:V148I	ENSP00000347606:V148I	V	+	1	0	CSF2RA	1367750	0.683000	0.27633	0.019000	0.16419	0.126000	0.20510	0.804000	0.27098	1.072000	0.40860	0.280000	0.19369	GTC		0.468	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			68	70	0	0	0	1	0	68	70				
FFAR2	2867	broad.mit.edu	37	19	35941457	35941457	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:35941457C>T	ENST00000599180.2	+	2	921	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R281C			O15552	FFAR2_HUMAN	free fatty acid receptor 2	281					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCAGTGGTGCGCAGGGCATT	0.577																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(841-843)Cgc>Tgc		free fatty acid receptor 2							97.0	95.0	95.0					19																	35941457		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941457C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.841C>T	19.37:g.35941457C>T	ENSP00000473159:p.Arg281Cys					FFAR2_ENST00000246549.2_Missense_Mutation_p.R281C|FFAR2_ENST00000601590.1_Intron	p.R281C			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	921	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		281					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.841C>T	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279436	0.59758	.	.	ENSG00000126262	ENST00000246549	T	0.58358	0.34	5.38	5.38	0.77491	.	0.233264	0.38492	N	0.001669	T	0.68026	0.2956	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	P	0.61275	0.886	T	0.70710	-0.4797	10	0.87932	D	0	-33.7615	16.9904	0.86352	0.0:1.0:0.0:0.0	.	281	O15552	FFAR2_HUMAN	C	281	ENSP00000246549:R281C	ENSP00000246549:R281C	R	+	1	0	FFAR2	40633297	1.000000	0.71417	0.997000	0.53966	0.065000	0.16274	3.003000	0.49505	2.677000	0.91161	0.563000	0.77884	CGC		0.577	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		214	83	0	0	0	1	0	214	83				
MUC17	140453	broad.mit.edu	37	7	100677440	100677440	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:100677440C>T	ENST00000306151.4	+	3	2807	c.2743C>T	c.(2743-2745)Cca>Tca	p.P915S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	915	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2743-2745)Cca>Tca		mucin 17, cell surface associated							348.0	318.0	328.0					7																	100677440		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677440C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2743C>T	7.37:g.100677440C>T	ENSP00000302716:p.Pro915Ser						p.P915S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2807	+	Lung NSC(181;0.136)|all_lung(186;0.182)		915			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2743C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.676	-0.507634	0.04231	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.512	0.512	0.16994	.	.	.	.	.	T	0.01222	0.0040	N	0.04880	-0.145	0.09310	N	1	P	0.41232	0.743	B	0.28849	0.095	T	0.31447	-0.9943	9	0.02654	T	1	.	6.9006	0.24281	0.0:0.9998:0.0:2.0E-4	.	915	Q685J3	MUC17_HUMAN	S	915	ENSP00000302716:P915S	ENSP00000302716:P915S	P	+	1	0	MUC17	100464160	0.000000	0.05858	0.013000	0.15412	0.014000	0.08584	-1.391000	0.02525	0.551000	0.29008	0.134000	0.15878	CCA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	635	0	0	0	1	0	7	635				
LTB4R	1241	broad.mit.edu	37	14	24785430	24785430	+	Silent	SNP	G	G	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr14:24785430G>T	ENST00000396789.4	+	2	2298	c.573G>T	c.(571-573)ctG>ctT	p.L191L	LTB4R_ENST00000396782.2_Silent_p.L191L|LTB4R_ENST00000345363.3_Silent_p.L191L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	191					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CGGGCTTCCTGCTGCCCTTCC	0.672																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(571-573)ctG>ctT		leukotriene B4 receptor							44.0	46.0	45.0					14																	24785430		2203	4300	6503	SO:0001819	synonymous_variant	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785430G>T	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.573G>T	14.37:g.24785430G>T						LTB4R_ENST00000345363.3_Silent_p.L191L|LTB4R_ENST00000396782.2_Silent_p.L191L	p.L191L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	2298	+			191					Q13305|Q53XV5|Q92641|Q9BSU5	Silent	SNP	ENST00000396789.4	37	c.573G>T	CCDS9626.1																																																																																				0.672	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			86	48	1	0	2.56433e-40	1	2.63656e-40	86	48				
CHGB	1114	broad.mit.edu	37	20	5905691	5905691	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:5905691G>A	ENST00000378961.4	+	5	2234	c.2030G>A	c.(2029-2031)gGc>gAc	p.G677D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	677						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCCAAAGGGGCTGACTGTCA	0.438																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(2029-2031)gGc>gAc		chromogranin B (secretogranin 1)							77.0	75.0	75.0					20																	5905691		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5905691G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.2030G>A	20.37:g.5905691G>A	ENSP00000368244:p.Gly677Asp						p.G677D	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			5	2234	+			677					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.2030G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215903	0.58452	.	.	ENSG00000089199	ENST00000378961	T	0.03004	4.08	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000006	T	0.19765	0.0475	M	0.70275	2.135	0.43683	D	0.996127	D	0.89917	1.0	D	0.97110	1.0	T	0.00014	-1.2410	10	0.87932	D	0	.	20.1782	0.98191	0.0:0.0:1.0:0.0	.	677	P05060	SCG1_HUMAN	D	677	ENSP00000368244:G677D	ENSP00000368244:G677D	G	+	2	0	CHGB	5853691	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	6.610000	0.74178	2.843000	0.97960	0.655000	0.94253	GGC		0.438	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		22	22	0	0	0	1	0	22	22				
