#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_BAM_File	i_CAF	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
CHIAP2	149620	genome.wustl.edu	37	1	111824840	111824840	+	RNA	SNP	T	T	A			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr1:111824840T>A	ENST00000369743.4	+	0	724					NR_003928.1				chitinase, acidic pseudogene 2																		aaaaaaaCTGTGGAGACATTG	0.373																																							0											0																																												0					1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111824840T>A				RNA	SNP	0	NULL	ENST00000369743.4	37	NULL		1																																																																																			0	0		0.373	CHIAP2-001	KNOWN	basic	processed_transcript	CHIAP2	pseudogene	OTTHUMT00000033667.3	14	151	0	0.65	0	1	T		0	0		111824840	1	no_errors	ENST00000369743	ensembl	human	known	74_37	rna	14	181	21.05	4.19	4	8	SNP	0.014	A
NLRC4	58484	genome.wustl.edu	37	2	32477618	32477618	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr2:32477618C>A	ENST00000404025.2	-	4	620	c.132G>T	c.(130-132)gaG>gaT	p.E44D	NLRC4_ENST00000342905.6_Missense_Mutation_p.E44D|NLRC4_ENST00000360906.5_Missense_Mutation_p.E44D|NLRC4_ENST00000402280.1_Missense_Mutation_p.E44D			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	44	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTCCACCTTCTCGCAGCAAA	0.393																																							0											0													177.0	161.0	167.0					2																	32477618		2203	4300	6503	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.132G>T	2.37:g.32477618C>A	ENSP00000385090:p.Glu44Asp		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD	p.E44D	ENST00000404025.2	37	c.132	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	C	4.830	0.154373	0.09236	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.6	1.74	0.24563	DEATH-like (2);Caspase Recruitment (2);	0.466047	0.15794	N	0.244287	T	0.09512	0.0234	L	0.27053	0.805	0.30805	N	0.7394149999999999	P;P	0.40731	0.728;0.643	B;B	0.37346	0.219;0.247	T	0.16867	-1.0388	9	0.02654	T	1	-3.3035	4.6557	0.12617	0.3796:0.5125:0.0:0.1079	.	44;44	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	D	44	ENSP00000354159:E44D;ENSP00000385428:E44D;ENSP00000339666:E44D;ENSP00000385090:E44D	ENSP00000339666:E44D	E	-	3	2	NLRC4	32331122	0.012000	0.17670	0.082000	0.20525	0.261000	0.26267	0.053000	0.14184	0.494000	0.27859	0.411000	0.27672	GAG	0	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD		0.393	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	protein_coding	OTTHUMT00000325222.2	52	192	0	0.00	0	0	C	NM_021209	0	0		32477618	-1	no_errors	ENST00000360906	ensembl	human	known	74_37	missense	44	121	34.33	45.98	23	103	SNP	0.468	A
PKP4	8502	genome.wustl.edu	37	2	159530414	159530414	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr2:159530414A>G	ENST00000389759.3	+	19	3141	c.3029A>G	c.(3028-3030)cAt>cGt	p.H1010R	PKP4_ENST00000389757.3_Missense_Mutation_p.H1010R|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1010					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AATCAGAACCATTTTATTACA	0.398										HNSCC(62;0.18)																													0											0													152.0	139.0	143.0					2																	159530414		2203	4300	6503	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3029A>G	2.37:g.159530414A>G	ENSP00000374409:p.His1010Arg		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.H1010R	ENST00000389759.3	37	c.3029	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265393	0.80358	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.75704	-0.93;-0.96	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84138	0.5406	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.991	D;D;P	0.83275	0.983;0.996;0.764	D	0.83441	0.0043	10	0.39692	T	0.17	-14.8356	16.1485	0.81594	1.0:0.0:0.0:0.0	.	965;1010;1010	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	R	1010	ENSP00000374407:H1010R;ENSP00000374409:H1010R	ENSP00000374407:H1010R	H	+	2	0	PKP4	159238660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.281000	0.76405	0.533000	0.62120	CAT	0	NULL		0.398	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	protein_coding	OTTHUMT00000333250.1	49	213	0	0.00	0	0	A		0	0		159530414	1	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	32	269	11.11	17.74	4	58	SNP	1	G
