#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
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>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.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	143	0	0	0	1	0	9	143				
PYCARD	29108	broad.mit.edu	37	16	31214039	31214039	+	5'UTR	SNP	C	C	T			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr16:31214039C>T	ENST00000247470.9	-	0	274				C16orf98_ENST00000561916.2_Missense_Mutation_p.R89C|PYCARD_ENST00000350605.4_5'UTR	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						CCGCTGCCGCCGCTCACCCCG	0.721																																						ENST00000561916.2																			0											c.(265-267)Cgc>Tgc		chromosome 16 open reading frame 98							10.0	12.0	11.0					16																	31214039		1903	3827	5730	SO:0001623	5_prime_UTR_variant	100652740							g.chr16:31214039C>T	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.-28G>A	16.37:g.31214039C>T						PYCARD_ENST00000350605.4_5'UTR|PYCARD_ENST00000247470.9_5'UTR	p.R89C							2	361	+								Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	c.265C>T	CCDS10708.1																																																																																				0.721	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		3	23	0	0	0	1	0	3	23				
TP73-AS1	57212	broad.mit.edu	37	1	3662614	3662614	+	RNA	SNP	G	G	A			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr1:3662614G>A	ENST00000452079.1	-	0	1272				TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											AGAGACGTGTGGCCCACAGCG	0.652																																						ENST00000452079.1																			0																				109.0	122.0	117.0					1																	3662614		2197	4285	6482			0							g.chr1:3662614G>A			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662614G>A						TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA		NR_033711.1						0	1272	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.652	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		9	97	0	0	0	1	0	9	97				
NBEAP1	606	broad.mit.edu	37	15	20876518	20876518	+	RNA	SNP	C	C	T	rs533513740	byFrequency	TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr15:20876518C>T	ENST00000556948.1	-	0	82							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		CAAAGGTACTCCATGAGATAA	0.338													C|||	3	0.000599042	0.0	0.0014	5008	,	,		39980	0.0		0.002	False		,,,				2504	0.0					ENST00000556948.1																			0																																																			0							g.chr15:20876518C>T			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20876518C>T														0	82	-									RNA	SNP	ENST00000556948.1	37																																																																																						0.338	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		12	61	0	0	0	1	0	12	61				
RPL36AL	6166	broad.mit.edu	37	14	50085726	50085726	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr14:50085726A>C	ENST00000298289.6	-	2	256	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	33					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					TGGGCATACAAAGAATCCTTG	0.473																																						ENST00000298289.6																			0											c.(97-99)Ttg>Gtg		ribosomal protein L36a-like							112.0	105.0	108.0					14																	50085726		2203	4300	6503	SO:0001583	missense	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085726A>C	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"""L ribosomal proteins"""	10346	protein-coding gene	gene with protein product		180469	"""ribosomal protein L36a"""	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.97T>G	14.37:g.50085726A>C	ENSP00000346012:p.Leu33Val						p.L33V	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	256	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		33					Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.97T>G	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048671	0.36181	.	.	ENSG00000165502	ENST00000298289	T	0.46451	0.87	4.16	0.956	0.19608	Ribosomal protein, zinc-binding domain (1);	0.000000	0.56097	U	0.000024	T	0.28101	0.0693	.	.	.	0.24266	N	0.995266	B	0.02656	0.0	B	0.10450	0.005	T	0.17531	-1.0366	9	0.40728	T	0.16	-33.4981	8.2999	0.32008	0.2947:0.0:0.7053:0.0	.	33	Q969Q0	RL36L_HUMAN	V	33	ENSP00000346012:L33V	ENSP00000346012:L33V	L	-	1	2	RPL36AL	49155476	1.000000	0.71417	0.978000	0.43139	0.842000	0.47809	5.008000	0.63991	0.217000	0.20800	-0.379000	0.06801	TTG		0.473	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			38	85	0	0	0	1	0	38	85				