RBM10	8241	broad.mit.edu	37	X	47044862	47044862	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:47044862G>A	ENST00000377604.3	+	20	2930	c.2188G>A	c.(2188-2190)Gca>Aca	p.A730T	RBM10_ENST00000345781.6_Missense_Mutation_p.A653T|RBM10_ENST00000329236.7_Missense_Mutation_p.A652T	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	730					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGACTGGTGGCAGCCTACAG	0.682																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(2188-2190)Gca>Aca		RNA binding motif protein 10							18.0	14.0	15.0					X																	47044862		2127	4172	6299	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47044862G>A	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2188G>A	X.37:g.47044862G>A	ENSP00000366829:p.Ala730Thr					RBM10_ENST00000329236.7_Missense_Mutation_p.A652T|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Missense_Mutation_p.A653T	p.A730T	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			20	2930	+			730					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.2188G>A	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551382	0.86127	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20881	2.71;2.04;2.3	5.63	5.63	0.86233	.	0.203295	0.43579	D	0.000557	T	0.45875	0.1364	M	0.68317	2.08	0.44547	D	0.997506	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;0.992	D;D;D;D;D	0.81914	0.975;0.98;0.979;0.995;0.936	T	0.36817	-0.9732	10	0.62326	D	0.03	-10.4011	16.1684	0.81786	0.0:0.0:1.0:0.0	.	653;795;729;652;730	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	T	730;652;653	ENSP00000366829:A730T;ENSP00000328848:A652T;ENSP00000329659:A653T	ENSP00000328848:A652T	A	+	1	0	RBM10	46929806	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.275000	0.51639	2.509000	0.84616	0.600000	0.82982	GCA		0.682	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		4	3	0	0	0	1	0	4	3				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			40	70	0	0	0	1	0	40	70				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	144	0	0	0	1	0	5	144				
WASH6P	653440	broad.mit.edu	37	X	155255024	155255024	+	RNA	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:155255024C>T	ENST00000461007.1	+	0	3940				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										AGGACGAGGACGACTGGGAAT	0.647																																						ENST00000285718.7																			0																																																			0							g.chrX:155255024C>T	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255024C>T						WASH6P_ENST00000461007.1_RNA								0	1329	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.647	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		5	11	0	0	0	1	0	5	11				
NOMO2	283820	broad.mit.edu	37	16	18554945	18554945	+	Silent	SNP	A	A	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:18554945A>C	ENST00000381474.3	-	7	794	c.729T>G	c.(727-729)acT>acG	p.T243T	NOMO2_ENST00000330537.6_Silent_p.T243T|NOMO2_ENST00000543392.1_Silent_p.T76T	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	243						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TTACCTCTTTAGTTACTAAAG	0.438																																						ENST00000330537.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						c.(727-729)acT>acG		NODAL modulator 2							99.0	84.0	90.0					16																	18554945		2195	4298	6493	SO:0001819	synonymous_variant	283820					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:18554945A>C	AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.729T>G	16.37:g.18554945A>C						NOMO2_ENST00000381474.3_Silent_p.T243T|NOMO2_ENST00000543392.1_Silent_p.T76T	p.T243T	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN			7	899	-			243					Q4G177	Silent	SNP	ENST00000381474.3	37	c.729T>G	CCDS32394.1																																																																																				0.438	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		53	92	0	0	0	1	0	53	92				
SLC25A38	54977	broad.mit.edu	37	3	39433035	39433035	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr3:39433035T>A	ENST00000273158.4	+	4	757	c.380T>A	c.(379-381)gTc>gAc	p.V127D		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTGGAGTCAGTCATGCTGGGG	0.527																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(379-381)gTc>gAc		solute carrier family 25, member 38							152.0	165.0	161.0					3																	39433035		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39433035T>A	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.380T>A	3.37:g.39433035T>A	ENSP00000273158:p.Val127Asp						p.V127D	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	4	757	+			127						Missense_Mutation	SNP	ENST00000273158.4	37	c.380T>A	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	t	22.2	4.263275	0.80358	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.80123	-1.34;-1.23	5.17	5.17	0.71159	Mitochondrial carrier domain (2);	0.166361	0.52532	D	0.000064	D	0.90459	0.7012	M	0.92507	3.315	0.80722	D	1	P	0.41265	0.744	P	0.56398	0.797	D	0.91717	0.5386	10	0.56958	D	0.05	-20.8226	12.9579	0.58441	0.0:0.0:0.0:1.0	.	127	Q96DW6	S2538_HUMAN	D	127;123	ENSP00000273158:V127D;ENSP00000394244:V123D	ENSP00000273158:V127D	V	+	2	0	SLC25A38	39408039	1.000000	0.71417	0.454000	0.27019	0.554000	0.35429	7.672000	0.83956	1.953000	0.56701	0.533000	0.62120	GTC		0.527	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		5	275	0	0	0	1	0	5	275				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	9	0	0	0	1	0	3	9				
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	T	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr18:15323347T>C	ENST00000455308.2	-	0	501				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						CCAATAAAAGTGGTGTGTGGC	0.303																																						ENST00000455308.2																			0																																																			0							g.chr18:15323347T>C																													18.37:g.15323347T>C								NR_027417.1						0	501	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.303	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			5	25	0	0	0	1	0	5	25				
SLC9A3R2	9351	broad.mit.edu	37	16	2087555	2087555	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:2087555C>T	ENST00000424542.2	+	6	947	c.809C>T	c.(808-810)gCg>gTg	p.A270V	SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A164V|NTHL1_ENST00000562951.1_5'Flank|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A270V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A159V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	270					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GGTGGCTCTGCGTGCTCGTCC	0.582																																					Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(808-810)gCg>gTg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							122.0	127.0	126.0					16																	2087555		2176	4266	6442	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2087555C>T	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.809C>T	16.37:g.2087555C>T	ENSP00000408005:p.Ala270Val					SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A270V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A164V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A159V	p.A270V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			6	947	+			270					D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.809C>T	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	C	1.784	-0.481103	0.04383	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.20738	2.05;2.08	4.53	-0.312	0.12758	.	0.777662	0.11569	N	0.550959	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.40496	-0.9560	10	0.17369	T	0.5	-13.2115	7.8343	0.29362	0.0:0.5526:0.0:0.4474	.	305;270;270	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	V	270	ENSP00000408005:A270V;ENSP00000402857:A270V	ENSP00000408005:A270V	A	+	2	0	SLC9A3R2	2027556	0.000000	0.05858	0.014000	0.15608	0.422000	0.31414	-0.367000	0.07553	-0.420000	0.07427	0.462000	0.41574	GCG		0.582	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			3	23	0	0	0	1	0	3	23				