ZDHHC11B	653082	genome.wustl.edu	37	5	751357	751357	+	Silent	SNP	A	A	G			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr5:751357A>G	ENST00000382776.4	-	4	518	c.519T>C	c.(517-519)acT>acC	p.T173T	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11B_ENST00000508859.2_Silent_p.T184T			P0C7U3	ZH11B_HUMAN	zinc finger, DHHC-type containing 11B	173						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			lung(3)|stomach(1)	4						CCGAGGCCACAGTGCTGAAGA	0.677																																							0											0																																										SO:0001819	synonymous_variant	0					5p15.33	2007-01-29				ENSG00000206077		"""Zinc fingers, DHHC-type"""	32962	protein-coding gene	gene with protein product							Standard	XM_003118532		Approved			P0C7U3		ENST00000382776.4:c.519T>C	5.37:g.751357A>G			A6NHR3	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.T173	ENST00000382776.4	37	c.519		5																																																																																			0	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase		0.677	ZDHHC11B-201	KNOWN	basic|appris_candidate	protein_coding	ZDHHC11B	protein_coding		88	8	0	0.00	0	0	A	XM_926053	0	0		751357	-1	no_errors	ENST00000382776	ensembl	human	known	74_37	silent	58	16	23.68	23.81	18	5	SNP	0.001	G
SLC25A46	91137	genome.wustl.edu	37	5	110074966	110074966	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr5:110074966T>G	ENST00000355943.3	+	1	272	c.146T>G	c.(145-147)aTc>aGc	p.I49S	SLC25A46_ENST00000509442.2_Intron|SLC25A46_ENST00000504098.1_5'Flank|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000447245.2_Missense_Mutation_p.I49S	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	49					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CCCCCAGATATCCCCGGCAGC	0.697																																							0											0													13.0	15.0	14.0					5																	110074966		2180	4268	6448	SO:0001583	missense	0			BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.146T>G	5.37:g.110074966T>G	ENSP00000348211:p.Ile49Ser		A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.I49S	ENST00000355943.3	37	c.146	CCDS4100.1	5	.	.	.	.	.	.	.	.	.	.	T	25.3	4.626708	0.87560	.	.	ENSG00000164209	ENST00000355943;ENST00000447245	D;D	0.88509	-2.25;-2.39	5.1	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.86393	0.5922	M	0.63428	1.95	0.80722	D	1	B	0.30851	0.297	B	0.30943	0.122	D	0.84637	0.0693	10	0.87932	D	0	-10.692	10.685	0.45837	0.0:0.076:0.0:0.9239	.	49	Q96AG3	S2546_HUMAN	S	49	ENSP00000348211:I49S;ENSP00000399717:I49S	ENSP00000348211:I49S	I	+	2	0	SLC25A46	110102865	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.699000	0.74613	0.948000	0.37687	0.528000	0.53228	ATC	0	NULL		0.697	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A46	protein_coding	OTTHUMT00000250721.5	84	72	0	0.00	0	0	T	NM_138773	0	0		110074966	1	no_errors	ENST00000355943	ensembl	human	known	74_37	missense	52	47	46.94	40.74	46	33	SNP	1	G
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	354	110	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	225	69	39.84	50.36	149	70	SNP	1	A
TSPYL5	85453	genome.wustl.edu	37	8	98289254	98289254	+	Silent	SNP	T	T	A	rs146046752	byFrequency	TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr8:98289254T>A	ENST00000322128.3	-	1	922	c.819A>T	c.(817-819)gtA>gtT	p.V273V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	273					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					AGTAGCTCAGTACCTCTTTCT	0.478																																							0											0													70.0	77.0	75.0					8																	98289254		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.819A>T	8.37:g.98289254T>A			B3KRF0|Q9C0B3	Silent	SNP	pfam_NAP_family	p.V273	ENST00000322128.3	37	c.819	CCDS34927.1	8																																																																																			0	pfam_NAP_family		0.478	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	protein_coding	OTTHUMT00000380611.1	32	171	0	0.00	0	0	T	NM_033512	0	0		98289254	-1	no_errors	ENST00000322128	ensembl	human	known	74_37	silent	20	223	25.93	16.48	7	44	SNP	0	A
MYOF	26509	genome.wustl.edu	37	10	95097618	95097618	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr10:95097618T>C	ENST00000359263.4	-	40	4390	c.4391A>G	c.(4390-4392)cAt>cGt	p.H1464R	MYOF_ENST00000371501.4_Missense_Mutation_p.H1464R|MYOF_ENST00000358334.5_Missense_Mutation_p.H1451R|MYOF_ENST00000371502.4_Missense_Mutation_p.H1483R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1464					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCATTTTTCATGTTCCCCTGA	0.423																																							0											0													179.0	165.0	169.0					10																	95097618		1919	4132	6051	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4391A>G	10.37:g.95097618T>C	ENSP00000352208:p.His1464Arg		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.H1464R	ENST00000359263.4	37	c.4391	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	T	8.626	0.892593	0.17613	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.82344	-1.58;-1.58;-1.59;-1.6	5.78	-3.07	0.05363	.	