TGM3	7053	broad.mit.edu	37	20	2290333	2290333	+	Missense_Mutation	SNP	C	C	A	rs214803	byFrequency	TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr20:2290333C>A	ENST00000381458.5	+	2	101	c.38C>A	c.(37-39)aCg>aAg	p.T13K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	13			T -> K (in dbSNP:rs214803). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8099584, ECO:0000269|Ref.3, ECO:0000269|Ref.5, ECO:0000269|Ref.7}.		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.T13M(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AACTGGCAGACGGCCTTCAAC	0.522													C|||	3719	0.742612	0.41	0.8329	5008	,	,		21352	0.9246		0.838	False		,,,				2504	0.8425					ENST00000381458.5																			1	Substitution - Missense(1)	p.T13M(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(37-39)aCg>aAg		transglutaminase 3	L-Glutamine(DB00130)	C	LYS/THR	2137,2269	580.0+/-385.0	504,1129,570	126.0	112.0	117.0		38	-1.1	0.0	20	dbSNP_79	117	7058,1542	746.8+/-407.3	2900,1258,142	yes	missense	TGM3	NM_003245.3	78	3404,2387,712	AA,AC,CC		17.9302,48.502,29.3019	benign	13/694	2290333	9195,3811	2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2290333C>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.38C>A	20.37:g.2290333C>A	ENSP00000370867:p.Thr13Lys						p.T13K	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			2	101	+			13		T -> K (in dbSNP:rs214803).			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.38C>A	CCDS33435.1	1675	0.766941391941392	211	0.42886178861788615	293	0.8093922651933702	539	0.9423076923076923	632	0.8337730870712401	C	9.284	1.048874	0.19827	0.48502	0.820698	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.84223	-1.82	5.53	-1.08	0.09936	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.443610	0.03527	N	0.221885	T	0.00012	0.0000	N	0.04880	-0.145	0.80722	P	0.0	P	0.40681	0.727	B	0.24269	0.052	T	0.48375	-0.9041	9	0.28530	T	0.3	-12.1737	2.9077	0.05726	0.3045:0.2675:0.0:0.428	rs214803;rs3844903;rs52815802;rs60904394;rs214803	13	Q08188	TGM3_HUMAN	K	13	ENSP00000370867:T13K	ENSP00000370867:T13K	T	+	2	0	TGM3	2238333	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.742000	0.01835	-0.157000	0.11059	-0.367000	0.07326	ACG		0.522	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		6	117	1	0	0.00116845	1	0.00126192	6	117				
KIF1A	547	broad.mit.edu	37	2	241710459	241710459	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr2:241710459C>T	ENST00000320389.7	-	14	1401	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A424T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	415					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACACGGAGGCCGCGCGGCTG	0.647																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1270-1272)Gcc>Acc		kinesin family member 1A							45.0	58.0	54.0					2																	241710459		2110	4256	6366	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241710459C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1243G>A	2.37:g.241710459C>T	ENSP00000322791:p.Ala415Thr					KIF1A_ENST00000320389.7_Missense_Mutation_p.A415T	p.A424T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	15	1516	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	415					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1270G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.821	0.937476	0.18206	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.72942	-0.58;-0.61;-0.7	4.11	4.11	0.48088	.	0.126644	0.52532	U	0.000077	T	0.65417	0.2689	M	0.65975	2.015	0.52501	D	0.999957	B;P;B	0.43788	0.002;0.817;0.418	B;B;B	0.38562	0.008;0.276;0.202	T	0.66452	-0.5920	10	0.08837	T	0.75	.	16.3652	0.83317	0.0:1.0:0.0:0.0	.	424;424;415	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	415;424;424;424	ENSP00000322791:A415T;ENSP00000438388:A424T;ENSP00000384231:A424T	ENSP00000322791:A415T	A	-	1	0	KIF1A	241359132	1.000000	0.71417	0.828000	0.32881	0.063000	0.16089	7.589000	0.82641	1.848000	0.53677	0.555000	0.69702	GCC		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		6	66	0	0	0	1	0	6	66				
DNM1P47	100216544	broad.mit.edu	37	15	102292819	102292819	+	RNA	SNP	C	C	T			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr15:102292819C>T	ENST00000561463.1	+	0	865									DNM1 pseudogene 47																		CGCGTGGGAACGAGAAGACAC	0.592																																						ENST00000561463.1																			0																																																			0							g.chr15:102292819C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292819C>T														0	865	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	31	0	0	0	1	0	3	31				
PSG7	5676	broad.mit.edu	37	19	43430827	43430827	+	RNA	SNP	G	G	A			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr19:43430827G>A	ENST00000406070.2	-	0	847				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTCTCCCTGGGGTTTAAGTTA	0.488																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							297.0	288.0	291.0					19																	43430827		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43430827G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430827G>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	840	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.488	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		13	275	0	0	0	1	0	13	275				