ATRX	546	broad.mit.edu	37	X	76938344	76938344	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:76938344T>C	ENST00000373344.5	-	9	2618	c.2404A>G	c.(2404-2406)Ata>Gta	p.I802V	ATRX_ENST00000395603.3_Missense_Mutation_p.I764V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	802					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAGAAATTATAGAGCTCTTA	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2404-2406)Ata>Gta		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						102.0	111.0	108.0					X																	76938344		2201	4293	6494	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938344T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2404A>G	X.37:g.76938344T>C	ENSP00000362441:p.Ile802Val					ATRX_ENST00000395603.3_Missense_Mutation_p.I764V|ATRX_ENST00000480283.1_5'UTR	p.I802V	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2618	-			802					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2404A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	0.902	-0.721958	0.03182	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91894	-2.92;-2.93	5.73	3.2	0.36748	.	0.431580	0.21370	N	0.075650	D	0.85344	0.5675	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.0;0.0	T	0.69053	-0.5247	10	0.21540	T	0.41	-0.1374	3.263	0.06855	0.1726:0.3008:0.0:0.5266	.	802;734;764;802	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	V	802;764;729	ENSP00000362441:I802V;ENSP00000378967:I764V	ENSP00000362441:I802V	I	-	1	0	ATRX	76825000	0.001000	0.12720	0.461000	0.27105	0.906000	0.53458	0.184000	0.16939	0.231000	0.21079	0.380000	0.24917	ATA		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		188	186	0	0	0	1	0	188	186				
GLTSCR2	29997	broad.mit.edu	37	19	48248981	48248981	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:48248981G>A	ENST00000246802.5	+	1	203	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	55						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CTCAGGAGCCGCTGGGGCTGG	0.697																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(163-165)ccG>ccA		glioma tumor suppressor candidate region gene 2							12.0	17.0	15.0					19																	48248981		2189	4281	6470	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48248981G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.165G>A	19.37:g.48248981G>A						GLTSCR2_ENST00000598681.1_3'UTR	p.P55P	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	1	203	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	55					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.165G>A	CCDS12705.1																																																																																				0.697	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		3	11	0	0	0	1	0	3	11				
CNGA4	1262	broad.mit.edu	37	11	6261635	6261635	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr11:6261635C>T	ENST00000379936.2	+	4	726	c.611C>T	c.(610-612)cCg>cTg	p.P204L	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	204					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGTACCCGGACCCCGCG	0.567																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(610-612)cCg>cTg		cyclic nucleotide gated channel alpha 4							62.0	68.0	66.0					11																	6261635		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261635C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.611C>T	11.37:g.6261635C>T	ENSP00000369268:p.Pro204Leu					CNGA4_ENST00000533426.1_Intron	p.P204L	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	726	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	204						Missense_Mutation	SNP	ENST00000379936.2	37	c.611C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508004	0.85282	.	.	ENSG00000132259	ENST00000379936	D	0.98345	-4.88	5.25	5.25	0.73442	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.77557	0.99;0.891	D	0.99308	1.0903	10	0.42905	T	0.14	.	17.7596	0.88461	0.0:1.0:0.0:0.0	.	204;164	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	L	204	ENSP00000369268:P204L	ENSP00000369268:P204L	P	+	2	0	CNGA4	6218211	1.000000	0.71417	0.997000	0.53966	0.598000	0.36846	7.445000	0.80570	2.602000	0.87976	0.650000	0.86243	CCG		0.567	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		16	169	0	0	0	1	0	16	169				
CEP55	55165	broad.mit.edu	37	10	95276727	95276727	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr10:95276727G>A	ENST00000371485.3	+	6	1019	c.715G>A	c.(715-717)Gat>Aat	p.D239N		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	239					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ATGTTACAACGATCTCTTGGC	0.333																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(715-717)Gat>Aat		centrosomal protein 55kDa							66.0	68.0	67.0					10																	95276727		2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95276727G>A	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.715G>A	10.37:g.95276727G>A	ENSP00000360540:p.Asp239Asn						p.D239N	NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN			6	1019	+		Colorectal(252;0.207)	239					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.715G>A	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859786	0.17178	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.16597	2.33	5.74	1.77	0.24775	.	0.521358	0.23369	N	0.048922	T	0.07773	0.0195	N	0.08118	0	0.19300	N	0.999975	B	0.02656	0.0	B	0.01281	0.0	T	0.36866	-0.9730	10	0.21540	T	0.41	-1.7292	9.9546	0.41660	0.3544:0.4011:0.2445:0.0	.	239	Q53EZ4	CEP55_HUMAN	N	239	ENSP00000360540:D239N	ENSP00000351102:D239N	D	+	1	0	CEP55	95266717	0.392000	0.25229	0.258000	0.24420	0.341000	0.28922	0.789000	0.26886	0.065000	0.16485	-0.311000	0.09066	GAT		0.333	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		22	54	0	0	0	1	0	22	54				