0.556311	0.21158	N	0.079205	T	0.62122	0.2402	N	0.17474	0.49	0.28031	N	0.934118	B;B	0.20459	0.0;0.045	B;B	0.18263	0.002;0.021	T	0.50816	-0.8783	10	0.16420	T	0.52	-2.7301	7.7737	0.29023	0.4749:0.0:0.1871:0.338	.	1451;1464	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1451;1464;1464;1483	ENSP00000351094:H1451R;ENSP00000352208:H1464R;ENSP00000360556:H1464R;ENSP00000360557:H1483R	ENSP00000351094:H1451R	H	-	2	0	MYOF	95087608	0.998000	0.40836	0.996000	0.52242	0.970000	0.65996	0.524000	0.22940	-0.106000	0.12110	-0.468000	0.05107	CAT	0	NULL		0.423	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	protein_coding	OTTHUMT00000049423.2	77	255	0	0.00	0	0	T	NM_013451	0	0		95097618	-1	no_errors	ENST00000359263	ensembl	human	known	74_37	missense	86	297	8.51	6.90	8	22	SNP	0.892	C
SLC18A2	6571	genome.wustl.edu	37	10	119013570	119013570	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr10:119013570T>C	ENST00000298472.5	+	5	678	c.535T>C	c.(535-537)Tcc>Ccc	p.S179P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	179					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GTTTGCCTTCTCCAGCAGCTA	0.592																																							0											0													152.0	134.0	140.0					10																	119013570		2203	4300	6503	SO:0001583	missense	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.535T>C	10.37:g.119013570T>C	ENSP00000298472:p.Ser179Pro		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S179P	ENST00000298472.5	37	c.535	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581011	0.86748	.	.	ENSG00000165646	ENST00000298472	D	0.82433	-1.61	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.80183	2.485	0.58432	D	0.999994	D	0.61697	0.99	D	0.67725	0.953	D	0.90311	0.4337	10	0.39692	T	0.17	-28.6824	16.3951	0.83601	0.0:0.0:0.0:1.0	.	179	Q05940	VMAT2_HUMAN	P	179	ENSP00000298472:S179P	ENSP00000298472:S179P	S	+	1	0	SLC18A2	119003560	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.152000	0.71812	2.272000	0.75746	0.460000	0.39030	TCC	0	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.592	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	protein_coding	OTTHUMT00000050563.1	24	92	0	0.00	0	0	T	NM_003054	0	0		119013570	1	no_errors	ENST00000298472	ensembl	human	known	74_37	missense	17	128	10.53	7.25	2	10	SNP	1	C
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		0		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	69	180	0	0.00	0	0	C	NM_033360	rs121913529	C->A,G,T		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	74_37	missense	32	133	42.86	43.88	24	104	SNP	1	T
SEC23A	10484	genome.wustl.edu	37	14	39512039	39512039	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr14:39512039C>G	ENST00000307712.6	-	17	2454	c.1937G>C	c.(1936-1938)cGt>cCt	p.R646P	SEC23A_ENST00000545328.2_Missense_Mutation_p.R617P|SEC23A_ENST00000536508.1_Missense_Mutation_p.R544P|SEC23A_ENST00000537403.1_Missense_Mutation_p.R444P	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	646					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GAGAAGAATACGATCTGCAAG	0.318																																							0											0													102.0	107.0	106.0					14																	39512039		2203	4300	6503	SO:0001583	missense	0			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1937G>C	14.37:g.39512039C>G	ENSP00000306881:p.Arg646Pro		B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.R646P	ENST00000307712.6	37	c.1937	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882901	0.91740	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.55	5.55	0.83447	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.78855	0.4349	M	0.92507	3.315	0.80722	D	1	D;D;D	0.62365	0.976;0.978;0.991	P;D;D	0.64144	0.872;0.911;0.922	T	0.81929	-0.0708	10	0.49607	T	0.09	-15.3091	19.8764	0.96873	0.0:1.0:0.0:0.0	.	617;544;646	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	P	444;646;544;617	ENSP00000444193:R444P;ENSP00000306881:R646P;ENSP00000437715:R544P;ENSP00000445393:R617P	ENSP00000306881:R646P	R	-	2	0	SEC23A	38581790	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.760000	0.85248	2.768000	0.95171	0.655000	0.94253	CGT	0	pfam_Gelsolin_dom		0.318	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	protein_coding	OTTHUMT00000276728.2	192	217	0	0.00	0	0	C		0	0		39512039	-1	no_errors	ENST00000307712	ensembl	human	known	74_37	missense	109	119	43.52	49.15	84	115	SNP	1	G