MCTP2	55784	broad.mit.edu	37	15	94841744	94841744	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr15:94841744A>G	ENST00000357742.4	+	1	250	c.250A>G	c.(250-252)Act>Gct	p.T84A	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.T84A|MCTP2_ENST00000543482.1_Missense_Mutation_p.T84A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	84					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGTCTGTCCACTGCAGGGAT	0.582																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(250-252)Act>Gct		multiple C2 domains, transmembrane 2							64.0	65.0	65.0					15																	94841744		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841744A>G	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.250A>G	15.37:g.94841744A>G	ENSP00000350377:p.Thr84Ala					MCTP2_ENST00000543482.1_Missense_Mutation_p.T84A|MCTP2_ENST00000451018.3_Missense_Mutation_p.T84A|MCTP2_ENST00000331706.4_5'UTR	p.T84A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	250	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		84					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.250A>G	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.244746	0.59103	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.70164	-0.46;-0.23;-0.08	5.04	5.04	0.67666	.	0.000000	0.53938	D	0.000043	T	0.51176	0.1659	L	0.29908	0.895	0.43959	D	0.996634	P;P;B;P;P	0.46512	0.802;0.587;0.451;0.702;0.879	B;B;B;B;P	0.45639	0.337;0.225;0.112;0.182;0.488	T	0.50474	-0.8824	10	0.10377	T	0.69	.	5.3539	0.16050	0.7598:0.0:0.0837:0.1566	.	84;84;84;84;84	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	A	84	ENSP00000438521:T84A;ENSP00000395109:T84A;ENSP00000350377:T84A	ENSP00000350377:T84A	T	+	1	0	MCTP2	92642748	0.061000	0.20836	0.818000	0.32626	0.943000	0.58893	1.414000	0.34736	1.906000	0.55180	0.460000	0.39030	ACT		0.582	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		8	98	0	0	0	1	0	8	98				
PLGLA	285189	broad.mit.edu	37	2	107007467	107007467	+	RNA	SNP	G	G	A	rs7575679	byFrequency	TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr2:107007467G>A	ENST00000484422.1	+	0	316							Q15195	PLGA_HUMAN	plasminogen-like A (pseudogene)							extracellular region (GO:0005576)											ACTTCTCCCCGCAGACCTAGG	0.468													.|||	1467	0.292931	0.0772	0.3213	5008	,	,		21059	0.7312		0.1183	False		,,,				2504	0.2924					ENST00000484422.1																			0																																																			0							g.chr2:107007467G>A	U67178, M86872, M86873		2q12.2	2013-03-28	2013-03-28	2008-02-07	ENSG00000240935	ENSG00000240935			9074	pseudogene	pseudogene		612212	"""plasminogen pseudogene 2"", ""plasminogen-like A1"", ""plasminogen-like A"""	PLGP2, PLGLA1		1986355	Standard	NR_003506		Approved		uc002tdp.4	Q15195	OTTHUMG00000153188		2.37:g.107007467G>A														0	316	+									RNA	SNP	ENST00000484422.1	37																																																																																						0.468	PLGLA-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331219.1	NR_003506.2		4	29	0	0	0	1	0	4	29				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	38	0	0	0	1	0	21	38				
PYCARD	29108	broad.mit.edu	37	16	31214039	31214039	+	5'UTR	SNP	C	C	T			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr16:31214039C>T	ENST00000247470.9	-	0	274				C16orf98_ENST00000561916.2_Missense_Mutation_p.R89C|PYCARD_ENST00000350605.4_5'UTR	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						CCGCTGCCGCCGCTCACCCCG	0.721																																						ENST00000561916.2																			0											c.(265-267)Cgc>Tgc		chromosome 16 open reading frame 98							10.0	12.0	11.0					16																	31214039		1903	3827	5730	SO:0001623	5_prime_UTR_variant	100652740							g.chr16:31214039C>T	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.-28G>A	16.37:g.31214039C>T						PYCARD_ENST00000350605.4_5'UTR|PYCARD_ENST00000247470.9_5'UTR	p.R89C							2	361	+								Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	c.265C>T	CCDS10708.1																																																																																				0.721	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		3	23	0	0	0	1	0	3	23				
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			8	Substitution - Missense(8)	p.V40G(8)	lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(118-120)gTg>gGg		DEAH (Asp-Glu-Ala-His) box helicase 9							54.0	51.0	52.0					1																	182812436		1803	4059	5862	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812436T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly						p.V40G	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			3	229	+			40			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.119T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		7	27	0	0	0	1	0	7	27				