TJP2	9414	broad.mit.edu	37	9	71861646	71861646	+	Silent	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr9:71861646C>T	ENST00000377245.4	+	18	2815	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	TJP2_ENST00000453658.2_Silent_p.G846G|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000535702.1_Silent_p.G873G|TJP2_ENST00000348208.4_Silent_p.G869G|TJP2_ENST00000265384.7_Silent_p.G869G|TJP2_ENST00000539225.1_Silent_p.G900G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	869	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GCTGGTTTGGCAGCTTAAAGG	0.408																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(2605-2607)ggC>ggT		tight junction protein 2							127.0	121.0	123.0					9																	71861646		2203	4300	6503	SO:0001819	synonymous_variant	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71861646C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2607C>T	9.37:g.71861646C>T						TJP2_ENST00000539225.1_Silent_p.G900G|TJP2_ENST00000265384.7_Silent_p.G869G|TJP2_ENST00000453658.2_Silent_p.G846G|TJP2_ENST00000535702.1_Silent_p.G873G|TJP2_ENST00000348208.4_Silent_p.G869G|TJP2_ENST00000498204.1_3'UTR	p.G869G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			18	2815	+			869			Guanylate kinase-like.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	c.2607C>T	CCDS6627.1																																																																																				0.408	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		4	99	0	0	0	1	0	4	99				
ADCY3	109	broad.mit.edu	37	2	25141329	25141329	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:25141329G>A	ENST00000260600.5	-	1	1379	c.528C>T	c.(526-528)gtC>gtT	p.V176V		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	176					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGAAGGAGAAGACAAAGAAGA	0.612																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(526-528)gtC>gtT		adenylate cyclase 3							79.0	85.0	83.0					2																	25141329		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25141329G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.528C>T	2.37:g.25141329G>A							p.V176V	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			1	1379	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		176					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.528C>T	CCDS1715.1																																																																																				0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			38	33	0	0	0	1	0	38	33				
ERAS	3266	broad.mit.edu	37	X	48688182	48688182	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:48688182G>A	ENST00000338270.1	+	1	900	c.649G>A	c.(649-651)Gag>Aag	p.E217K	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	217					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GTCCTGTAGGGAGAAGACCCG	0.607																																						ENST00000338270.1																			0				endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						c.(649-651)Gag>Aag		ES cell expressed Ras							17.0	16.0	16.0					X																	48688182		2193	4294	6487	SO:0001583	missense	3266				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chrX:48688182G>A	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"""	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.649G>A	X.37:g.48688182G>A	ENSP00000339136:p.Glu217Lys						p.E217K	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN			1	900	+			217						Missense_Mutation	SNP	ENST00000338270.1	37	c.649G>A	CCDS35246.1	.	.	.	.	.	.	.	.	.	.	g	0.141	-1.102544	0.01828	.	.	ENSG00000187682	ENST00000338270	T	0.70869	-0.52	3.77	-5.01	0.02991	.	4.248470	0.00911	N	0.002469	T	0.42988	0.1227	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52230	-0.8603	10	0.02654	T	1	.	6.3421	0.21328	0.5667:0.2785:0.1548:0.0	.	217	Q7Z444	RASE_HUMAN	K	217	ENSP00000339136:E217K	ENSP00000339136:E217K	E	+	1	0	ERAS	48573126	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.856000	0.01662	-1.444000	0.01950	-0.386000	0.06593	GAG		0.607	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532		9	12	0	0	0	1	0	9	12				
TKT	7086	broad.mit.edu	37	3	53264614	53264614	+	Silent	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr3:53264614C>T	ENST00000462138.1	-	8	1054	c.966G>A	c.(964-966)ggG>ggA	p.G322G	TKT_ENST00000423525.2_Silent_p.G322G|TKT_ENST00000296289.6_Silent_p.G275G|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.G330G			P29401	TKT_HUMAN	transketolase	322					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCAGTGCCTGCCCGTAGGCCT	0.597																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(964-966)ggG>ggA		transketolase	Thiamine(DB00152)						69.0	64.0	66.0					3																	53264614		2203	4300	6503	SO:0001819	synonymous_variant	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53264614C>T		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.966G>A	3.37:g.53264614C>T						TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Silent_p.G275G|TKT_ENST00000423516.1_Silent_p.G330G|TKT_ENST00000423525.2_Silent_p.G322G	p.G322G			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	8	1054	-		Prostate(884;0.0959)	322					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	c.966G>A	CCDS2871.1																																																																																				0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			16	28	0	0	0	1	0	16	28				
LOC644669	644669	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	G	A	rs199831831		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr18:15323336G>A	ENST00000455308.2	-	0	512				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						TTTCCTTATGGCCAATAAAAG	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		16958	0.0		0.001	False		,,,				2504	0.0					ENST00000455308.2																			0																																																			0							g.chr18:15323336G>A																													18.37:g.15323336G>A								NR_027417.1						0	512	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.289	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			6	26	0	0	0	1	0	6	26				