CD226	10666	genome.wustl.edu	37	18	67563024	67563024	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr18:67563024C>G	ENST00000280200.4	-	4	908	c.640G>C	c.(640-642)Gtc>Ctc	p.V214L	CD226_ENST00000577287.1_Missense_Mutation_p.V59L|CD226_ENST00000581982.1_Missense_Mutation_p.V59L|CD226_ENST00000582621.1_Missense_Mutation_p.V214L	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	214	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GAGTCTGAGACTGTGACATCG	0.542																																					NSCLC(184;838 2130 8673 21498 50749)		0											0													138.0	128.0	132.0					18																	67563024		2203	4300	6503	SO:0001583	missense	0			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.640G>C	18.37:g.67563024C>G	ENSP00000280200:p.Val214Leu		B2R818	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V214L	ENST00000280200.4	37	c.640	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516982	0.27123	.	.	ENSG00000150637	ENST00000280200	T	0.12147	2.71	4.82	1.02	0.19986	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.840471	0.11202	N	0.588723	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.39313	-0.9620	10	0.34782	T	0.22	.	3.7348	0.08507	0.1703:0.5543:0.0:0.2754	.	214	Q15762	CD226_HUMAN	L	214	ENSP00000280200:V214L	ENSP00000280200:V214L	V	-	1	0	CD226	65714004	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.756000	0.04777	0.067000	0.16545	-0.142000	0.14014	GTC	0	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.542	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	protein_coding	OTTHUMT00000256226.3	42	116	0	0.00	0	0	C	NM_006566	0	0		67563024	-1	no_errors	ENST00000280200	ensembl	human	known	74_37	missense	24	98	45.83	38.36	22	61	SNP	0	G
FCGBP	8857	genome.wustl.edu	37	19	40366440	40366440	+	Silent	SNP	G	G	T			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr19:40366440G>T	ENST00000221347.6	-	30	13801	c.13794C>A	c.(13792-13794)cgC>cgA	p.R4598R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4598	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCACGCGCAGGCGCACGAAGC	0.677																																							0											0													43.0	49.0	47.0					19																	40366440		2202	4297	6499	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13794C>A	19.37:g.40366440G>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.R4598	ENST00000221347.6	37	c.13794	CCDS12546.1	19																																																																																			0	pfam_VWF_type-D,smart_VWF_type-D		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	92	132	0	1.49	0	2	G	NM_003890	0	0		40366440	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	132	152	13.16	19.90	20	38	SNP	0.995	T
OPRL1	4987	genome.wustl.edu	37	20	62730015	62730015	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr20:62730015T>C	ENST00000349451.3	+	6	1388	c.976T>C	c.(976-978)Ttc>Ctc	p.F326L	OPRL1_ENST00000355631.4_Missense_Mutation_p.F326L|OPRL1_ENST00000336866.2_Missense_Mutation_p.F326L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	326					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGATGAGAACTTCAAGGCCTG	0.637																																							0											0													99.0	89.0	92.0					20																	62730015		2202	4298	6500	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.976T>C	20.37:g.62730015T>C	ENSP00000336764:p.Phe326Leu		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.F326L	ENST00000349451.3	37	c.976	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	T	32	5.148733	0.94603	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.46451	0.87;0.87;0.87	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	M	0.80982	2.52	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.73380	0.98;0.97	T	0.71902	-0.4452	10	0.87932	D	0	.	14.8049	0.69945	0.0:0.0:0.0:1.0	.	321;326	P41146-2;P41146	.;OPRX_HUMAN	L	326	ENSP00000336843:F326L;ENSP00000347848:F326L;ENSP00000336764:F326L	ENSP00000336843:F326L	F	+	1	0	OPRL1	62200459	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.838000	0.86804	1.900000	0.55004	0.409000	0.27619	TTC	0	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	protein_coding	OTTHUMT00000080295.1	21	69	0	0.00	0	0	T	NM_182647	0	0		62730015	1	no_errors	ENST00000336866	ensembl	human	known	74_37	missense	6	52	62.5	40.23	10	35	SNP	1	C