HERC2P3	283755	broad.mit.edu	37	15	20588571	20588571	+	RNA	SNP	T	T	G	rs113432051	byFrequency	TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr15:20588571T>G	ENST00000428453.1	-	0	4179							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGAAGCCCAGTAGGCATCCAC	0.448													T|||	361	0.0720847	0.0772	0.0908	5008	,	,		34962	0.0		0.1292	False		,,,				2504	0.0675					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35										T		49,4307		3,43,2132	132.0	101.0	112.0			-1.6	0.0	15	dbSNP_132	112	354,8128		40,274,3927	no	intergenic				43,317,6059	GG,GT,TT		4.1735,1.1249,3.1391			20588571	403,12435	2178	4241	6419			0							g.chr15:20588571T>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588571T>G														0	4179	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.448	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	79	0	0	0	1	0	6	79				
RPL36AL	6166	broad.mit.edu	37	14	50085726	50085726	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr14:50085726A>C	ENST00000298289.6	-	2	256	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	33					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					TGGGCATACAAAGAATCCTTG	0.473																																						ENST00000298289.6																			0											c.(97-99)Ttg>Gtg		ribosomal protein L36a-like							112.0	105.0	108.0					14																	50085726		2203	4300	6503	SO:0001583	missense	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085726A>C	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"""L ribosomal proteins"""	10346	protein-coding gene	gene with protein product		180469	"""ribosomal protein L36a"""	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.97T>G	14.37:g.50085726A>C	ENSP00000346012:p.Leu33Val						p.L33V	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	256	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		33					Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.97T>G	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048671	0.36181	.	.	ENSG00000165502	ENST00000298289	T	0.46451	0.87	4.16	0.956	0.19608	Ribosomal protein, zinc-binding domain (1);	0.000000	0.56097	U	0.000024	T	0.28101	0.0693	.	.	.	0.24266	N	0.995266	B	0.02656	0.0	B	0.10450	0.005	T	0.17531	-1.0366	9	0.40728	T	0.16	-33.4981	8.2999	0.32008	0.2947:0.0:0.7053:0.0	.	33	Q969Q0	RL36L_HUMAN	V	33	ENSP00000346012:L33V	ENSP00000346012:L33V	L	-	1	2	RPL36AL	49155476	1.000000	0.71417	0.978000	0.43139	0.842000	0.47809	5.008000	0.63991	0.217000	0.20800	-0.379000	0.06801	TTG		0.473	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			38	85	0	0	0	1	0	38	85				
KIF1A	547	broad.mit.edu	37	2	241710459	241710459	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr2:241710459C>T	ENST00000320389.7	-	14	1401	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A424T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	415					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACACGGAGGCCGCGCGGCTG	0.647																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1270-1272)Gcc>Acc		kinesin family member 1A							45.0	58.0	54.0					2																	241710459		2110	4256	6366	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241710459C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1243G>A	2.37:g.241710459C>T	ENSP00000322791:p.Ala415Thr					KIF1A_ENST00000320389.7_Missense_Mutation_p.A415T	p.A424T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	15	1516	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	415					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1270G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.821	0.937476	0.18206	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.72942	-0.58;-0.61;-0.7	4.11	4.11	0.48088	.	0.126644	0.52532	U	0.000077	T	0.65417	0.2689	M	0.65975	2.015	0.52501	D	0.999957	B;P;B	0.43788	0.002;0.817;0.418	B;B;B	0.38562	0.008;0.276;0.202	T	0.66452	-0.5920	10	0.08837	T	0.75	.	16.3652	0.83317	0.0:1.0:0.0:0.0	.	424;424;415	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	415;424;424;424	ENSP00000322791:A415T;ENSP00000438388:A424T;ENSP00000384231:A424T	ENSP00000322791:A415T	A	-	1	0	KIF1A	241359132	1.000000	0.71417	0.828000	0.32881	0.063000	0.16089	7.589000	0.82641	1.848000	0.53677	0.555000	0.69702	GCC		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		6	66	0	0	0	1	0	6	66				
DNM1P47	100216544	broad.mit.edu	37	15	102292819	102292819	+	RNA	SNP	C	C	T			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr15:102292819C>T	ENST00000561463.1	+	0	865									DNM1 pseudogene 47																		CGCGTGGGAACGAGAAGACAC	0.592																																						ENST00000561463.1																			0																																																			0							g.chr15:102292819C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292819C>T														0	865	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	31	0	0	0	1	0	3	31				