FAM96A	84191	broad.mit.edu	37	15	64381046	64381046	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr15:64381046C>G	ENST00000300030.3	-	2	378	c.129G>C	c.(127-129)ttG>ttC	p.L43F	FAM96A_ENST00000559950.1_Missense_Mutation_p.L43F|FAM96A_ENST00000380290.3_Missense_Mutation_p.L43F|FAM96A_ENST00000557835.1_Missense_Mutation_p.L43F	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	43					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TAGTTCTAATCAAATCTAAAG	0.348																																						ENST00000557835.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(127-129)ttG>ttC		family with sequence similarity 96, member A							45.0	45.0	45.0					15																	64381046		2203	4300	6503	SO:0001583	missense	84191				chromosome segregation			g.chr15:64381046C>G		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.129G>C	15.37:g.64381046C>G	ENSP00000300030:p.Leu43Phe					FAM96A_ENST00000559950.1_Missense_Mutation_p.L43F|FAM96A_ENST00000300030.3_Missense_Mutation_p.L43F|FAM96A_ENST00000380290.3_Missense_Mutation_p.L43F	p.L43F			Q9H5X1	FA96A_HUMAN			2	155	-			43					A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	c.129G>C	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603551	0.46423	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.63	4.62	0.57501	Domain of unknown function DUF59 (1);	0.241689	0.34603	N	0.003832	T	0.42086	0.1187	L	0.41027	1.25	0.44871	D	0.997881	P;B	0.38335	0.627;0.153	B;B	0.40901	0.343;0.121	T	0.37619	-0.9698	9	0.46703	T	0.11	-4.7942	5.2567	0.15552	0.0:0.7643:0.0:0.2357	.	43;43	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	F	43	.	ENSP00000300030:L43F	L	-	3	2	FAM96A	62168099	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.943000	0.29030	2.659000	0.90383	0.650000	0.86243	TTG		0.348	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		36	38	0	0	0	1	0	36	38				
RASEF	158158	broad.mit.edu	37	9	85605368	85605368	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr9:85605368T>G	ENST00000376447.3	-	16	2315	c.2055A>C	c.(2053-2055)ttA>ttC	p.L685F		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	685					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTCACAGAATAATGCCCCAT	0.348																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(2053-2055)ttA>ttC		RAS and EF-hand domain containing							125.0	113.0	117.0					9																	85605368		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85605368T>G	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2055A>C	9.37:g.85605368T>G	ENSP00000365630:p.Leu685Phe						p.L685F	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			16	2315	-			685					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.2055A>C	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149103	0.57151	.	.	ENSG00000165105	ENST00000376447	T	0.80123	-1.34	5.52	3.21	0.36854	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000003	D	0.85643	0.5744	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84765	0.0764	10	0.72032	D	0.01	.	7.6545	0.28367	0.0:0.2322:0.0:0.7678	.	685	Q8IZ41	RASEF_HUMAN	F	685	ENSP00000365630:L685F	ENSP00000365630:L685F	L	-	3	2	RASEF	84795188	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	0.701000	0.25616	0.935000	0.37341	0.533000	0.62120	TTA		0.348	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		48	59	0	0	0	1	0	48	59				
FAM24A	118670	broad.mit.edu	37	10	124671156	124671156	+	Silent	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr10:124671156A>G	ENST00000368894.1	+	2	127	c.6A>G	c.(4-6)gcA>gcG	p.A2A		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	2						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TAGGCATGGCAAAGATGTTTG	0.502																																						ENST00000368894.1																			0				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(4-6)gcA>gcG		family with sequence similarity 24, member A							309.0	259.0	276.0					10																	124671156		2203	4300	6503	SO:0001819	synonymous_variant	118670					extracellular region		g.chr10:124671156A>G		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.6A>G	10.37:g.124671156A>G							p.A2A	NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	2	127	+		all_neural(114;0.169)|Glioma(114;0.222)	2						Silent	SNP	ENST00000368894.1	37	c.6A>G	CCDS31304.1																																																																																				0.502	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		78	108	0	0	0	1	0	78	108				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	137	0	0	0	1	0	6	137				
MMAB	326625	broad.mit.edu	37	12	109998861	109998861	+	Missense_Mutation	SNP	G	G	A	rs398124434		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr12:109998861G>A	ENST00000545712.2	-	7	961	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	MMAB_ENST00000540016.1_Missense_Mutation_p.R138C|MMAB_ENST00000266839.5_Missense_Mutation_p.R99C	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	190					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCGGCCCGGCGGCACACGGCC	0.652																																						ENST00000545712.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6	GRCh37	CM061117	MMAB	M		c.(568-570)Cgc>Tgc		methylmalonic aciduria (cobalamin deficiency) cblB type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						39.0	40.0	40.0					12																	109998861		2203	4300	6503	SO:0001583	missense	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109998861G>A	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.568C>T	12.37:g.109998861G>A	ENSP00000445920:p.Arg190Cys					MMAB_ENST00000540016.1_Missense_Mutation_p.R138C|MMAB_ENST00000266839.5_Missense_Mutation_p.R99C	p.R190C	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN			7	961	-			190					C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	c.568C>T	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112375	0.77210	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.98762	-5.12;-5.12	4.91	4.91	0.64330	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.000000	0.85682	D	0.000000	D	0.99545	0.9837	H	0.99357	4.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97672	1.0167	10	0.87932	D	0	-25.5206	15.4029	0.74855	0.0:0.0:1.0:0.0	.	99;190;190	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	C	190;99	ENSP00000445920:R190C;ENSP00000266839:R99C	ENSP00000266839:R99C	R	-	1	0	MMAB	108483244	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.300000	0.78841	2.545000	0.85829	0.650000	0.86243	CGC		0.652	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			10	42	0	0	0	1	0	10	42				
ATF4P4	100127952	broad.mit.edu	37	11	113661308	113661308	+	RNA	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr11:113661308A>G	ENST00000393544.2	+	0	1356									activating transcription factor 4 pseudogene 4																		GAGAAAATGGATTTGAAGGAG	0.478																																						ENST00000393544.2																			0																																																			0							g.chr11:113661308A>G			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661308A>G														0	1356	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.478	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		67	55	0	0	0	1	0	67	55				