DNER	92737	genome.wustl.edu	37	2	230456533	230456535	+	In_Frame_Del	DEL	GCT	GCT	-	rs376000556	byFrequency	TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	GCT	GCT	GCT	-	GCT	GCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr2:230456533_230456535delGCT	ENST00000341772.4	-	2	480_482	c.346_348delAGC	c.(346-348)agcdel	p.S116del		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	116	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Interaction with NOTCH1. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTAGCCATCgctgctgctgctg	0.532																																							0											0																																										SO:0001651	inframe_deletion	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.346_348delAGC	2.37:g.230456542_230456544delGCT	ENSP00000345229:p.Ser116del		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	In_Frame_Del	DEL	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S116in_frame_del	ENST00000341772.4	37	c.348_346	CCDS33390.1	2																																																																																			0	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.532	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	protein_coding	OTTHUMT00000331902.1	28	51	0	0.00	0	0	GCT	NM_139072	0	0		230456535	-1	no_errors	ENST00000341772	ensembl	human	known	74_37	in_frame_del	35	53	7.89	5.36	3	3	DEL	0.003:0.004:0.006	0
UBA6	55236	genome.wustl.edu	37	4	68488877	68488877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr4:68488877delG	ENST00000322244.5	-	31	2963	c.2904delC	c.(2902-2904)ctcfs	p.L969fs		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	969					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TGAAATCCAAGAGGGTGAAAT	0.294																																							0											0													91.0	89.0	90.0					4																	68488877		2203	4297	6500	SO:0001589	frameshift_variant	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2904delC	4.37:g.68488877delG	ENSP00000313454:p.Leu969fs		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Del	DEL	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.L969fs	ENST00000322244.5	37	c.2904	CCDS3516.1	4																																																																																			0	pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1		0.294	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	protein_coding	OTTHUMT00000251429.2	79	264	0	0.00	0	0	G	NM_018227	0	0		68488877	-1	no_errors	ENST00000322244	ensembl	human	known	74_37	frame_shift_del	72	321	16.28	9.32	14	33	DEL	0.959	0
RAI1	10743	genome.wustl.edu	37	17	17697094	17697096	+	In_Frame_Del	DEL	CAG	CAG	-	rs113303801|rs398124422|rs371983878|rs571229335|rs587780431	byFrequency	TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	CAG	CAG	CAG	-	CAG	CAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr17:17697094_17697096delCAG	ENST00000353383.1	+	3	1301_1303	c.832_834delCAG	c.(832-834)cagdel	p.Q291del	RAI1_ENST00000261641.6_In_Frame_Del_p.Q291del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	291	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGCTATGACcagcagcagcagc	0.64																																							0											0																																										SO:0001651	inframe_deletion	0			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.832_834delCAG	17.37:g.17697103_17697105delCAG	ENSP00000323074:p.Gln291del		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	smart_Znf_PHD	p.Q281in_frame_del	ENST00000353383.1	37	c.832_834	CCDS11188.1	17																																																																																			0	NULL		0.640	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	protein_coding	OTTHUMT00000131775.1	42	18	0	0.00	0	0	CAG	NM_030665	rs113303801	CCAG->C		17697096	1	no_errors	ENST00000353383	ensembl	human	known	74_37	in_frame_del	42	23	12.5	23.33	6	7	DEL	0.831:0.157:0.050	0
PHF2	5253	genome.wustl.edu	37	9	96435987	96435987	+	Silent	SNP	C	C	T			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr9:96435987C>T	ENST00000359246.4	+	18	2836	c.2469C>T	c.(2467-2469)agC>agT	p.S823S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	823				S -> G (in Ref. 1; AAD21791). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCAAGGGGAGCTCGCTGGCTG	0.637																																							0											0													46.0	45.0	46.0					9																	96435987		2203	4300	6503	SO:0001819	synonymous_variant	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2469C>T	9.37:g.96435987C>T			Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.S823	ENST00000359246.4	37	c.2469	CCDS35069.1	9																																																																																			0	NULL		0.637	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	protein_coding	OTTHUMT00000053162.1	44	2	0	0.00	0	0	C	NM_005392	0	0		96435987	1	no_errors	ENST00000359246	ensembl	human	known	74_37	silent	31	7	11.43	0.00	4	0	SNP	1	T