PSG7	5676	broad.mit.edu	37	19	43430827	43430827	+	RNA	SNP	G	G	A			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr19:43430827G>A	ENST00000406070.2	-	0	847				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTCTCCCTGGGGTTTAAGTTA	0.488																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							297.0	288.0	291.0					19																	43430827		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43430827G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430827G>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	840	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.488	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		13	275	0	0	0	1	0	13	275				
TP73-AS1	57212	broad.mit.edu	37	1	3662614	3662614	+	RNA	SNP	G	G	A			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr1:3662614G>A	ENST00000452079.1	-	0	1272				TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											AGAGACGTGTGGCCCACAGCG	0.652																																						ENST00000452079.1																			0																				109.0	122.0	117.0					1																	3662614		2197	4285	6482			0							g.chr1:3662614G>A			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662614G>A						TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA		NR_033711.1						0	1272	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.652	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		9	97	0	0	0	1	0	9	97				
MCTP2	55784	broad.mit.edu	37	15	94841744	94841744	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr15:94841744A>G	ENST00000357742.4	+	1	250	c.250A>G	c.(250-252)Act>Gct	p.T84A	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.T84A|MCTP2_ENST00000543482.1_Missense_Mutation_p.T84A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	84					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGTCTGTCCACTGCAGGGAT	0.582																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(250-252)Act>Gct		multiple C2 domains, transmembrane 2							64.0	65.0	65.0					15																	94841744		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841744A>G	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.250A>G	15.37:g.94841744A>G	ENSP00000350377:p.Thr84Ala					MCTP2_ENST00000543482.1_Missense_Mutation_p.T84A|MCTP2_ENST00000451018.3_Missense_Mutation_p.T84A|MCTP2_ENST00000331706.4_5'UTR	p.T84A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	250	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		84					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.250A>G	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.244746	0.59103	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.70164	-0.46;-0.23;-0.08	5.04	5.04	0.67666	.	0.000000	0.53938	D	0.000043	T	0.51176	0.1659	L	0.29908	0.895	0.43959	D	0.996634	P;P;B;P;P	0.46512	0.802;0.587;0.451;0.702;0.879	B;B;B;B;P	0.45639	0.337;0.225;0.112;0.182;0.488	T	0.50474	-0.8824	10	0.10377	T	0.69	.	5.3539	0.16050	0.7598:0.0:0.0837:0.1566	.	84;84;84;84;84	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	A	84	ENSP00000438521:T84A;ENSP00000395109:T84A;ENSP00000350377:T84A	ENSP00000350377:T84A	T	+	1	0	MCTP2	92642748	0.061000	0.20836	0.818000	0.32626	0.943000	0.58893	1.414000	0.34736	1.906000	0.55180	0.460000	0.39030	ACT		0.582	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		8	98	0	0	0	1	0	8	98				
PLGLA	285189	broad.mit.edu	37	2	107007467	107007467	+	RNA	SNP	G	G	A	rs7575679	byFrequency	TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr2:107007467G>A	ENST00000484422.1	+	0	316							Q15195	PLGA_HUMAN	plasminogen-like A (pseudogene)							extracellular region (GO:0005576)											ACTTCTCCCCGCAGACCTAGG	0.468													.|||	1467	0.292931	0.0772	0.3213	5008	,	,		21059	0.7312		0.1183	False		,,,				2504	0.2924					ENST00000484422.1																			0																																																			0							g.chr2:107007467G>A	U67178, M86872, M86873		2q12.2	2013-03-28	2013-03-28	2008-02-07	ENSG00000240935	ENSG00000240935			9074	pseudogene	pseudogene		612212	"""plasminogen pseudogene 2"", ""plasminogen-like A1"", ""plasminogen-like A"""	PLGP2, PLGLA1		1986355	Standard	NR_003506		Approved		uc002tdp.4	Q15195	OTTHUMG00000153188		2.37:g.107007467G>A														0	316	+									RNA	SNP	ENST00000484422.1	37																																																																																						0.468	PLGLA-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331219.1	NR_003506.2		4	29	0	0	0	1	0	4	29				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	38	0	0	0	1	0	21	38				