FOXO4	4303	broad.mit.edu	37	X	70321220	70321220	+	Silent	SNP	C	C	T	rs199679716		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:70321220C>T	ENST00000374259.3	+	2	1472	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	FOXO4_ENST00000341558.3_Silent_p.D325D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	380					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CCCCTGCTGACGTCCTCATGA	0.652																																						ENST00000374259.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18						c.(1138-1140)gaC>gaT		forkhead box O4		T	,	0,3432		0,0,0,1431,570	26.0	27.0	26.0		975,1140	3.9	1.0	X		26	5,6485		0,4,1,2345,1791	no	coding-synonymous,coding-synonymous	FOXO4	NM_001170931.1,NM_005938.3	,	0,4,1,3776,2361	TT,TC,T,CC,C		0.077,0.0,0.0504	,	325/451,380/506	70321220	5,9917	2001	4141	6142	SO:0001819	synonymous_variant	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70321220C>T		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1140C>T	X.37:g.70321220C>T						FOXO4_ENST00000341558.3_Silent_p.D325D	p.D380D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN			2	1472	+	Renal(35;0.156)		380					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	ENST00000374259.3	37	c.1140C>T	CCDS43969.1																																																																																				0.652	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		6	42	0	0	0	1	0	6	42				
SEMA3A	10371	broad.mit.edu	37	7	83823801	83823801	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:83823801T>G	ENST00000265362.4	-	1	416	c.102A>C	c.(100-102)ttA>ttC	p.L34F	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L34F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	34	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTGTAGGATAATTTCAGCC	0.408																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(100-102)ttA>ttC		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							176.0	175.0	175.0					7																	83823801		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83823801T>G	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.102A>C	7.37:g.83823801T>G	ENSP00000265362:p.Leu34Phe					SEMA3A_ENST00000436949.1_Missense_Mutation_p.L34F	p.L34F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			1	416	-			34			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.102A>C	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738402	0.30774	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047;ENST00000448879	T;T;T	0.27256	1.68;1.68;1.68	5.84	3.36	0.38483	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.287180	0.33792	N	0.004546	T	0.27524	0.0676	M	0.76938	2.355	0.50467	D	0.999871	B	0.09022	0.002	B	0.15052	0.012	T	0.08932	-1.0698	10	0.59425	D	0.04	.	5.393	0.16253	0.0:0.2065:0.1382:0.6553	.	34	Q14563	SEM3A_HUMAN	F	34	ENSP00000265362:L34F;ENSP00000415260:L34F;ENSP00000391900:L34F	ENSP00000265362:L34F	L	-	3	2	SEMA3A	83661737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.996000	0.29719	0.430000	0.26230	0.529000	0.55759	TTA		0.408	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		62	75	0	0	0	1	0	62	75				
RASAL2	9462	broad.mit.edu	37	1	178427190	178427190	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:178427190G>A	ENST00000462775.1	+	12	2465	c.2340G>A	c.(2338-2340)tcG>tcA	p.S780S	RASAL2_ENST00000448150.3_Silent_p.S910S|RASAL2_ENST00000367649.3_Silent_p.S921S	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	780					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGCCCTTGTCGTTCCAGAACC	0.542																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2728-2730)tcG>tcA		RAS protein activator like 2							89.0	91.0	90.0					1																	178427190		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427190G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2340G>A	1.37:g.178427190G>A						RASAL2_ENST00000462775.1_Silent_p.S780S|RASAL2_ENST00000367649.3_Silent_p.S921S	p.S910S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			14	3548	+			780					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2730G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	g	5.095	0.203201	0.09704	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.31	-10.6	0.00265	.	.	.	.	.	T	0.47451	0.1446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59306	-0.7479	4	.	.	.	.	10.0515	0.42219	0.3885:0.4867:0.0586:0.0662	.	.	.	.	I	331	.	.	V	+	1	0	RASAL2	176693813	0.000000	0.05858	0.864000	0.33941	0.926000	0.56050	-1.747000	0.01827	-1.590000	0.01623	-2.349000	0.00243	GTT		0.542	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		12	60	0	0	0	1	0	12	60				
KIF13B	23303	broad.mit.edu	37	8	29043864	29043864	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr8:29043864C>T	ENST00000524189.1	-	6	480	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	KIF13B_ENST00000521515.1_Missense_Mutation_p.V148M	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	148	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATGTAGGACACTTCTACTTTA	0.393																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(442-444)Gtg>Atg		kinesin family member 13B							154.0	156.0	155.0					8																	29043864		1828	4076	5904	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29043864C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.442G>A	8.37:g.29043864C>T	ENSP00000427900:p.Val148Met					KIF13B_ENST00000521515.1_Missense_Mutation_p.V148M	p.V148M	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	6	480	-		Ovarian(32;0.000536)	148			Kinesin-motor.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.442G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884411	0.91814	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.79141	-1.24;-1.24	5.24	5.24	0.73138	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.88496	0.6452	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.979	D	0.88313	0.2957	10	0.51188	T	0.08	.	19.0179	0.92901	0.0:1.0:0.0:0.0	.	134;148;148	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	M	148	ENSP00000427900:V148M;ENSP00000429201:V148M	ENSP00000429201:V148M	V	-	1	0	KIF13B	29099783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.728000	0.93425	0.650000	0.86243	GTG		0.393	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			10	177	0	0	0	1	0	10	177				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	149	0	0	0	1	0	5	149				