COMT	1312	broad.mit.edu	37	22	19951897	19951897	+	Intron	SNP	G	G	C	rs4646315	byFrequency	TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr22:19951897G>C	ENST00000361682.6	+	5	997				COMT_ENST00000449653.1_Intron|COMT_ENST00000403710.1_Intron|COMT_ENST00000406520.3_Intron|MIR4761_ENST00000585066.1_RNA|COMT_ENST00000407537.1_Intron|COMT_ENST00000403184.1_Missense_Mutation_p.K230N	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase						cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	CCTCTCCAAAGAGCCAGGCAT	0.632													G|||	874	0.174521	0.1241	0.2219	5008	,	,		18599	0.123		0.1869	False		,,,				2504	0.2495					ENST00000403184.1																			0				kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5						c.(688-690)aaG>aaC		catechol-O-methyltransferase	Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)																																			SO:0001627	intron_variant	1312				neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	g.chr22:19951897G>C		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.615+75G>C	22.37:g.19951897G>C						COMT_ENST00000361682.6_Intron|COMT_ENST00000407537.1_Intron|COMT_ENST00000406520.3_Intron|COMT_ENST00000403710.1_Intron|COMT_ENST00000449653.1_Intron	p.K230N			P21964	COMT_HUMAN			5	946	+	Colorectal(54;0.0993)		0					A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Missense_Mutation	SNP	ENST00000361682.6	37	c.690G>C	CCDS13770.1	362	0.16575091575091574	73	0.1483739837398374	78	0.2154696132596685	64	0.11188811188811189	147	0.19393139841688653	G	9.617	1.132749	0.21041	.	.	ENSG00000093010	ENST00000403184	T	0.70631	-0.5	3.19	-1.95	0.07548	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.06716	-1.0811	6	.	.	.	.	8.6346	0.33939	0.0:0.5136:0.2239:0.2625	rs4646315	230	E7EUU8	.	N	230	ENSP00000383966:K230N	.	K	+	3	2	COMT	18331897	0.002000	0.14202	0.001000	0.08648	0.022000	0.10575	0.783000	0.26802	-0.236000	0.09753	0.462000	0.41574	AAG		0.632	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2	NM_000754		3	25	0	0	0	1	0	3	25				
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs			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_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|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		7	61						7	61	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA	rs202177940		TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086382_20086383insAAAA																													14.37:g.20086387_20086390dupAAAA														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			3	5						3	5	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		5	9						5	9	---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57358200	57358200	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chrX:57358200delC	ENST00000374900.4	+	4	702	c.582delC	c.(580-582)aacfs	p.N195fs		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	195						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCCGATCAAACAACCCATATG	0.388										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(580-582)aafs		fatty acid amide hydrolase 2							175.0	137.0	150.0					X																	57358200		2203	4300	6503	SO:0001589	frameshift_variant	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57358200delC	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.582delC	X.37:g.57358200delC	ENSP00000364035:p.Asn195fs	HNSCC(52;0.14)					p.N195fs	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			4	702	+			195					Q86VT2|Q96N98	Frame_Shift_Del	DEL	ENST00000374900.4	37	c.582delC	CCDS14375.1																																																																																				0.388	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		9	87						9	87	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		16	213						16	213	---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57358200	57358200	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	73a63ebc-f5e7-4f82-9767-572a4d623cad	g.chrX:57358200delC	ENST00000374900.4	+	4	702	c.582delC	c.(580-582)aacfs	p.N195fs		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	195						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCCGATCAAACAACCCATATG	0.388										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(580-582)aafs		fatty acid amide hydrolase 2							175.0	137.0	150.0					X																	57358200		2203	4300	6503	SO:0001589	frameshift_variant	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57358200delC	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.582delC	X.37:g.57358200delC	ENSP00000364035:p.Asn195fs	HNSCC(52;0.14)					p.N195fs	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			4	702	+			195					Q86VT2|Q96N98	Frame_Shift_Del	DEL	ENST00000374900.4	37	c.582delC	CCDS14375.1																																																																																				0.388	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		9	87						9	87	---	---	---	---