DNAH17	8632	broad.mit.edu	37	17	76491163	76491163	+	Missense_Mutation	SNP	C	C	T	rs374326783		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:76491163C>T	ENST00000585328.1	-	39	6029	c.5905G>A	c.(5905-5907)Gtc>Atc	p.V1969I	DNAH17_ENST00000389840.5_Missense_Mutation_p.V1960I|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1960	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGTCGGGGACGACCATGGCA	0.607																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5878-5880)Gtc>Atc		dynein, axonemal, heavy chain 17		C	ILE/VAL	2,4108		0,2,2053	24.0	28.0	26.0		5920	3.6	1.0	17		26	0,8410		0,0,4205	no	missense	DNAH17	NM_173628.3	29	0,2,6258	TT,TC,CC		0.0,0.0487,0.016		1974/4463	76491163	2,12518	2055	4205	6260	SO:0001583	missense	8632							g.chr17:76491163C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5905G>A	17.37:g.76491163C>T	ENSP00000465516:p.Val1969Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.V1969I|RP11-559N14.5_ENST00000591373.1_RNA	p.V1960I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		39	6002	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5878G>A		.	.	.	.	.	.	.	.	.	.	C	15.85	2.953519	0.53293	4.87E-4	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.12879	2.64	3.61	3.61	0.41365	.	.	.	.	.	T	0.29783	0.0744	M	0.69185	2.1	0.33240	D	0.557052	.	.	.	.	.	.	T	0.46898	-0.9158	7	0.62326	D	0.03	.	15.4818	0.75534	0.0:1.0:0.0:0.0	.	.	.	.	I	1969;1960	ENSP00000374490:V1960I	ENSP00000300671:V1969I	V	-	1	0	DNAH17	74002758	0.997000	0.39634	0.968000	0.41197	0.638000	0.38207	3.715000	0.54897	1.843000	0.53566	0.499000	0.49734	GTC		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	8	0	0	0	1	0	4	8				
BAGE2	85319	broad.mit.edu	37	21	11038748	11038748	+	RNA	SNP	C	C	T	rs75164355	byFrequency	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr21:11038748C>T	ENST00000470054.1	-	0	1455							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGAGGTCTACCAGGAGAAAAT	0.378																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038748C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038748C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1455	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	245	0	0	0	1	0	8	245				
LOC644669	644669	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr18:15323340A>G	ENST00000455308.2	-	0	508				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						CTTATGGCCAATAAAAGTGGT	0.299																																						ENST00000455308.2																			0																																																			0							g.chr18:15323340A>G																													18.37:g.15323340A>G								NR_027417.1						0	508	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.299	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			6	27	0	0	0	1	0	6	27				
KRT73	319101	broad.mit.edu	37	12	53008439	53008439	+	Missense_Mutation	SNP	G	G	A	rs142246988	byFrequency	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr12:53008439G>A	ENST00000305748.3	-	4	777	c.743C>T	c.(742-744)aCg>aTg	p.T248M	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	248	Coil 1B.|Rod.		T -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.T248M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTTTGCTCGTGTAAGCTGC	0.577													A|||	4	0.000798722	0.0	0.0014	5008	,	,		19828	0.0		0.003	False		,,,				2504	0.0					ENST00000305748.3																			1	Substitution - Missense(1)	p.T248M(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(742-744)aCg>aTg		keratin 73		A	MET/THR	1,4405	826.1+/-416.6	0,1,2202	127.0	104.0	112.0		743	3.9	1.0	12	dbSNP_134	112	24,8576	818.2+/-406.9	0,24,4276	yes	missense	KRT73	NM_175068.2	81	0,25,6478	AA,AG,GG		0.2791,0.0227,0.1922	benign	248/541	53008439	25,12981	2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53008439G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.743C>T	12.37:g.53008439G>A	ENSP00000307014:p.Thr248Met					RP11-641A6.2_ENST00000552364.1_RNA	p.T248M	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	777	-			248		T -> M (in a colorectal cancer sample; somatic mutation).	Coil 1B.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.743C>T	CCDS8834.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	A	11.03	1.517683	0.27123	2.27E-4	0.002791	ENSG00000186049	ENST00000305748	D	0.87650	-2.28	4.99	3.86	0.44501	Filament (1);	0.101474	0.44902	N	0.000419	T	0.43722	0.1260	N	0.00011	-2.985	0.19775	N	0.999954	B	0.14805	0.011	B	0.12156	0.007	T	0.57980	-0.7717	10	0.02654	T	1	.	8.8422	0.35148	0.8424:0.0:0.1576:0.0	.	248	Q86Y46	K2C73_HUMAN	M	248	ENSP00000307014:T248M	ENSP00000307014:T248M	T	-	2	0	KRT73	51294706	0.987000	0.35691	1.000000	0.80357	0.542000	0.35054	5.115000	0.64655	1.003000	0.39130	-0.381000	0.06696	ACG		0.577	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		42	38	0	0	0	1	0	42	38				
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(730-735)aaagcafs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR	p.A245fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	923_924	-			245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		9	123						9	123	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)atafs	p.I497fs	RTN4_ENST00000357376.3_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.I265fs|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1489-1491)agafs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253745_55253746insT	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1490dupA	2.37:g.55253754_55253754dupT	ENSP00000337838:p.Ile497fs					RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000357732.4_Intron	p.R497fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1732_1733	-			497					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Ins	INS	ENST00000337526.6	37	c.1489_1490insA	CCDS42684.1																																																																																				0.381	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			7	110						7	110	---	---	---	---
CAPN10	11132	broad.mit.edu	37	2	241531435	241531435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:241531435delA	ENST00000391984.2	+	4	752	c.556delA	c.(556-558)aacfs	p.N186fs	CAPN10_ENST00000354082.4_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.N186fs	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	186	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGAAAGATGGAACCTGAAGGG	0.657																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(556-558)acfs		calpain 10							34.0	39.0	37.0					2																	241531435		2202	4299	6501	SO:0001589	frameshift_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241531435delA	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.556delA	2.37:g.241531435delA	ENSP00000375844:p.Asn186fs					CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000354082.4_Frame_Shift_Del_p.N186fs	p.N186fs	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	4	752	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	186			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Frame_Shift_Del	DEL	ENST00000391984.2	37	c.556delA	CCDS42838.1																																																																																				0.657	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102295874	102295876	+	RNA	DEL	CTC	CTC	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr15:102295874_102295876delCTC	ENST00000561463.1	+	0	3920_3922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102295874_102295876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102295874_102295876delCTC														0	3920_3922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	6						3	6	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1268228	1268228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:1268228delT	ENST00000348261.5	+	33	5712	c.5464delT	c.(5464-5466)tccfs	p.S1822fs	CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.S1816fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.S1816fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1822					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCGCGAGTGCTCCCGTGAGGA	0.697																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(5464-5466)ccfs		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						22.0	26.0	25.0					16																	1268228		2011	4002	6013	SO:0001589	frameshift_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1268228delT	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5464delT	16.37:g.1268228delT	ENSP00000334198:p.Ser1822fs					CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.S1816fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.S1816fs	p.S1822fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			33	5712	+		Hepatocellular(780;0.00369)	1822					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	ENST00000348261.5	37	c.5464delT	CCDS45375.1																																																																																				0.697	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		2	4						2	4	---	---	---	---
TMEM101	84336	broad.mit.edu	37	17	42102427	42102427	+	5'Flank	DEL	A	A	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:42102427delA	ENST00000589334.1	-	0	0				TMEM101_ENST00000591162.1_5'Flank|U3_ENST00000408117.1_RNA			Q96IK0	TM101_HUMAN	transmembrane protein 101						positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ttcccgaaggaagaggagcag	0.557																																						ENST00000408117.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:42102427delA	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0			17.37:g.42102427delA	Exception_encountered													0	164	-								B2R9N6	RNA	DEL	ENST00000589334.1	37		CCDS11474.1																																																																																				0.557	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		2	4						2	4	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:19136394delT	ENST00000601879.1	-	3	1060	c.763delA	c.(763-765)atafs	p.I255fs	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	255					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(763-765)tafs		SURP and G patch domain containing 2							168.0	156.0	160.0					19																	19136394		2203	4300	6503	SO:0001589	frameshift_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136394delT	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.763delA	19.37:g.19136394delT	ENSP00000472286:p.Ile255fs					SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs	p.I255fs			Q8IX01	SUGP2_HUMAN			3	1060	-			255					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Frame_Shift_Del	DEL	ENST00000601879.1	37	c.763delA	CCDS12392.1																																																																																				0.502	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		7	195						7	195	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47569810	47569810	+	Frame_Shift_Del	DEL	C	C	-	rs568440265		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:47569810delC	ENST00000253048.5	-	15	3752	c.3715delG	c.(3715-3717)gagfs	p.E1239fs	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1239							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGGCACCCTCGGGGGGTGGG	0.701																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(3715-3717)agfs		zinc finger CCCH-type containing 4							7.0	9.0	9.0					19																	47569810		1722	3812	5534	SO:0001589	frameshift_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47569810delC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3715delG	19.37:g.47569810delC	ENSP00000253048:p.Glu1239fs					ZC3H4_ENST00000594019.1_5'UTR	p.E1239fs	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	3752	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	1239					Q9Y420	Frame_Shift_Del	DEL	ENST00000253048.5	37	c.3715delG	CCDS42582.1																																																																																				0.701	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			2	4						2	4	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	0							g.chr20:29625899_29625900insAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	187						9	187	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938331	76938331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:76938331delT	ENST00000373344.5	-	9	2631	c.2417delA	c.(2416-2418)aagfs	p.K807fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K769fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	807					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGTCGTTTCTTTTTAGAAAT	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2416-2418)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						97.0	106.0	103.0					X																	76938331		2201	4293	6494	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938331delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2417delA	X.37:g.76938331delT	ENSP00000362441:p.Lys807fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K769fs	p.K807fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2631	-			807					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2417delA	CCDS14434.1																																																																																				0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		179	185						179	185	---	---	---	---
